Download What is Autism and What in the World are We Going to do

What is Autism?
….and What in the World are We
Going to do About It?
David E. Berry, D.O., Ph.D.
LewisGale Physicians
Blacksburg Pediatrics
Associate Adjunct Clinical Professor
Edward Via Virginia College of
Osteopathic Medicine
Disclosures
The following speaker reported no relevant financial
relationships to disclose.
David E. Berry, D.O., Ph.D.
The following speaker(s) reported financial relationships:
None
The planning committee members reported no relevant
financial relationships to disclose
DON'T
BE
AFRAID
What is the best label?
Christopher, aged 4 years, has been referred to a
multidisciplinary child development centre
because of concern about his failure to develop
normal language and social behaviour. He is seen
by a paediatric neurologist, a child psychiatrist, a
speech therapist and a psychologist.
What is the best label?
At the case conference, the paediatric
neurologist proposes that the child has
developmental dysphasia, on the grounds
that his comprehension is poor and his
expressive language abnormal, but
hearing is adequate, ability to do nonverbal tasks such as copying or jigsaw
puzzles is good, and there are no
neurological signs.
What is the best label?
The psychologist, however, thinks that the
child is autistic because, as well as having
a language problem, his social behaviour
is poorly developed: he does not play well
with other children and lacks warmth in his
relationships with his parents.
What is the best label?
The child psychiatrist argues that the child's social and
language abnormalities are not severe enough to
warrant a diagnosis of infantile autism: he does initiate
communication with others, makes eye contact and
enjoys rough and tumble play, but he tends to get
rejected by other children because he wants them to
participate in his repetitive activities and is insensitive to
their needs. Christopher can produce long and
complicated sentences, but his responses to questions
are often inappropriate, and he often asks questions of
others while disregarding the answers he receives. The
psychiatrist suggests a diagnosis of Asperger's
syndrome.
What is the best label?
The speech therapist states that an analysis of
Christopher's language shows that it is
phonologically and grammatically normal, but there
are many abnormalities in the way in which
language is used, and comprehension in
conversational contexts is poor. She suggests that
this is a case of semantic-pragmatic disorder. The
psychologist responds that semantic-pragmatic
disorder is just another name for autism.
What is the best label?
A visiting American paediatrician is asked
to comment on the case. She examines
Christopher carefully and proposes that
this is a case of PDD NOS (pervasive
developmental disorder not otherwise
specified).
British Journal of Disorders of Communication 24, 107-121 (1989)
© The College of Speech Therapists, London
Autism, Asperger's syndrome and semantic-pragmatic
disorder: Where are the boundaries?
D. V. M. Bishop
Department of Psychology, University of Manchester
What is autism?
•
The word "autism," which has been in use for about 100 years, comes from the
Greek word "autos," meaning "self." The term describes conditions in which a
person is removed from social interaction -- hence, an isolated self.
•
Eugen Bleuler, a Swiss psychiatrist, was the first person to use the term. He
started using it around 1911 to refer to one group of symptoms of
schizophrenia.
•
In the 1940s, researchers in the United States began to use the term "autism" to
describe children with emotional or social problems. Leo Kanner, a doctor
from Johns Hopkins University, used it to describe the withdrawn behavior of
several children he studied. At about the same time, Hans Asperger, a scientist
in Germany, identified a similar condition that’s now called Asperger’s
syndrome
What do you see?
• One symptom common to all types of
autism is an inability to easily communicate
and interact with others. In fact, some
people with autism are unable to
communicate at all. Others may have
difficulty interpreting body language or
holding a conversation.
What do you look for?
Other symptoms linked to autism may
include unusual behaviors in any of these
areas:
• interest in objects or specialized
information
• reactions to sensations
• ways of learning
Furthermore...
• These symptoms are
usually seen early in
development. Most
children with severe
autism are diagnosed by
age 3. Some children with
milder forms of autism,
such as Asperger's
syndrome, may not be
diagnosed until later when
their problems with social
interaction cause
difficulties at school.
The Autism Group
• Pervasive development disorders (PDD)
– Autism
– Asperger's disorder
– Pervasive developmental disorder NOS
– Rett syndrome
– Childhood integrative disorder
Autistic Disorder
• Children with autistic disorder
– cannot use verbal or non-verbal communication
to interact effectively with others
– have severe delays in learning language.
– have obsessive interest in certain objects or
information.
– perform certain behaviors repeatedly.
– symptoms must have been noted before age 3.
“Autism” is not...
• Pervasive development disorder -- not otherwise
specified (PDD-NOS):
• Children diagnosed with "atypical autism"
• Children with PDD-NOS have symptoms that do
not exactly fit those of autistic disorder or any
other ASD.
– symptoms may have developed after age 3.
– symptoms may not be severe enough
Asperger's Syndrome
• Many of the same symptoms
• Average or above average intelligence.
• Want to be social with others but don’t know how
to go about it.
• Not be able to understand others' emotions.
• May not read facial expressions or body language
well.
• Symptoms may not become apparent until school
when behavior and communication with peers
become more important.
Socially appropriate?
Rett Syndrome
• Children with this severe, rare condition
• normal development from birth through
about 5 months of age.
• from about 5 to 48 months of age, head
circumference development slows. Children
lose motor skills
• social interaction and language development
become impaired.
Childhood Integrative Disorder
• Children begin developing normally.
• From about age 2 to age 10, children are
increasingly less able to interact and communicate
with others.
• They develop repetitive movements and obsessive
behaviors and interests.
• Lose motor skills, too.
• Become disabled.
• Rarest and most severe autism spectrum disorder.
DSM
Diagnostic
and
Statistical
Manual of
Mental
Disorders
Autism DSM I 1952
Schizophrenic reaction occurring before puberty
May differ from schizophrenic reactions occurring in other
periods because of the immaturity and plasticity of the patient
at the time of onset
Primarily includes autism
Autism DSM II 1968
Schizophrenia, childhood type
Symptoms appear before puberty
May be manifested by
Autistic, atypical and withdrawn behavior
Failure to develop an identity separate from mother’s
General unevenness
Gross immaturity and inadequacy of development
May result in mental retardation
Infantile Autism DSM III 1980
Onset before 30 mo of age
Pervasive lack of responsiveness to other people’s
Gross deficits in language development
Peculiar speech patterns
Echolalia
Metaphorical language
Pronominal reversal
Bizarre response to environment
Resistant to change
Peculiar interests or attachments
Absence of delusions, hallucinations, loosening of associations,
and incoherence
Autism DSM III-R 1987
A. Qualitative impairment in reciprocal social interaction
Lack of awareness of feelings of others
No or abnormal seeking of comfort at times of distress
No or impaired imitation
No or abnormal social play
Gross impairment in ability to make peer friendships
Autism DSM III-R 1987
B. Qualitative impairment in verbal and nonverbal communication
No mode of communication
Babbling, facial expression, gesture, mime, spoken language
Abnormal nonverbal communication
Eye-to-eye, facial expression, body posture, gestures to initiate or modulate
social interaction
Absence of imaginative activity
Abnormal speech
Volume, pitch, stress, rate, rhythm, intonation
Autism DSM III-R 1987
B. Qualitative impairment in verbal and nonverbal communication
Abnormal form or content of speech
Stereotyped and repetitive
•
Echolalia
•
“you” for “I”
•
Idiosyncratic use of words or phrases
•
Irrelevant
Impairment in ability to initiate and sustain a conversation
Autism DSM III-R 1987
C. Restricted repertoire of activities and interests
Stereotyped body movements
Persistent preoccupation with parts of objects
Distress of changes in trivial aspects of environment
Unreasonable insistence on routines in precise detail
Markedly restricted range of interests; preoccupation with
one narrow interest
Autism DSM IV 1994, DSM IV-R 2000
1. Qualitative impairment in social interaction
Multiple nonverbal behaviors

Eye-to-eye gaze

Facial expression

Body postures

Gestures to regulate social interaction
Failure to develop peer relationships
Lack of spontaneous seeking to share enjoyment,
interests, or achievements
Lack of social reciprocity
Autism DSM IV 1994, DSM IV-R 2000
2. Qualitative impairment in communication
Delay/lack of spoken language
Impaired ability to initiate or sustain conversational
Stereotyped and repetitive use of language
Lack of varied response to make-believe or imitative
play
Autism DSM IV 1994, DSM IV-R 2000
3. Restricted, repetitive, and stereotyped pattens
of behavior, interests, and activities
Abnormal in intensity or focus
Inflexible adherence to specific nonfunctional routines
or rituals
Stereotyped and repetitive motor mannerisms
Hand flapping
Complex whole body movements
Persistent preoccupation with parts of objects
Autism DSM IV 1994, DSM IV-R 2000
Delays or abnormal function before age 3 yr in at least one of
Social interaction
Language in social communication
Symbolic or imaginative play
The disturbance is not better accounted for by Rett's disorder or
childhood integrative disorder
Autism DSM IV 1994, DSM IV-R 2000
Criteria for diagnosis

Six or more items from 1, 2, and 3
•
•
•
Social – at least 2 criteria met
Communication – at least 1 criterion met
Stereotyped behavior – at least 1 criterion
met
Delays or abnormal function before age 3 yr in at
least one of
Social interaction
Language in social communication
Symbolic or imaginative play
Autism DSM IV 1994, DSM IV-R 2000
Criteria for diagnosis
The disturbance is not better accounted
for by Rett's disorder or childhood
integrative disorder
Asperger's Disorder DSM IV-R
1. Qualitative impairment in social
interaction
Multiple nonverbal behaviors
Eye-to-eye gaze
Facial expression
Body postures
Gestures to regulate social interaction
Failure to develop peer relationships
Lack of spontaneous seeking to share enjoyment, interests, or
achievements
Lack of social reciprocity
Asperger's Disorder DSM IV-R
2. Restricted, repetitive, and stereotyped pattens
of behavior, interests, and activities
Abnormal in intensity or focus
Inflexible adherence to specific nonfunctional routines or
rituals
Stereotyped and repetitive motor mannerisms
Hand flapping
Complex whole body movements
Persistent preoccupation with parts of objects
Start of the epidemic
Prevalence
• 1 in 80 and 1 in 240 with an average of 1 in 110
children in the United States have an ASD.
• Occur in all racial, ethnic, and socioeconomic groups,
yet are on average
• 4 to 5 times more likely to occur in boys than in girls.
• If 4 million children are born in the United States
every year, approximately 36,500 children will
eventually be diagnosed with an ASD.
Prevalence
• About 730,000 individuals between the ages of 0 to 21
have an ASD.
• Studies in Asia, Europe, and North America have identified
individuals with an ASD with an approximate prevalence
of 0.6% to over 1%.
• A recent study in South Korea reported a prevalence of
2.6%.
• Approximately 13% of children have a developmental
disability, ranging from mild disabilities such as speech
and language impairments to serious developmental
disabilities, such as intellectual disabilities, cerebral palsy,
and autism.
Asperger's Syndrome
•
Persons with the syndrome are often
workaholics, highly persistent, content
with their own company and solitary
artistic occupations; they focus on detail
with massive curiosity and total
immersion; they are novelty-seekers in
terms of their art, with massive
imagination in their specialised spheres.
They are also far less influenced by
previous or contemporary artists in their
work than are ‘neurotypicals’. It appears
that the autistic artist, because of his or
her rather diffuse identity and diffuse
psychological boundaries, has the
capacity to do what the artist George
Bruce described as being necessary for
art: ‘One must not just depict the objects,
one must penetrate them, and one must
oneself become the object’.”
Michael Fitzgerald, Henry Marsh
Professor of Child and Adolescent
Psychiatry, Trinity College Dublin in “The
Genesis of Artistic Creativity: Asperger’s
Syndrome and the Arts”
Risk Factors and Characteristics
• Among identical twins, if one child has an ASD, then
the other will be affected about 60-96% of the time.
• In non-identical twins, if one child has an ASD, then
the other is affected about 0-24% of the time.
• Parents who have a child with an ASD have a 2%–8%
chance of having a second child who is also affected.
Risk Factors and Characteristics
• About 10% of children with an ASD have an
identifiable genetic, neurologic or metabolic disorder,
such as fragile X or Down syndrome.
• 30-51% (41% on average) of the children who had an
ASD also had an Intellectual Disability (intelligence
quotient <=70).
Genetics
• Studies show that 5% of people
with an ASD are affected by
fragile X and 10% to 15% of
those with fragile X show
autistic traits.
• One to four percent of people
with ASD also have tuberous
sclerosis.
• About 40% of children with an
ASD do not talk at all. Another
25%–30% of children with
autism have some words at 12 to
18 months of age and then lose
them. Others may speak, but not
until later in childhood
Epidemiology
• The ADDM Network is a group of programs funded by CDC to
determine the number of people with ASDs in the United States.
• ADDM sites all collect data using the same surveillance
methods, which are modeled after CDC’s Metropolitan Atlanta
Developmental Disabilities Surveillance Program (MADDSP).
• The average ASD prevalence was 8 per 1,000 8-year-olds in
2004 and 9 per 1,000 8-year-olds in 2006 in several areas of the
United States
• 1 in 110 children.
Epidemiology
• Metropolitan Atlanta Developmental Disabilities Surveillance
Program (MADDSP)
• MADDSP was established to determine all children who have
one or more of four developmental disabilities -- mental
retardation, cerebral palsy, hearing loss, and vision impairment - in the metropolitan Atlanta area.
• Autism spectrum disorder was added as a fifth disability
beginning in the 1996 study year.
• The ASD prevalence was 10.2 per 1,000 8-year-olds in the 2006
surveillance year.
Epidemiology
• CDC conducts two nationally representative surveys that
provide data on health conditions in U.S. children: the National
Survey of Children’s Health (NSCH) and the National Health
Interview Survey (NHIS).
• Estimates of diagnosed autism in 2003-2004 were 5.7 per 1,000
school-age children from the National Health Interview Survey
and 5.5 per 1,000 school-age children from the National Survey
of Children's Health.
• Both surveys showed that boys were nearly four times more
likely than girls to have been diagnosed with autism.
•
National Survey of Children’s Health, 2009: approximately
1% of children are affected with an ASD.
Epidemiology
• Early ASD Surveillance Development Project
• CDC is funding two sites—the California Department
of Health Services and Florida State University—to
develop and test projects to identify the number of
children under 4 years of age with ASDs.
Epidemiology
• In late 1997, a citizen’s group in Brick Township, New
Jersey, told the state Department of Health and Senior
Services (DHSS) about what seemed to be a largerthan-expected number of children with autism in Brick
Township.
• The prevalence of ASDs was 6.7 per 1000 children.
The prevalence of ASDs in Brick Township seems to
be higher than that in other studies, particularly studies
conducted in the United States, but within the range of
a few recent studies in smaller populations that used
more thorough case-finding methods.
What Cause Autism?
Nobody knows
Hypotheses include
obstetric complications,
infection, genetics, and
toxic exposures
MMR Vaccine and Autism
“The evidence favors a rejection of a
causal relationship at the population
level between MMR vaccine and autism
spectrum disorders (ASD).”
- Institute of Medicine, April 2001
Diagnosis
• A comprehensive evaluation
– Psychologist, neurologist, psychiatrist, speech
therapist, and other professionals who diagnose
children with ASDs.
– Thorough neurological assessment and in-depth
cognitive and language testing.
– Children with delayed speech development should
also have their hearing tested.
– Screening tools:
MCHAT
Treatment
Behavior therapy
Communication therapy
Medical therapy
Dietary therapy
Complementary therapy
Educational support
Getting better all the time....
• From the 1960s through the 1970s, research into treatments
for autism focused on medications such as LSD, electric
shock, and behavior change techniques. The latter relied on
pain and punishment.
• During the 1980s and 1990s, the role of behavior therapy
and the use of highly controlled learning environments
emerged as the primary treatments for many forms of
autism and related conditions.
Behavior and Communication
Therapy
• The primary treatment for autism addresses several key
areas.
– Behavior, communication, sensory integration, and
social skill development.
– Requires close coordination between parents, teachers,
special education professionals, and mental health
professionals.
– Therapists use highly structured and intensive skilloriented training sessions to help children develop
social and language skills, such as Applied Behavioral
Analysis (ABA)
Medical and Dietary Therapies
Goal of medication is to make it easier for the person with autism to
participate in activities such as learning and behavior therapy.
– Anxiety, depression
– Attention problems, hyperactivity, and impulsivity
•Some evidence that people with autism may have certain deficiencies in
vitamins and minerals.
– Vitamin B and magnesium
•Food allergies may make behavior problems worse
Complementary Therapies
• Help increase learning and communications
skills in some people with autism.
• Music, art, or animal therapy, such as
horseback riding or swimming with
dolphins.
Prognosis
• Highly correlated with IQ.
• Low-functioning patients may
never live independently
• High-functioning individuals with
autistic disorder are similar to
people with Asperger syndrome.
• Remission is reported in anecdotal
case reports.
Prognosis
• Because deficits in language and communication are often
major impediments to progress in educational, work, and
personal settings, specialized communication therapies and
devices and training are often helpful.
• People with developmental disabilities are vulnerable to
sexual abuse. The most severely disabled are at highest risk
for sexual abuse.
• Children with Asperger syndrome must be trained to
recognize impending sexual abuse and to develop plans of
action to abort possible sexual abuse.
Outcome
• For many children, symptoms improve with treatment and
with age
• Children whose language skills regress early in life—
before the age of 3—appear to have a higher than normal
risk of developing epilepsy or seizure-like brain activity.
• During adolescence, some may become depressed or
experience behavioral problems
• People with an ASD usually continue to need services and
supports as they get older, but many are able to work
successfully and live independently or within a supportive
environment.
The End