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AUTISM SPECTRUM
DISORDER
Jassin M. Jouria, MD
Dr. Jassin M. Jouria is a medical doctor, professor of
academic medicine, and medical author. He graduated
from Ross University School of Medicine and has
completed his clinical clerkship training in various teaching
hospitals throughout New York, including King’s County
Hospital Center and Brookdale Medical Center, among
others. Dr. Jouria has passed all USMLE medical board exams, and has served as a test prep tutor
and instructor for Kaplan. He has developed several medical courses and curricula for a variety of
educational institutions. Dr. Jouria has also served on multiple levels in the academic field including
faculty member and Department Chair. Dr. Jouria continues to serves as a Subject Matter Expert
for several continuing education organizations covering multiple basic medical sciences. He has
also developed several continuing medical education courses covering various topics in clinical
medicine. Recently, Dr. Jouria has been contracted by the University of Miami/Jackson Memorial
Hospital’s Department of Surgery to develop an e-module training series for trauma patient
management. Dr. Jouria is currently authoring an academic textbook on Human Anatomy &
Physiology.
ABSTRACT
Autism spectrum disorder is a complex brain condition characterized by
difficulties in social interaction and communication, as well as a tendency
toward repetitive behaviors. In its mildest form, autism spectrum disorder
can present minor communication challenges in children who are at or above
normal intelligence. In its most severe form, comprehensive cognitive
deficits and a total lack of communication create permanent dependence.
Currently, there is no cure for autism and the focus is on research to develop
effective management and prevention strategies.
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policies of NurseCe4Less.com and the continuing nursing education
requirements of the American Nurses Credentialing Center's Commission on
Accreditation for registered nurses. It is the policy of NurseCe4Less.com to
ensure objectivity, transparency, and best practice in clinical education for
all continuing nursing education (CNE) activities.
Continuing Education Credit Designation
This educational activity is credited for 6.5 hours. Nurses may only claim
credit commensurate with the credit awarded for completion of this course
activity. Pharmacy content is 0.5 hours (30 minutes).
Statement of Learning Need
Autism treatment teams are involved in the diagnosis and ongoing health
care of the individual child or adult with ASD as well as their families.
Clinicians in mental health and school programs are required to perform
initial and ongoing evaluations and to develop a treatment plan to promote
improved coping skills and development for individuals with autism.
Course Purpose
To provide advanced learning for clinicians interested in the diagnosis and
ongoing treatment of individuals with autism, including education and
support for their families.
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Target Audience
Advanced Practice Registered Nurses and Registered Nurses
(Interdisciplinary Health Team Members, including Vocational Nurses and
Medical Assistants may obtain a Certificate of Completion)
Course Author & Director Disclosures
Jassin M. Jouria, MD, William S. Cook, PhD, Douglas Lawrence, MA,
Susan DePasquale, MSN, FPMHNP-BC – all have no disclosures
Acknowledgement of Commercial Support
There is no commercial support for this course.
Please take time to complete a self-assessment of knowledge, on
page 4, sample questions before reading the article.
Opportunity to complete a self-assessment of knowledge learned
will be provided at the end of the course.
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1. The primary goals of ASD treatments are to
a. lessen deficits and family stresses.
b. treatment through use of medication.
c. educating family and other caregivers about unique challenges of
an individual with ASD.
d. All of the above
2. Secondary ASD can be caused by:
a. Fragile X syndrome
b. Tuberculosis
c. Rett Syndrome
d. Answers a., and c., above
3. Rett syndrome predominantly affects
a.
b.
c.
d.
males.
females.
individuals during adolescence.
those of African descent.
4. Repetitive behaviors in individuals with ASD can include
a.
b.
c.
d.
arm and hand flapping.
rocking or other unusual body movements.
head banging.
All of the above
5. True or False: Pregnancy and increased risk of ASD with a
combined diagnosis of ADHD or ADHD symptoms includes use
of valproic acid.
a. True
b. False
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Introduction
The diagnosis of Autism Spectrum Disorder (ASD) encompasses a group of
developmental disorders with symptoms that range on a continuum from
mild to severe.1 ASD is typically present early in life, from infancy or early
childhood, however, deficits from ASD may not be detected until later on,
possibly due to parental or caregiver assistance and limitations placed on
social exposure involving the autistic individual. The onset of ASD has been
intensively studied and it is widely accepted that the diagnosis of ASD may
occur far after the age of onset.2-3 From the time when a parent indicates
their child has early signs or symptoms of ASD or abnormal development
until when diagnosis is made may be quite lengthy.
Detecting early signs of ASD is often difficult4 with diagnosis occurring only
after a child is placed in situations where social awkwardness or deficits can
be noticed. Autism may keep a child from forming effective relationships
with other people, due in part to an inability to properly interpret facial
expressions or emotions. Children with autism may be resistant to cuddling
or change, and they may play alone or have delays in speech development.
People with autism also frequently repeat body movements or have extreme
attachments to certain objects. However, there are positive aspects to
autism, such as the fact that many people with autism excel on certain
mental levels, such as counting and measuring, or at art, music, or memory.
The precise causes of ASD are not known. However, it is known that genetic
factors play a role in ASD.5,6 It is also known that non-genetic,
environmental factors play a role in the development of ASD. It is thought
that ASD is the result of a combination of genetic and non-genetic factors.
What basically happens is that non-genetic, environmental factors come into
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play to make those who are genetically susceptible to ASD more likely to
develop ASD.
Autism spectrum disorder may develop gradually, or the individual may
experience what is known as regression, where he or she may lose some or
all of their acquired skills. The loss of skills can happen suddenly or
gradually. Overall, there are a number of risk factors for ASD, including
gender (boys are more likely than girls to develop ASD) and genetics,
including certain prenatal and perinatal factors, neuroanatomical
abnormalities such as enlargement of the brain, and environmental factors.
There is no cure for ASD. The primary goals of ASD treatments are to lessen
deficits and to lessen family stresses. There are a number of ways to do
these things, including applied behavioral therapy, structured teaching,
speech and language therapy, social skills therapy, occupational therapy,
and the use of medication. Additionally, educating parents, caregivers, and
siblings and providing these individuals with ways to cope and to face the
unique challenges that having an individual with ASD in the household brings
helps to alleviate the inevitable resulting family stress.
Disorders Included In The Autism Spectrum: DSM-5
The American Psychiatric Association has put forth a definition for autism as
a part of the revisions made for the Diagnostic and Statistical Manual of
Mental Disorders, fifth edition (DSM-5). Autism is seen as part of a
continuum of disorders termed autism spectrum disorder, involving a range
of disorders, such as autistic disorder, Asperger’s syndrome, childhood
disintegrative disorder, and pervasive developmental disorder not otherwise
specified. It has been proposed that the DSM-5 criteria will lead to more
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accurate diagnosis to support clinicians in the development of treatment
planning.7
Autistic disorder is also known as autism or mindblindness. This disorder
generally presents sometime in the first three years of life, and the child
appears to live within his or her own world. The child also appears to show
little interest in other people and displays poor social skills. The focus of a
child with autistic disorder is on a consistent routine, with repetitive odd or
peculiar behaviors. Children with autism frequently have problems
communicating, and they often will avoid making eye contact with others or
will avoid attaching to others. Additionally, autistic disorder may be
associated with a number of infirmities, including difficulties with motor
coordination and attention, intellectual disability, and physical health issues
such as gastrointestinal issues or sleep issues. However, despite difficulties,
some people with autistic disorder often excel in music, art, math, or with
visual skills.
Autistic disorder seems to have roots in the early development of the brain,
although the most obvious signs and symptoms emerge between 2 – 3 years
of age. Approximately 1 out of every 88 children in the United States will
have an ASD; this is a huge increase in prevalence over the past 40 years.
The increase is due in part to improvements made in diagnostic tools as well
as disease awareness. Another reason for the increase may be
environmental influence. Autistic disorder is much more common in boys
than it is in girls; approximately 1 out of every 54 boys and 1 out of every
252 girls is diagnosed with an ASD in the U.S. with ASD affecting over 2
million individuals in the U.S., and millions are affected worldwide.7
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There is no one cause for ASD, although a genetic predisposition appears to
play a role, as do environmental, or non-genetic, factors. Most cases of ASD
appear to be the result of a combination of both genetic and non-genetic
factors, with environmental stressors increasing the risk of development of
ASD in children who already have a genetic predisposition. The clearest
evidence of these types of risk factors includes events that happen before or
during birth, such as maternal illness or birthing difficulties.
Asperger Syndrome
Asperger Syndrome is considered a subtype of autism spectrum disorder.
The cause of Asperger Syndrome is unknown, and presents 4 times more
frequently in boys than it does in girls.8 Many consider Asperger syndrome
to be the mildest form of autism; therefore, many with Asperger’s are
considered to be the highest functioning autistic individuals. However, even
though many individuals with Asperger’s may be high functioning, they still
share certain key symptoms with others who suffer from autism spectrum
disorders, such as a lack of normal social conversation, lack of normal eye
contact, deficits in body language and facial expression, and difficulties in
maintaining social relationships. Those with Asperger syndrome also
frequently engage in repetitive behaviors and may become excessively
attached to objects or routines.
The prevalence of Asperger syndrome is not well known. It is not even well
recognized prior to the age of 5 or 6, primarily because the individual has
normal language development. Asperger syndrome occurs in all ethnic
groups and affects every age group.8 Additionally, it does not just affect the
child during childhood; studies indicate that children who suffer from
Asperger syndrome carry their problems with them into adulthood and some
develop further psychiatric problems in adulthood.
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Some of the common signs or symptoms of those with Asperger syndrome
are having monotone speech or lack of rhythm in speaking. Additionally, an
individual with Asperger syndrome may have problems modulating the
volume in his or her voice and may need to be continually reminded to talk
more softly. Individuals with Asperger’s are not generally isolated from the
rest of the world as a result of their own withdrawal, but rather they are
isolated because they have poor social skills or because their interests are
narrow. For example, they may approach conversations by speaking only
about their own very narrow interests, making a normal conversation
difficult.
Current research indicates that brain abnormalities may be to blame, as
some research has indicated that those children who have Asperger
syndrome have differences in structure and function than do those children
who are not affected.8 Researchers posit that these differences could be
caused by an abnormal migration of embryonic cells that in turn affects
brain structure in early childhood. This then goes on to affect the brain
circuitry that affects thought and behavior.
Scientists have also suspected that there is a strong genetic component to
Asperger syndrome, although no specific gene for Asperger syndrome has
ever been identified. Recent research has indicated that Asperger syndrome
is most likely the result of a grouping of genes in which variations or
deletions cause the individual to become vulnerable to the development of
Asperger syndrome. When combined with environmental factors, this also
determines the severity and the specific symptoms that each individual
suffers.
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Pervasive Developmental Disorder Not Otherwise Specified
Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) is
sometimes simply called pervasive developmental disorder, or may be used
interchangeably with autism spectrum disorder.9 There are some health
professionals who refer to PDD-NOS as sub-threshold autism. PDD-NOS is a
relatively new diagnosis, having been around for approximately 20 years.
PDD-NOS is the diagnosis that has come to be commonly applied to those
who are on the autism spectrum but do not generally meet the criteria for
some other autism spectrum disorder in full, such as Asperger Syndrome.
Defining features of PDD-NOS are challenges in language development and
social functioning. Repetitive behaviors are frequently seen with PDD-NOS.
Not all children with PDD-NOS have the same symptoms. Symptoms may
sometimes be mild, where the individual exhibits only a few symptoms while
at home or at school. Other individuals may exhibit severe symptoms in all
areas of their lives but still may not qualify for a diagnosis of autistic
disorder. The signs and symptoms of PDD-NOS are divided into several
categories, as outlined in the section below.
Social Signs and Symptoms
Children with PDD-NOS have a desire to make and have friends, but they
have no idea how to make that happen. If there are language delays this
may hinder the ability to socialize with other people. There is frequently
difficulty in understanding body language, tone of voice, and facial
expression in others, as well as difficulty understanding emotions. Children
with PDD-NOS often have trouble distinguishing between emotions such as
sadness, happiness and anger.
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Communication Signs and Symptoms
Those with PDD-NOS frequently have language or communication issues.
Infants with PDD-NOS may not babble as normally occurs in babies. They
also frequently take language literally and do not have an understanding of
things such as sarcasm or joking language. It is easier to expand language
skills in those children who have some language skills than it is in those
children who are entirely nonverbal.
Behavioral Signs and Symptoms
Children with PDD-NOS may exhibit tantrums or emotional outbursts. These
children may also have a great need for routine. Additionally, individuals
with PDD-NOS can often misinterpret what is happening in a situation and in
turn become easily frustrated. Tantrums are the result of fear and anxiety.
Another common behavioral symptom is perseveration, which means the
child will tend to dwell on certain events or subjects. Individuals with PDDNOS may become fixated on one topic or play only with one toy that is
associated with a particular area.
Given the newness of this diagnosis, there has been some disagreement on
how to apply a diagnosis of PDD-NOS. Recently, some studies have
suggested that PDD-NOS may best be utilized by placing individuals into one
of three subgroupings of diagnosis, as highlighted below.10,11
High function PDD-NOS
High functioning PDD-NOS involves approximately 25% of those with PDDNOS; and, these individuals generally have symptoms that overlap
Asperger’s, but they may differ slightly in that they have delays in language
development or slight cognitive impairment.
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Mid-function PDD-NOS
Mid-function PDD-NOS involves approximately 25% of those with PDD-NOS;
and, these individuals generally have symptoms that resemble those with
autistic disorder.
Low function PDD-NOS
Low-function PDD-NOS involves approximately 50% of those with PDD-NOS;
and, these individuals meet all of the criteria for autistic disorder, however,
some of their symptoms are noticeably mild. Another way to diagnose PDDNOS may be by placing individuals into one of five subgroupings, which are
listed as follows.
Atypical Autism
Atypical autism is a category relative to young children who may not have
developed a full-blown autistic disorder yet; these are individuals who
almost, but not quite, meet the criteria for autistic disorder.
Residual Autism
Residual autism is a category that includes individuals who have a history of
having autistic disorder yet may not at present meet the criteria. These
individuals still have some autistic features but as a result of interventions or
development they do not meet the criteria for autistic disorder.
Atypical Asperger Syndrome
Atypical Asperger Syndrome includes young children who may not have
developed full-blown Asperger syndrome as well as for individuals who are
almost, but not quite, to the point of meeting the full criteria for Asperger
syndrome.
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Mixed Clinical Features of Atypical Asperger Syndrome
Mixed clinical features of atypical Asperger syndrome is a category for
children with an atypical autistic disorder.
Comorbid Autism
Combined autism includes children who have a medical or neurological
disorder, such as tuberous sclerosis, that is associated with some ASD-like
features.
Those who have PDD-NOS respond best to combined therapies. Therapies
that have been demonstrated to work well on PDD-NOS are applied
behavioral analysis (ABA), sensory integration therapy, play therapy, and
social skills training. It is important for the clinician to pay attention to the
child who may not be as easily diagnosed. The Yale Developmental
Disabilities Clinic has indicated that children who have PDD-NOS may not get
the treatment they need as easily as do those diagnosed with autistic
disorder. Additionally, many education systems in the U.S. do not have a
special education category for those individuals who have PDD-NOS, leaving
these individuals to be placed into programs designed for students with
other problems, such as intellectual disabilities, emotional disturbances, or
behavior disorders. This can lead to the individual getting lost in the crowd
and not having their needs met. It is therefore essential that the clinician
work closely with parents and caregivers to ensure that the individual with
PDD-NOS is getting his or her needs met in all areas.11
Childhood Disintegrative Disorder
Childhood disintegrative disorder (CDD), also called Heller’s syndrome, is a
condition wherein children develop normally until approximately age 3 or 4.
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They then lose all of the skills they have learned. This includes motor,
language, social, and other skills. To be diagnosed with CDD the child must
lack or lose normal function in at least two developmental skill areas that
include social interaction, communication, and repetitive or stereotyped
patterns of interest and behavior or activities. CDD may be caught at
developmental screenings performed at well-child check-ups; these
screenings should always be performed, although parents should also be
encouraged to voice concerns about their child’s development at other times
as well. The cause of CDD is not known, but a link to the brain and nervous
system has been made.12
Symptoms of CDD include a delay or lack of language, impaired nonverbal
behavior, an inability to start or to maintain conversation, failure to play,
loss of control of the bladder or bowels, loss of previously established
language or communication skills, loss of motor skills; and, problems
forming relationships with others have been identified. The loss of skills may
occur abruptly or it may occur over a period of time that is extended.
Parents should express concerns to a clinician when a child loses any
developmental skill, whether it is gradual or sudden loss.
The outcome for CDD is poor. Many children with CDD are as severely
impaired as those with severe autistic disorder. Those with CDD almost
always need support for the duration of their lifetime and may need
residential care in facilities such as group homes or long-term care
residential living. There is no cure for CDD, although there are some
treatments that may be used to lessen or relieve symptoms. These
treatments include those highlighted below.
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Medication
While there are not any medications that treat CDD directly, some
medications may be used to treat the behaviors that result, such as anxiety
or depression. Additionally, epilepsy is highly co-occurring with CDD, and
anticonvulsant drugs may be utilized to control seizures.
Behavior Therapy
Behavior therapy programs are frequently utilized to help the individual with
ASD learn language or to help minimize language loss, as well as social skills
and self-care skills. Behavioral therapy programs use systems of reward and
discipline to reinforce behavior that is desirable and to discourage behavior
that is not desirable. It is important that the approach in behavior therapy is
consistent among all clinicians, caregivers, and teachers.
Rett Syndrome
Rett Syndrome is a neurodevelopmental disease that is seen almost entirely
in females, although it may sometimes rarely be seen in males. Rett
Syndrome presents in infancy or early childhood, and is caused by a
mutation in the MECP2 gene on the X chromosome.13 Since boys have a
different combination of chromosomes than do females, males who have the
mutation that causes the syndrome are generally affected in ways that are
devastating. Many die prior to birth or very early in infancy.
Symptoms vary in type and severity. Generally, the child may appear to be
developing normally, up until about 6 months of age, and then symptoms
begin to appear. This is also when the rate of growth of the head as well as
progress of certain skills such as communication may start too slow. The
most notable changes usually occur at around 12 – 18 months and occur
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over weeks to months. There are a number of signs and symptoms that
occur with Rett syndrome, including those listed below.
Slowed Growth
The brain slows in growth following birth. One of the first signs that a child
has Rett syndrome is that the child has a smaller than usual head size.
Then, as the child ages, it becomes evident that there are delays in growth
in other body parts as well.
Loss of Normal Coordination and Movement
The child begins to lose a significant amount of motor skills. This generally
begins between 12 to 18 months of age and includes a decreased ability to
control the hands as well as a decreased ability to crawl and walk in a
normal way. This occurs rapidly at first and then continues in a more gradual
manner.
Loss of Communication and the Ability to Think
Individuals who have Rett syndrome will lose their ability to communicate as
well as to speak. They may also become uninterested in toys, in people, and
in their surroundings. The change may be rapid in some children; for
example, some children may experience a sudden loss of their speech skills.
Most children regain skills such as eye contact over time as well as develop
skills such as nonverbal communication.
Abnormal Hand Movements
Children who have Rett syndrome have stereotyped hand patterns individual
to each child; these may include wringing, clapping, rubbing, squeezing, or
tapping.
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Unusual Eye Movements
Those with Rett syndrome may have eye movements that are unusual, such
as blinking, staring intensely, or closing one eye.
Breathing Problems
Individuals with Rett syndrome may have breathing problems that include
apnea, forceful exhalation of air (or saliva), or rapid breathing that is
abnormal. These types of problems are likely to occur during waking hours
but not during sleep hours.
Irritability
Rett syndrome may cause individuals to become more and more irritable and
agitated as they age, having spells of screaming that can begin suddenly
and last for hours.
Abnormal Behaviors
Abnormal behaviors may include sudden and odd facial expressions or
extended bouts of screaming or laughter that occurs for no reason.
Abnormal behaviors also include such behaviors as hand licking or grasping
clothing or hair.
Seizures
Many who have Rett syndrome also experience seizures at some point in
their lifetime. The symptoms of these seizures vary, but they can range from
having a periodic muscle spasm to being struck with full-blown epilepsy.
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Abnormal Spinal Curvature
This is also known as scoliosis. Scoliosis commonly co-occurs with Rett
syndrome, and generally begins at around 8 – 11 years of age.
Irregular Heartbeat (Dysrhythmia)
Many individuals with Rett syndrome experience this life-threatening issue.
Constipation
Constipation is a common issue for those who suffer from Rett syndrome.
Four Stages of Rett Syndrome
Rett syndrome is generally divided into four stages. These are described
briefly below.

Stage I:
In Stage I the signs and symptoms of the disease may be easily
overlooked, as this stage begins between 6 – 18 months of age.
Children who are in this stage may begin to show less eye contact or
begin to lose interest in their toys. There may also be delays in sitting
up or in crawling.

Stage II
Stage II occurs between 1 – 4 years of age. In this stage the child
begins to lose speaking ability as well as the ability to use his or her
hands. Additionally, repetitive and purposeless hand motions
begin. Some children also start to hyperventilate or hold their breath
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as well as cry or scream for no reason. It is also frequently difficult for
the child to move on his or her own.

Stage III
Stage III is considered a plateau that starts between 2 – 10 years of
age. This stage may last for years. Even though issues with movement
may continue, behavior can improve. Children in this stage frequently
cry less often, and become less irritable.

Stage IV
In Stage IV there exists extremely reduced mobility as well as muscle
weakness and scoliosis. Communication skills, understanding, and
hand skills usually won’t decline any further in this stage. Most people
who suffer from Rett Syndrome require daily assistance with everyday
tasks. They can usually live moderately long lives, extending to 50
years of age or longer.
Early Etiology Of Autism Spectrum Disorder
The precise causes of ASD are not known. However, many think that it is a
complex combination of genetic and environmental components that cause
ASD symptoms. ASD causes may be described in two ways.14 Primary ASD,
which is also known as idiopathic ASD, means that there is no underlying
medical condition. Ninety percent of all ASD cases are primary ASD.
Secondary ASD, which means that there is an underlying medical condition
that is thought to be responsible – or at the very least, partially responsible
– for the ASD symptoms. Ten percent of all ASD cases are secondary ASD.
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Primary ASD
Researchers have examined four possible causes to primary ASD. These
causes are outlined below.
Genetic Causes
There are certain genetic mutations, which may lead to a child being more
likely to develop ASD. ASD has been known to run in families, and there is
5 – 6% likelihood that younger children born into families with an older child
with ASD will also themselves have ASD. Identical twins are also at risk for
developing ASD. For example, if one twin develops ASD, there is 60%
likelihood that the other will develop ASD as well. However, it is important to
note that there are currently no specific genes that have been linked to the
development of ASD, and there is no way to currently test for the genetic
predisposition toward ASD.
Environmental Causes
A child may be exposed to certain environmental factors during the mother’s
pregnancy that may lead to the development of ASD. Some researchers
think that ASD is caused more by environment than by genetics, and that
certain people may be born with a predisposition toward ASD that is only
triggered if exposed to certain environmental stimuli. Some of the suggested
environmental stimuli include 1) a mother who had a viral or bacterial
infection while pregnant, 2) a mother who smoked while pregnant, 3) an
older father, 4) air pollution, and 5) pesticide exposure.
There is evidence to support some of these environmental factors.14 For
example, women who were exposed to the rubella infection while they were
pregnant have a 7% risk of giving birth to a child who develops an ASD.
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Additionally, women who smoked while pregnant were 40% more likely to
have a child who developed an ASD. Also, fathers over 40 years of age were
6 times more likely to have a child who developed an ASD. Researchers posit
that this may be the case because a father’s genetic material becomes more
vulnerable to mutation as he ages.14 There is less evidence to support the
idea that air pollution or pesticide exposure causes the development of ASD;
however, studies are currently examining this idea under the CHARGE study.
Psychological Causes
A child may have thought processes that contribute to the expression of
symptoms of ASD. A great deal of the research behind the psychological
factors that may contribute to ASD is rooted in a psychological concept
called “theory of mind” (TOM).14 Theory of the mind is an individual’s ability
to understand others’ emotional states; and, at its core involves seeing the
world through the eyes of the other person. The majority of children who do
not have ASD possess a full understanding of TOM by the time they are
approximately 4 years of age. Children who have ASD possess a limited or
no understanding of TOM. This may be one of the causes of the social
problems that children with ASD experience.
Neurological Causes
There are certain problems with how the brain and nervous system develops
that may contribute to ASD symptoms. A great deal of the research into
neurological causes has focused on the amygdala, which is the section of the
brain that matches emotions to the situation the individual is placed in. The
amygdala selects emotional responses from the limbic system and relays
them to the cerebral cortex.
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Brain studies that have been conducted on people with ASD indicate that the
connections between these systems are not fully functional. The result is
that people with ASD can suddenly experience extreme emotional reactions
even to trivial objects or events. This may explain why people who have ASD
favor routines, since routines and patterns tend not to promote extreme
responses.
An additional area of research has been focused on mirror neurons, which
enable an individual to mirror another individual’s actions. For example, a
mirror neuron is what allows a baby to smile in reaction to a mother’s smile.
Mirror neurons create more elaborate pathways in the brain that may
contribute to higher brain functions such as language, learning from others,
and the ability to recognize emotional states in others as an individual grows
older. Studies of children with ASD have discovered that mirror neurons in
ASD individuals do not respond in the ways they do those without ASD.
Difficulties with mirror neurons may contribute to the problems that some
individuals with ASD experience with learning and social interaction.14
Secondary ASD
Sometimes another medical condition may be the cause of ASD. Some of
these conditions that can cause symptoms of ASD (secondary ASD) are
listed here.1,14
Fragile X Syndrome
This is an uncommon condition that occurs more frequently in boys than it
does in girls. It occurs in about 1 in every 3600 boys, and in about 1 in
every 6000 girls, and presents with certain distinct characteristics such as a
long face, larger ears, and flexible joints.
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Tuberous Sclerosis
This is a rare condition that results in multiple tumors to grow throughout
the body. The tumors are not cancerous. This condition occurs in
approximately 1 in every 6000 children.
Rett Syndrome
This condition, also discussed above, is included here as a rare secondary
ASD and almost always occurs in girls. It causes extreme difficulty with
physical movement, and the individual suffering from Rett syndrome nearly
always requires full assistance with daily tasks. Approximately 1 in every
20,000 girls has Rett syndrome.
DSM-5 Diagnostic Criteria
There have been several refinements made to the diagnostic criteria found in
the Diagnostic and Statistical Manual (DSM), with suggestions based on
limitations found in previous diagnostic criteria.1 The fourth edition of the
DSM (DSM-IV) contained a large number of diagnoses,15 including a large
number of not otherwise specified (NOS) diagnoses. Additionally, practice
has changed in recent years to include the consideration of the contribution
of various comorbidities.
Autism Spectrum Disorders in DSM-5
Autism spectrum disorders in the DSM-5 is an umbrella term that will include
such disorders as pervasive developmental disorders, autistic disorder,
Asperger syndrome, childhood disintegrative disorder, and not otherwise
specified disorders.16 ASD’s will consist of these groups of developmental
disorders that are seen on a continuum that ranges from mild to severe and
present in infancy or early childhood. However, in the DSM-5, the age
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criteria for diagnosis will be different; it will not be specified that diagnosis
must occur during childhood and that diagnosis may occur later on in life.16
Because caregivers might compensate for a child’s lack of social intelligence,
in school and other social interactions, a diagnosis of ASD might not be
made until later in the child’s life.
Onset of ASD has been extensively studied,2-4 and it is accepted by the
majority of practitioners that diagnosis may occur much later than at the
time the disorder begins presenting itself. Additionally, parents and
caregivers do not always acknowledge symptoms immediately as signs of a
problem, and the time at which they acknowledge symptoms is important as
well. It is not always easy to detect specific signs and symptoms of ASD,
particularly the early ones.5 This aspect of ASD is, in particular, important to
the changes in the DSM-5 because onset of symptoms prior to age 3 has
been removed. The deletion of the age criteria in the diagnosis of ASD in
general highlights the fact that some individuals are diagnosed later in life,
as adolescents or adults.
It has been suggested that the presence of language delays not be utilized
as criteria for applying a diagnosis of autistic disorder. This is because it has
been well established that a language delay is not a symptom that is specific
to ASD. Further, children who suffer from ASD may develop fluency of
speech as they grow even if they suffered from language delay as a younger
child. However, it is important to note that the development of language is
crucial where it regards outcome because a severe language delay in early
childhood seems to predict poor outcome. Considerations regarding specific
disorders in the DSM-5 are outlined below.1,16-18
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Asperger Disorder
A highly debated change to the revision of the DSM-5 is the suggestion to
remove Asperger syndrome. However, the suggestion to remove Asperger
syndrome is based on study evidence that indicates that there is no clear
difference between Asperger’s and autistic disorder where outcome is
concerned.
Disintegrative Disorder
While the validity of disintegrative disorder has been debated recently, the
debate focuses on the problems that stem from precisely defining
developmental regressions as well as pinpointing the time of onset of the
regression. Additionally, there is the problem of defining whether
developmental delays were present prior to regression. Consideration has
been given to whether symptoms or changes present gradually or suddenly.
Due to these ambiguities, the DSM-5 therefore suggests removal of the
category of childhood disintegrative disorders.
A goal of this new criterion is to stabilize validity of diagnostic criteria across
types of ASD. Earlier studies have indicated that various types of ASD are
not easily distinguishable from one another, which was supported by a
recent review, which concluded that criteria for various types of ASD indeed
overlap. One study indicated that this led to differing definitions between
such disorders as autistic disorder and Asperger syndrome between
assessment sites, which compromised diagnostic validity. The conclusion
was that distinctions between various types of ASD’s are often dependent
upon the severity of symptoms such as the presence of a learning disability
or language skills.18
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Utilizing an umbrella term such as autistic spectrum disorders helps place
symptoms on a continuum and provides one clear, concise defining term,
therefore preserving diagnostic validity. The major goal of changes to the
diagnostic criteria in the DSM-5 is to make criteria for ASD’s more clear as
well as increase validity of diagnosis.
Characteristic Traits Of ASD
Infants and children with ASD are different from typical infants without ASD
in their social development.19 Typically, infants during their development are
very social. They gaze toward faces, turn toward speaking voices, grasp
fingers extended towards them, and smile by the time they are 2 – 3
months old. Conversely, children who develop ASD have difficulty with social
interactions with other human beings.
Social Deficits
By 8–10 months of age, infants who go on to develop ASD are generally
showing some symptoms such as the failure to respond to their names, a
reduced interest in other people, and a delay in babbling. By the time they
are toddlers, many of these children have difficulties playing socially with
other children. Additionally, they do not imitate others and they often prefer
to play on their own instead of with other children. They may not seek
comfort from parents or caregivers as well as show a failure to respond to
anger or affection in ways that are typical.
Research has indicated that children with ASD are attached to caregivers.
However, the way this attachment is expressed is often unusual, and
caregivers frequently interpret the child’s expressions as disconnected or
emotionless. It is important to remember that both children and adults who
suffer from ASD have difficulty determining what others are thinking or
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feeling. Where children who develop normally learn to accurately interpret
such social cues as smiling, waving or grimacing, these social cues hold little
meaning for the individual who suffers from autism.
Individuals with ASD also have difficulty seeing things from another person’s
perspective, meaning that they have little empathy. While most normally
developing five year olds have learned to see things from another person’s
perspective, the person suffering from ASD has not learned this skill, leading
to poor understanding. This may interfere with an ability to predict or
understand actions as well as lead to an inability to understand why another
person is feeling the way they are feeling.
Finally, it is common for individuals who suffer ASD to have difficulty
regulating their emotions. They may come across as emotionally immature,
having crying outbursts or displaying emotions that are inappropriate for the
situation. They may also be disruptive or physically aggressive. These
expressions may be particularly pronounced if the individual with ASD is
feeling overwhelmed or frustrated, and can lead to self-injurious behaviors
such as biting or head banging.
Communication Difficulties
Infants and children with ASD are different from typical children when it
comes to communication.20 The majority of children pass predictable
milestones to learning language by 3 years of age. The earliest of these is
babbling; and, by the age of 1, most typically developing children will say a
few words, acknowledge their names, and point to or display objects they
want. Additionally, children of this age have the ability to communicate
clearly either through sounds or expression when they do not want
something that is given to them. Conversely, children suffering from ASD
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generally experience delayed babbling and speaking and may also
experience delays in learning how to utilize gestures to indicate their
preferences. Some individuals who develop ASD may possess these abilities
early on and then lose them. Others experience delays and then gain
language ability later on in life.
With therapy, many with ASD do learn how to use spoken language and all
with ASD can learn how to communicate in some way, either verbally or
nonverbally. Those who communicate nonverbally or nearly nonverbally
learn to use systems such as pictures, sign language, word processors, or
devices such as speech-generators. When language does begin to develop,
an individual with ASD may utilize speech in ways that are unusual. For
example, some individuals have difficulty forming complete or meaningful
sentences. They may speak single words or phrases or repeat the same
word or phrase over and over again. Others may experience a stage where
they repeat everything they hear word for word, a condition called echolalia.
There are others who have difficulty sustaining conversation despite
developing large vocabularies. Still others carry on long monologues on
favorite subjects, giving those listening little opportunity to respond and
having little understanding of the give and take of social conversation.
Another common communication difficulty is the inability to interpret body
language and tone of voice. For example, sarcasm is particularly difficult for
those with ASD to interpret. An individual who has developed normally may
accurately interpret the sarcasm in a comment such as “Oh, that’s just
great!” whereas the individual with ASD would miss it and interpret the
comment as referencing something that actually is just great. The individual
with ASD may also not exhibit typical body language himself or herself. For
instance, their body language may not match what they are saying.
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Tone of voice may not reflect the emotion that the individual with ASD is
trying to convey. Some individuals suffering from ASD utilize flat or robotic
sounding voices. These displays make it difficult for others to understand
what individuals with ASD need or want. This failure in communication can in
turn lead to frustration and inappropriate displays made by the person
suffering ASD, such as screaming or grabbing.
Stereotyped or Repetitive Behaviors and Interests
Infants and children with ASD are also different from typical children when it
comes to behaviors and interests.21,22 Individuals who develop ASD generally
engage in repetitive behaviors as well as have a tendency to engage in a
range of activity that is tightly restricted. Common repetitive behavior
includes hand flapping, jumping, rocking, twirling, arranging or rearranging
objects, and the repetition of sounds, words, or sentences. Occasionally the
repetition involves behaviors such as wiggling the hands or fingers.
Restrictive activities can be clearly seen in the ways children with ASD play
with their toys. Instead of actually playing with their toys, these children will
often spend hours lining the toys up in a specific order. In adults this is also
seen in the way the individual is preoccupied with having certain objects
lined up in a certain order. Repetitive behavior may be intensely obsessive
and very unusual. It can take any form, including unusual content or
knowledge. This is why some individuals with ASD develop extreme interest
and knowledge of numbers or scientific topics.
Individuals with restrictive activities can become extremely upset if someone
or something disrupts the order of their things. This shows how essential
consistency is for many individuals with ASD. Even the slightest changes in
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environment or routine can prove very stressful for individuals suffering from
ASD and may lead to outbursts.
Individuals with ASD may have many different obsessions or behaviors,
however there are some that are particularly common among those with
ASD. Activities where these behaviors become notable include identifying
historical dates and events, and the use of computers, certain television
programs, trains, and science. Children with ASD in particular like playing
with toys such as Thomas the Train and dinosaurs. Older individuals with
ASD may develop repetitive obsessive interests with things like car
registration numbers, traffic lights, shapes, or body parts. Individuals with
ASD are also frequently quite interested in collecting objects; this may be
collecting something that seems quite common, such as a certain toy, or
something that seems uncommon, such as leaves.
What marks the behavior as unusual is the duration and intensity that the
person with ASD shows. People with ASD will frequently learn a great deal
about the thing they are obsessed with, be intensely interested in it for an
extended period of time, and feel very strongly about the object or objects in
question. There are a number of reasons that people with ASD develop
obsessions, including the fact that obsessions help provide structure and
order, obsessions offer a way to start conversations when social interactions
prove difficult, obsessions help the individual relax or feel happy, and
obsessions offer enjoyment and the opportunity to learn.
Repetitive behaviors can include arm and hand flapping, finger flicking,
rocking, jumping, twirling, spinning, head banging, and more complex body
movements. Repetitive movements also include the repetitive usage of an
object, such as the repetitive flick of a rubber band or repetitively stroking a
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piece of fabric. Many individuals with ASD have what is called sensory
sensitivity; this means that they are over or under sensitive to sights,
smells, touch, sounds, and tastes. Their balance and body awareness may
also be affected by this sensitivity, and the repetitive behavior is a way to
deal with the sensitivity. There are a number of reasons that people with
ASD utilize repetitive behavior, including attempts to obtain or reduce
sensory input, finding ways to deal with anxiety or stress, or as a way to
obtain enjoyment or to occupy themselves.
Routines and sameness are also important for the individual with ASD.
Routines are important because they bring order and predictability to the
individual’s life and help to manage anxiety. Repetitive behaviors and
obsessions offer routine and order to the individual who suffers from ASD.
However, the need for repetition and routine and order may extend beyond
repetitive behaviors. Some individuals with ASD may have issues with
changes such as those to their physical environment. For instance, if a chair
is moved in a room or a new person enters the room, this could be difficult
for some individuals with ASD to handle.
Some individuals with ASD may also have very rigid preferences when it
comes to things such as food. For example, they may only eat food that is a
certain color or begins with a certain letter of the alphabet. This may extend
to other areas of life, such as clothing (for example, only wearing clothing
made of certain fabrics) or even to objects (for example, only utilizing
certain brands of soap of toilet paper). Individuals with ASD may also
develop a need to have a routine around daily activities such as bedtime or
meals. These routines may become nearly ritualistic. Verbal rituals in
addition to physically repetitive behaviors may also be seen in the individual
with ASD; and, they may repeat the same question over and over again or
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need to hear a specific answer repeatedly. There may also be compulsive
behavior in addition to obsessive behavior that is developed. This means
that the individual may do things like wash their hands or check locks
constantly. This behavior is not the same as having obsessive-compulsive
disorder (OCD), although it strongly mirrors it.
Cognitive Delays
Children with ASD are different from typical children when it comes to
cognitive development.20 While cognitive abilities vary, a great many
children who have ASD also have some level of mental retardation. About
75% of people who have ASD have a nonverbal IQ that is below 70,
although ASD may also occur in individuals who are of normal or high
intelligence. There are some children with ASD who also have a high level of
giftedness in a certain area, such as art, music, or math. However, this
category of individuals referred to as savants is typically very small and is
estimated to comprise less than 1% of ASD children.20 If a child with ASD
has abilities such as these they usually manifest them by the age of ten.
Children with cognitive delay often present with other deficits as well. They
also miss general developmental milestones, particularly of those highlighted
below.20,21

Speaking their first words, generally at age 10 – 18 months

Responding to simple instructions, exploring on one’s own, utilizing
trial and error, generally at age 12 months

Walking without aid, generally at age 12 – 18 months

Naming body parts, generally at 18 months

Utilizing phrase speech, generally before the age of 24 – 30 months
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Some studies indicate that cognitive delays may be in part the result of drug
usage. One study, the Neurodevelopmental Effects of Antiepileptic Drugs
(NEAD), confirmed that fetal exposure to the drug valproate impairs a child’s
IQ well into their childhood development.20 This study was conducted on 310
pregnant women in the U.S. and the United Kingdom, with the purpose
being to determine if there were differential long-term neurodevelopmental
effects across four frequently utilized drugs: carbamazepine, phenytoin,
lamotrigine, and valproate. Researchers indicated that the use of valproate
during pregnancy led to significant cognitive effects in children, with the
child’s IQ being 8 – 11 points lower (as compared with the other drugs).
Valproate was therefore considered a very poor choice for women who were
of childbearing age. While these results seem to indicate one possible culprit
of cognitive delay in those with ASD, further study is needed to determine
how drugs could be contributing to cognitive delays.
A child with ASD may also experience additional mental health conditions or
learning disabilities. For example, they may experience attention difficulties,
problems controlling emotions, or have difficulties learning. There may also
be mood or anxiety disorders present. For example, children with ASD
sometimes suffer specific phobias in addition to ASD. It is also important to
note that medication utilized to treat symptoms may affect a child with ASD
cognitively. For example, children with ASD who also have attention deficits
do not respond predictably to stimulant medications (i.e., methylphenidate)
that may be prescribed for children with attention deficit disorder. Keeping in
mind that medication may affect the ASD child in unpredictable ways allows
for customization of treatment protocol.
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Genetics And Associated Features Of ASD
One of the biggest advances in understanding the pathophysiology of ASD
has been appreciating the significance that the contribution of genetics
makes to the etiology of ASD. There are three main areas of evidence that
support this genetic contribution: 1) twin studies, which compare
monozygotic twins (MZ) and dizygotic twins (DZ), 2) family studies, which
compare the rates of ASD in the first-degree relatives versus the general
population, and 3) studies of genetic syndromes that also co-occur with a
diagnosis of ASD. Each of these will be addressed in turn in the following
sections.21-31
Genetic Disorders
Since MZ twins share 100% of genetic material and DZ twins share 50% of
genetic material (which is similar to siblings who are not twins), and both of
these types of twins share an environment in utero, the higher disease
occurrence in MZ twins as opposed to DZ twins supports the genetic
etiology. This has been supported in more than one twin study and is overall
consistent with estimates of heritability at around 70 – 80%.
Studies in families indicate that first-degree relatives of those who are
autistic have a marked increased risk of developing ASD as compared to
those in the general population. This is consistent with the strong familial,
genetic tie that was observed in the twin studies. This is not to say that
environment does not play a role, but rather to display that genetics also
plays an important role as well. Further, first degree relatives of those with
ASD display an increase in the behavioral and cognitive features that are
associated with ASD, such as language deficits or autistic-like social
impairments; however, these often manifest in lesser forms. This is as
compared to the general population.
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It has also been common knowledge for several decades that there are a
number of medical and genetic conditions that are associated with ASD. For
instance, conditions such as Joubert syndrome, Smith-Lemli-Opitz
syndrome, Tuberous Sclerosis, and Fragile X are all known to cause ASD,
although many of these with a lower than 50% penetrance. Many genes
have been identified for ASD; however, few of these genes are specific to
ASD but instead contribute to a genetic risk for an associated disorder that
causes ASD.
Epilepsy
Epilepsy is very common in those who suffer from ASD, and increasingly,
clinicians are recognizing it as a problem that must be dealt with in addition
to the problems that come with an ASD diagnosis. Approximately 20 – 30%
of those who suffer ASD will develop epilepsy by the time they become
adults. However, actual rates of comorbidity vary with age and the type of
disorder.
Major risk factors for occurrence of a seizure are mental retardation as well
as the presence of additional neurological disorders. Therapeutic approaches
to epilepsy in ASD include conventional treatments; however, should
seizures not be evident, there is controversy as to what treatments should
be utilized. Anticonvulsant medication may interfere with moods or
behaviors, and disturbances in moods and behaviors are often observed in
those patients with ASD. There is currently limited understanding regarding
the link between ASD and epilepsy; however, from a clinical standpoint this
link should not be dismissed.
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Intellectual Disorders
Recent findings indicate that those with ASD also have a high prevalence of
intellectual disorders. Intellectual disabilities are characterized by cognitive,
social, and adaptive deficits, leading to co-occurrence with other disorders,
such as ADHD, mood disorders, and catatonia and repetitive behaviors,
which further complicate matters. These problems may be problematic not
only for the individual suffering from the disability but also for parents,
caregivers, and providers. The disorder may be so severe as to be
debilitating.
Matson divides individuals into three distinct groups: those with intellectual
disability (ID), those with ASD, and those with both ASD and ID. Matson
states that it is important for the practitioner to know which type of person
he or she is treating, as that will determine the best course of treatment. For
instance, an individual with both ID and ASD will have different needs than
the individual who only has ASD.
The combination of intellectual disorders and ASD presents a number of
challenges as well as deficits across a wide range of behaviors or skills that
are not seen in those individuals who have only ID or only ASD. For
example, it has been observed that those individuals with severe autism had
more feeding problems that were behaviorally based, in particular with
selecting or refusing food, as compared with those who only had ID. The
combination also increases challenging behaviors. For example, as IQ goes
down, the severity of challenging behaviors in ASD increases. Murphy, et al.,
discovered that self-injury in particular increased. Further, those with ASD
tend to not “grow out” of these types of behaviors; rather, they continue to
present significant challenges over the lifespan, as observed by Murphy, et
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al., in a 12-year follow-up conducted on 141 individuals with severe ASD and
ID.
Developmental Course Of ASD
It is commonly believed that those with ASD fall into one of two major
developmental categories.32 One category involves early onset of impairment
and signs and symptoms of ASD without signs of regression. This is termed
gradual onset course. The other category involves a rather typical
development. This typical development is then followed by loss of language
or social skills, sometimes with loss of both, that is paired with an
emergence of ASD-type behaviors such as repetitive or stereotypical
behaviors. This is termed regression course.
There is mixed evidence when it comes to prognostic implications where the
regression course is concerned. Some studies indicate that the regression
course is associated with worse outcomes than is the gradual onset course.33
Both of these courses may be diagnosed in early to late infancy.34
There are two approaches that have been taken in order to understand the
development of ASD. These approaches are retrospective and prospective.
Retrospective approaches are mainly based on information gained from
reviews of medical records, parental recall, or observational coding of
videotapes made in the home environment during the first or second year of
life prior to the ASD diagnosis. Retrospective studies have generated
information that indicates that the core deficits of ASD are social
functioning;35 however, they also indicate that children who suffer from ASD
also exhibit disruptions in other areas of their lives within the first year of
life, including motor skills, attention, and temperament.
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Prospective studies are considered optimal to investigate the timing and
nature of how ASD emerges because prospective, longitudinal studies
conducted from infancy would provide a means of determining patterns of
development in those children who are later diagnosed with ASD. This would
later eliminate such confounds as recall bias. There have been five
prospective studies to date that have provided longitudinal data before the
third birthday in children who have ASD as well as in children who are not
affected.36-40 These studies have all indicated that the development of
cognitive, motor, language, and social skills all appear to be fine at age 6
months. Development then slows. By the time the children enter preschool,
those with ASD frequently display motor delays.
Gradual Onset Course
The gradual onset course occurs just as its name suggests; signs and
symptoms present themselves gradually. Parents or caregivers may notice
increasing delays in development or strange behavior, such as an
unwillingness to communicate or communicating in odd ways. One example
of this would be a failure to look a person in the face that is speaking. Other
examples include failure to turn when the child’s name is called or failure to
display interests by pointing to objects the child desires. Stereotypical
behaviors may also develop, such as tapping or hand flapping. All of these
behaviors are early warning signs that a child is developmentally delayed
and may need to be screened for ASD.
Regression Course
The regression course occurs when a child is following a pattern of normal
development, generally for the first 12–24 months of life, and then he or she
appears to lose skills he or she has acquired. Language regression is
considered the most obvious form of regression, but it may also be
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accompanied by more global regression, which can involve a loss of social
skills or social interest. There is a late-onset regression course that may
occur after the age of 3, but the more common course occurs prior to the
age of three.41,42 Regression is thought to lead to the more severe course of
autism, particularly when young children abruptly lose acquired skills.
There is a particular debate among medical scientists as to whether children
who regress form a distinct grouping of autistic individuals, as some studies
have indicated that those with regression have poorer outcomes.43 The study
published in the Journal of Autism and Developmental Disorders surveyed
the parents of 2,720 children and found that those children who regress
were more likely to display more severe symptoms than were those children
who had early onset delays. This was as measured through two standard
questionnaires: the Social Responsiveness Scale and the Social
Communication Questionnaire. Children in the regression group were more
likely to receive a diagnosis of autistic disorder as opposed to a diagnosis
that was on the milder end of the spectrum, such as Asperger syndrome, as
compared to their earlier onset peers. Additionally, in a school setting,
approximately 70% of children who regress are put into special education
settings, with 56% needing a professional aid.
Communication
Research indicates that regression in communication, particularly in speech
and gestures occurs in approximately 22 – 50% of those children with
ASD.44,45 The rate is so variable because the definition for regression is fairly
loose and can mean anything from the loss of a minimum of five words for a
period of 3 months to the loss of the consistent usage of one word used in
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standard communication. Approximately 30% of children who experience
regression never manage conversational speech.
Social
Loss of social skills can mean that the child stops returning the caregiver’s
gaze, for example, or displays a lack of interest in other people when they
are in the same space with him or her. An increased disinterest in social
games that the child previously enjoyed, such as patty cake or peek-a-boo,
may become obvious. One meta-analysis indicates that approximately 38%
of children suffer from social regression.
Cognitive
Cognitive decline in ASD manifests as more than a child simply losing what
he or she has learned to date. However, one of the manifestations most
clearly seen in cognitive decline is the loss of language skills. The individual
may have been learning language skills perfectly well and then suddenly
loses the ability to learn new skills. Other features of cognitive decline are
the inability to learn new material as well as the development of associated
mental impairments. An example of an associated impairment would be
epilepsy, a common impairment associated with autism spectrum disorder.
Self-help Skills
The loss of self-help skills occurs when a child loses the ability to continue to
develop independence. This means that the child fails to develop the ability
to feed, clean, and dress oneself. Children who regress lose the ability to
understand how to complete these tasks and can lack or lose the physical
coordination necessary to complete these tasks. Additionally, the child may
lose or not develop an understanding of how or when to ask for assistance
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with tasks. These types of tasks help children become socialized into his or
her culture; without them the child is poorly socialized. The fact that many
individuals with ASD are lacking in this area is one reason why they appear
to be so poorly socialized.
Effects Of Early Intervention
Early detection of ASD allows for practitioners to intervene in a more timely
way with behavioral therapies that may then improve outcomes. Currently,
the American Academy of Pediatrics guidelines call for the screening of all
toddlers at the ages of 18 and 24 months. These are the ages at which the
existing screening methods are most able to identify children at risk for ASD.
The existing research and current screening methods are highlighted in this
section.46-56
Research has shown that a brief questionnaire administered to parents at
their child’s one-year, well-baby screening may help practitioners identify
those children who have ASD or who are at higher risk for the development
of ASD. One study involving 137 pediatricians who administered a 24-item
checklist to all caregivers bringing in children for routine one-year check-ups
indicated that about 346 of the 10,500 children screened were at risk for
autism. These children were all referred to an autism clinic to be evaluated
further. Of these children, approximately 50% were followed to age 3; and,
32 of these children received a diagnosis of ASD. Another 56 children were
diagnosed with having a language delay. Of those children diagnosed with
delayed language skills, 9 children were diagnosed with having a
developmental delay; and, 36 children were diagnosed with other conditions.
The screening utilized for autism in childhood – called the Communication
and Symbolic Behavior Scales Developmental Profile Infant-Toddler
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Checklist, took the parents approximately 5 minutes to complete; and, the
screening test predicted autism and other developmental delays
approximately 75% of the time. This indicates that this questionnaire – or
one similar – could be useful in identifying ASD earlier so that more timely
intervention methods may be put to use. Although most pediatricians do not
routinely screen early for ASD and other developmental delays (indeed, prior
to the study, only 30 of the 137 pediatricians participating (22%) had
routinely screened for ASD at 1 year of a child’s life) there seems to be some
good evidence that early intervention efforts do benefit those who suffer
from an autistic disorder.
The Early Start Denver Model (ESDM), which is a behavioral intervention
program appropriate for children as young as 12 months who are suffering
from ASD, has been found in more than one study to be effective in
improving brain response as well as social skills. ESDM combines applied
behavioral analysis (ABA) along with a developmental relationship based
approach to achieve gains in language, cognition, and everyday living skills.
ESDM is a unique approach in part because it works with children who are
very young, but also because it blends ABA with routines that are based in
play and focus on building relationships.
One study utilizing ESDM examined 48 children with ASD between 18 and 30
months of age. The children were randomly assigned to either receive ESDM
or a community based intervention regimen for a two-year period.
Electroencephalogram (EEG) activity was measured at the close of the twoyear period. The hypothesis was that children receiving ESDM would show
higher levels of brain activity when viewing faces than when viewing objects
than would children who were receiving the typical community regimen. The
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children were paired with typically developing children at the time of their
EEG assessment. Additionally, a group of typical 4-year-old children was
tested as a comparison group. The children who were receiving the ESDM
intervention regimen were given therapy services for 20 hours per week and
parents were also trained to deliver the intervention regimen. Children who
were in the community based regimen received treatment per usual in their
community and were given evaluation, referrals, as well as resources and
reading material at the start of services as well as two times annually.
On the individual level, the study mentioned above showed that 11 of 15
children in the ESDM group (73%) and 12 of 17 children (71%) in the
control group had higher levels of brain activity on their EEG assessment
when viewing faces as opposed to viewing objects. This is compared to 5 of
14 (36%) children in the community regimen group. At the close of the
study, the children in the ESDM group exhibited brain activity that was
comparable to typically developing children and that was significantly
different from those children who had received the community regimen.
Another study also examining the ESDM, found that this same model
minimizes the need for required therapy following the intervention as well as
achieves the best possible outcomes for the individual in terms of IQ, social
interactions, and brain activity. The study compared 21 children who
received ESDM to 18 children who received a community intervention
regimen during the two years they received their early intervention regimen
as well as the subsequent four years post-intervention.
The ESDM was found to be more expensive to deliver in the early years of
intervention; there was an average monthly cost of about $10,000 per child.
Children on the community regimen had an average monthly cost of
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approximately $5,200. However, the hypothesis was that despite this
greater up-front cost, ESDM would pay off greater dividends on the back end
of things, promoting higher IQ, greater ease in social interactions, increased
brain activity, and reduced therapy, leading to an overall reduced cost.
In the four years following the early intervention, the children who had
received the ESDM required an average of approximately $4,450 in related
services such as speech, physical, and occupational therapy, as well as ABA.
The children who received the community regimen required an average of
approximately $5,550 in related speech, physical, and occupational therapy,
as well as ABA. Study researchers believe this is very telling and differences
in cost may be even broader than study results suggest, as the defining
factors for related expenses were kept fairly narrow. These two studies offer
powerful evidence for the idea that early intervention such as early
screening as well as methods such as ESDM may prove to offer better
outcomes for those individuals who suffer from ASD, and in turn offer
parents and caregivers a better outcome as well. Early intervention may help
a child in the form of increased cognitive and social skills, and a family in
terms of long-term financial savings. Therefore, there is strong evidence to
suggest that early intervention benefits everyone affected by an autistic
spectrum disorder.
Risk Factors Of ASD
There are a number of risk factors that contribute to ASD. There are both
heritable and non-heritable risk factors. These risk factors and associated
outcomes related to ASD with a special focus on neuroanatomical
abnormalities are discussed in this section.57-81,111
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Gender
While ASDs occur in all racial, ethnic, socioeconomic, and gender groupings,
it is well known that males have a greater likelihood than do females of
developing an ASD. The ratio is as high as 5:1. It is not known or well
understood why there is this discrepancy. It is also not known if concrete
differences in development or presentation occur between genders. Males
with ASD do have certain advantages over females with ASD. Research
indicates that females with ASD tend to have lower Intelligence Quotients
(IQ) than do males. Males also show stronger verbal, motor, and social
skills. However, when controlling for language, females display stronger
nonverbal problem solving abilities.
A recent study published in JAMA Pediatrics that examined the records of
more than 625,000 births indicated that birth that involved both augmented
and induced labor was linked to a 35% higher instance of ASD as compared
with labor that did not receive either treatment. The study further indicates
that augmented or induced labor was linked with a smaller increased risk in
boys. In girls, only the augmented birth was linked with a small increased
risk.
The researchers did control for a number of associated factors that have
been shown to increase the risk of autism, such as the health or age of the
mother. In the aforementioned study, researchers added that the study
results did not necessarily indicate cause and effect; rather, there could be
other factors at play that have as yet been unidentified. One of these factors
may be the usage of Pitocin (oxytocin) that is utilized to induce or augment
labor. Approximately 50 – 70% of women who undergo induction in the
United States receive Pitocin injections. There are other contributors that
may be a factor, such as pregnancy conditions or delivery events that lead
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up to the need to induce labor. Further study is needed to determine why
augmented and induced labor is leading to this increased the risk of ASD in
boys.
Genetics
Twin studies provide evidence to support that there is a heritable component
to ASD etiology, although there has not been any particular gene discovered
that predisposes an individual to ASD. Twin studies have been done on both
monozygotic (identical) and dizygotic (fraternal) twins. Monozygotic twins
share all of their genes, whereas dizygotic twins share half of their genes, on
the average. Studies have indicated that there are increased disease
concordance rates among monozygotic twins as compared to dizygotic twins.
A recent study indicated that there is a 60% monozygotic concordance
among 25 sets of twins as compared to a 0% dizygotic concordance among
20 sets of twins. This data suggests that there is a high rate of heritability.
However, the suggestion has been made that estimations from twin studies
may be overstated. Still, the large heritability discovered in twin studies is
supported through familial aggregation studies.
Several studies have also shown a heightened risk for ASD amongst siblings
of cases. This is termed sibling relative risk and is estimated as the ratio of
the risk for ASD among siblings of cases to the risk, or prevalence, in the
general population. The probability that a sibling of a case will develop ASD
is estimated at between 2 % and 6%, although there are some estimates
that are as high as 7% for siblings of male cases and 14% of siblings for
female cases. It is important to remember, however, that these numbers are
entirely dependent on the population prevalence estimates at the time of
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sampling, leading to higher or lower estimations, depending on what is
happening in the population.
There is also another avenue of support for genetic association, and this is
the overlap of ASD with certain genetic disorders such as tuberous sclerosis,
neurofibromatosis, and Fragile X syndrome. To that end, abnormalities on
nearly every chromosome have been associated with one form or another of
ASD phenotype, most notably on chromosomes 7, 15, and X. The most
frequently cited of these are duplications and deletions of the proximal area
of chromosome 15. Breakpoints for chromosomal inversions that result in
features of ASD frequently lie in fragile regions of chromosomes, which lead
to speculations about the possible role of unstable regions of DNA and
submicroscopic chromosomal deletions.
Prenatal and Perinatal Factors
There are specific prenatal factors that may contribute to development of
ASD. One such factor is maternal infections. In several studies, maternal
infections were measured with non-specific indicators, which included
maternal recall of symptoms, such as fever, as well as other information
archived in the medical records. While the studies did not attain statistical
significance for the infection measure, each reported a ratio of odds that
were above 1.0.
There are specific infections that are known to affect developing brains; of
these that have been most commonly known to affect the developing brain
as well as to be commonly associated with ASD is rubella. However, it has
also been shown that other infections, such as herpes, syphilis, and
varicella, as well as the flu, also have a higher than normal association with
ASD. Another factor is prenatal and intrapartum pharmaceutical usage. For
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example, utilizing thalidomide during days 20-24 of gestation has been
associated with increased risk of ASD. This suggests that xenobiotics may
play a role in the etiology of autism spectrum disorder.
Animal studies and case studies reflect findings that valproic acid as well as
other anticonvulsants may increase ASD risk. This is an interesting
association, as these same drugs may prove therapeutic for non-epileptic
children who suffer from autism spectrum disorder.
There are also some preconception factors that may be associated with
development of ASD. For instance, in the 1970s the idea that environmental
exposure to certain chemicals arose. This hypothesis was revisited in the
1990s when parents without incidence of ASD who lived close to plastic
manufacturing plants appeared to have a higher incidence of children with
ASD. However, upon examination, the Massachusetts Department of Public
Health concluded that further investigation of the cases in question was not
needed.
While preconception chemical exposure factors have not been thoroughly
explored, hypotheses of postnatal chemical exposures have been more
thoroughly investigated, primarily through looking at case studies. However,
epidemiologic evidence for specific postnatal environmental exposure that in
turn leads to development of ASD is not substantial. One of the more
comprehensive investigations into the matter was conducted in Brick
Township, New Jersey, where there was a high local presence of ASD near
local landfills. This raised concerns that landfills were leaching chemicals into
the drinking water or into local swimming areas. The Agency for Toxic
Substances and Disease Registry looked into the possible exposure
pathways, as well as evaluated data on levels of trihalomethanes,
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tetrachloroethylene, and thrichloroethylene. While these chemicals were
present in the drinking water at various times during the study, the levels
were found to be low or in locations that did not correspond with the
locations being studied or with the timing of the pregnancies being studied.
Neuroanatomical Abnormalities
Neuroanatomical abnormalities in the brains of individuals with ASD provide
concrete evidence that there is a neurobiological component to ASD, that the
disease is more than just a behavioral disorder with purely environmental
contributions. The neurobiology of the disorder has been examined since the
dawn of the disorder, and both genetic and non-genetic factors have been
shown. However, particular etiologic factors are as yet undefined. Frontal
lobe volume does appear to be decreased in individuals with autism; there
also appears to be a decrease in gray matter (GM) volume in the
orbitofrontal cortex as well as an abnormally thin frontotemporal cortex.
However, conflicting studies have reported that GM volume and thickness is
actually enlarged in these areas.
An increase in GM volume has also been indicated in areas involved in
communicative and social functions, to include the dorsal and medial
prefrontal regions, the lateral and medial temporal area, the parietal
regions, and the auditory and visual association cortices. Likewise,
discrepant white matter (WM) has been indicated in autism, including
regional increases, as have decreases in cross-sectional areas and the
microstructure of the corpus callosum. Concomitant WM disruptions have
been indicated in prefrontal, superior temporal, temporoparietal cortices and
the corpus callosum, but there have also been observations of an increase in
whole brain WM. It is not clear how these anatomic abnormalities related to
domain specific cognitive impairment in social functioning, emotional
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functioning, language deficits, communication deficits, and deficient
executive function.
Microscopic observations of the brains of individuals with ASD have
discovered reduced cell size as well as increased cell-packing density
(meaning an increased number of nerve cells per unit volume) in the
hippocampus, amygdala, mammillary body, anterior cingulate gyrus, and
medial septal nucleus. These structures are recognized as being connected
to one another by interrelated circuits. They also comprise a major portion of
the limbic system. The limbic system is acknowledged to be important to
emotion and behavior, as well as learning and memory. It also plays a large
role in the integration, processing, and generalization of information.
Abnormalities of the limbic system may account for a lot of the major clinical
features of ASD, including language dysfunction as well as social deficits.
Additionally, abnormalities have been located in the cerebellum, where the
amount of Purkinje cells is much reduced, particularly in the posterior and
inferior parts of the hemispheres bilaterally. The vermis microscopically
appears normal. Abnormalities have also been seen in the deep cerebellar
nuclei. These findings appear to vary along with the age of the patient.
Comparable observations have been seen in the inferior olivary nucleus
neurons as well as the neurons of the nucleus of the Diagonal Band of Broca.
The fact the olivary neurons are preserved even in the face of such markedly
reduced number of Purkinje cells indicates that these brain lesions are likely
of prenatal origin. The role of the cerebellum in ASD is not certain. Some
studies show that it may play a role in the modulation of language,
attention, emotional affect, mental imagery, cognition, and anticipatory
planning. Therefore, it is likely that the abnormalities in both the limbic
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system and the cerebellum are important to understanding the clinical
features of autism.
Brain Enlargement
Brain changes prior to the age of 2 may lead to brain enlargement that in
turn leads to ASD. One study conducted by University of North Carolina
(UNC) researchers found that children with ASD who had enlarged brains at
the age of 2 years also had enlarged brains at the ages of 4 and 5. However,
their brain growth was not markedly different than it had been at 2 years
old.
Researchers conducted their original study in 2005, with a follow-up study
conducted in 2011. In 2005, researchers discovered that 2-year-old
participants with ASD had brains that were up to 10% larger than those of
children at the same age that did not have ASD. The follow-up study
indicated that the children with ASD continued to have brain enlargement in
subsequent years, but at the same level they had it at 2 years old. This
finding led researchers to conclude that the changes they detected at the
age of 2 were due to growth prior to that time period. Additionally, the study
discovered that the enlargement was affiliated with an increase in folding on
the surface of the brain, not an increase in gray matter. Researchers posit
that this increase is more than likely genetic and results from an increase in
the proliferation of neurons in the developing brain. The researchers
suggested that the brain overgrowth might be occurring around the child’s
first birthday.
Another study conducted by the University of California Davis MIND Institute
indicated that those children who were later diagnosed with ASD were found
to have an excess of cerebrospinal fluid as well as enlarged brains in infancy.
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This brought up the possibility that these types of brain abnormalities may
serve as potential biomarkers for the early identification of the
neurodevelopmental disorder. The study is the first to link the excess of
cerebrospinal fluid that existed during infancy to the development of ASD. A
potential positive outcome to the study is that it would offer practitioners a
new way to positively screen for ASD, because the brain anomaly would be
detectable utilizing a conventional MRI. Therefore, early detection would be
possible; this is crucial in children who have ASD because it allows for timely
intervention.
Early intervention offers the most hope in decreasing the behavioral and
cognitive impairments associated with ASD and increasing positive long-term
outcomes. This study was conducted on 55 children who were between 6 –
26 months of age. Thirty-three of these children had an older sibling who
had an ASD. Twenty-two were children who had no family history of ASD.
Researchers indicated that the brain anomaly was more significantly
detected in those infants who were high risk and who were later diagnosed
with ASD between 24 and 26 months of age.
Another study examined abnormal brain growth and onset status: early
onset or regressive onset. This particular study examined 2 – 4 year olds
whose status was either non-regressive or regressive. There was also a
control group of non-affected 2 – 4 year olds. Researchers discovered that
abnormal brain enlargement was most commonly discovered in boys with
regressive ASD. Brain size in boys who were non-regressive did was not
different from the control group. Retrospective head circumference
measurements were also taken, and it was discovered that head
circumference in boys with regressive ASD is normal at birth but then
diverges at around 4 – 6 months of age.
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Females who have autism do not have any difference in brain size from
those in the control group. Researchers posit that these results indicate that
there could be certain neural phenotypes that are associated with the
different types of onset of ASD. For instance, the rapid head growth may be
a risk factor for regressive type autism spectrum disorder.
Environmental Factors
There are several environmental factors that may be associated with the
development of ASD. One of these is childhood infection. There have been
reports of sudden onset of ASD symptoms in older children following herpes
encephalitis. There are other infections that can result in secondary
hydrocephalus; for example, meningitis. These infections may lead to
development of ASD. One study indicated that mumps, chicken pox, fever of
unknown origin, and ear infections were significantly associated with an
increased risk of development of an autistic disorder.
Some vaccinations may also increase the risk for development of ASD. A
paper published in 1998 indicated that the measles-mumps-rubella vaccine
might be linked to ASD development. However, epidemiologic studies have
not provided evidence that supports a link between the vaccine and the risk
of developing ASD. Similarly, case study comparisons do not find any
indication of post-vaccination increase in risk of developing ASD. Further, a
population based retrospective study that included more than half a million
children from Denmark who were born between 1991 and 1998, 82% who
had received the measles-mumps-rubella vaccine, discovered no association
between the vaccine and development of autism spectrum disorder.
There are additional concerns over vaccines and ASD, which stem from the
usage of thimerosal, which is a preservative that contains ethylmercury.
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Ethylmercury is itself similar to methylmercury, which is a known fetal
neurotoxin that can cause severe brain injury at high doses and leads to
developmental delays and dysfunction at lower doses. There is limited data
that suggests that higher doses of ethylmercury are similar to higher doses
of methylmercury, and there is no data on low dose exposure to
ethylmercury. There is not much data on the association to date.
Data from the Vaccine Safety Datalink of the Centers for Disease Control and
Prevention indicates weak association between thimerosol related exposure
to mercury and related neurodevelopmental disorders, but not association to
ASD itself. Existing evidence is considered to be inconclusive. Although
Thimerosal has been removed from vaccines, there are still many individuals
alive with ASD who have received vaccinations that contained thimerosal.
Other environmental factors include birth complications, including umbilical
cord complications, fetal distress, injury or trauma during birth, multiple
births, maternal hemorrhage, summer births, low birth weights, congenital
malformations, low 5-minute Apgar score, feeding difficulty, neonatal
anemia, meconium aspiration, hyperbilirubenemia, and ABO or Rh
incompatibility.
Parental age at the time of conception is also a factor; and, this includes the
age of both parents. One study indicated that firstborn children of 2 parents
who were older were 3 times more likely to develop ASD than were third or
later born children of mothers who were 20 – 34 years of age and fathers
who were <40 years of age. Therefore, the risk of ASD increases with both
maternal and paternal age.
Another environmental risk factor may be waiting less than a year between
pregnancies. One study indicated that pregnancies that are closely spaced
are associated with an increase in ASD. The study examined pairs of first
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and second born siblings in California that occurred between 1992 and 2002
and examined ASD diagnoses in these siblings. Results of the study
indicated that children who were born after shorter intervals between the
pregnancies were at an increased risk of developing an ASD, with the
highest risk being associated with pregnancies that were spaced less than a
year apart.
One more environmental risk factor may be not taking prenatal vitamins, as
taking prenatal vitamins has been shown to slightly reduce the odds that a
child will develop ASD. One study examining Northern California families
enrolled in the Childhood Autism Risks from Genetics and Environment
(CHARGE) study concluded that mothers who had children with ASD were
less likely than were mothers of non-affected children to have taken a
prenatal vitamin during the 3 months prior to pregnancy or in the first
month of pregnancy. This led researchers to conclude that the periconceptional use of prenatal vitamins may reduce risk of birthing a child with
ASD, particularly in those who are already genetically susceptible to autism
spectrum disorder.
What is important to note regarding environmental risk factors is they do not
affect a child in a vacuum. Many children are exposed to environmental risk
factors without developing ASD. This leads researchers to conclude that if a
child is genetically predisposed to ASD, for example, then these types of
environmental risk factors may increase the risk of development of an ASD.
Studies have indicated that there are other environmental factors - such as
the maternal use of antipsychotics and mood stabilizers – that may increase
the risk of development of ASD. However, the risk must also be weighed
against the mother’s need, which can also affect the health of the child she
will be having.
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Most risk factors that are not yet well documented may only increase the
risk of development of ASD slightly as compared with other risk factors, such
as genetic predisposition, making it difficult to pinpoint how, exactly,
environmental factors contribute to the larger overall picture of each single
ASD diagnosis.
Diagnosis Of ASD
Autism spectrum disorder is characterized by extensive difficulties since
early childhood that includes communication and restricted behaviors in
social situations, as well as repetitive attention and behaviors. While the ASD
research has typically focused on children, there is increasing awareness
that ASD as a neurodevelopmental disorder is lifelong and impacts adults in
social and work settings. Diagnosing ASD is no easy task, particularly since
ASD may mimic other disorders, and vice versa. Hence, what is required of
practitioners is making a differential diagnosis, or differentiating between
conditions that share symptoms. One such example is ASD and ADHD, which
look remarkably similar. However, its important for the clinician to be aware
that in the DSM-5 the core symptoms of an ASD diagnosis do not overlap
with core symptoms of ADHD, although it is widely accepted that a
significant percentage of children with ASD have symptoms of ADHD.
Recent interest and research on ASD-ADHD symptom overlap led to the
removal of the DSM-IV restriction that prevented a dual diagnosis of ASD
and ADHD. As suggested earlier, in DSM-5, clinicians may acknowledge and
diagnose overlapping symptom presentations of ASD and ADHD. The
Centers for Disease Control and Prevention has released a handout outlining
differences to allow practitioners to make a differential diagnosis between
ASD and commonly confused conditions. These conditions are generally
reviewed in this section.47-56,64,68,69,112-116
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Developmental Delays and Intellectual Disabilities
Those with intellectual disabilities or developmental delays may display
autistic features but may not meet the criteria for ASD. Those with ASD may
have an intellectual disability or be of normal intelligence. Those with
intellectual disability generally have better social and communication skills
than do those with ASD who are of the same cognitive level.
Fetal Alcohol Syndrome Disorders
There is an increase in risk of ASD as well as other neurodevelopmental
disorders in those children who were exposed to alcohol in utero.
Genetic Syndrome
There may or may not be a family history, although this is dependent upon
the specific disorder. Should dysmorphic features be present, genetic
disorders should be considered. There are certain neurogenetic disorders
that tend to be associated with ASD, and include the following conditions.

Fragile X - includes intellectual disability, large ears, macrocephaly,
large testicles, hyptonia, and joint hyperextensibilty.

Tuberous sclerosis – includes hypopigmented macules, seizures,
central nervous system hamartomas, and intellectual disability.

Angelman syndrome – includes developmental delays, wide-based
ataxic gait, progressive spasticity, hypotonia, and seizures.

Rett syndrome – is a disorder mainly seen in girls. There is an
apparently normal development over the first 5 – 48 months of life
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that then results in microcephaly. The child then loses the previously
acquired hand skills and often develops hand wringing stereotypies.
Frequently seizures develop.
Hearing Impairment
Often this can be due to a history of fluid or recurrent otitis media. Those
with hearing impairments frequently have speech delays but typically may
use a compensatory nonverbal type of communication. These children will
make eye contact and utilize facial expression. Those with ASD however can
sometimes be described as having selective hearing (they may not respond
if someone calls their name, but they become overly sensitive to other
noise). Those with hearing impairments are generally under-responsive to all
noises, although this may be somewhat variable dependent upon the degree
of hearing loss.
Mental Health Disorders
Mental health disorders comprise a fairly broad category of differential
diagnoses, with variable symptomology that depends upon the specific
diagnosis. Some of the diagnoses not uncommonly seen in individuals with
ASD are outlined below.
Obsessive Compulsive Disorder (OCD)
The obsessive thoughts and repetitive actions seen in obsessive compulsive
disorder may appear very similar to the kinds of ritualistic behaviors and
motor stereotypies seen in ASD.
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Anxiety Disorders
Those with anxiety problems may be hesitant to interact with other people.
They may have problems with change or transitions. Those with anxiety are
still socially related, however, and they still have appropriate social insight,
whereas someone with ASD does not.
Depression
Depression may present in a variety of ways, and particularly in children.
Children may be withdrawn or they may isolate themselves from others.
They may display a blunted affect and avoid eye contact, which are all signs
of ASD as well.
Attention Deficit Hyperactivity Disorder (ADHD)
Those with ADHD can have impairments in social skills as a result of
hyperactivity or impulsivity. They may have a hard time sustaining a
conversation as a result of inattention. Those with ASD also often have
issues with hyperactivity, impulsivity, and inattention.
Oppositional Defiant Disorder (ODD)
The behavioral problems seen in those children with ODD are generally
intentional. Many children will have temper tantrums at some point;
however, children who have ASD are more likely to have tantrums that are
associated with anxiety that results from transitions or tantrums that appear
to be for no reason.
Tourette Syndrome
The tics seen with Tourette syndrome may appear to be similar to some of
the motor stereotypies seen with ASD. Those with Tourette syndrome will
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generally not have the social or communication problems seen with ASD
though. However, there may still be some isolation due to embarrassment or
avoidance of peers, which should be taken into account.
Psychosocial factors are important to consider when evaluating individuals
with ASD and co-occurring mental illness, for example, issues of abuse and
neglect. Those who have a history of psychosocial factors such as neglect or
abuse may be very withdrawn or hesitant to interact with other people. They
may also display skills regression, such as a loss of language, or they may
display behavioral problems.
Sensory Problems
Those with ASD often times have sensory issues such as being
hypersensitive to loud noises or avoiding certain textures in foods. A person
without ASD but who has sensory impairments will not have the
accompanying social and communication impairments.
Speech and Language Disorders
Those with speech and language disorders will compensate with nonverbal
forms or communication. These nonverbal compensations include pointing
and gestures. There is a lack of severe social deficits, although there may be
some social impairment that results from communication difficulties. In a
person with ASD, nonverbal communication and social skills is often lacking.
Level 1 Screening
Evidence based recommendations for routine Level 1 developmental
screening for ASD are important in the evaluation and treatment planning
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phases. All clinicians and health associates need to be knowledgeable and
consistent about the following when caring for the individual with ASD.

Developmental observation should be conducted at all well-child visits
from infancy on through school age and at any age thereafter if there
are concerns that are aroused regarding social interactions, learning,
or behavior.

The recommended developmental screening tools include: Ages and
Stages Questionnaire, BRIGANCE(R) Screens, the Child Development
Inventories, and the Parents’ Evaluations of Developmental Status.

Further evaluation is needed should a child fail to meet any of the
following milestones:
- Failure to babble by 12 months
- Failure to gesture – such as pointing or waving goodbye by
12 months
- Failure to speak in single words by 16 months
- Failure to speak in two word spontaneous phrases by 24
months
- Loss of language or social skills at any age

Siblings of those children who have ASD must be carefully monitored
for acquisition of social, play, and communication skills as well as the
occurrence of maladaptive behavior. Screenings should be conducted
not only for ASD related symptoms but also for learning difficulties,
language delays, social problems, and anxiety and depressive
symptoms.
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
ASD screening should be conducted on all children who have failed
routine developmental screening procedures utilizing one of the
validated instruments: the Checklist for Autism in Toddlers (CHAT) or
the Autism Screening Questionnaire.

Laboratory investigations that are recommended for all children with
developmental delays or ASD include audiological assessments and
screening for lead exposure. Early referrals for assessments should
include behavioral measures, assessments of middle ear function, and
electrophysiological procedures. Lead screening should be conducted
in any child who has developmental delay and pica, and additional
periodic screening should be conducted if the pica (an abnormal
craving for non-food substances, i.e., dirt, paint or clay) persists.
Level 2 Screening
Evidence based recommendations for routine Level 2 diagnosis and
evaluation for ASD involve the following:

Genetic testing in children with ASD, in particular high-resolution
chromosome studies and DNA analysis for Fragile X should be
performed should there be a presence of mental retardation or if there
is a family history of Fragile X or an undiagnosed mental retardation,
or if there are dysmorphic features present.

Selective metabolic testing should be performed if the following are
present: lethargy, cyclic vomiting, or early seizures, or if evidence of
mental retardation is evident or cannot be ruled out.

There is no evidence at the moment to indicate that routine clinical
neuroimaging can assist in evaluating or diagnosing ASD. Additionally,
there is not sufficient evidence to support the idea that hair analysis,
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celiac antibodies, allergy test, thyroid function tests, or erythrocyte
glutathione peroxidase studies can assist in evaluation or diagnosis.
Another important consideration in the evaluation and treatment of
individuals with ASD relate to Consensus Based Principles of Management.
There are some recommendations that are based on consensus agreement,
and, these are listed below.
Surveillance and Screening
In the United States, states are required to follow Public Law 105-17, the
Individuals with Disabilities Education Act Amendments of 1997-IDEA’97,
which orders immediate referral for a free appropriate public education for
eligible children with disabilities from the age of 36 months, and early
intervention services for infants and toddlers with disabilities from birth
through 35 months of age.
The diagnosis of ASD should include the usage of an instrument that has at
the least a good specificity for ASD and a moderate sensitivity. Sufficient
time should be allotted for standardized parental or caregiver interviews
regarding concerns and child behavioral history, as well as time given to
direct and structured observation or social and communication interactions
and play.
Recommended instruments include the use of rating scales and diagnostic
parental interviews; examples are outlined below:

The Gilliam Autism Rating Scale:
This is an instrument that assists both parents/caregivers and
practitioners in identifying and diagnosing ASD by examining
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stereotyped behaviors, communication, and social interaction in
individuals. This assessment consists of 42 items that describe
behaviors characteristic of individuals with ASD. The assessment is
utilized for identification of ASD in individuals, of the ages 3 through
22 years.

The Parent Interview for Autism:
This assessment was designed to measure ASD symptom severity
across a wide range of behavioral domains. The main point of this
assessment is to assess behavioral change in young children.

The Pervasive Developmental Disorders Screening Test – Stage 3:
This assessment may actually screen for several ASD disorders in
children as young as 18 months. This assessment is designed to be a
parental reporting measure, and the assessment facilitates early
identification in order to offer parents, caregivers, and practitioners
the opportunity to implement early intervention methods.

The Autism Diagnostic Interview-Revised:
This assessment is a structured interview that is utilized for diagnosing
ASD as well as distinguishing ASD from other developmental disorders
and planning treatment. The assessment is designed for children and
adults with a mental age above 2 years.

Diagnostic Observation Instruments (these are differentiated further):
Childhood Autism Rating Scale This is a behavioral rating scale frequently utilized to diagnose
ASD. The scale rates children on a scale of 1 through 4 on
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various criteria and comes up with a composite score that rates
the child from non-autistic to severely autistic.
Screening Tool for Autism in Two-Year-Olds (STAT) The STAT is an empirically based, interactive measure developed
to screen for autism in children between 24 and 36 months of
age. Community service providers who have experience with
autism and work with young children in assessment or
intervention settings design it for use.
The Autism Diagnostic Observation Schedule-Generic This assessment is observation based and examines the social
and communication based behaviors that are frequently delayed
in those that have ASD. The assessment consists of four 30minute observational sessions that contain communication,
socially interactive, play, and imaginative elements to test the
child.
Medical and neurologic evaluation of the individual with ASD should include
the childhood developmental history and milestones. Also, the history should
reflect if there was regression in early childhood or later on in life;
encephalopathic events, attention deficits, seizure disorders, depression or
mania, behaviors such as irritability, self-injury, sleep or eating
disturbances, or pica. A neurologic and physical examination in the child
should include longitudinal measurements of the circumference of the head
as well as examination of the head for unusual features that may suggest a
need for a genetic evaluation, neurocutaneous abnormalities, gait, reflexes,
tone, cranial nerves, and a determination of mental status that includes
verbal and nonverbal language and play.
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Evaluation and monitoring of ASD involves multivariate considerations and
approaches, as well as interdisciplinary ASD specialists to ensure best
outcomes. Both the immediate and long term evaluative and monitoring
approach of those who suffer from ASD requires a multi-disciplinary
approach which may include one or more of the following professionals:
psychologists, speech-language therapists, neurologists, audiologists,
pediatricians, occupational therapists, child psychiatrists, and physical
therapists. In addition, educators or special educators may also be involved.
Those individuals who have mild ASD must also receive adequate
assessment and diagnosis.
Reevaluation within 1 year of the initial diagnosis and continual monitoring is
one expected aspect of clinical practice. While there is not a need to repeat
extensive diagnostic tests, follow-up visits may be helpful when it comes to
addressing behavioral, environmental, and developmental concerns.
Common and helpful evaluations and developmental tests for ASD are
highlighted below.

Speech, language, and communication evaluation:
A speech, language, and communication evaluation should be
conducted on all children who fail a language developmental screening
conducted by a speech-language therapist who is trained in evaluating
children who have developmental disabilities. Comprehensive
assessments of pre-verbal and verbal individuals should take into
account such factors as age, cognitive level, and socio-emotional
ability. These assessments should examine receptive language and
communication, expressive language and communication, voice and
speech production, and the collection and analysis of spontaneous
language.
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
Cognitive and adaptive behavioral evaluations:
A psychologist or other trained practitioner should conduct cognitive
evaluation on all children with ASD. Cognitive instruments must be
appropriate for both the chronological and mental age and provide a
full range of standard scores and current norms that are independent
of social ability, include independent measures of both nonverbal and
verbal abilities, and provide a full index of ability. A measure of
adaptive functioning must be collected for any child who has been
evaluated as having an associated cognitive handicap.

Sensorimotor and occupational therapy evaluations:
An evaluation of sensorimotor skills should be considered. A qualified
professional such as an occupational therapist or physical therapist
should conduct this assessment. The assessment should include an
examination of both gross and fine motor skills, sensory processing
abilities, praxis, unusual and stereotyped mannerisms, and the impact
of all of these on the individual’s life. An occupational therapy
evaluation is suggested when the deficits that are present exist in
functional skills or in the areas of leisure/play, self-maintenance in
daily living activities, or in productive school or work tasks. Sensory
Integration and Praxis Tests may be utilized on a case-by-case basis to
detect certain patterns of sensory integrative dysfunction, although
these are not always routinely warranted in all evaluations of those
children who suffer from ASD.

Sensory Integration and Praxis Test (SIPT):
This assessment is a battery of 17 subtests that require children to
perform a variety of motor tasks, either visual, tactile, kinesthetic, or
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motor, to assess sensory integration. The assessment is intended for
ages 4 years through 8 years, 11 months.

Neuropsychological, behavioral, and academic assessment:
These types of assessments should be performed on an as needed
basis in addition to cognitive assessments. These assessments should
include relationships and social skills, educational functioning, learning
style, problematic behaviors, sensory functioning, self-regulation,
motivation and reinforcement.
There should also be an assessment of family resources performed by
a qualified psychologist or other professional to include an assessment
of the parent or caregiver’s understanding of their child’s condition as
well as familial strength and talents, stressors and adaptations, and
supports and resources. This also offers the practitioner the
opportunity to offer the family the proper counseling and education.
Psychological Assessment Tools
Autism Diagnostic Interview – Revised (ADI-R)
The Autism Diagnostic Interview – Revised (ADI-R) is a clinical diagnostic
tool utilized to assess autistic disorder in both children and adults. The ADI-R
offers a diagnostic algorithm for autism that is described in the ICD-10 and
in the DSM. This diagnostic tool focuses on autistic behaviors in three
primary areas: 1) qualities of reciprocal social interactions,
2) communication and language, and 3) restricted and repetitive
stereotyped interests and behavior. The ADI-R is appropriate for use in with
children and adults who have a mental age of 18 months and older.
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The tool contains 93 items. Beyond the three main areas of focus the tool
also includes other areas relevant for treatment planning; for example, selfinjury or over-activity. Responses to items are scored by a clinician, which is
based on the parent or caregiver description of the child or adult individual
behavior. Items are organized around content area, with definitions of
behavioral items being provided. For example, in the area of communication,
Delay or total lack of language not compensated by gesture is broken down
further into behavioral items that are specific, such as pointing to items or
expressing interest, nodding or the head, or expressing conventional
gestures.
All items in the ADI-R ask about current behavior. The exception to this is
found with a few behaviors that only occur within specific age periods. In
these items, specific age limitations are given. For instance, items that ask
about group play are referring only to behavior displayed between ages 4
and 10. In addition to inquiring about current behavior, items focus on time
periods in which behaviors are likely to be pronounced – this is generally
between the ages of 4 to 5 years of age.
The tool begins with an introductory question that is followed by questions
about the participants’ early development. After the introductory question,
the following 41 questions regard verbal and nonverbal communication.
Questions 50 – 66 specifically regard social development and play. There are
included questions that regard interests and behaviors; and, there are 14
questions that regard “general behavior”. The final 14 questions in the ADI-R
include questions about motor skills, memory skills, over-activity and
fainting.
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The ADI-R tool generates scores in each of the three main content areas as
stated above. Elevated scores are indicative of problematic behavior in that
particular area. Scores are based on a clinicians’ judgment, with a clinician
giving a score of 0 – 3 for each item: a score of 0 is awarded when behavior
of the type specified in the coding is not present; a score of 1 is awarded
when behavior of the typed specified is present in an abnormal form, but not
sufficiently severe or frequent to meet the criteria for a 2; a score of 2 is
indicative of definite abnormal behavior; and, a score of 3 indicated extreme
severity of the behavior in question. Additionally, there are also scores of 7,
which indicates definite abnormality in the general area of the coding, but
not of the type specified; scores of 8, which indicates not applicable; and,
scores of 9, which indicates not known or asked. All of these scores are
converted to 0 in the algorithm.
A child is classified as autistic when the scores in all three main content
areas meet or exceed certain specified cutoffs and the onset of autistic
spectrum disorder is evident by 36 months of age. The same algorithm is
utilized for children who have mental ages of 18 months through adulthood,
with 3 versions that contain minor modifications, which are a:

Life-time version

Version that is based on current behavior

Version utilized for children under age 4
This algorithm specifies a minimum score in each main content area to lead
to a diagnosis of autism. There are some practical issues to consider when
utilizing this diagnostic tool; such as, this interviewer-based tool requires
quite a bit of training in both administration and scoring. The test, however,
when administered by a well-trained professional, only takes approximately
90 minutes for children and slightly longer for adults. The test has a strong
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background of internal validity as well as inter-rater and test-retest
reliability.
Autism Diagnostic Observation Schedule (ADOS)
The Autism Diagnostic Observation Schedule (ADOS) is a semi-structured
assessment tool that examines communication, social interaction, and play
in individuals who are suspected of having autism spectrum disorders. The
ADOS consists of four different modules, each of which is appropriate for use
for testing on children and adults of different developmental and language
levels.
The ADOS is a standardized testing tools and is comprised of standardized
activities that allows the administrator to observe the presence or nonpresence of behaviors that have been determined to be important to
extending a diagnosis of ASD. The test is administered through the
administrator selecting the module that is most appropriate for the
individual’s language level and chronological age. The participant’s response
is then recorded within each module and overall ratings are made at the end
of each schedule. The ratings may then be utilized to formulate a diagnosis
by way of utilizing an algorithm for each module.
The ADOS basically provides a 30 – 45 minute observation period in which
the administrator of the test presents the participant with a number of
opportunities to exhibit typical ASD behaviors by pressing the individual to
communicate through social interaction and language skills. The modules
offer social-communicative sequences that unite a series of both
unstructured and structured situations, each of which offers a different
combinations of the above-mentioned presses for social behaviors.
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Module 1 is designed for individuals who do not regularly utilize phrase
speech. Materials in this module have been selected for younger children,
although materials from other modules may be substituted if the
administrator so desires.
Module 2 is designed for individuals who have some phrase speech but do
not possess verbal fluency. Module 3 is designed for individuals who are
verbally fluent, which is defined as having the expressive language of a
typical four-year-old child. Module 3 also includes tasks such as playing with
age appropriate toys – this typically encompasses up to ages 12 – 16.
Module 4 is much the same as module and includes many of the same tasks;
and, Module 4 is intended primarily for verbally fluent adolescents and
adults. The biggest difference between module 3 and module 4 is in whether
information about social communication is more suitably acquired during
playtime or during a conversational interview.
The four modules overlap in terms of activities and together they contain a
variety of tasks. These tasks range from observing the way a young child
requests that the administrator continue to blow up a balloon in Module 1 to
a conversation about a social relationship in Module 4. Modules 1 and 2 are
frequently conducted whilst moving about different places in a room whereas
Modules 3 and 4 are frequently conducted whilst sitting at a table and
consist of more conversation and language that do not come along with
physical context.
The superficial appearance of each of the different modules may seem quite
varied; however, the general principles involved in the deliberate variation of
the administrator’s behavior when it comes to utilizing a hierarchy of both
structured and unstructured behavior remain the same. Standardization lies
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in this hierarchy of behavior that is employed by the administrator and the
types of behaviors that are taken into consideration in each activity during
the ratings. The activities work to structure the interaction.
The ADOS offers practitioners the opportunity to observe social and
communication behaviors in standardized and well documented contexts,
and the primary goal of the ADOS is to provide a standardized context in
which to observe social and communicative behaviors of participants across
the life span in order to aid with diagnosis. For diagnostic purposes, use of
the ADOS should also be accompanied by other information, in particular a
detailed observational history from parents or caregivers when possible.
Other Questionnaires
There are a number of other developmental and behavioral screening tools
available. These are identified below.47-56

Ages and Stages Questionnaire (ASQ-3):
The ASQ-3 covers ages 1 month through 66 months. There are 21
questionnaires and scoring sheets for the following childhood ages: at
2, 4, 6, 8, 9, 10, 12, 14, 16, 18, 20, 22, 24, 27, 30, 33, 36, 42, 48,
54, and 60 months of age. The ASQ-3 screens several different areas,
which include communication, fine motor, gross motor, personal and
social skills, and problem solving. The ASQ-3 is completed by parents
and caregivers and is scored by a professional or clerical worker
trained at scoring the assessment.
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
Ages and Stage Questionnaire: Social-Emotional (ASQ: SE):
The ASQ: SE covers ages 3 through 66 months. There are 8
questionnaires for use at 6, 12, 18, 24, 30, 36, 48, and 60 months of
age. The ASQ: SE screens several different areas, including selfregulation, communication, autonomy, interaction with people,
compliance, adaptive behaviors, and affect. The ASQ: SE is completed
by parents or caregivers and is scored by a professional.

Brief-Infant-Toddler Social-Emotional Assessment (BITSEA):
The BITSEA covers ages 12 months through 36 months. The BITSEA is
a social emotional screener that may be administered by a parent or
caregiver and is scored by a professional with a minimum qualification
of a Master’s degree in a related field.

Child Development Inventory:
The Child Development Inventory covers ages 0 through 6 years and is
a 300-item questionnaire that parents may complete either in the
home or in a professional’s office. The purpose of this assessment is to
record observations of the child’s behavior. This assessment screens
several different behavioral areas, including social, gross motor, fine
motor, self-help, language comprehension, expressive language,
numbers, and letter. The assessment also includes a General
Development Scale as well as 30 items designed to identify a parent or
caregiver’s concerns about their child’s growth, health, hearing, vision,
behavior, and general development.
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
CSBS DP Infant-Toddler Checklist:
The CSBS DP Infant-Toddler Checklist is designed to assess children
ages 6 months through 24 months. Components include a 1 page
Infant-Toddler Checklist, a 4 page Caregiver Questionnaire, and a
Behavior Sample, which is conducted while the parent and child
interact. The CSBS DP Infant-Toddler Checklist screens several
different language predictors, including emotion and eye gaze,
gestures, words, object use, communication, sounds, and
understanding. Caregivers or professionals who are trained to assess
young children, such as speech language therapists or early
interventionists, conduct the assessment; a professional scores the
results.

Parents Evaluation of Developmental Status (PEDS):
The PEDS is an assessment designed for children ranging in age from
0 through 8 years. PEDS is considered one of the briefest yet accurate
methods for early detection of ASD. The screening consists of 10 short
questions that parents complete.
Parents Evaluation of Developmental Status helps parents decide if
1) a child needs a developmental or mental health assessment, and if
they do, then a determination is made of the kind of testing needed;
2) parents need advice, a determination is made on what topics for
which advice is required; 3) a child needs to be watched over time to
offer prompt attention for emerging potential problems; and,
4) reassurance and monitoring is what is required or if there is
something more that is required. All children at high risk on PEDS
should be referred and monitored.
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Parents Evaluation of Developmental Status takes only approximately
2 minutes to complete and may be completed even in practitioners’
waiting rooms. There is a high specificity to this assessment. Further,
PEDS is an assessment that may be administered online.

Parents Evaluation of Developmental Status-Developmental Milestones
(PEDS: DM):
The PEDS: DM is an assessment designed for children from 0 to 7-11
years of age. This assessment may be used either with the original
PEDS assessment or on its own. Each item assesses a different
developmental domain, including fine motor and gross motor skills,
expressive and receptive language skills, self-help, social-emotional
skills, and for those children who are older, skills such as reading and
math. If there is failure on an item, it often predicts difficulties in that
domain. The assessment is designed with a high specificity and to
provide clear criteria regarding when to refer. There is value in utilizing
the PEDS and PEDS: DM together, as the two assessments combined
have only 16 to 18 questions to answer per visit. The assessment is
designed to address parental or caregiver concern as well as focus the
visit. It also helps ensure collaboration between the parent and the
practitioner in that it puts the two together on the same page in terms
of where treatment is headed.

Social-Emotional Growth Chart:
The Social-Emotional Growth Chart takes approximately 10 minutes to
administer and is appropriate for ages 0 through 42 months. The
assessment consists of a questionnaire that is to be completed by the
parent, caregiver or educator in order to help the practitioner come to
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an understanding about how the child utilizes all of his or her
capacities to deal with feelings, meet needs, think, and communicate
with others.
The questionnaire contains 35 items that are ordered developmentally
and according to the age at which the item is usually mastered. The
items are rated utilizing a 5-point scale. This assessment is given as a
preliminary step and is utilized for early identification of ASD. It may
be utilized to determine if further assessment or a referral is needed
and may also help in monitoring growth or in planning intervention.

Modified Checklist for Autism in Toddlers (M-CHAT):
The M-CHAT is designed for children ages 16 through 30 months. This
assessment is administered to assess a toddler’s risk of development
of ASD and may be administered by parents, caregivers, or
practitioners. The main fault of the M-CHAT is that it has a high rate of
false positives; this stems from the fact that one of the main goals of
the assessment is to maximize specificity. Therefore, not all children
who score as being at risk for ASD will actually be diagnosed with ASD.
To adequately address this issue, a structured follow-up interview
should be conducted following the administration of this test.

Autism Spectrum Screening Questionnaire (ASSQ):
The ASSQ is a 27-item checklist that may be completed by parents or
caregivers that is designed to assess children ages 7 through 16. This
assessment is designed to examine symptoms that are characteristic
of high functioning ASD, such as Asperger syndrome, in those children
who have either normal intelligence or mild mental disability.
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
Social Communication Questionnaire (SCQ):
This assessment is designed to assess children ages 4 and older and is
a cost effective way to screen for ASD, so long as the individual’s
mental age exceeds 2 years of age. The SCQ assists in evaluating
communication skills as well as social functioning in those children who
may have ASD. A parent or caregiver completes the assessment. This
assessment may be completed under ten minutes. The SCQ is
available in two formats – Lifetime format and Current format. Each of
these formats is composed of 40 yes or no questions.
The Lifetime format focuses on the child’s developmental history. The
Current format moves from developmental history to the child’s
present status and examines the child’s behavior over the most recent
previous 3 months. The purpose of the Lifetime format is to aid in
screening and referral. The purpose of the Current format is to aid in
treatment planning, educational intervention, and to map and measure
changes over time. The SCQ may also be utilized to compare
symptoms across groups – for example, to compare symptoms across
groups of children with a variety of language disorders.
Magnetic Resonance Imaging
Magnetic resonance imaging (MRI) has most recently been studied to
determine the complex aspects of autism spectrum disorder. While the
primary findings of MRI studies are controversial and at times contradictory,
MRI imaging provides clear imaging of the main anatomical structures of the
brain associated with known ASD pathology throughout the lifespan. In
autistic individuals, the MRI helps to study structural brain changes and can
measure specific brain structure and calculate tissue volume. As utilization of
MRI-based methods expands in the diagnosis of ASD, it is hoped that this
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method of testing will enhance universal characteristics of brain
development in ASD children and adults. Future research on the benefit of
MRI technology to diagnose ASD is needed that will likely require a
longitudinal study of a younger population from the onset of autistic
symptoms as they age.
ASD And Comorbidities
A significant number of individuals with a diagnosis of autism spectrum
disorder will develop a comorbid medical or psychiatric condition. Comorbid
conditions may appear at any time during the lifespan, and will impact the
course of care for an autistic child or adult. Clinicians will need to work
collaboratively to determine the best treatment and outcome for patients
diagnosed within autism. This section covers some of the common comorbid
conditions known to occur with autism spectrum disorder.57-77
Epilepsy
Autism spectrum disorder and epilepsy often co-occur. Approximately 30%
of those children with autism have epilepsy, and approximately 30% of
those children with epilepsy have autism. When these two disorders co-occur
they are often also associated with intellectual disability. While both ASD and
epilepsy are considered heterogeneous disorders with multiple
pathophysiologies and etiologies, there may still be some common
underlying pathophysiological mechanisms that can help to explain why
these two conditions frequently co-occur. For example, it has been proposed
that both ASD and epilepsy are disorders of synaptic plasticity that result in
excitation and inhibition imbalances in the developing brain.
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Synaptic plasticity refers to the process where synapses, which are the
connections between two neurons, get strengthened through experience or
practice. Synaptic plasticity relies on a variety of proteins whose genes are
interrupted in certain genetic conditions that are associated with autism and
epilepsy. Many of these conditions are also co-morbid with ASD and epilepsy
and include such conditions as Rett Syndrome, Fragile X, and tuberous
sclerosis.
The effect of seizures and epileptogenesis on the developing brain is
important to understand. There are a number of possible effects of seizures
and epileptogenesis on the developing brain on synaptic plasticity. Emerging
evidence indicates that seizures that occur early on in life may alter the
functioning of neurotransmitters and intrinsic neuronal properties of the
brain, which may possibly contribute to cognitive impairments as well as
learning impairments.
Gamma-Aminobutyric acid (GABA) is the primary inhibitory neurotransmitter
in the brain, and the GABA-A receptors are those that mediate most fast
synaptic inhibition. Changes in inhibitory neurotransmission have been
known to affect learning, a common difficulty seen in those with ASD.
Changes in excitatory neurotransmission can also lead to behavioral or
learning differences after seizures early in life.
Glutamate is the main excitatory neurotransmitter in the brain, whose
activity is mediated by a number of receptor subtypes, including N-MethylD-aspartate (NMDA) and non-NMDA, ionotropic receptors and metabotropic
receptors. Excitatory signaling is critical for different types of long-term
potentiation (LTP) and hippocampal learning. It has been found in some
studies that mutant mice that lack subtypes of α-Amino-3-hydroxy-5-
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methyl-4-isoxazolepropionic acid (AMPA) or NMDA receptors have impaired
learning. Further, changes in neuromodulatory pathways can also contribute
to behavioral or learning differences following early-life seizures.
Tuberous Sclerosis
Tuberous sclerosis also frequently co-occurs with both ASD; a high cooccurrence is also seen with epilepsy. Tuberous sclerosis is a
neurocutaneous disorder that is characterized by benign tumors and mental
retardation, as well as epilepsy and autistic disorder. This syndrome results
from mutations of tuberin or hamartin; together these inhibit the
phosphatidyl inositol 3-kinase (PI3) signaling pathway involving the
mammalian target of rapamycin (mTOR) as well as a cascade of other
downstream kinases that stimulate cell growth and proliferation, and protein
translation.
Mutations of tuberin of hamartin in tuberous sclerosis lead to a
hyperactivation of mTOR and downstream signaling pathways, and results in
increased cell growth and proliferation and abnormal gene expression. The
precise mechanisms of ASD in tuberous sclerosis are not known at this time.
However, it is believed that ASD may stem from persistent seizures that
occur early in the development of certain regions of the brain, such as those
responsible for social perception and communication, located in the left
temporal lobe. Further, alterations in expression of certain glutamate and
GABA-A receptor subunit as well as decreases in glutamate transporter GLT1 may help bring about imbalances in excitation and inhibition.
Sensory Processing Disorder
Unusual sensory processing has been reported in ASD; however, most of the
research has been focused on sensory processing disorders in children.
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Previous studies show that unusual sensory responses are present in most
children who have ASD; this has been identified since the earliest description
of ASD. These sensory abnormalities have primarily been described in
relation to vision, taste, sound, touch, and smell, to include hyper and hypo
sensitivity as well as general sensitivity overload. Additionally, responses
have been reported as early as 6 – 12 months of age and are considered one
of the earliest indicators of ASD in young childhood.
It is accurate that many individuals with ASD focus on details. One study
indicates that this particular trait may lie beneath stereotyped routines as
well as repetitive interests and behaviors. The study examined 29 children
who were diagnosed with either high functioning autistic disorder or
Asperger syndrome who had completed the Embedded Figured Test (EFT).
Parents or caregivers completed the Short Sensory Profile and Childhood
Routines Inventory. The study found significant correlation between the
degree of the amount of restricted and repetitive behaviour that was
reported by parents or caregivers and the degree of sensory abnormalities.
Another study that examine sensory processing in adults utilizing the
Adult/Adolescent Sensory Profile (AASP) indicated that 94.4% of the
participants being studied reported extreme levels of sensory processing in
at least one sensory quadrant of the profile. Further, analysis of the patterns
of sensory processing impairments suggests that individuals with ASD may
experience extremely different, although severe sensory processing
abnormalities. It is important to note that sensory processing abnormalities
in ASD extend across the lifespan; they are not simply present only in
childhood. Therefore, it is essential that the practitioner treat these issues
with care in both children and adults.
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Fragile X Syndrome
Fragile X syndrome is considered the most frequent form of inherited mental
retardation. Further, those with Fragile X and ASD may have a significantly
lower IQ than do those with Fragile X who do not have ASD. Fragile X
frequently presents with ASD as well as epilepsy. A hallmark of Fragile X
pathology is a hyperabundance of dendritic spines with long, thin and
immature morphology, and Fragile X is a result of an expanded triplet repeat
in the FMR1 gene.
Fragile X is a genetic, and therefore medical, diagnosis. This is an important
distinction from ASD, which is a behavioral diagnosis. However, when it is
associated with Fragile X, autism is caused by the genetic changes in the
Fragile X gene. This may be compared to other genetic conditions such as
Down syndrome; individuals with Down syndrome may have related
conditions such as autism or hearing loss. If a child is first diagnosed with
ASD and then subsequently diagnosed with Fragile X syndrome, it is
considered that the cause of the ASD is known, the cause being Fragile X.
It is estimated that between 15 – 33% of children who have Fragile X also
have ASD. Many of these children are considered high functioning, as while
they do not meet the criteria for full autistic disorder, they do exhibit autistic
like symptoms, such as social anxiety, poor eye contact, sensory issues,
hand flapping, and shyness. ASD is more common in males with Fragile X
than it is in girls with Fragile X. In comparison, it is estimated between 2 –
6% of children who have ASD also are diagnosed with Fragile X. This leads
researchers to believe that all children with ASD, both male and female,
should be genetically tested for Fragile X as well as other genetic causes of
autism spectrum disorder.
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Anxiety Disorders
The relationship between ASD and anxiety is not well understood at the
moment. However, it is evident that anxiety is a big problem for a large
number of those individuals who suffer from ASD. One review estimates that
comorbidity ranges from 11 – 84%. Certain variables have an influence on
each individual’s experience of anxiety; these include the type of ASD
diagnosis, cognitive function, and level of social impairment.
There are a number of questions about the presentation and the course of
anxiety in children with ASD, as the development and the course of specific
types of anxiety as seen in ASD patients is not well understood. While the
presentation of anxiety in children with ASD is in some ways similar to the
presentation in children without ASD, some studies have found marked
differences. For instance, phobias may be more common among younger
children who have ASD, whereas disorders such as social phobia or OCD
may be more common in adolescents with ASD.
It is also thought that anxiety symptoms are often overlooked or mislabeled
in children with ASD, primarily because children with ASD frequently lack the
ability to express themselves in an emotionally accurate way. Additionally, it
is thought that children with ASD face unique and considerable challenges as
they transition from childhood into adolescence, as difficulties with social
interactions and an awareness that they are different from others may lead
to problems with anxiety, depression, or hostility. Also, for teens with ASD,
the new environments and quickly changing routines that come with high
school as well as hormonal and physical changes may prove to be
overwhelming and lead to anxiety. Therefore, it is essential to understand
that anxiety in children and teens with ASD is not only unique but a
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constantly shifting and changing dynamic. Understanding this concept will
allow for informed development of adequate treatment options.
It is also essential to consider the degree to which anxiety in children who
suffer from ASD affects relationships with parents and caregivers, as the
quality of these relationships may in turn have an effect on the child’s mood.
For example, if the parent or caregiver of an ASD child handles anxiety in a
positive and calm manner, the relationship may remain positive, lessening
the child’s overall anxiety as opposed to perpetuating it. In other words,
there may be a bi-directional influence.
Treatment for children with both ASD and anxiety is woefully inadequate.
Further research is needed in this area, in particular in such areas as
adapting traditional approaches such as cognitive behavioral therapy (CBT)
to ASD populations. Further, more thought should be put into the ways
individuals with ASD think, behave, and feel in order to provide them with
the very best and most effective treatment. Of the treatments that are
available, a multimodal approach is often considered the best approach,
taking into consideration the child’s learning style, as well as strengths and
limitations.
The multimodal approach would include such approaches as individual
therapy, occupational therapy (for children with sensory sensitivities or
sensory-seeking behavior), and school consultations (to add structure), just
to name a few approaches. Medications can sometimes help alleviate severe
anxiety as well as complement therapy, although medications can affect the
ASD brain differently than the normal brain. Parent education and parental
support groups sometimes also help by providing a stable foundation for the
anxious ASD child.
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One review maintains that issues with anxiety likely cause additional social
and developmental impairment above and beyond the impairment caused by
the core difficulties associated with ASD. The review further points out that
ASD conditions are lifelong conditions and that a large number of individuals
with ASD will need psychiatric care as they progress toward adulthood.
Therefore, the need for accurate diagnosis and treatment of psychiatric
conditions in those individuals with ASD is essential.
Parents and caregivers can assist in diagnosis by being observant of their
child’s behavior at home and school. For instance, the child may start to act
out more at home or school, or may display an increase in repetitive
behavior or restrict more. The child may not be able to report symptoms
accurately or could deny feeling anxious, despite showing symptoms that
clearly display a problem, so it is essential that practitioners instruct parents
to be observant to behaviors that are normal or abnormal for their child, as
a child with ASD may not have insight into his or her inner feelings or
anxious thoughts.
Intellectual Disorders
Intellectual disorders and ASD co-occur at very high rates. It should also be
noted that the greater the severity of one of these disorders, the more the
effect there appears to be on the other. Intellectual disorders (ID) present
cognitive, social, and adaptive skills deficits. Also, ID is frequently
accompanied by stereotyped and challenging behaviors, such as repetitive
behaviors. Comorbid psychopathologies of a number of types – for example,
depression, anxiety, or schizophrenia – may also present themselves. All of
these issues may be problematic for both the individual suffering from ASD
and the practitioner, and these issues can prove to be debilitating.
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One study speculates that a great deal of the recent advances in ASD
treatment has been with people who have ASD and are intellectually normal.
Further, they posit that as a consequent, many of those individuals with ID
may be overlooked. This is the case despite the fact that there is knowledge
that ID co-occurs with ASD, and this knowledge has existed for several
decades.
It should be noted that those with co-occurring ID and ASD have different
needs than those individuals who simply have ID or ASD alone. There are
therefore 3 distinct groups present: those with ID, those with ASD, and
those with co-occurring ID and ASD. Currently, it is difficult to make a clear
distinction between symptoms in these groups. More scale development is
required to make this distinction easier.
The combination of ASD and ID offers a number of challenges and deficits
across a range of skills and behaviors that are not only seen in ASD or ID.
For example, in individuals who had severe and profound ID with cooccurring ASD, one study found that these individuals had greater
behaviorally based feeding issues, particularly where food refusal and
selectivity were concerned, as compared to those individuals who had ID on
its own.
Challenging behaviors have also recently seen a great amount of increased
study. For example, researchers have discovered that as IQ decreases, the
severity of ASD and challenging behaviors increases, making ASD and ID
major risk factors. Murphy, et al., discovered that severe IQ and ASD were
correlated with higher rates of challenging behaviors, but these correlations
were not across the board. In particular, self-injury was correlated to
severity of autism. For those children with autism, functional assessment for
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challenging behaviors indicated that these behaviors were maintained
through escape or retention of tangible items.
Those children who have co-occurring ASD and ID do not tend to grow out of
challenging behavior; rather, the challenging behaviors tend to persist of the
life span with persons who have the highest rates of challenging behaviors
early in life still having the highest rates of challenging behaviors later in life.
Murphy, et al. observed this to be the case in a study of 141 people who
suffered severe ID and autistic disorder in a 12-year follow-up study.
Practitioners should consider patterns of challenging behavior to be a high
priority, as these problem behaviors occur at a very high rate. However, it is
important to note that there is still much to be learned. The available
research on this topic is small at the moment but is promising.
Attention Deficit Hyperactivity Disorder (ADHD)
Children who have ASD and ADHD have some of the same features, which
may complicate diagnosis.67 For example, both experience attention deficit
and over activity, behavior problems, and social difficulties. Often, the child
is simply diagnosed with ADHD and a diagnosis of ASD is missed.
To further complicate matters, according to the DSM as well as the ICD-10,
a diagnosis of either autism or Asperger syndrome automatically precludes a
diagnosis of ADHD. However, there is most certainly symptom overlap, as
seen in population-based twin studies as well as a recent epidemiologically
based study that reported a high rate of ADHD in autism and ASD. In the
DSM-5 the diagnosis of ASD will no longer preclude a diagnosis of ADHD.
The section below highlights findings in recent studies and medical opinions
related to risk factors and symptom overlap with ASD and ADHD.
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It is estimated that there is an approximate 30% prevalence of ADHD in
individuals with ASD. This is about 6 times higher than the prevalence of
ADHD in children and adolescents worldwide. Further, autistic-like symptoms
in those with ADHD are higher than in children who are healthy. These
findings preclude a co-occurrence of the disorders by chance.
There are risk factors for the development of the combination of ASD and
ADHD. One risk factor is genetics. Both ASD and ADHD are highly heritable
neurodevelopmental disorders. It is estimated that approximately 70 – 80%
of the phenotypic variance of each of these disorders can be explained by
genetic factors. Family studies indicated increased ASD-like symptoms in
both affected and non-affected siblings of ADHD patients, which signifies a
familiarity of the co-occurrence of ADHD and ASD symptoms. Further,
according to twin studies, which utilized questionnaire data on ASD and
ADHD symptoms, approximately 50 – 70% of the co-variance of ASD and
ADHD symptoms can be explained by shared genetic factors.
Non-genetic biologic factors also pose a risk. Some studies have started to
focus on the relevance of environmental risk factors for both ASD and ADHD.
Some environmental biologic risk factors increase the risk of both ASD as
well as ADHD, and this supports the thought that both of these disorders
may be alternate manifestations of the same risk factors. Recent studies
reported increased rates of ASD-like symptoms in 11-year-old, previously
pre-term children below 26 weeks of pregnancy. This study was replicated in
adults with ADHD. Additionally, several risk factors related to pregnancy
seemed to simultaneously increase the risk of ASD with a combined
diagnosis of ADHD or ADHD symptoms, such as the use of valproic acid,
maternal diabetes, pre-eclampsia, and viral or bacterial infections during
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pregnancy. The majority of these risk factors has only been examined
recently and is not yet well replicated.
Well-replicated factors that are specific to ADHD are pre-pregnancy obesity,
which increases the risk of inattention symptoms, and smoking during
pregnancy, which in particular is a risk factor for hyperactive and impulsive
behavior. This risk factor also increases the risk of a comorbid conduct
disorder with aggressive behavior in children who have ADHD. Smoking
during pregnancy has been excluded as a risk factor for ASD however. For
ASD, increase in paternal age has been shown to be a particular risk factor.
On the other side, younger maternal age seems to be a risk factor specific to
ADHD. The exact mechanism of how these risk factors influence the
developing brain is not yet determined.
Finally, non-genetic psychosocial factors pose a risk. For ASD, these factors
have not yet been adequately defined, whereas for ADHD, several of these
risk factors have been very strongly replicated in longitudinal studies. For
example, an association exists between family conflicts and divorce,
maternal depression, paternal antisocial personality disorder, and lowered
familial socio-economic status with increased rates of ADHD as well as
increased symptoms of inattentiveness and hyperactivity and impulsivity.
Therefore, these risk factors appear to be specific to ADHD and may also
increase ADHD symptomology in those children who suffer from ASD.
In regard to psychosocial risk, the relevance of psychosocial risk factors for
comorbid ASD and ADHD has been indicated by population-based study,
wherein a higher area of deprivation was a specific risk factor for cooccurring ADHD in children who have ASH. In children with ADHD who also
have increased ASD-like symptoms, family risk factors in one study were
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predictive of increased ASD-like symptoms, which indicates one of two
things: either there is some relevance of psychosocial risk factors to ASD
symptoms in general or there is the possibility that an increase in ASD
symptoms in ADHD may represent a particular ADHD subtype but not the
same disorder as ASD with no ADHD.
Recent studies have focused on parental immigration as a possible risk
factor for autism spectrum disorders (ASD), but findings have been
inconsistent. A Finish study focused specifically on Asperger’s syndrome to
determine the association between maternal and paternal immigration and
the diagnosis of Asperger’s syndrome in children. The study included
children born in 1987–2005 and diagnosed with Asperger’s syndrome by the
year 2007. The study showed that children whose parents are both
immigrants have a significantly lower likelihood of being diagnosed with
Asperger’s syndrome than those with two Finnish parents (having only one
immigrant parent and the diagnosis of Asperger’s syndrome revealed no
significant correlation). Interestingly, there was a significantly decreased
likelihood of the diagnosis of Asperger’s syndrome in children whose mother
or father was born in Sub-Saharan Africa. This study was indicated a
correlation between cultural heritage and the risk associated with different
ASD subtypes, specifically of the Asperger type.
The above discussion underscores the existence of overlapping factors at
play that lead to the comorbid diagnosis of ASD and other DSM-5 conditions.
In examining the DSM-5 rules that specifically allow for a joint diagnosis of
ASD and ADHD the following are highlighted:
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
Previous versions of the DSM forced practitioners to choose between a
diagnosis of ASD or ADHD, which may have prevented those with both
disorders from receiving the course of treatment they really needed.

The DSM-5 allows for a dual diagnosis of ASD and ADHD.

Clinicians will no longer have to qualify symptoms of one disorder or
the other; for example, diagnosing an individual with ASD and calling
his or her ADHD symptoms “ADHD-like” in order to offer treatment for
ADHD.

Under the DSM-5 guidelines, practitioners will be able to directly
analyze whether or not those with a primary diagnosis of ADHD and
some ASD symptoms may benefit from the strategies designed for
treating ASD, for example, social, speech, or occupational therapy.
Also, on the other side of things, those who are diagnosed with ASD
but show symptoms such as hyperactivity, inattentiveness, or
impulsivity could benefit from treatment protocols designed to treat
ADHD.

The DSM-5 guidelines will allow practitioners to treat children with
drugs such as Ritalin for conditions they can actually diagnose them
with. Until now, clinicians could not dual diagnose and prescriptions for
ADHD medications for those who have ASD were prescribed as offlabel medications being given for “ADHD-like” symptoms.
In addition to the above a benefit may be seen in clinical studies. Studying
those who have both ASD and ADHD may help researchers identify and
design treatments specific to this group.
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Management And Prognosis
Once the child has been diagnosed with ASD, the treatment program should
begin at once. As indicated above, over the past 15 years there is evidence
that has shown early intervention programs result in much improved
outcomes, particularly when started in very young children. The reason for
this is because a younger child’s brain is more able to change. However,
there is really no single best program for children with ASD to lessen
deficits. This section discusses evidence-based treatment of the child or
adult with ASD, such as combined individual therapies as well as approaches
to treat the whole family coping with a member diagnosed with ASD through
the integration of behavioral analysis and family systems theory.78,79,83-91
Treatment Goals
The key is to combine interventions, with the goal being to engage the
child’s unique combination of special interests in an effort to keep the child
involved with tasks. Good behaviors should also be positively reinforced.
Lessen Deficits
One key factor to lessening deficits is parental involvement, which is
instrumental to the success of treatment. Its important for parents to work
side by side with practitioners in an effort to learn how therapeutic practices
may be continued outside of a clinical setting. This is because parents are
the child’s primary teachers. Therefore, impressing on the parents how
important it is that they remain active and involved in their child’s care is
crucial. Some common interdisciplinary approaches that are utilized to
lessen deficits for individuals with ASD are listed and explained below.
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Speech Therapy
Speech therapy is conducted by a professionally trained speech therapist.
This therapy involves a great deal more than just teaching a child how to
speak. The therapist may work with the ASD individual on a number of skills,
including skills such as those listed below.

Nonverbal language skills: Nonverbal language involves
communication such as gestures, PECS (picture exchange
communication system), electronic talking devices, or utilizing other
alternative devices such as iPads or iPhones.

Speech pragmatics: Speech pragmatics involves training regarding the
suitable speech context.

Conversational skills: Speech therapists may instruct individuals with
ASD on how to have a back and forth conversation. This is called joint
attention.

Concept skills: A speech therapist may help an individual with ASD
understand abstract ideas, as they relate to communication.

Occupational Therapy: Occupational therapy helps those with ASD
work on the basic personal and social skills that are necessary to live
independently, as many individuals who suffer from ASD lack these
skills. Some of the things that an occupational therapist may work on
are further elaborated below.
 Provide interventional therapy to assist a child in responding
appropriately to information and stimuli that enters through the
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senses. Interventions may include brushing, playing in a ball pit, or
other activities that are aimed at assisting the child who suffers
from ASD to better manage how their body operates in space.
 Facilitates play activities that offer instruction as well as assist in
teaching a child in interaction and communication with other
people. For an occupational therapist who specializes in treating
those with ASD, this may mean designing specific structured play
therapies that are developed to building emotional, intellectual, and
physical skills; for example, floortime.
 Comes up with strategies to assist the child with transitioning from
one type of setting to another and from one person to another, as
well as from one phase of life to another. For the child who has
ASD, this may involve self-soothing strategies to manage
transitions from home to school; for adults with the condition it
could involve learning vocational skills.
 Develops adaptive strategies and techniques to maneuver around
disabilities. One example of this would be teaching the individual
typing should he or she find handwriting too difficult.
Behavioral Therapy
Amongst those behavioral therapies that are most effective for working with
children who suffer from ASD are the kinds that engage a child’s intrinsic
motivation to learn. This type of motivation utilizes the child’s inner interest
in a topic to encourage the individual to seek more and more knowledge in
that particular area. Behavioral therapists who utilize intrinsic motivators
may use a child’s interest in dinosaurs, for example, to create a story that
includes dinosaurs as the main topic of the story, making learning a reward
of the story.
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Two of the most frequently used behavioral play therapy interventions
utilized with children who have ASD are Floortime and Relationship
Development Integration (RDI). These are therapies that assist the child in
integrating emotional, intellectual, and social capabilities, as opposed to
simply focusing on skills or isolated behaviors. Both of these types of
therapies allow for the individual’s particular interests in order to encourage
learning and to engage the child in their own physical environment as well as
at their current level of cognitive and emotional development.
Another therapy that is frequently utilized, and is considered the gold
standard of behavioral therapy, is Applied Behavioral Analysis (ABA). This
behavioral therapy is a technique that is utilized to reduce inappropriate
behavior while increasing communication and increasing appropriate social
behaviors. ABA frequently utilizes confrontational techniques as well as
punishment (i.e., time outs from preferred objects or activities, or removal
of a token) in attempts to decrease behaviors that are unwanted. Many
psychologists and therapists who work with those who have ASD utilize ABA,
making this the most likely therapy to be utilized in most schools and clinical
settings.
Social Skills Training
Social skills therapists are psychologists, social workers, occupational
therapists, or speech and language therapists whose specialty is working
with those who have ASD. Drama therapists may also teach social skills by
working with those with ASD through scripted scenarios or through
improving or critiquing practiced interactions.
In school settings, social skills therapy can consist of group activities with
those with ASD and those who are not affected. These activities are
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generally games and conversation. These activities are generally overseen
by social workers or school psychologists, and can be held in the classroom,
playground, or lunchroom. Social skills groups held at school generally focus
on game playing, conversation, or sharing.
Groups that are held outside of school may have a similar style, but are
often paid for privately. Children may be grouped by similar age and ability,
and they make use of a particular social skill curriculum that is developed by
trained practitioners in social skills therapy. Social skills therapy that is
effective provides those with ASD the opportunity to share, play, converse,
and work with their non-affected peers.
Dietary Interventions
Autism spectrum disorder is sometimes caused by a genetic predisposition
that is combined with an environmental trigger. It is thought that this trigger
may be a sensitivity to a particular food that the individual with ASD
consumes on a regular basis, such as gluten, casein, corn, nightshade
vegetables such as tomatoes or potatoes, soy, or food dyes or preservatives.
The individual must be given an IgG food sensitivity test to determine food
sensitivities. This is a blood test that is given by a food allergist. The
recommended treatment for food sensitivities is to cease consumption of the
food that the individual is reacting to, commonly termed a food exclusion
diet. Many parents indicate that their child with ASD became less moody and
better behaved as well as less sensitive to light, sound and touch upon
adoption of the food exclusion diet.
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Reduce Family Stress
For many families, the stress of ASD – whether the diagnosis comes earlier
or later – starts immediately. There is no aspect of family functioning that is
not affected, from having to cope with the affected child’s temper tantrums
to dealing with the financial burden ASD brings or the social isolation that
frequently results. Research conducted by the Interactive Autism Network
(IAN) examined the many aspects of stress that families experience as well
as the responses to stress and the feelings that result.
Families answered questionnaires that gauged stress on several measures.
Fathers reported slightly lower overall stress levels than did mothers. The
first aspect assessed was child behaviors. Parents were asked in the Parental
Depression History Questionnaire to determine to what extent their child’s
challenging behaviors had a detrimental impact on their lives. Seventy-two
percent of participants indicated that challenging behaviors had a moderate
or great detrimental impact on their lives.
Two of the most frequently mentioned contributors of stress that were
associated with challenging behaviors were meltdowns and aggression. Both
of these behaviors required the parent to be hyper-vigilant and made
interaction with the world at large difficult. One of the greatest
consequences of challenging behaviors was social isolation for the whole
family. Additionally, parental self-esteem suffered as a result of the child’s
challenging behaviors.
Another aspect assessed was sleep disruption. Parents of children with ASD
indicate that they do not sleep as long and often have sleep that is poorer in
quality when compared to parents of other children, including those who are
parents of children with other types of disabilities. One study that was
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conducted in Philadelphia stated that the accumulated poor sleep quality and
shorter sleep duration contributes to the stress of raising a child who suffers
from ASD. Children with ASD do themselves have unusual sleep patterns,
including a refusal to sleep, awakening in the middle of the night, and
prolonged rituals at bedtime. Forty-eight percent of parents indicated that
they experienced exhaustion as a result of these sorts of issues, and that
these issues had a moderate or great deal of impact on their stress level.
One other aspect that was assessed involved issues with treatment. A great
number of children with ASD need therapy for issues that are associated not
only with ASD but also with other co-occurring conditions, such as ADHD,
depression, or anxiety. It may cause extreme stress on the parent or
caregiver to have to obtain and manage multiple treatments, which may
include physical, speech and language therapy, occupational therapy, social
skills therapy, medication, and ABA, just to name a few. Additionally, all of
these therapies can put a financial burden on the family in addition to
placing a logistical burden on the person coordinating the therapy.
Further, many parents and caregivers feel that they are largely unsupported
in seeking and obtaining adequate treatment for their child, and that quality
treatment options are not always readily available. This adds to the stress of
obtaining treatment.
In the aforementioned study, nearly 70% of participants indicated that
managing multiple therapies, including attempting to obtain treatment –
either on their own or through insurance – created a moderate or great
negative impact. Treatments may also prove to be disappointing, and it can
prove stressful when the family has invested their time, energy, and money
in a treatment option that has not been fruitful. Forty-six percent of
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participants indicated that disappointments in treatment outcomes have had
a moderate to great negative impact on their lives. Another aspect that was
assessed was child setbacks. Parents and caregivers can find child setbacks
very disheartening, particularly because they help their children to work so
hard to make progress.
The IAN research determined two categories into which setbacks fell:
1) classic regression, in which the child acquired a skill and then lost that
skill; and, 2) more general setbacks wherein new negative behavior
emerged. More than 70% of respondents indicated that there was a
moderate or great deal of negative impact when the child experienced a
major problem or reversal in progress at school or in some other area of life.
In other words, setbacks were highly stressful. Some parents even reported
feeling “traumatized” by the setback experience.
One other aspect that was assessed was parental worry about the future.
Parents worry about a number of different factors pertaining to their ASD
child’s future. For example, when the child is young, the parent worries
about whether or not the child will be bullied in the future. As the child
grows up, the parent starts to worry about such things as independent living
and employment prospects. Parents also worry about how other family
members will fare. Eighty-nine percent of study respondents indicate that
stress over worrying about the future has a moderate or great negative
impact on their lives, with some respondents indicating that this is an issue
they think about every single day. Despite this stress, many parents and
caregivers indicate that they have feelings of hope for their children.
Another aspect that was assessed was the impact on career and continuing
education. Participants were asked, What impact, if any, has raising a child
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with an ASD had on your own career or continuing education? Mothers and
fathers answered this question differently. Fathers felt more often than
mothers did that there had been no impact on their education or career, with
44% versus 28%. While many fathers reported that there was a negative
impact (46%), more mothers reported that there was a negative impact
(59%). Researchers believe that the reason for this may be because women
are more likely to stay home with children than are men.
Studies show that gender roles are more likely to become more traditional
after men and women make the transition to parenthood. Mothers take on
the bulk share of the domestic duties, even if they work outside the home.
Additionally, there is still a disparity in pay between what men earn and
what women earn. Therefore, women end up more often than men being
titled the homemaker. Also, many women plan on returning to work after
having the child, but may not be able to because the child has extensive
needs. Those women who were planning to return to work may have
discovered that having a child with ASD meant missing work or performing
below the standards they had set for themselves, resulting in a negative
impact on their careers.
Many parents reported that challenging child behaviors were one of the
major problems standing in the way to fully achieving at work – these led to
phone calls from schools or care centers that interrupted the work day and
contributed to stress at the job. Additionally, childcare was often an issue.
Many parents had issues finding or maintaining consistent childcare options
for their child. These issues often interfered with work, leading to the parent
having difficulty or inability in holding down a job. In one study that
compared families of children with ASD to families of children who were not
affected, parents of children with ASD were nearly 7 times more likely to
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leave a job as a result of issues with child care than were parents of children
who were not affected.
In addition, in another study conducted by the University of Rochester,
researchers indicated that 39% of parents of those with ASD stated that
they had quit a job, changed a job, or not accepted a job as a result of
childcare issues that were related to having a child who suffered from ASD –
this is more than 4 times the 9% that is reported by families who are raising
a child who is not affected. However, not all parents indicate that raising a
child with ASD has had a negative impact. Nine percent of fathers and 13%
of mothers indicate that raising a child with ASD has had a positive impact
on their education or career. This did vary somewhat dependent on the
parent’s level of education. A number of these individuals had simply found
new careers, many of them in areas such as autism advocacy, ABA, social
work, special education, or a related field.
One other question in the IAN research asked parents about the impact, if
any, that raising a child with an ASD had on their financial situation; nearly
80% of participants indicated that the impact was a negative one. One
reason for the negative impact was that many parents were required to cut
back on or change employment. Additionally, the cost of evaluation,
treatment, and therapies adds up quickly and can create financial hardship.
Expenses can be of all kinds, and can include various types of therapies.
Many parents reported feeling desperate, with adequate treatment options
always feeling just out of reach. A negative impact was reported by parents
of children with every type of ASD, with 75% of those parents of children
suffering from Asperger syndrome, 78% of those parents of children
suffering from PDD-NOS, and 80% of those parents of children suffering
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from autistic disorder reporting negative impact. For many parents,
immediate needs are pressing, and adding to the stress and negative impact
is the constant worry of how to pay for future needs.
Another area assessed was how friendships and social networks are
impacted, with nearly 60% of participants indicating that having a child with
ASD had a negative impact on friendships and social networks. Many parents
mentioned that getting out into the social world at large at all could be
difficult, in particular if their child suffered from temper tantrums or from
meltdowns, as these tended to draw negative reactions from other people,
particularly strangers. This is particularly true because children with ASD
often appear to be physically fine, unlike many other children with mental or
physical disabilities, making it appear as though the child is simply acting
out. This means that others may be less understanding about what the
parent must deal with when the child acts out, and that the child’s
challenges may be attributed to lax parenting as opposed to an actual
disability.
Further to the above, parents indicated that it is not only strangers that
make socializing difficult; parents conveyed that they have sometimes been
asked to leave organizations such as playgroups or churches as a result of
their child’s challenges. Therefore, it is no surprise that feelings such as
loneliness or isolation are common amongst those parents who have children
who suffer from ASD. These parents tend to begin to avoid social situations.
In fact, a study indicated that families with children ages 3 – 5 who have
ASD were 70% less likely to attend church services as compared with
children who have ADHD or were not affected. Another study that focused
on quality of life with families who have children with disabilities indicated
that those parents who have children with ASD had more difficulty with
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social relationships than did parents of children who had cerebral palsy or
mental retardation or parents of children who were not affected. Further, in
a Canadian study where parents were interviewed regarding their experience
raising a child with ASD, many described that they were made to live in a
world of their own, or a world that was isolated.
Some of the parents interviewed for the IAN research indicated that they
themselves exhibited ASD-like traits, for example, social anxiety. This made
the social situation even more difficult for these parents, as they started the
situation feeling socially awkward and then found the situation compounded
by their child’s challenges. Parents also found that friendships, which they
had enjoyed previous to having a child with ASD, were strained upon having
to care for their child’s challenges. Basically, the majority of participants in
the IAN study indicated that having a child with ASD is a situation that
reveals who one’s true friends are, and while they often found new
friendships, often with those experiencing the same hardships, they also lost
friendships they had previously valued.
Relationships with extended family also suffered. Forty-three percent of
fathers and 50% of mothers responding to the IAN research indicated that
raising a child with ASD had a negative impact on their relationships with
their extended family. For many of the families, the impact was mixed, with
many relatives in denial or dismissive of the ASD child’s diagnosis. Other
relatives were helpful or supportive. Still, an ASD diagnosis may bring
barriers to the typical family interaction, as a child with ASD may have
unusual needs that a non-affected child may not have, such as a particular
need for quiet or routine. This can make events such as birthdays or
weddings particularly trying or isolating for family members who must care
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for the child who has ASD, not to mention exhausting, as some participants
indicated.
Some study participants indicated that they avoided family functions to
avoid the accompanying stress. Others indicated that they avoided events to
avoid the accompanying critical remarks made by other family members who
did not believe the child had ASD. However, stress with extended family was
not without its positive aspects. Participants indicated that stress helped
them focus on who the real supporters in their journey were and avoid those
who would be critical and negative to progress.
The relationship between the parent-caregiver was also researched. Parents
who are raising a child with ASD face challenges that are in addition to
balancing work and family demands, paying bills, and doing chores. These
families must also cope with additional tasks to manage their child, for
example, they must investigate treatments, find providers, wrangle with
insurance providers, shuttle their child to appointments, and prepare for
Individualized Education Plan (IEP) meetings. Additionally, there is also an
emotional toll that is exacted on the couple once they learn that their child
has ASD.
How the couple adapts and copes has implications for the ongoing health of
their relationship. Participants in the IAN research indicated that 60% of
mothers and 54% of fathers stated that raising a child with ASD had a
somewhat or very negative impact on their relationship with each other.
However, despite this research finding, couples raising a child who is
suffering from ASD are not all that different from those couples who are
raising an unaffected child when it comes to respect for partner,
commitment, or support. There also is no support for the previously reported
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80% divorce rate of 80% for those families who have a child suffering from
ASD. One study that examined the divorce rates for families with children
who suffered from a number of disabilities indicated an average increased
rate of 5.97% over the rate of couples for non-affected children.
Researchers have reported a number of different areas of marriage difficulty
for parents with a child with ASD. One study of couples that were raising
children with ASD indicated that these couples experienced lower
relationship satisfaction and less social support than did parents of children
who were not affected. Another study that examined families of children with
developmental disabilities, mental health problems, or no issues over a
number of years to determine adaptation and coping mechanisms found that
parents with developmental challenges themselves had lower instances of
employment as well as social participation. However, these parents were the
same as the parents without developmental challenges when it came to such
factors as physical health, psychological health, and marital status. Those
parents who had a child with a mental health issue fared a bit worse. They
were also the same as the normal parents when it came to marital status;
however, they experienced a greater instance of depression and physical
issues.
Such a research study is particularly important to pay note to, because
many children with ASD also have mental health issues. One issue that
couples frequently mentioned was a lack of time together or being too
exhausted to make time together. Additionally, marital conflicts often arose
from such issues as division of labor, or if one of the two parents remained
in denial of the child’s diagnosis of ASD. It should be noted though, that a
conflict over division of labor in the household might occur even amongst
those couples that have a non-affected child; the issue only becomes more
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difficult to navigate when a child with a disability is involved. Gender
differences may contribute in how division of labor occurs, as many men see
care of the child as the mother’s purview. Some participants in the IAN
research were deeply involved in meeting their child’s needs; however,
many others were not, and the most common strategy employed by fathers
in dealing with their child’s ASD needs – and a source of stress on the couple
– was avoidance.
Conflict and stress need not result in tragedy, however; families, as it turns
out, can be extremely resilient. Families may discover many positive aspects
to having a child with ASD, such as finding pleasure in caring for the child,
finding a sense of accomplishment in progress the child makes, coming to a
sense that the marriage and family has been strengthened by what the
family unit has gone through as a whole as a result of the diagnosis, and
increased spirituality. Families may also gain a new perspective on what is
truly important about life.
One last important grouping of note is siblings of those with ASD. Raising a
child who suffers from ASD places a high demand on the time and resources
of parents not only as individuals but also on the family as a whole.
Oftentimes, other members of the family do not get their needs attended to
in the same way that the ASD individual gets his or her needs attended to.
Many parents feel that even as they are giving their all in caring for the child
who suffers from ASD, they struggle in caring for the rest of their family as
well as caring for themselves – the feeling is compared to putting the rest of
life on hold while they care for the autistic individual. What results is a
constant tension between the needs of the child with ASD and the needs of
the other family members. While research indicates that the majority of
siblings of those who have ASD cope well with having an autistic brother or
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sister, these individuals still encounter specific challenges as they learn how
they must deal with having a sibling with autism spectrum disorder.
Some of the top sources of stress for siblings are covered below:
1. Embarrassments around their peers as well as jealousy regarding the
amount of time parents spend with the child with ASD.
2. Feelings of frustration over not being able to get a response or engage
with the child with ASD.
3. Being the target of aggression.
4. An attempt to make up for the deficits the child with ASD suffers.
5. Feelings of concern regarding parental stress or grief.
6. Feelings of concern regarding their own role for caregiving in the
future.
There are things that parents – and practitioners as well – can do to help
siblings understand ASD, as well as to help improve sibling interaction and
to ensure that all children in the family feel loved and attended to. First, ASD
must be explained to children early and often, and the information should be
given to them in ways that is appropriate to their developmental age and
level of understanding. For example, preschool age children may need an
explanation that will help them comprehend how the behavior concerns
them: saying that the child with ASD doesn’t talk is an appropriate way to
explain this.
An older child may want an explanation that is more interpersonal in nature,
for example, an explanation of how to explain autism to his or her friends.
The role is to listen carefully and pay attention to the unique needs and
concerns of the child at every age, adjusting explanations to fit those needs
and concerns. Additionally, explanations need to be offered again and again.
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Offering constant opportunities for education allow the sibling repeated
chances to have open conversations where questions and concerns may be
raised. A parent, caregiver, or practitioner may conduct these conversations.
Secondly, parents and caregivers should work to help their children form a
bond with each other. This is difficult because of the nature of ASD. Many
siblings become discouraged at forming bonds with their ASD siblings;
however, they can often be taught simple skills that will help them engage
with their sibling who is suffering from ASD. Some of these skills include
ensuring that the sibling has the ASD child’s attention, offering simple
instructions, and praising good play.
Thirdly, to help alleviate sibling stress, it is important to teach parents that
they must make family time special for all family members. Parents
frequently work very hard to make certain that the individual with ASD is
fully integrated into family life, but they work less hard to make certain that
this is the case for the other children. One way families can make certain the
non-affected children feel special is by setting aside time for non-affected
children that is separate from time spent together as a family unit.
Fourth, it is important for parents to recognize that being the sibling of a
child with ASD does not end when the sibling reaches adulthood. The sibling
of a child with ASD is a lifelong commitment, just as being the parent of a
child with ASD is. Therefore, practitioners should prepare parents for how to
address sibling concerns as siblings enter early adulthood. For example,
young adults may be concerned about the genetics of ASD and whether or
not there is a chance that they themselves may have a child with ASD. They
may also be concerned about whether or not they will end up taking care of
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their ASD sibling as he or she ages, particularly when questions of parental
aging are also involved.
All of these questions can create stress, but this stress can be adequately
managed by having open – and consistent – conversations, as siblings grow
older. While it is true that growing up the sibling of an individual with ASD
can by challenging, most siblings handle the challenge very well.
Applied Behavior Analysis
Applied Behavior Analysis (ABA) is the design, implementation, and
evaluation of modification of the individual’s environment in order to produce
a socially significant improvement in the individual’s behavior. ABA includes
the usage of direct observation and measurements as well as the functional
analysis of the relationship between environment and behavior. ABA utilizes
changes in environmental events to produce both practical and significant
changes in the individual’s behavior. These environmental events are
generally identified through a number of specialized assessment methods.
Applied Behavior Analysis is based on the idea that the individual’s behavior
is determined by both the past and current environmental events that are in
play with certain organic variables, such as genetics, as well as ongoing
physiological changes. The focus of ABA is on treating behavioral difficulties
by changing the environment as opposed to focusing on variables that are
beyond the direct control of the practitioner. ABA is considered the standard
of care for treatment of an autistic disorder.
Contributions made by ABA to people who have ASD have been studied;
ASD has previously been considered to be a disorder that has been
associated with a poor prognosis, with only 50% of those individuals affected
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expected to develop spoken language skills. Behavioral intervention has
been shown to be the most effective method at addressing the needs of
those who have ASD. One early behavioral intervention study that was
conducted by Lovaas in 1987 discovered that 40 hours per week of early
intensive behavioral intervention (EIBI) that involved a curriculum that
emphasized language skills as well as intensively applied behavioral
procedures, resulted in nearly 50% of participants achieving IQs in excess of
100. Participants also greatly improved their social development and were
able to successfully mainstream. This study is considered monumental in this
area of research, as it was the first in history to produce such incredibly
encouraging outcomes for those with autism. The gains produced in this
study were replicated and maintained through several follow-up studies.
To determine if the gains that were shown in the Lovaas study could be
maintained over an extended time period, McEachin, Smith, and Lovaas
conducted a longer-term study of the same children by studying intelligence
and adaptive function 4.5 years later. Results indicated that the outcome of
EIBI was better in relation to gains made by a control group that received
minimal treatment. Sallows and Graupner provided further validation of the
results through a four-year long-term study that demonstrated a replication
of the EIBI success when parent directed and intensive treatment was
utilized. The Lovaas study was met with methodological criticism, however,
one criticism of which was that it lacked randomization. Others have made
efforts to replicate the findings of this study while addressing the problems
of randomization. Smith, Groen, and Wynn published the first randomized
study that evaluated less intensive treatment at 20 hours per week; results
indicated that even when it was delivered with less intensity, EIBI showed
improvement over parent training on its own.
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Although a dose effect, indicated by Smith, et al., had been raised there was
a question that remained about a need for adherence to the ABA principles,
as to whether intensity alone was a significant variable. Studies that followed
worked to validate the necessity to adhere to ABA versus more eclectic
approaches that may be more common in the early intervention programs.
One study validated Lovaas’ style of EIBI in those children of autism who
received Lovaas style of treatment for a period of one year. The participants
in the treatment possessed superior skills as compared with a control group
who had received more eclectic procedures that were considered generally
well regarded. The group that received the Lovaas treatment showed gains
that were evident in areas of language, intelligence, and adaptive behavior.
These findings were later supported in a study by Howard, et al., which
indicated that classic eclectic approaches did not produce the same type of
favorable results as had the Lovaas method.
Even though the Lovaas method proved to be remarkably successful, there
has always been a focus on improving the quality of treatment methods.
Additionally, ABA practitioners criticized the Lovaas method of EIBI because
it did not utilize B.F. Skinner’s (a psychologist that studied human behavior
and language) analysis of verbal behavior. There are two examples of efforts
that did utilize Skinner’s analysis, in Bondy and Frost’s and Partington and
Sundberg’s research. These efforts resulted in the development of
technology as well as teaching procedures that include the Picture Exchange
Communication System and a treatment pack referred to as the Applied
Verbal Behavior pack. It does still remain unclear whether or not approaches
that are based on Skinner’s analysis of verbal behavior are superior to the
Lovaas method. However, regardless of whether this is the case or not, ABA
treatments of all types assist individuals with ASD in living more fulfilling
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lives. ABA is a wonderful treatment for people with autism. It also is true
that people with ASD have been good for ABA, as elaborated on below.
How have individuals with ASD contributed to ABA and to Society? Those
who have received ABA as well as parents and caregivers who are advocates
have made great strides in efforts to provide those who need this valuable
therapy with behavioral intervention in both home and school environments.
Efforts to bring ABA into these environments have had many favorable
impacts on education of those with ASD as well as on the image of ABA.
Improving the image of behaviorism is important, as there have been
common misconceptions and contentions that misrepresent the significance
and achievements of behaviorism. B. F. Skinner himself identified 20 such
contentions, which ranged from the idea that behaviorism ignores the idea of
conscious and feelings or states of mind, the thought the behaviorism
formulates behavior as a set of responses to stimuli that are limited to the
prediction and control of behavior that basically present the person as a
machine or robot, the idea that behaviorism works with animals but not
people, the notion that behaviorism is dehumanizing and confined to a
laboratory setting instead of being applicable to real life, and the thought
that behaviorism is more concerned with general principles instead of being
focused on the uniqueness of each individual. All of these ideas are
damaging, but as more individuals have become consumers of ABA, ABA’s
image as a discipline has been improved, and its practitioners have come to
be seen as effective and humane teachers. This is one contribution that the
ASD world has made to ABA.
Another way in which those with ASD have helped the world of ABA is by
permitting practitioners to understand whether or not Skinner’s analysis of
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verbal behavior is valid and practical. Dixon, et al., indicated that Skinner’s
analysis offered the first overall accounting of language acquisition from a
naturalistic perspective and also made a conceptual and empirical
contribution to ABA that is enduring.
Children with ASD have also shown the importance of early intervention
methods such as the Lovaas method. Methods such as EIBI may accelerate
the learning process in all children, including those without ASD. For
example, if one considers the history of those children who have been
labeled as geniuses, such as Mozart, one may be struck by the fact that
these individuals are often the beneficiaries of large amounts of early
training. Since methods such as EIBI benefit those with ASD so greatly, they
may also benefit those in other populations, such as those with Down
syndrome, fetal alcohol syndrome, and even those who are not disabled.
Applied Behavior Analysis has a history of focusing on addressing serious
problems that affect those who have severe disabilities and have majorly
benefited those who have ASD. While ABA has not been integrated into
mainstream science and remains in a niche in the special education system,
there is no denying the benefits it has produced for those who suffer from an
autism spectrum disorder.
Structured Teaching
Those who suffer from ASD thrive best in very well organized and highly
structured environments. Structured environments are considered those that
promote a clear understanding of schedules, activities, and expectations not
just for the individual who suffers from ASD but also for their caregivers and
teachers. Specifically, the structured environment allows the individual with
ASD to:
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
Understand and predict what is going on in the environment
around them

Predict what is expected of them

Acquire new skills

Generalize the skills they acquire from one setting to another
Structured teaching is generally a visually-based approach designed to
create a structured environment that will in turn support individuals with
ASD in a number of educational, community, and home or living
environments. The goal of structured teaching is to create this environment
that promotes independence – and ultimately a decreased need for caregiver
support – through incorporating an increased understanding of the
characteristics of ASD and the strengths and interests of the individual.
External organization and visual support serves as the basis for intervention
in the structured environment.
Structured teaching has certain specific components, and these are outlined
below.

Physical organization and visual boundaries:
This is the usage of visual supports such as furniture, labels, icons,
and so on to make the learning environment more comprehensible and
manageable to the individual. An environment that is physically
organized clearly indicates the types of activities that occur in each
area; this helps promote increased understanding and attention to
each task. Visual boundaries help students understand the rules of the
space, the specific types of activities they should complete in each
space, as well as the behavioral expectations of each space.
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
Schedules:
Visual schedules offer a visual representation of planned activities in
the order in which they will occur utilizing symbols, pictures, words,
photos, icons, or even actual objects.

Routines:
Routines, when combined with visual schedules, help by assisting
individuals with understanding their environment and becoming more
flexible. Predictable routines serve as another form of structure,
meaning that students with ASD experience decreased anxiety in
routine situations. When their anxiety is lowered, students frequently
demonstrate increased attention to tasks. In addition, once an
individual with ASD learns the routine, he or she will increase in
independence.
The primary goal of routines is to offer a framework for activities that
will occur within the individual’s schedule. Once the framework is
established, the specific context details may continually change. For
instance, once an individual understands the basic routine of their
language arts lessons, the teacher may change the specific content.
Since the individual with ASD may have difficulty paying attention, it is
often helpful to provide each individual with his or her own set of
directions. An individual schedule placed into the individual’s agenda
will increase the individual’s chances of success in following a schedule
or directions. When routine is consistent and expectations are made
clear, independence is increased and level of learning is often higher.
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
Work Systems:
Work systems are sequences that are visually structured and provide
opportunities to practice skills, activities, or concepts that have been
previously taught. The key here is that these are visually structured to
increase independence.

Task Organization:
Visually structured tasks are highly incorporated and organized visual
instructions. These structured activities clearly indicate what activity
the individual should complete, the steps for completing the task, as
well as the important and essential features of the task. Tasks are
selected based on assessment information utilizing emerging skills.
Tasks are developed so that the person utilizing the system knows
what to do simply by looking at the materials and the design. There
may be a picture or written instructions. Also, limiting the work area
by utilizing a box tray or folder assists the individual with ASD in
knowing what to focus on in a particular task. It is important to make
certain that all materials are secure; this lessens frustration. To know
what is important, the task may have highlighting in certain important
parts, a limited number of items, be color coded, or labeled.
There are several ways to create highly organized learning environments;
these should all be adapted to meet the needs of the individual suffering
from ASD. These include:

Paying attention to individual consideration:
 Consider the interests, strengths and needs of the individuals in the
particular setting at hand
 Consider safety issues
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•
Designing the physical space and developing the visual boundaries:
 Link the physical set up to the needs of the individuals in that
particular setting.
•
Developing the schedules
•
Creating the work system
•
Organizing the tasks
 Choose the tasks based on an assessment of the individual
 Design the tasks to indicate direction
•
Implementing and monitoring progress
 Make sure to teach the particular steps of the system. Utilize
strategies such as prompting, modeling, and reinforcement in the
teaching process.
 Make sure to collect data on each individual’s ability to remain
actively engaged in the environment.
Structured teaching may be used in any setting or may be utilized to support
any individual with ASD. Further, any caregiver, educator, or practitioner,
may use the principles of structured teaching to support an individual
suffering from ASD. These strategies may be used at home, in educational
environments, and in community living settings, as well as to promote
success at work.
Speech and Language Therapy
Most ASD behavior intensive therapy programs include a speech-language
component. This is because many individuals with ASD experience language
difficulties. With a number of techniques, speech-language therapy
addresses a number of challenges faced by those individuals who suffer
ASD. For example, some individuals who suffer ASD do not speak, while
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others enjoy speaking but have problems utilizing conversational speech or
even understanding language or nonverbal cues when others are speaking.
Speech-language therapy is made to coordinate with the mechanics of
speech as well as with the meaning and social usage of language. Speechlanguage therapy programs start with an individual evaluation by a speechlanguage therapist to assess the individual’s verbal aptitude and to
determine where the individual may be challenged. From this evaluation, the
therapist then sets goals based on the individual’s challenge areas. In every
case, the goal is to assist the person in communication in more effective
ways.
Even if a person is nonverbal, they can benefit from the skills of a speechlanguage therapist. These individuals may benefit from augmentative and
alternative communicative (AAC) devices or methods. The Picture Exchange
and Communication System (PECS) is one of the most commonly utilized
methods with children or adults who have little or no verbal language skills.
This method allows children or adults with ASD to develop a vocabulary
through which they may articulate desires, observations, or feelings. This
system may be taught and utilized at home, in classrooms, or in a number
of other settings.
Augmentative and Alternative Communication
At the beginning of the PECS program, the instructor teaches the individual
to exchange a photo for the object – for example, the adult would exchange
the picture of the apple for the apple itself. With further instruction, the
individual then learns to distinguish pictures as well as symbols and utilizes
them to form sentences. Even though PECS is a visually based system, the
program reinforces and emphasizes verbal communications. Caregivers may
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purchase standard PECS systems as part of a manual or put together their
own by gathering photos from everyday sources, for example, magazines,
newspapers, and books. Other augmentative and alternative communicative
devices include devices that may be specially programmed, such as iPads
and iPhones. A speech-language therapist may provide therapy in a one on
one setting, in small groups or in a classroom setting.
Social Skills Therapy
Social skills are considered socially acceptable learned behaviors that enable
a person to interact with others in ways that elicit positive responses that
assist in avoiding negative responses. One of the biggest areas that those
who suffer from ASD experience deficits is the area of social skills.
There are five basic tenets of social skills programming in individuals with
ASD:

Individuals who suffer ASD have a desire to establish meaningful social
relationships.

If those with ASD are to be successful socially, then they must be
given the skills to be successful.

Successful social behaviors are not always “appropriate” social
behaviors.

Social success is dependent upon the individual’s ability to adapt to his
or her environment.

Social interaction skills are not the equivalent of academic skills.
There are 3 integrated components that form up the essence of social
interaction. These are: thinking, feeling, and doing. In order to approach
social skills therapy in those with ASD, a five-stage approach must be taken.
This approach includes the following factors:
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 Identifying and assessing areas of need
 Discerning between skill acquisition deficits and performance deficits
 Selecting appropriate intervention strategies
 Implementing intervention strategies
 Evaluating the selected program and modifying the program as
needed
The social skills assessment is by far the most essential piece of this
approach. The purpose of the assessment is to discover: 1) a child’s current
level of performance, current strengths as well as limitations, 2) identify
skills to teach, and 3) answer the important question - What is precluding
the child from establishing and maintaining social relationships?
The most common social skills difficulties that social skills therapy addresses
are difficulties in social initiation, difficulties with reciprocity and terminating
interaction, difficulties with non-verbal communication, difficulties with social
cognition, difficulties with perspective and self-awareness, and difficulties
with social anxiety or social withdrawal.
Occupational Therapy
Occupational therapy addresses engagement in activities … of everyday life,
named, organized, and given value and meaning by individuals and a
culture. Occupational therapy services focus primarily on enhancing
participation in these activities, based on an individual’s own goals and
priorities for participation in these activities.
Occupational therapy focuses on a number of skills, including cognitive,
physical, and motor skills. The goal is to assist in helping the child or adult
gain independence that is age-appropriate and allow the individual to
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participate more fully in life. For an individual with ASD, occupational
therapy frequently focuses on skills for appropriate play or leisure, learning,
or caring for oneself. Therapy starts with a therapist certified in the area of
occupational therapy evaluating the individual’s developmental level as well
as their learning styles and social abilities. The individual’s environmental
needs are also assessed.
Based on the evaluation, the therapist selects strategies and goals designed
to enhance certain skills. For example, a goal may include dressing
independently, feeding or grooming oneself, or using the toilet on one’s own.
Occupational therapy typically involves half-hour or one-hour sessions, with
the frequency of sessions determined by each individual’s needs.
Additionally, the individual suffering ASD practices the skills with guidance at
home or in other settings, such as school.
Pharmacology In The Treatment Of ASD
Even though prescription medication is common for the treatment of ASD,
there is not much evidence that medications do much good. Surveys indicate
that as many as 50% of children with ASD take some psychiatric
medications – most often these are antidepressants, antipsychotics, or
stimulants. This section provides a general overview of the mainstay of
medication used by clinicians to treat the individual with a diagnosis of the
autism spectrum.92-100
In one recent survey of 2853 children in the Autism Treatment Network,
27% of respondents were using at least one psychotropic medication. Use of
medication ranged from 11% in children ages 3 – 5 years to 66% in those
12 – 17 years of age. Most of the use was related to comorbid psychiatric
diagnoses, which included diagnoses such as ADHD or ADHD-like symptoms,
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bipolar disorder, obsessive-compulsive disorder, anxiety, and depression.
Despite the fact that there are a wide number of medications utilized to treat
patients with ASD, there is little evidence that exists to show that medication
is effective.
Educational interventions are still considered the cornerstones of treatment.
These typically involve behavioural or rehabilitative components to address
the deficits that exist with ASD. The components may involve occupational
therapy, behaviour modification, or speech and language therapy. However,
medication may be considered in the treatment of ASD if non-pharmacologic
interventions have failed or if maladaptive behaviours are severe.
Medications are not intended to treat the core symptoms or ASD; they also
cannot cure ASD. Medications are considered adjuncts, and they may be
utilized to decrease the severity of symptoms as well as to help patients
participate in more active ways in educational interventions or to assist
patients in living outside of institutional settings.
Patients with ASD are more sensitive to the side effects of medications, so
practitioners must take care to observe that the benefits of utilizing
medications in ASD patients outweigh the risks of the development of
adverse reactions to such drugs. Medication often utilized to treat symptoms
related to ASD was frequently chosen based on their ability to treat the
same symptoms in other psychiatric disorders. For instance, Selective
Serotonin Reuptake Inhibitors (SSRIs) are utilized to treat stereotypical
behaviour based on the use of these medications in obsessive-compulsive
disorder. Many medications utilized in the treatment of ASD symptoms do
not carry any sort of FDA indication for the usage of treatment in ASD.
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Studies of medication usage in ASD populations are sparse and often have
small sample sizes. Trials are often also complicated by the concomitant
usage of other medications utilized to treat symptoms related to ASD.
Frequently, researchers have difficulty recruiting enough study participants.
The medications most commonly used to treat ASD are listed below.
Antipsychotics
These are the most studied type of medication when it comes to the use of
medication in the treatment of ASD. The primary usage is for the
aggression, irritability, and the self-injurious behaviours that are associated
with ASD. However, antipsychotics may also be used to treat stereotypical
behaviours and ADHD-like behaviours.
Haloperidol is one antipsychotic that has been utilized and studied for usage
in treating ASD. An average dosage of 1.12 mg/d has been shown in 2
clinical trials to decrease maladaptive behaviours. Doses exceeding this
dosage show no additional effectiveness. Usage of this antipsychotic was
associated with a high incidence of side effects. These side effects included
sedation, increases in irritability, and dystonia. At doses of 1.75 mg/d, 1/3 of
patients developed dyskinesia that primarily affected the face and mouth.
Over 90% of the antipsychotics prescribed to children are second-generation
atypicals (SGAs). Risperidone is the most well studied SGA in ASD and is
considered one of the most commonly prescribed of the antipsychotics in
children. Risperidone and aripiprazole are the only two SGAs that carry an
FDA indication for treating associated irritability in children with ASD.
Risperidone has been shown to reduce maladaptive behaviour in ASD. The
Research Units on Pediatric Psychopharmacology (RUPP) Autism Network
studies convey strong evidence for the efficacy of risperidone in treatment of
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ASD. In an 8-week double-blind, randomized, placebo-controlled study of
101 children who ranged in age from 5 – 17 years, a mean dosage of 1.8
mg/d of risperidone resulted in a 14.9 decrease in the ABC-irritability (ABCI) subscale. This was versus -3.6 points for the placebo group.
Risperidone does come with some side effects. These include fatigue,
drowsiness, and tremor. Aripiprazole was shown to reduce symptoms of
irritability in those with ASD in some small studies. The strongest evidence
for the efficacy of this treatment comes from two manufacturer-sponsored
trials that led to the drug’s approval by the FDA for treatment of symptoms
associated with ASD. Both trials were 8-week trials on children ages 6 – 17
years. Participants had to have both a diagnosis of ASD as well as irritabilitytype behaviours such as aggression, tantrums, or self-injurious behaviours.
The first trial consisted of a flexible dosage schedule that started at 2 mg/d
that increased weekly to a maximum dosage of 15 mg/d by 6 weeks. In 98
participants with a mean age of 9.3 years, there was a between group
change in the ABC-I scale of -7.9. Side effects to the medication were seen
in 91.5% of participants. The most common side effects of this medication
were fatigue, sedation, somnolence, drooling, vomiting, diarrhea, and
tremor. The second trial consisted of fixed-dosage aripiprazole, with dosage
being 5 mg, 10 mg, or 15 mg daily, given to 218 patients with a mean age
of 9.7 years. Decreased in ABC-I were statistically significant across all
doses as compared to placebo. In the group receiving the 5 mg dosage, the
total change was -4.0; in the group receiving the 10 mg dosage, the total
change was -4.8; and, in the group receiving the 15 mg dosage, the total
change was -6.0. Side effects were experienced by 85.2 – 89.8% of all of
the participants on the medication and resulted in 17 withdrawals from the
study.
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Evidence for the usage of other SGAs is fairly sparse. Olanzapine and
ziprasidone have each had 1 clinical trial that demonstrate that they may
reduce maladaptive behaviours in those who suffer from ASD; however, the
sample sizes in both trials were very small (<20). In other small trials,
quetiapine showed some mixed results. These medications remain unproven.
Selective Serotonin Reuptake Inhibitors (SSRIs)
Treatment with SSRIs is common. This is because the maladaptive and
repetitive behaviors frequently exhibited by those with ASD resemble those
with obsessive-compulsive disorder. Research evidence has shown mixed
results. One trial of citalopram in 149 children did not find any benefit.
In early trials, fluvoxamine was shown to improve repetitive behaviours and
language use in 8 out of 15 adults, but a trial that followed did not find
similar responses in children. Another trial of paroxetine in 15 patients was
initially shown to have positive benefits on aggressive and self-injurious
behaviours, but the effects waned after 4 weeks of treatment. One small
trial of escitalopram in 28 participants indicated improvement in the ABC-I
scale.
There are two medications that have shown promise. These medications are
sertraline and fluoxetine. Sertraline has been shown to improve aggression
and self-injurious behaviour. In one study, sertraline improved both of these
behaviours in 8 out of 9 patients. In another trial, 57% of ASD patients
displayed significant decreases in aggression and repetitive behaviours when
given a mean dosage of 122 mg/d of sertraline. However, those with
Asperger syndrome did not show any response to the medication.
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In a study of fluoxetine in 34 children ranging in age from 5 – 17 years,
fluoxetine given at mean dosages of 0.38 mg/kg/d decreased the
compulsion subscale of the Yale-Brown Obsessive Compulsive Scale by 1.55
points. This was as compared to 0.25 points for placebo. In another study of
37 adult patients with ASD, a mean dosage of 64.75 mg/d of fluoxetine led
to a decrease in the Yale-Brown Obsessive Compulsive Scale of 3.7 points.
Side effects for fluoxetine were generally mild, and included vivid dreams,
insomnia, dry mouth, and headache.
Stimulants and Atomexetine
Individuals who suffer from ASD often also have ADHD-like symptoms.
These symptoms may include symptoms such as hyperactivity,
distractibility, excitability, and difficulty concentrating. Psychostimulants are
often considered the first line to treat these types of symptoms. However,
unlike children who have ADHD, children who have ASD are not as
responsive to stimulants and may have an increased sensitivity to side
effects such as emotionality or agitation.
Methylphenidate is the preferred medication, mostly because it has been
used in most of the clinical research. Short acting formulas should be used
first so as to gauge tolerance. Although there are a number of trials that
demonstrate the efficacy of methylphenidate in treating the ADHD-like
symptoms in children who have ASD, the strongest evidence to this point
comes from RUPP trials. In a 4-week trial of 72 children ranging in age from
5 – 14 years who were treated with low dosages (0.125/mg/kg/d), medium
dosages (0.25/mg/kg/d) and high dosages (0.5/mg/kg/d) of
methylphenidate in 3 divided dosages. During the first phase, forty-nine
percent were found to respond to the medication. However, 18% stopped
the medication because they were unable to tolerate it.
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During the crossover phase, the ABC-I decreased from 30.9 – 33.2 to 17.2 –
20.1 (dependent upon the evaluator). In the second phase, which was
conducted as an open label, 8-week trial of 34 responders who were dosed
on what was determined to be their best response dosage, response was
maintained. Side effects were most commonly irritability, sadness, lethargy,
dullness, and social withdrawal. In a follow-up analysis of 33 participants
from this study, it was indicated that there was substantial improvement in
self-regulation, joint attention, and the ability to regulate one’s emotions.
Two small studies indicate that there are potentially minor benefits of
atomoxetine in those children with ASD and ADHD-like symptoms. The first
study was a crossover study that consisted of 16 participants ranging in age
from 5 – 15 years. Over 6 weeks the patients were given a mean
atomoxetine dosage of 44.2 + 21.9 mg/d; patients experienced a mean
decrease of 5 points on the ABC-I hyperactivity scale as compared to 0.1
point for placebo. In the second study, 97 participants ranging in age from 6
– 17 years were assigned randomly to either a fixed dose atomoxetine
regimen (1.2 mg/kg/d) or a placebo regimen. After 8 weeks, participants on
the atomoxetine experienced an 8.2-point decrease in the 5-point ADHD
Rating Scale (ADHD-RS) score as compared with 1.2 for placebo.
In both trials, atomoxetine was well tolerated. The most common side
effects were decreased appetite, nausea, fatigue, and early morning
awakening. The drug’s manufacturer sponsored both of these trials.
Although they do suggest that there is a possible benefit in this drug in the
treatment of ADHD-like symptoms in those individuals who suffer from ASD,
further research is needed before this medication may be considered a first
line therapy.
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Even though clonidine and guanfacine have been utilized to treat ADHD,
there is sparse data on their usage in ASD. Both risperidone and aripiprazole
have been shown to decrease ADHD-like symptoms in those children who
also have ASD. However, there is a risk of weight gain and movement
disorders with these medications. Therefore, these medications are not
recommended unless there is a high degree of impulsivity that threatens the
child’s life, for example, the child displays dangerous or impulsive running or
jumping. Another example would be a child who displays excessive
irritability or aggression.
Cholinesterase Inhibitors and Glutamatergic Antagonist
(Memantine)
Medication typically utilized to treat Alzheimer’s disease that may be added
to their treatment plan. There has been increased interest in utilizing both
cholinesterase inhibitors and the glutamatergic antagonist memantine to
improve executive level functional deficits such as decision-making, problem
solving, and social deficits in those patients with ASD. The interest in this
avenue of treatment stems from findings in autopsies that indicate a deficit
of cholinergic receptors as well as abnormal functioning of those receptors in
the prefrontal regions and cerebral cortex. There have only been small trials
of these types of agents and these agents are not yet proven.
One 10-week trial conducted with 34 participants with donepezil at 10 mg/d
indicated that participants did not show any difference on tests that were
made to measure cognitive functions such as verbal ability or problem
solving. In another open label, 12 week study conducted with 32 participants
ranging in age from 2 – 12 years, rivastigmine dosed at 0.8 mg twice a day
was shown to improve expressive speech and autistic behaviour, as
indicated by a 3 point drop in the Childhood Autism Rating Scale Score.
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Galantamine has been shown to bring about mild improvement in such
behaviour as hyperactivity, eye contact, and inappropriate speech, but these
results are limited.
Additional autopsy findings have shown a decreased neuronal size in the
greatly interconnected structures in the limbic system. This indicates
neuronal immaturity, which impacts the ability to form memories. An
“excitotoxicity” state may occur which might then lead to high levels of the
neurotransmitter glutamate, which in turn may lead to neuronal death.
Small studies of both amantadine, which is related structurally to
memantine, and D-cycloserine, which behaves as a partial agonist at the
NMDA receptor, indicated positive effects on those with ASD. These
indications have in turn led to an interest in memantine as a treatment for
autism.
In one 8-week open label study of 14 participants ranging in age from 3 – 12
years, memantine dosed at 0.4 mg/kg (up to 20 mg/d) culminated in a small
improvement on simple memory tests. Improvements were not seen on
other cognitive measurements. However, participants did show
improvements on all ABC subscales. In a second trial of 18 participants
ranging in age from 6 – 19 years, with a mean dosage of memantine of 10.1
mg/d and over a treatment period that averaged 19.3 weeks, participants
were “much improved” or “very much improved” as indicated on the Clinical
Global Impression. The results of studies that use galantamine, rivastigmine,
and memantine do show promise, but they must be confirmed before these
medications may be utilized in routine treatment.
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Behavioural Interventions
Behavioural interventions are still considered the best option in the
treatment of ASD. Many early intervention therapies utilized in treating
those with ASD are based on the principles of ABA, which utilized positive
reinforcement as well as other techniques to encourage a behavioural
change. Research suggests that high intensity intervention – considered to
be at least 30 hours per week for one to three years – may help improve
behaviour and thinking ability as well as broaden the individual’s language
skills, as compared to other, more broad treatment options.100-103
Future Therapies
Future therapies for treating ASD may take many paths. Researcher Jeffrey
Bradstreet is examining how neuronal stem cells may help treat ASD. His
research is currently being tested on mice models of autism.
Additional therapies are also being explored. For example, trials on mice
utilizing metabotropic glutamate receptor 5 (mGluR5) blockers have shown
promise. It has been commonly thought that a glutamate imbalance could
lead to many of the core symptoms of ASD; therefore, balancing glutamate
may lead to alleviating these symptoms.
Other therapies involve more individualized behavioral therapies and a more
away from a one size fits all approach to therapy. Since ASDs sit on a wide
spectrum, allowing for a wide spectrum of treatment options that may be
tailored to each individual also allows for optimum treatment, ensuring that
each individual may get his or her needs met fully.
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ASD And The Vaccine Controversy
Vaccines are considered one of the great advances in health care. However,
many parents have questions about the possible link between vaccinations
and ASD. These questions persist even after science has debunked
connections between vaccinations and autistic disorder, further discussed
below. Concerned parents will often ask clinicians about the danger of
vaccines to children and the possible link to ASD. The Centers of Disease
Control and Prevention provide helpful evidence based education that
clinicians can refer parents to when educating them about recommended
vaccines during childhood as well as for adults. In 2013, the Centers of
Disease Control and Prevention added to the existing research by publishing
a study that vaccines do not cause ASD.104-111
The concern over autism and vaccines first arose after Wakefield and
colleagues published a small and controversial study in The Lancet in 1998
that suggested that autism is related to the MMR (measles, mumps and
rubella) vaccine. This led to a media frenzy that in turn led to widespread
public concern and a decrease in MMR vaccination rates as well as several
measles outbreaks. The link between the MMR vaccine and ASD was never
substantiated, and The Lancet has since issued a retraction. Additionally,
Wakefield was found guilty of professional misconduct and lost his license to
practice medicine in the United Kingdom. Nevertheless, the idea that
vaccines and ASD are linked continues to receive a fair amount of public and
media attention. In addition, there has more recently been speculation that
thimerosal and other preservatives are responsible for the rise in autism in
spite of the removal of thimerosal from vaccinations.
Scientifically speaking, vaccinations are safe. The benefits of vaccines far
outweigh the risks they bring. There is not evidence of a relationship
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between ASD and vaccinations. Vaccinations in fact save millions of lives as
well as prevent long-term complications from life threatening diseases.
Legally speaking, vaccinations have also been found safe. However, the
decision to vaccinate continues to be a hotly debated and highly emotional
issue.
The rise in the incidence of ASD is a public health concern; therefore, it is
prudent to ask if there is any remaining scientific evidence for the concern
associating vaccinations and ASD. Some parents believe that the rise in ASD
is due to vaccinations; however, some researchers believe that the rise in
ASD diagnoses is because diagnostic tools have become more finely honed
and specified, allowing for more precise diagnosis than in previous years,
where individuals may have been diagnosed incorrectly. Additionally,
practitioners are receiving a greater level of education on ASD in recent
years than they received previously, increasing awareness as well as
allowing for more accurate diagnosis.
There have been a number of studies that have examined beliefs about
immunizations in families who have individuals who suffer from ASD, and
these studies reflect that beliefs that vaccinations are related to ASD persist.
For example, one study that examined 486 families registered on the
Interactive Autism Network found that 26.4% of the families who had at
least one child with ASD delayed vaccinations for other children; 18.9%
declined vaccinating their other children. When asked for their reasons for
delaying or declining vaccinations, the degree of belief in the link between
the vaccine and autism was the largest associated factor.
In another study of 197 children with ASD in western Los Angeles County,
researchers discovered half of caregivers stopped or altered vaccinations
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based on the belief that the vaccinations contributed to ASD. This indicated
to researchers that there is still a large gap between parental belief and
practices as well as medical practice and recommendations for childhood
immunizations.
It is important to note that parental beliefs have the power to adversely
affect vaccination practices and rates. In particular, those who are parents of
children with ASD may be more likely than others to change their
vaccination practices. These parents may also serve as sources of trusted
information for other families in their communities who fear ASD. Since
there is a high prevalence of ASD, it is important to understand the concerns
and vaccination practices of parents of children with ASD so that these
concerns and practices may be adequately addressed.
Researchers in the Los Angeles County study believe that the large
proportion of parents who think that vaccines cause their child’s ASD is
indicative of a communication barrier between practitioners and parents, in
addition to the powerful effect the media has on vaccine practices. This
communication barrier may exist for a couple reasons. For example,
physicians may believe that parents of children with ASD might not be open
to discussion about vaccination or that education will not cause a change in
beliefs, and parents may be fearful to ask questions or think that
practitioners do not value what they believe. One study found that those
parents who chose not to vaccinate felt estranged from and untrusting of
their doctors, and another study indicated that those caregivers who had
refused the MMR vaccine felt that their good intentions were not recognized.
Those parents of children with ASD often feel very guilty over the idea that
in vaccinating their child that they may have caused their child’s disorder.
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They then may be more likely to decline vaccines because they may be
concerned that they could make their child’s ASD worse or cause ASD in
their other children. Parents frequently perceive that practitioners
underestimate safety concerns as well as the impact of ASD on their family.
However, although parents frequently turn to outer sources such as media
for information, it is likely that they will continue to ask their practitioners
for information. Therefore, it is essential for practitioners to advance open
discussion as well as make it clear that both parent and practitioner share
the concern for the child’s welfare.
Summary
Autism Spectrum Disorders includes a group of developmental disorders
whose symptoms range on a continuum that runs from mild to severe in
expression. ASD is typically presented early in life at any time from infancy
or early childhood. Autism may keep a child from forming effective
relationships with other people, due in part to an inability to properly
interpret facial expressions or emotions. Children with autism spectrum
disorders may be resistant to cuddling or change, and they may play alone
or have delays in speech development.
It is not known what causes ASD. However, it is known that there are strong
genetic factors as well as non-genetic factors that play a role in causing an
ASD. An ASD may develop gradually, or there may be a regression course,
where the individual starts out developing normally and then loses acquired
skills. There are a number of risk factors for the development of ASD,
including gender, prenatal and perinatal factors, neuroanatomical anomalies
as well as environmental influences.
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The early diagnosis of ASD is of utmost importance. There are many testing
tools available for the diagnosis of ASD, and these tools allow parents and
clinicians to assess children to allow for early intervention. While there is no
cure for ASD, research indicates that early intervention allows for better
outcomes than does standard treatment protocols. The main goals of the
treatment of ASD are to lessen individual deficits and to lessen stress on the
family. There are several ways to do this all throughout the lifespan,
including structured teaching, behavioral therapy, speech and language
therapy, occupational therapy, social skills therapy, and the use of
medication. In addition, educating family members offers valuable ways to
cope.
It is important for clinicians to remember that there are positive aspects to
autism, such as the fact that many people with an ASD excel on certain
mental levels, such as counting and measuring, or at art, music, or memory.
Many family members also report feeling accomplished in caring for the
individual in their family who has autism, and feeling a deep sense of
fulfillment in being around their ASD sibling or child. Although there is no
cure for ASD, having a diagnosis of ASD is not hopeless. There is hope for
progress both in ASD research and for those diagnosed with an autism
spectrum disorder.
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1.
The primary goals of ASD treatments are to
a. lessen deficits and family stresses.
b. treatment through use of medication.
c. educating family and other caregivers about unique challenges of
an individual with ASD.
d. All of the above
2.
Secondary ASD can be caused by:
a.
b.
c.
d.
3.
Rett syndrome predominantly affects
a.
b.
c.
d.
4.
males.
females.
individuals during adolescence.
those of African descent.
Repetitive behaviors in individuals with ASD can include
a.
b.
c.
d.
5.
Fragile X syndrome
Tuberculosis
Rett Syndrome
Answers a., and c., above
arm and hand flapping.
rocking, twirling, and other complex body movements.
head banging.
All of the above
True or False: True or False: Several risk factors related to
pregnancy seem to simultaneously increase the risk of ASD with
a combined diagnosis of ADHD or ADHD symptoms, such as the
use of valproic acid during pregnancy.
a. True
b. False
6.
Individuals with ASD often have ADHD-like symptoms, which
include
a.
b.
c.
d.
hyperactivity, distractibility, excitability, difficulty concentrating.
impulsivity, short term memory loss, aggression, tension.
distractibility, fatigue, poor concentration and insomnia.
poor performance in school, conflict with peers, hyperactivity.
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7.
True or False: Treatment for children with both ASD and anxiety
is evolving and more research is needed on how to adapt
traditional approaches with cognitive behavioral therapy.
a. True
b. False
8.
Individuals with ASD thrive best in very well organized and
highly structured environments, which include those that
a.
b.
c.
d.
9.
promote a clear understanding of schedules.
provide activities.
establish expectations.
All of the above
True or False: Treatment with SSRIs is uncommon for children
with ASD.
a. True
b. False
10. Deficits from ASD may not be detected until later on in life
because of
a.
b.
c.
d.
the wide range of symptoms.
drug treatment for ASD.
lower social demands on an individual when he is young.
a lack of assistance from parents.
11. Which of the following are true of ASD?
a.
b.
c.
d.
ASD is believed to be caused by genetic and non-genetic factors.
The precise cause of ASD is genetic.
The precise cause of ASD is environmental.
There is a cure for ASD.
12. A child who appears to live within his or her own world is said
to
a.
b.
c.
d.
have Asperger’s syndrome.
excel in math, art and music.
have mindblindness.
have a pervasive developmental disorder.
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13. Autistic disorder may be associated with a number of physical
health issues, including
a.
b.
c.
d.
difficulties with motor coordination.
intellectual disability.
lack of attention.
gastrointestinal issues.
14. True or False: Asperger syndrome is recognized because the
individual has abnormal language development.
a. True
b. False
15. Symptoms of childhood disintegrative disorder (CDD), which
distinguishes it from Asperger syndrome include
a.
b.
c.
d.
problems modulating voice volume.
loss of control of the bladder or bowels.
an ability to start conversations.
monotone speech.
16. Those with PDD-NOS frequently have language or
communication issues, such as
a.
b.
c.
d.
they frequently take language literally.
they babble like a baby.
they understand sarcasm or if one is joking.
All of the above
17. A common behavioral symptom of PDD-NOS is perseveration,
which means
a.
b.
c.
d.
a
a
a
a
child
child
child
child
will withdraw for self-preservation.
has pervasive developmental disorder.
will dwell on certain events or subjects.
lacks the ability to pay attention.
18. Epilepsy is highly co-occurring with
a.
b.
c.
d.
PDD-NOS.
atypical Asperger syndrome.
Asperger’s syndrome.
childhood disintegrative disorder (“CDD”).
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19. Environmental factors during a mother’s pregnancy that may
lead to ASD include
a.
b.
c.
d.
a mother who had a viral or bacterial infection.
post-partum depression.
a child’s identical twin has ASD.
a breakdown in the child’s amygdala relay function.
20. Fragile X syndrome is a secondary ASD that presents
a.
b.
c.
d.
extreme difficulty with physical movement for the child.
with distinct characteristics (long face, larger ears, flexible joints).
multiple tumors that grow throughout the body.
with epileptic seizures.
21. Behavioral therapy programs use systems of
a.
b.
c.
d.
rewards to discourage behavior that is not desirable.
reward only because discipline has a negative connotation.
communications and reward.
reward and discipline.
22. The “theory of mind” (TOM) is an individual’s ability
a.
b.
c.
d.
to
to
to
to
dwell on certain events or subjects.
live within his or her own world.
understand others’ emotional states.
see the world through his or her own eyes.
23. Anticonvulsant drugs may be used to control seizures
associated with
a.
b.
c.
d.
primary ASD.
Asperger’s syndrome.
fragile X syndrome.
childhood disintegrative disorder (“CDD”).
24. True or False: Primary ASD accounts for 90% of ASD cases.
a. True
b. False
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25. New to the Diagnostic and Statistical Manual DSM-5 is
a.
b.
c.
d.
developmental disorders are now seen on a continuum.
the recognition that diagnosis may occur later in life.
disorders now range from mild to severe.
developmental disorders may present in early childhood.
26. ____________________ may not be utilized as a criterion for
applying a diagnosis of autistic disorder.
a.
b.
c.
d.
Reduced interest in other people
Inappropriate emotions
Language delays
Lack of empathy
27. A highly debated change to the revision of the DSM-5 is the
suggestion to remove ______________ as an autistic disorder.
a.
b.
c.
d.
Rett syndrome
Asperger syndrome
fragile X syndrome
secondary ASD
28. Symptoms of Autism Spectrum Disorders include
a.
b.
c.
d.
babbling.
an increased interest in other people.
that they imitate people.
that they do not imitate others.
29. Children with ASD often play with their toys
a.
b.
c.
d.
by lining objects up in a particular order.
by playing with their toys for hours.
by imitating how others play with the same toy.
but only for short periods of time.
30. One difference many children with ASD have when compared to
typical children is
a.
b.
c.
d.
they
they
they
they
have non-verbal IQs well above 70.
always have low intelligence.
have some level of mental retardation.
have obsessive-compulsive disorder (OCD).
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31. ASD children with a high level of giftedness (“savants”) in art,
music, or math, are estimated to be ________ of ASD children.
a.
b.
c.
d.
10%
a majority
less than 1%
30%
32. True or False: Some individuals with ASD may exhibit
compulsive behavior, which is the same as having obsessivecompulsive disorder (OCD).
a. True
b. False
33. Children with cognitive delay also miss general, developmental
milestones, such as
a.
b.
c.
d.
speaking their first words between 10–18 months of age.
utilizing trial and error by 12 months of age.
walking without assistance by 12-18 months of age.
All of the above
34. Research has indicated that fetal exposure to the drug
________________ during pregnancy may lower the child’s IQ
8-11 points, as compared with other drugs.
a.
b.
c.
d.
valproate
aripiprazole
methylphenidate
Ritalin
35. True or False: Individuals with restrictive activities can become
extremely upset if someone or something disrupts the order of
their things.
a. True
b. False
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36. Studies of families show that first-degree relatives of an autistic
individual had _________________ risk of developing ASD
when compared to those in the general population.
a.
b.
c.
d.
a decreased
a markedly increased
an equal
no significant
37. There is a ________ occurrence of ASD in monozygotic twins
(“MZ twins”) as opposed to dizygotic twins (“DZ twins”).
a.
b.
c.
d.
similar
lower
higher
equal
38. Joubert syndrome, Smith-Lemli-Opitz syndrome, Tuberous
Sclerosis, and Fragile X are all known
a.
b.
c.
d.
to
to
to
to
have complete penetrance for ASD.
diminish the genetic risk of ASD.
be specific to ASD.
cause ASD.
39. Mental retardation and other neurological disorders are major
risk factors for the following ASD comorbidity:
a.
b.
c.
d.
Apnea
Epilepsy
Anxiety
Obsessive-compulsive disorder (OCD)
40. The high prevalence of intellectual disabilities associated with
ASD are characterized by
a.
b.
c.
d.
cognitive deficits.
social deficits.
adaptive deficits.
All of the above
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41. Intellectual disabilities may lead to the co-occurrence of other
disorders, such as
a.
b.
c.
d.
catatonia.
regression.
gradual onset course.
epilepsy.
42. An individual with typical development, which is followed by
ASD-type behaviors falls into which category?
a.
b.
c.
d.
Secondary ASD
Regression course
Gradual onset course
Rett syndrome
43. True or False: Anticonvulsant medication may interfere with
moods or behaviors in patients with ASD.
a. True
b. False
44. The two approaches that have been taken in order to
understand the development of ASD are:
a.
b.
c.
d.
Primary and Secondary ASD.
Regression course and gradual onset course.
Retrospective and prospective.
Regressive and retrospective.
45. A _______________ approach is based on a review of medical
records, parental recall, or observations of videotapes made in
the home environment made prior to an ASD diagnosis.
a.
b.
c.
d.
regressive
gradual onset
prospective
retrospective
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46. __________________ studies help eliminate confusion caused
by “recall bias.”
a.
b.
c.
d.
Prospective
Developmental milestone
The “theory of mind” (TOM)
Retrospective
47. True or False: Recent studies show that all individuals with ASD
will also exhibit intellectual disorders.
a. True
b. False
48. The __________________ is said to occur when ASD signs and
symptoms present themselves little by little.
a.
b.
c.
d.
regression course
regressive course
gradual onset course
acute onset course
49. Currently, the American Academy of Pediatrics guidelines call
for the screening of toddlers at the ages of 18 and 24 months
a.
b.
c.
d.
if typical development is followed by ASD symptoms.
if a first-degree relative was diagnosed with ASD.
who have some ASD symptoms.
in all cases.
50. If a child develops normally up to about age 12 to 24 months
but then appears to lose acquired skills, that child is said to
follow
a.
b.
c.
d.
the
the
the
the
regression course.
regressive course.
gradual onset course.
acute onset course.
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51. ____________ is thought to lead to the more severe course of
autism.
a.
b.
c.
d.
Gradual onset
Regression
Retrospective onset
Acute onset
52. One of the manifestations of ASD most clearly seen in cognitive
decline is the loss of
a.
b.
c.
d.
the ability to dress oneself.
mindblindness.
voice modulation.
language skills.
53. The Communication and Symbolic Behavior Scales
Developmental Profile Infant-Toddler Checklist screening test
predicted autism and other developmental delays
approximately _____ of the time.
a.
b.
c.
d.
half
30%
75%
20%
54. True or False: There is no evidence of a relationship between
ASD and vaccinations such as the MMR (measles, mumps and
rubella) vaccine.
a. True
b. False
55. ________________ is the preferred medication for ASD
patients with ADHD.
a.
b.
c.
d.
methylphenidate
escitalopram
paroxetine
fluvoxamine
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56. Over 90% of the antipsychotics prescribed to children are
second-generation atypicals (SGAs), such as
________________.
a.
b.
c.
d.
methylphenidate
fluvoxamine
paroxetine
risperidone
57. There are 3 integrated components that form up the essence of
social interaction. These are:
a.
b.
c.
d.
cognition, adaptation and reaction.
thought, speech and language.
thinking, feeling, and doing.
augmentative, alternative and communicative.
58. The Early Start Denver Model (ESDM) is a behavioral
intervention program for children suffering from ASD, which is
a.
b.
c.
d.
appropriate for children as young as 12 months.
effective once a child is 3 years old.
effective in improving brain response but not social skills.
None of the above
59. An environmental risk factor that may contribute to a child
developing ASD is
a.
b.
c.
d.
a child having a first-degree relative with ASD.
a mother not taking prenatal vitamins.
the failure to test for ASD by age 12 months.
epileptic seizures.
60. True or False: Approximately 30% of children who experience
regression never manage conversational speech.
a. True
b. False
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61. The tics seen with Tourette syndrome may appear to be similar
to some of the motor stereotypies seen with ASD as
a.
b.
c.
d.
those with Tourette’s have the same social problems as with ASD.
ASD and Tourette’s have the same disabilities.
Tourette’s is a form of secondary ASD.
those with Tourette’s do not have the same disabilities as ASD.
62. The treatment plan for a child diagnosed with ASD includes
a.
b.
c.
d.
parental involvement.
reinforcing good behavior.
keeping the child involved in tasks.
All of the above
63. Applied Behavioral Analysis (ABA) is a behavioral therapy that
frequently utilizes
a.
b.
c.
d.
teaching of social skills.
a reward system.
confrontational techniques as well as punishment.
group activities.
64. True or False: Early detection of ASD or early intervention with
behavioral therapies does not improve outcomes for patients.
a. True
b. False
65. Many children exposed to environmental risk factors leading to
ASD
a.
b.
c.
d.
do NOT develop ASD.
develop ASD.
are predisposed to developing ASD.
are NOT genetically predisposed to developing ASD.
66. Autism spectrum disorder may be caused by a sensitivity to a
particular food, such as
a.
b.
c.
d.
gluten.
corn.
food dyes or preservatives.
All of the above
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67. A Univ. of Rochester study showed that ____ of parents of ASD
children reported they had quit a job, change a job, or not
accept a job as a result of childcare issues.
a.
b.
c.
d.
10%
only 3%
39%
15%
68. Families may discover many positive aspects to having a child
with ASD, such as finding
a.
b.
c.
d.
pleasure in caring for the child.
a sense of accomplishment in progress the child makes.
a strengthening of the family unit.
All of the above
69. Those who suffer from ASD thrive best in a ______________
environment.
a.
b.
c.
d.
group
reward only
highly structured
stress-free
70. Work systems used in ASD therapy are sequences that are
a.
b.
c.
d.
visually structured new tasks.
visually structured and involve previously taught skills.
highly structured.
visual schedules related to instructions.
71. True or False: Approaches that are based on B. F. Skinner’s
analysis of verbal behavior are superior to the Lovaas intensive
behavioral intervention (EIBI) method.
a. True
b. False
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72. Speech-language therapy is an intensive therapy program
useful for
a.
b.
c.
d.
ASD children who are verbal.
ASD children who are already interactive.
verbal and nonverbal ASD children.
ASD children who have a level of verbal aptitude.
73. In order to approach social skills therapy in those with ASD, a
five-stage approach must be taken. This approach includes
understanding the difference between
a.
b.
c.
d.
skill acquisition deficits and performance deficits.
augmentative and alternative communicative devices.
verbal and nonverbal communication methods.
regression and regressive onset.
74. True or False: Any approach to social skills therapy for those
with ASD, must include an evaluation of the selected program
and modification of the program as needed.
a. True
b. False
75. The Autism Diagnostic Interview – Revised (ADI-R) is a clinical
diagnostic tool utilized to assess autistic disorder
a.
b.
c.
d.
in gradual onset course cases.
having environmental risk factors.
in children age 12-24 months.
in children and adults with a mental age of 18 months or older.
76. Hyper and hypo sensitivity as well as general sensitivity
overload in relation to vision, taste, sound, touch, and smell
relates to
a.
b.
c.
d.
sensory processing disorder.
oppositional defiant disorder (“ODD”).
ADHD.
Fragile X syndrome.
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77. According to the DSM and ICD-10, a diagnosis of either autism
or Asperger syndrome automatically precludes a diagnosis of
a.
b.
c.
d.
oppositional defiant disorder.
ADHD.
primary ASD.
regression course ASD.
78. True or False: ASD is understood to be the result of a
combination of genetic and non-genetic factors:
a. True
b. False
79. Teaching an autistic individual how to type because he or she
finds handwriting too difficult is an example of
a.
b.
c.
d.
interventional therapy.
instituting floortime.
developing adaptive strategies and techniques.
using play activities.
80. Those with ASD may sometimes be described as having
selective hearing, which may be illustrated by the following
statement:
a. they only hear what they want to hear.
b. they may not respond to their name, but are overly sensitive to
other noises.
c. they are over-responsive to all noises.
d. they are limited to nonverbal communication.
81. True or False. Children with ASD who also have attention
deficits do not respond predictably to stimulant medications
(i.e., methylphenidate) that may be prescribed for children with
attention deficit disorder.
a. True.
b. False.
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82. True or False. There are potentially minor benefits of
atomoxetine in those children with ASD and ADHD-like
symptoms.
a. True.
b. False.
CORRECT ANSWERS:
1.
The primary goals of ASD treatments are to:
d. All of the above.
“The primary goals of ASD treatments are to lessen deficits and to
lessen family stresses. There are a number of ways to do these
things, including applied behavioral therapy, structured teaching,
speech and language therapy, social skills therapy, occupational
therapy, and the use of medication. Additionally, educating parents,
caregivers, and siblings and providing these individuals with ways
to cope with the unique challenges that having an individual with
ASD in the household brings helps in alleviating the inevitable
resulting family stress.”
2.
Secondary ASD can be caused by:
d. Answers a., and c., above.
“Sometimes another medical condition may be the cause of ASD.
Some of these conditions that can cause symptoms of ASD
(secondary ASD) are listed here. Fragile X Syndrome. This is an
uncommon condition that occurs more frequently in boys than it
does in girls. It occurs in about 1 in every 3600 boys, and in about
1 in every 6000 girls, and presents with certain distinct
characteristics such as a long face, larger ears, and flexible joints.
Tuberous Sclerosis. This is a rare condition that results in multiple
tumors to grow throughout the body. The tumors are not
cancerous. This condition occurs in approximately 1 in every 6000
children. Rett Syndrome. This condition, also discussed above, is
included here as a rare secondary ASD and almost always occurs in
girls. It causes extreme difficulty with physical movement, and the
individual suffering from Rett syndrome nearly always requires full
assistance with daily tasks. Approximately 1 in every 20,000 girls
has Rett syndrome.”
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3.
Rett syndrome predominantly affects
b. females.
“Rett Syndrome. This condition, also discussed above, is included
here as a rare secondary ASD and almost always occurs in girls.”
4.
Repetitive behaviors in individuals with ASD can include
d. All of the above.
“Repetitive behaviors can include arm and hand flapping, finger
flicking, rocking, jumping, twirling, spinning, head banging, and
more complex body movements. Repetitive movements also include
the repetitive usage of an object, such as the repetitive flick of a
rubber band or repetitively stroking a piece of fabric.”
5.
True or False: Several risk factors related to pregnancy seem to
simultaneously increase the risk of ASD with a combined
diagnosis of ADHD or ADHD symptoms, such as the use of
valproic acid during pregnancy.
a. True
“Additionally, several risk factors related to pregnancy seemed to
simultaneously increase the risk of ASD with a combined diagnosis
of ADHD or ADHD symptoms, such as the use of valproic acid,
maternal diabetes, pre-eclampsia, and viral or bacterial infections
during pregnancy.”
6.
Individuals with ASD often have ADHD-like symptoms, which
include
a. hyperactivity, distractibility, excitability, difficulty concentrating.
“Individuals who suffer from ASD often also have ADHD-like
symptoms. These symptoms may include symptoms such as
hyperactivity, distractibility, excitability, and difficulty
concentrating.”
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7.
True or False: Treatment for children with both ASD and anxiety
is evolving and more research is needed on how to adapt
traditional approaches with cognitive behavioral therapy.
a. True
“Treatment for children with both ASD and anxiety is woefully
inadequate. Further research is needed in this area, in particular in
such areas as adapting traditional approaches such as cognitive
behavioral therapy (CBT) to ASD populations.”
8.
Individuals with ASD thrive best in very well organized and
highly structured environments, which include those that
d. All of the above.
“Those who suffer from ASD thrive best in very well organized and
highly structured environments. Structured environments are
considered those that promote a clear understanding of schedules,
activities, and expectations not just for the individual who suffers
from ASD but also for their caregivers and teachers.”
9.
True or False: Treatment with SSRIs is uncommon for children
with ASD.
b. False
“Treatment with SSRIs is common. This is because the maladaptive
and repetitive behaviors frequently exhibited by those with ASD
resemble those with obsessive-compulsive disorder.”
10. Deficits from ASD may not be detected until later on in life
because of
c. lower social demands on an individual when he is young.
“ASD is typically present early in life, from infancy or early
childhood, however, deficits from ASD may not be detected until
later on, possibly due to parental or caregiver assistance and
limitations placed on social exposure involving the autistic
individual.”
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11. Which of the following are true of ASD?
a. ASD is believed to be caused by genetic and non-genetic factors.
“Most researchers agree that ASD is a combination of genetic and
non-genetic factors, with the individual who is genetically
predisposed having been exposed to factors that then make him or
her more vulnerable to developing an ASD.”
12. A child who appears to live within his or her own world is said
to
c. have mindblindness.
“Autistic disorder is also known as autism or mindblindness. This
disorder generally presents sometime in the first three years of life,
and the child appears to live within its own world.”
13. Autistic disorder may be associated with a number of physical
health issues, including
d. gastrointestinal issues.
“Autistic disorder may be associated with a number of infirmities,
including difficulties with motor coordination and attention,
intellectual disability, and physical health issues such as
gastrointestinal issues or sleep issues.”
14. True or False: Asperger syndrome is recognized because the
individual has abnormal language development.
b. False
“The prevalence of Asperger syndrome is not well known. It is not
even well recognized prior to the age of 5 or 6, primarily because
the individual has normal language development.”
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15. Symptoms of childhood disintegrative disorder (CDD), which
distinguishes it from Asperger syndrome include
b. loss of control of the bladder or bowels.
“Symptoms of CDD include the following: a delay or lack of
language, impaired nonverbal behavior, an inability to start or to
maintain conversation, failure to play, loss of control of the bladder
or bowels, loss of previously established language or
communication skills, loss or motor or skills, and; problems forming
relationships with others have been identified.”
16. Those with PDD-NOS frequently have language or
communication issues, such as
a. they frequently take language literally.
“Those with PDD-NOS may not babble as babies. They also
frequently take language literally and do not have an understanding
of things such as sarcasm or joking language.”
17. A common behavioral symptom of PDD-NOS is perseveration,
which means
c. a child will dwell on certain events or subjects.
“Another common behavioral symptom is perseveration, which
means the child will tend to dwell on certain events or subjects.
Individuals with PDD-NOS may become fixated on one topic or play
only with one toy that is associated with a particular area.”
18. Epilepsy is highly co-occurring with
d. childhood disintegrative disorder (“CDD”).
“Additionally, epilepsy is highly co-occurring with CDD, and
anticonvulsant drugs may be utilized to control seizures.”
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19. Environmental factors during a mother’s pregnancy that may
lead to ASD include
a. a mother who had a viral or bacterial infection.
“Additionally, several risk factors related to pregnancy seemed to
simultaneously increase the risk of ASD with a combined diagnosis
of ADHD or ADHD symptoms, such as the use of valproic acid,
maternal diabetes, pre-eclampsia, and viral or bacterial infections
during pregnancy.”
20. Fragile X syndrome is a secondary ASD that presents
b. with distinct characteristics (long face, larger ears, flexible
joints).
“Fragile X Syndrome. This is an uncommon condition that occurs
more frequently in boys than it does in girls. It occurs in about 1 in
every 3600 boys, and in about 1 in every 6000 girls, and presents
with certain distinct characteristics such as a long face, larger ears,
and flexible joints.”
21. Behavioral therapy programs use systems of
d. reward and discipline.
“Behavioral therapy programs use systems of reward and discipline
to reinforce behavior that is desirable and to discourage behavior
that is not desirable.”
22. The “theory of mind” (TOM) is an individual’s ability
c. to understand others’ emotional states.
“Theory of the mind is an individual’s ability to understand others’
emotional states; and, at its core involves seeing the world through
the eyes of the other person.”
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23. Anticonvulsant drugs may be used to control seizures
associated with
d. childhood disintegrative disorder (“CDD”).
“Additionally, epilepsy is highly co-occurring with CDD, and
anticonvulsant drugs may be utilized to control seizures.”
24. True or False: Primary ASD accounts for 90% of ASD cases.
a. True
“Ninety percent of all ASD cases are primary ASD.”
25. New to the Diagnostic and Statistical Manual DSM-5 is
b. the recognition that diagnosis may occur later in life.
“It is not always easy to detect specific signs and symptoms of
ASD, particularly the early ones. This aspect of ASD is, in particular,
important to the changes in the DSM-5 because onset of symptoms
prior to age 3 has been removed. The deletion of the age criteria in
the diagnosis of ASD in general highlights the fact that some
individuals are diagnosed later in life, as adolescents or adults.”
26. ____________________ may not be utilized as a criterion for
applying a diagnosis of autistic disorder.
c. Language delays
“It has been suggested that the presence of language delays not be
utilized as criteria for applying a diagnosis of autistic disorder. This
is because it has been well established that a language delay is not
a symptom that is specific to ASD.”
27. A highly debated change to the revision of the DSM-5 is the
suggestion to remove ______________ as an autistic
disorder.
b. Asperger syndrome
“A highly debated change to the revision of the DSM-5 is the
suggestion to remove Asperger syndrome. However, the suggestion
to remove Asperger syndrome is based on study evidence that
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indicates that there is no clear difference between Asperger’s and
autistic disorder where outcome is concerned.”
28. Symptoms of Autism Spectrum Disorders include
d. that they do not imitate others.
“By 8–10 months of age, infants who go on to develop ASD are
generally showing some symptoms such as the failure to respond to
their names, a reduced interest in other people, and a delay in
babbling. By the time they are toddlers, many of these children
have difficulties playing socially with other children. Additionally,
they do not imitate others and they often prefer to play on their
own instead of with other children. They may not seek comfort from
parents or caregivers as well as show a failure to respond to anger
or affection in ways that are typical.”
29. Children with ASD often play with their toys
a. by lining objects up in a particular order.
“Restrictive activities can be clearly seen in the ways children with
ASD play with their toys. Instead of actually playing with their toys,
these children will often spend hours lining the toys up in a specific
order.”
30. One difference many children with ASD have when they are
compared to typical children is
c. they have some level of mental retardation.
“While cognitive abilities vary, a great many children who have ASD
also have some level of mental retardation. About 75% of people
who have ASD have a non-verbal IQ that is below 70, although ASD
may also occur in individuals who are of normal or high
intelligence.”
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31. ASD children with a high level of giftedness (“savants”) in
art, music, or math, are estimated to be ________ of ASD
children.
c. less than 1%
“However, this category or individuals typically referred to as
savants is typically very small and is estimated to comprise less
than 1% of ASD children.”
32. True or False: Some individuals with ASD may exhibit
compulsive behavior, which is the same as having obsessivecompulsive disorder (OCD).
b. False
“There may also be compulsive behavior in addition to obsessive
behavior that is developed. This means that the individual may do
things like wash their hands or check locks constantly. This
behavior is not the same as having obsessive-compulsive disorder
(OCD), although it strongly mirrors it.”
33. Children with cognitive delay also miss general,
developmental milestones, such as
d. All of the above
“Children with cognitive delay often present with other delays as
well. They also miss general developmental milestones, particularly
the following: Speaking their first words, generally at age 10–18
months … Responding to simple instructions, exploring on one’s
own, utilizing trial and error, generally at age 12 months … Walking
without aid, generally at age 12 – 18 months.”
34. Research has indicated that fetal exposure to the drug
________________ during pregnancy may lower the child’s
IQ 8-11 points, as compared with other drugs.
a. valproate
“Researchers indicated that the use of valproate during pregnancy
led to significant cognitive effects in children, with the child IQ
being 8 – 11 points lower (as compared with the other drugs).”
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35. True or False: Individuals with restrictive activities can
become extremely upset if someone or something disrupts
the order of their things.
a. True
“Individuals with restrictive activities can become extremely upset if
someone or something disrupts the order of their things.”
36. Studies of families show that first-degree relatives of an
autistic individual had _________________ risk of
developing ASD when compared to those in the general
population.
b. a markedly increased
“Studies in families indicate that first-degree relatives of those who
are autistic have a marked increased risk of developing ASD as
compared to those in the general population.”
37. There is a ______________ occurrence of ASD in
monozygotic twins (“MZ twins”) twins as opposed to
dizygotic twins (“DZ twins”).
c. higher
“Since MZ twins share 100% of genetic material, and DZ twins
share 50% of genetic material (which is similar to siblings who are
not twins), and both of these types of twins share an environment
in utero, the higher disease occurrence in MZ twins as opposed to
DZ twins supports the genetic etiology.”
38. Joubert syndrome, Smith-Lemli-Opitz syndrome, Tuberous
Sclerosis, and Fragile X are all known
d. to cause ASD.
“For instance, conditions such as Joubert syndrome, Smith-LemliOpitz syndrome, Tuberous Sclerosis, and Fragile X are all known to
cause ASD,…”
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39. Mental retardation and other neurological disorders are major
risk factors for the following ASD comorbidity:
b. Epilepsy
“Major risk factors for occurrence of a seizure are mental
retardation as well as the presence of additional neurological
disorders. Therapeutic approaches to epilepsy in ASD include
conventional treatments; however, should seizures not be evident,
there is controversy as to what treatments should be utilized.”
40. The high prevalence of intellectual disabilities associated with
ASD are characterized by
d. All of the above.
“Intellectual disabilities are characterized by cognitive, social, and
adaptive deficits, leading to the co-occurrence with other disorders,
such as ADHD, mood disorders, and catatonia and repetitive
behaviors, which further complicate matters.”
41. Intellectual disabilities may lead to the co-occurrence of
other disorders, such as
a. catatonia.
“Intellectual disabilities are characterized by cognitive, social, and
adaptive deficits, leading to the co-occurrence with other disorders,
such as ADHD, mood disorders, and catatonia and repetitive
behaviors, which further complicate matters.”
42. An individual with typical development, which is followed by
ASD-type behaviors falls into which category?
b. Regression course
“The other category involves a rather typical development. This
typical development is then followed by loss of language or social
skills, sometimes with loss of both, that is paired with an
emergence of ASD-type behaviors such as repetitive or
stereotypical behaviors. This is termed regression course.”
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43. True or False: Anticonvulsant medication may interfere with
moods or behaviors in patients with ASD.
a. True
“Anticonvulsant medication may interfere with moods or behaviors,
and disturbances in moods and behaviors are often observed in
those patients with ASD.”
44. The two approaches that have been taken in order to
understand the development of ASD are:
c. Retrospective and prospective.
“There are two approaches that have been taken in order to
understand the development of ASD. These approaches are
retrospective and prospective.”
45. A _______________ approach is based on a review of
medical records, parental recall, or observations of
videotapes made in the home environment made prior to an
ASD diagnosis.
d. retrospective
“Retrospective approaches are mainly based on information gained
from reviews of medical records, parental recall, or observational
coding of videotapes made in the home environment during the first
or second year of life prior to the ASD diagnosis.”
46. __________________ studies help eliminate confusion
caused by “recall bias.”
a. Prospective
“Prospective studies are considered optimal to investigate the
timing and nature of how ASD emerges because prospective,
longitudinal studies conducted from infancy would provide a means
of determining patterns of development in those children who are
later diagnosed with ASD. This would later eliminate such
confounds as recall bias.”
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47. True or False: Recent studies show that all individuals with
ASD will also exhibit intellectual disorders.
b. False
“Recent findings indicate that those with ASD also have a high
prevalence of intellectual disorders.”
48. The __________________ is said to occur when ASD signs
and symptoms present themselves little by little.
c. gradual onset course
“The gradual onset course occurs just as its name suggests; signs
and symptoms present themselves gradually.”
49. Currently, the American Academy of Pediatrics guidelines call
for the screening of toddlers at the ages of 18 and 24 months
d. in all cases.
“Currently, the American Academy of Pediatrics guidelines call for
the screening of all toddlers at the ages of 18 and 24 months.”
50. If a child develops normally up to about age 12 to 24 months
but then appears to lose acquired skills, that child is said to
follow
a. the regression course.
“The regression course occurs when a child is following a pattern of
normal development, generally for the first 12–24 months of life,
and then he or she appears to lose skills he or she has acquired.”
51. ____________ is thought to lead to the more severe course
of autism.
b. Regression
“Regression is thought to lead to the more severe course of autism,
particularly when young children abruptly lose acquired skills,
according to a study published in the Journal of Autism and
Developmental Disorders.”
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52. One of the manifestations of ASD most clearly seen in
cognitive decline is the loss of
d. language skills.
“However, one of the manifestations most clearly seen in cognitive
decline is the loss of language skills.”
53. The Communication and Symbolic Behavior Scales
Developmental Profile Infant-Toddler Checklist screening test
predicted autism and other developmental delays
approximately _____ of the time.
c. 75%
“The screening utilized for autism in childhood – called the
Communication and Symbolic Behavior Scales Developmental
Profile Infant-Toddler Checklist, took the parents approximately 5
minutes to complete; and, the screening test predicted autism and
other developmental delays approximately 75% of the time.”
54. True or False: There is no evidence of a relationship between
ASD and vaccinations such as the MMR (measles, mumps and
rubella) vaccine.
a. True
“The link between the MMR vaccine and ASD was never
substantiated,…”
55. ________________ is the preferred medication for ASD
patients with ADHD.
a. methylphenidate
“Methylphenidate is the preferred medication, mostly because it has
been used in most of the clinical research. Short acting formulas
should be used first so as to gauge tolerance. Although there are a
number of trials that demonstrate the efficacy of methylphenidate
in treating the ADHD-like symptoms in children who have ASD, the
strongest evidence to this point comes from RUPP trials.”
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56. Over 90% of the antipsychotics prescribed to children are
second-generation atypicals (SGAs), such as
________________.
d. risperidone
“Over 90% of the antipsychotics prescribed to children are secondgeneration atypicals (SGAs). Risperidone is the most well studied
SGA in ASD and is considered one of the most commonly prescribed
of the antipsychotics in children.”
57. There are 3 integrated components that form up the essence
of social interaction. These are:
c. thinking, feeling, and doing.
“There are 3 integrated components that form up the essence of
social interaction. These are: thinking, feeling, and doing.”
58. The Early Start Denver Model (ESDM) is a behavioral
intervention program for children suffering from ASD, which
is
a. appropriate for children as young as 12 months.
“The Early Start Denver Model (ESDM), which is a behavioral
intervention program appropriate for children as young as 12
months who are suffering from ASD, has been found in more than
one study to be effective in improving brain response as well as
social skills.”
59. An environmental risk factor that may contribute to a child
developing ASD is
b. a mother not taking prenatal vitamins.
“One more environmental risk factor may be not taking prenatal
vitamins, as taking prenatal vitamins has been shown to slightly
reduce the odds that a child will develop ASD.”
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60. True or False: Approximately 30% of children who
experience regression never manage conversational speech.
a. True
“Approximately 30% of children who experience regression never
manage conversational speech.”
61. The tics seen with Tourette syndrome may appear to be
similar to some of the motor stereotypies seen with ASD as
d. those with Tourette’s do not have the same disabilities as ASD.
“The tics seen with Tourette syndrome may appear to be similar to
some of the motor stereotypies seen with ASD. Those with Tourette
syndrome will generally not have the social or communication
problems seen with ASD though. However, there may still be some
isolation due to embarrassment or avoidance of peers, which should
be taken into account.”
62. The treatment plan for a child diagnosed with ASD includes
d. All of the above
“The key is to combine interventions, with the goal being to engage
the child’s unique combination of special interests in an effort to
keep the child involved with tasks. Good behaviors should also be
positively reinforced…. One key factor to lessening deficits is
parental involvement, which is instrumental to the success of
treatment.”
63. Applied Behavioral Analysis (ABA) is a behavioral therapy
that frequently utilizes
c. confrontational techniques as well as punishment.
“Another therapy that is frequently utilized, and is considered the
gold standard of behavioral therapy, is Applied Behavioral Analysis
(ABA). This behavioral therapy is a technique that is utilized to
reduce inappropriate behavior while increasing communication and
increasing appropriate social behaviors. ABA frequently utilizes
confrontational techniques as well as punishment (i.e., time outs
from preferred objects or activities, or removal of a token) in
attempts to decrease behaviors that are unwanted.”
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64. True or False: Early detection of ASD or early intervention
with behavioral therapies does not improve outcomes for
patients.
b. False
“Early detection of ASD allows for practitioners to intervene in a
more timely way with behavioral therapies that may then improve
outcomes.”
65. Many children exposed to environmental risk factors leading
to ASD
a. do NOT develop ASD.
“What is important to note regarding environmental risk factors is
they do not affect a child in a vacuum. Many children are exposed
to environmental risk factors without developing ASD.”
66. Autism spectrum disorder may be caused by a sensitivity to a
particular food, such as
d. All of the above
“It is thought that this trigger may be a sensitivity to a particular
food that the individual with ASD consumes on a regular basis, such
as gluten, casein, corn, nightshade vegetables such as tomatoes or
potatoes, soy, or food dyes or preservatives.”
67. A Univ. of Rochester study showed that ____ of parents of
ASD children reported they had quit a job, change a job, or
not accept a job as a result of childcare issues.
c. 39%
“In addition, in another study conducted by the University of
Rochester, researchers indicated that 39% of parents of those with
ASD stated that they had quit a job, changed a job, or not accepted
a job as a result of childcare issues that were related to having a
child who suffered from ASD…”
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68. Families may discover many positive aspects to having a child
with ASD, such as finding
d. All of the above.
“However, it is important to remember that there are positive
aspects to autism, such as the fact that many people with ASD
excel on certain mental levels, such as counting and measuring, or
at art, music, or memory. Many family members also report feeling
accomplished in caring for the individual in their family who has
autism, and feeling a deep sense of fulfillment in being around their
ASD sibling or child.”
69. Those who suffer from ASD thrive best in a ______________
environment.
c. highly structured
“Those who suffer from ASD thrive best in very well organized and
highly structured environments. Structured environments are
considered those that promote a clear understanding of schedules,
activities, and expectations not just for the individual who suffers
from ASD but also for their caregivers and teachers.”
70. Work systems used in ASD therapy are sequences that are
b. visually structured and involve previously taught skills.
“Work systems are sequences that are visually structured and
provide opportunities to practice skills, activities, or concepts that
have been previously taught. The key here is that these are visually
structured to increase independence.”
71. True or False: Approaches that are based on B. F. Skinner’s
analysis of verbal behavior are superior to the Lovaas
intensive behavioral intervention (EIBI) method.
b. False
“It does still remain unclear whether or not approaches that are
based on Skinner’s analysis of verbal behavior are superior to the
Lovaas method. However, regardless of whether this is the case or
not, ABA treatments of all types assist individuals with ASD in living
more fulfilling lives.”
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72. Speech-language therapy is an intensive therapy program
useful for
c. verbal and nonverbal ASD children.
“With a number of techniques, speech-language therapy addresses
a number of challenges faced by those individuals who suffer ASD….
Even if a person is nonverbal, they can benefit from the skills of a
speech-language therapist.”
73. In order to approach social skills therapy in those with ASD, a
five-stage approach must be taken. This approach includes
understanding the difference between
a. skill acquisition deficits and performance deficits.
“In order to approach social skills therapy in those with ASD, a fivestage approach must be taken. This approach includes: Discerning
between skill acquisition deficits and performance deficits…”
74. True or False: Any approach to social skills therapy for those
with ASD, must include an evaluation of the selected program
and modification of the program as needed.
a. True
“In order to approach social skills therapy in those with ASD, a fivestage approach must be taken. This approach includes:
Evaluating the selected program and modifying the program as
needed…”
75. The Autism Diagnostic Interview – Revised (ADI-R) is a
clinical diagnostic tool utilized to assess autistic disorder
d. in children and adults with a mental age of 18 months or older.
“The ADI-R is appropriate for use in with children and adults who
have a mental age of 18 months and older.”
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76. Hyper and hypo sensitivity as well as general sensitivity
overload in relation to vision, taste, sound, touch, and smell
relates to
a. sensory processing disorder.
“These sensory abnormalities have primarily been described in
relation to vision, taste, sound, touch, and smell, to include hyper
and hypo sensitivity as well as general sensitivity overload.”
77. According to the DSM and ICD-10, a diagnosis of either
autism or Asperger syndrome automatically precludes a
diagnosis of
b. ADHD.
“To further complicate matters, according to the DSM as well as the
ICD-10, a diagnosis of either autism or Asperger syndrome
automatically precludes a diagnosis of ADHD.”
78. True or False: ASD is understood to be the result of a
combination of genetic and non-genetic factors:
a. True
“Most researchers agree that ASD is a combination of genetic and
non-genetic factors, with the individual who is genetically
predisposed having been exposed to factors that then make him or
her more vulnerable to developing an ASD.”
79. Teaching an autistic individual how to type because he or she
finds handwriting too difficult is an example of
c. developing adaptive strategies and techniques.
“Develops adaptive strategies and techniques to maneuver around
disabilities. One example of this would be teaching the individual
typing should he or she find handwriting too difficult.”
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80. Those with ASD may sometimes be described as having
selective hearing, which may be illustrated by the following
statement:
b. they may not respond to their name, but are overly sensitive to
other noises.
“Often this can be due to a history of fluid or recurrent otitis media.
Those with hearing impairments frequently have speech delays but
typically may use a compensatory nonverbal type of
communication. These children will make eye contact and utilize
facial expression. Those with ASD however can sometimes be
described as having selective hearing (they may not respond if
someone calls their name, but they become overly sensitive to
other noise). Those with hearing impairments are generally underresponsive to all noises, although this may be somewhat variable
dependent upon the degree of hearing loss.”
81. True or False. Children with ASD who also have attention
deficits do not respond predictably to stimulant medications
(i.e., methylphenidate) that may be prescribed for children with
attention deficit disorder.
a. True.
“… children with ASD who also have attention deficits do not
respond predictably to stimulant medications (i.e., methylphenidate)
that may be prescribed for children with attention deficit disorder.”
82. True or False. There are potentially minor benefits of
atomoxetine in those children with ASD and ADHD-like
symptoms.
a. True.
“there are potentially minor benefits of atomoxetine in those children
with ASD and ADHD-like symptoms.”
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