Download Young Children with Autism Spectrum Disorder

Young Children with Autism
Spectrum Disorder
WHAT TO LOOK FOR
ERIC TRIDAS, MD, FAAP
Disclosures
 Dr. Tridas is a speaker for:
 Eli Lilly
 Pfizer
 Dr. Tridas is a consultant for:
 Eli Lilly
 Pfizer
 Dr. Tridas has done research for:
 Eli Lilly
AAP 2006 Recommendations
 AAP recommends developmental surveillance be
performed at every preventative visit (family history)
 A screening tool be used at 9,18, 30 month visit(24
mo can substitute for 30 mo)
 If screen is positive, refer to medical specialist and
Early Steps or Child Find
Pediatrics, July 2006 and reaffirmed 2009
AAP Recommendations
 AAP recommends a specific autism screening tool at
the 18 month visit and then again at the 24 month
visit (to pick up those who might have regressed)
Pediatrics, July 2006 and reaffirmed 2009 - 2nd edition of autism tool kit released 2012
Why Screen?
Federal Law
 Individuals with Disabilities Education Act (IDEA)
amended in 1997 & 2004
 Mandates early identification and intervention for
developmental disabilities
Developmental Disabilities
 17% of children have a developmental disability
 2% have a severe disability
 At risk population is growing
Autism Prevalence
Why Screen?
 30-40%parents volunteer concern without
prompting (Glascoe, Pediatrics,1995)
 Low identification rate by clinical judgment

<30%(Palfrey, 87)
 Pediatricians are well trained to identify delays in
certain areas, but not others.
Parental Concern About Development
 1/3 of parents of children with an ASD noticed a
problem before their child’s first birthday, and 80%
saw problems by 24 months.
 3 ½ years: Average age of diagnosis of ASD
 5 ½ years: Average age of diagnosis of ASD for
children from a minority background
Why Screen?
 Early intervention make a difference
 University of Washington 18-30 months study using Early
Start Denver Model vs. community care
IQ points, 18 vs. 4
 Receptive language 18 vs. 10 and socialization

Geraldine Dawson, et. al. Pediatrics Vol. 125 No, 1 January 1, 2010 pp. e17-e23
ASD Siblings
 Outcomes at age 3
 61% Unaffected
 19% ASD diagnosis
 20% Higher symptom severity and or lower cognitive scores
than low-risk controls
Geraldine Dawson, et. al. Pediatrics Vol. 125 No, 1 January 1, 2010 pp. e17-e23
Autistic Disorders
DEFINITION
Autism: A Spectrum Disorder
 Symptoms present in a wide variety of combinations.
 Any combination of the behaviors
 Any degree of severity
ASA Definition
 Autism is a complex developmental disability that
typically appears during the first three years of life
and affects a person’s ability to communicate and
interact with others. Autism is defined by a certain
set of behaviors and is a "spectrum disorder" that
affects individuals differently and to varying degrees.
There is no known single cause for autism, but
increased awareness and funding can help families
today
PDD - DSM IV Criteria
 Behaviorally defined neurological disorder
 Severely incapacitating
 Life-long
 Appears during the first 3 years of life
 Areas of impact
 Qualitative impairment in social interaction
 Qualitative impairment in communication
 Restricted repetitive and stereotyped patterns of behavior,
interests and activities
Autism Spectrum Disorder – DSM 5
A. Persistent deficits in social communication and
B.
C.
D.
E.
social interaction across multiple contexts
Restricted, repetitive patterns of behavior,
interests, or activities
Symptoms must be present in the early
developmental period (first 3 years of life)
Symptoms cause clinically significant impairment
in social, occupational or other areas of functioning
These disturbances are not better explained by an
intellectual disability
Deficits in Social Communication/Interaction
1. Deficits in social-emotional reciprocity
 Abnormal social approach and failure of normal back-andforth conversation
 Reduced sharing interests, emotions or affect
 Failure to initiate or respond to social interactions
Deficits in Social Communication/Interaction
2. Deficits in nonverbal communicative behaviors used
for social interaction
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Poorly integrated verbal and nonverbal communication
Abnormalities in eye contact and body language or deficits in
understanding gestures
Total lack of facial expression and nonverbal communication
Deficits in Social Communication/Interaction
3. Deficit in developing, maintaining and
understanding relationships
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Difficulty adjusting behavior to suit various social contexts
Difficulties in sharing imaginative play or making friends
Absence of interest in peers
Joint Attention: Definition
 Ability to coordinate attention between an
interesting object or event and another person in
social context

Use of eye contact and pointing for the purpose of sharing
experiences with others
9 months: will look when others point or say “look”
 12 months: will get others attention by pointing, looking and/or
verbalizing (protoimperative pointing)
 Will bring toys to show to adults

Joint Attention: Milestones
 10 mos – follows a point
 12 mos – points to request
 14 mos – points to comment
Theory of Mind
 Ability to attribute or infer the full range of mental
states to oneself and others

Beliefs, desires, intentions, imagination, emotions, etc.
 To be able to reflect on the contents of one’s own and
other’s minds
Restricted-Repetitive Patterns of Behavior
1. Stereotyped or repetitive motor movements, use of
objects or speech
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Lining up toys
Flipping objects
Echolalia
Idiosyncratic phrases
Simple motor stereotypies
Restricted-Repetitive Patterns of Behavior
2. Insistence on sameness, inflexible adherence to
routines, or ritualized patterns of verbal or
nonverbal behaviors
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Extreme distress at small changes
Difficulties with transitions
Rigid thinking patterns
Greeting rituals
Same food or same route daily.
Restricted-Repetitive Patterns of Behavior
3. Highly restricted, fixated interests that are
abnormal in intensity or focus
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Strong attachment to or preoccupation with unusual objects
Excessively circumscribed or perseverative interests
Restricted-Repetitive Patterns of Behavior
4. Hyper or hyporeactivity to sensory input or
unusual interest in sensory aspects of the
environment
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Apparent indifference to pain/temperature
Adverse response to specific sounds or textures
Excessive smelling or touching of objects
Visual fascination with light or movement
Changes in DSM – 5
 Delete the term “Pervasive Developmental
Disorders”

Symptoms are not pervasive – they are specific S
Social-communication
 Restricted, repetitive behaviors/fixated interests



Overuse of PDD-NOS leads to diagnostic confusion and
overdiagnosis
Overlap of PDD-NOS and Asperger disorder
 Recommend new diagnostic category: “Autism
Spectrum Disorder”
Walter E. Kaufmann, M.D. , Boston Children’s Hospital, Harvard Medical School (2012)
Changes in DSM – 5
 Deletion of Rett Syndrome as a specific ASD
 Rett will be removed as a separate disorder
ASD are defined by behaviors, not etiologies.
 Patients with Rett Syndrome who have autistic symptoms can still
be described as having ASD “with known genetic or medical
condition” to indicate symptoms are related to Rett.

 Deletion of Childhood Disintegrative Disorder
 Developmental regression in ASD is variable


Timing and nature of the loss of skills
Rarity of CDD diagnosis makes systematic evaluation difficult
Walter E. Kaufmann, M.D. , Boston Children’s Hospital, Harvard Medical School (2012)
Changes in DSM – 5
 Elimination of Asperger Disorder
 There is little difference from autism
 DSM-IV criteria do not match the cases described by Asperger
 No clinical or research evidence for separation of Asperger
disorder from autism (High functioning autism = Asperger dx)
 Diagnostic biases apparent,
High SES, Caucasian males = Asperger dx,
 Low SES, non-Caucasian populations = PDD-NOS diagnosis1

SiteE.differences
CDC
surveillance
data
Walter
Kaufmann, in
M.D.
, Boston
Children’s
Hospital, Harvard Medical School (2012)
1
Changes in DSM – 5
 Merging of ASDs into a Single Diagnosis
 Autism Spectrum Disorders
Autism
 Asperger
 PDD NOS

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A single spectrum better reflects the symptom presentation,
time-course and response to treatment
Separation of ASD from typical development is reliable &
valid; separation of disorders within the spectrum is not
Many states provide services only for dx of autism, not PDDNOS or Asperger disorder
Walter E. Kaufmann, M.D. , Boston Children’s Hospital, Harvard Medical School (2012)
Changes in DSM – 5
 Single Spectrum but Significant Individual
Variability
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Severity of ASD symptoms
Pattern of onset and clinical course
Etiologic factors
Cognitive abilities (IQ)
Associated conditions
Walter E. Kaufmann, M.D. , Boston Children’s Hospital, Harvard Medical School (2012)
Early signs of ASD
Parent’s Concerns
 18 mo/o: Parental awareness
 24 mo/o: Seeking professional help
 50% were told not to worry by primary care MD
 4 years: Interval of time from initial awareness and
definitive diagnosis
 Early parental concern should lead to further
investigations
Early Signs of ASD
 Aberrant social skill development is the hallmark
of autism
Poor eye contact – aloofness
 Failure to orient to name
 Failure to use gestures to point or show
 Lack of interactive play
 Lack of interest in peers

 Combined language and social skills delays
 Regression in language or social milestones
Red Flags: Communication
 No babbling by 12 months
 No pointing by 12 months
 No single words by 16 months
 No 2-word spontaneous phrases by 24 months
 Speaks with abnormal rhythm or tone
 Can’t start a conversation or keep it going
 May repeat certain words or phrases but doesn’t
use them appropriately
 Loses ability to say words
Red Flags: Social Skills
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No smiling by 6 months
No imitation facial expressions by 9 months
Fails to respond to own name at 12 months
Has poor eye contact
Appears not to hear you
Resists cuddling and holding
Lack of showing
Appears unaware of other’s feelings
Seems to prefer to play alone
Retreats into “own” world
Red Flags: Behavior
 Performs repetitive movements: rocking, spinning,
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hand flapping
Develops specific routines or rituals
Becomes disturbed with slight changes in routines or
rituals
Moves constantly
Fascinated with parts of objects
May be unusually sensitive to light, noise, or
touching
Diagnosis of ASD
AAP Toolkit
Detection of ASD
 Level One
 Routine developmental surveillance (pediatrics, childcare,
community providers)
 Level Two
 Screening for ASD (ASD specific tools)
 Lead screening; hearing
 Level Three
 Formal evaluation and diagnosis of ASD
Clinical: Developmental/behavioral pediatrician, psychiatrist,
neurologist, psychologist
 IDEA (Part B and Part C)

A Mieres, K Armstrong - University of South Florida
Screening process
 Well-child checkup
 Developmental milestones at 9, 18, 24, 30 months (AAP
Guidelines, 2008)
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Developmental surveillance tools, e.g. Ages and Stages; PEDI
Hearing screening (birth; as needed)
ASD specific tool at 18, 24 months

MCHAT
A Mieres, K Armstrong - University of South Florida
Screeners Specific to ASD
 ASD Specific Screeners
 Checklist for Autism in Toddlers (CHAT)
 Modified Checklist for Autism in Toddlers
(M-CHAT)
 Social Communication Questionnaire (SCQ)
 Childhood Asperger’s Syndrome Test (CAST)
A Mieres, K Armstrong - University of South Florida
Steps in Diagnosis
 Surveillance
 The art of listening during well child checkup
 Screening
 Even if there is no parental concern
 General development
 Autism specific
 Formal Evaluation
Surveillance
LEVEL 1
Surveillance Probes
 6 months
 Head Circumference (large)
 Social smile
 Siblings of autistic child
 9 months
 Head circumference
 Reciprocal babbling
 Looks at parent when they speak
 AAP general developmental screening
Surveillance Probes
 12 months
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Head circumference
Follows when adult points
Responds to name
Waves “bye-bye”
Unusual Vocalizations
Inappropriate laughter
 15 months
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Head Circumference
Initiating pointing
Showing an interesting object
Word count
Play/favorite toys
Surveillance Probes
 18 months
 Head circumference
 Hx. of regression
 Universal ASD Screening
 Pointing to show
 Word count, two word phrases, echolalia
 Pretend play
 24 months
 Universal ASD Screening (to detect regression after 18
months)
 Regression
 Language screening, echolalia, pop-up words
Screening
LEVEL 2
M-CHAT
Does your child enjoy being swung, bounced on your knee, etc.?
2. Does your child take an interest in other children?
3. Does your child like climbing on things, such as up stairs?
4. Does your child enjoy playing peek-a-boo/hide-and-seek?
5. Does your child ever pretend, for example, to talk on the phone or take care
of dolls, or pretend other things?
6. Does your child ever use his/her index finger to point, to ask for
something?
7.
Does your child ever use his/her index finger to point, to indicate interest in
something?
8. Can your child play properly with small toys (e.g. cars or bricks) without
just mouthing, fiddling, or dropping them?
9. Does your child ever bring objects over to you (parent) to show you
something?
10. Does your child look you in the eye for more than a second or two?
1.
©1999 Diana Robins, Deborah Fein, & Marianne Barton
M-CHAT
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Does your child ever seem oversensitive to noise? (e.g., plugging ears)
Does your child smile in response to your face or your smile?
Does your child imitate you? (e.g., you make a face-will your child imitate it?)
Does your child respond to his/her name when you call?
If you point at a toy across the room, does your child look at it?
Does your child walk?
Does your child look at things you are looking at?
Does your child make unusual finger movements near his/her face?
Does your child try to attract your attention to his/her own activity?
Have you ever wondered if your child is deaf?
Does your child understand what people say?
Does your child sometimes stare at nothing or wander with no purpose?
Does your child look at your face to check your reaction when faced with
something unfamiliar?
©1999 Diana Robins, Deborah Fein, & Marianne Barton
Diagnostic Evaluation Level 3
The Developmental Web
Developmental
Profile
Educational &
Developmental
IMPAIRMENT
Behavioral
Profile
Health
Environment
Academic–Occupational
Social Interaction
Health
Behavioral &
Cognitive
Medical
Environmental
Components of ASD Diagnosis
 Hearing evaluation
 Developmental assessment
 Levels of performance in developmental domains
 ASD specific tools
 Developmental history
 Address core features of ASD
 Health history
 Speech and language
 Form, content, and pragmatics
Specialized ASD Tools
 Caregiver report and observational measures
 Autism Diagnostic Observation Schedule (ADOS)
 Autism Diagnostic Interview (ADI)
 Child Behavior Checklist (CBCL)
 Child Autism Rating Scale (CARS)
 Gilliam Autism Rating Scale (GARS-2)
 Caveat: Tools may not be useful for children under
age 3 or children with no language
Domains of Development
 Motor Domain
 Daily Living
 Communication Domain
 Socialization
Motor Control Progression
Movement Patterns Progression
Anteroposterior
Lateral
Rotational
Language
Communication
Articulation
Voice
Fluency
Language
Phonology
Morphology
Syntax
Discourse
Semantic
Pragmatic
Metalinguisti
c
Speech
Language Milestones
 MUST REFER if these milestones are not reached
 1 year – 1 word
 2 years – 200 words – 2 word phrases
 3 years – 300 words – 3 word phrases
Medical Work-up
 Audiologic & Speech/Language Evaluations
 Dysmorphisms
 DNA studies for Fragile X Syndrome
 High resolution karyotype
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Angelman, Prader Willi and VCF Syndromes
Chromosomal microarrays
 Regression and/or focal neurological signs
 EEG (Landau Kleffner Syndrome)
 Organic and Aminoacid screen
 MRI
Causes of ASD
 No single, identifiable cause
 Seems to be related to abnormalities in several
areas of brain
 Environmental factors, e.g. viruses may trigger
symptoms
 Structural (anatomic, cellular)
 Genetic component
Identical twins 60%
 Siblings 10%
 Other family members 2%

Management of ASD
Developmental Web
MANAGEMENT
The Developmental Web
Developmental
Profile
Educational &
Developmental
IMPAIRMENT
Behavioral
Profile
Health
Environment
Academic–Occupational
Social – Emotional
Health
Behavioral &
Cognitive
Medical
Environmental
Educational Management
Educational Therapy
Speech/Language Therapy
Occupational Therapy
Physical Therapy
REMEDIATION
Weakness
CIRCUMVENTION
Strengths
Volume
Rate
Technology
Psychological Management
ADULT FOCUSED
Behavioral Therapy
CHILD FOCUSED
Cognitive Therapy
Medical Management
MEDICATION
SURGERY
Environmental Management
HOME
SCHOOL
Evidence-base for ASD Interventions
 Interventions work best for:
 Higher functioning children
 Children with less severe behavioral symptoms
 Children who begin intervention early (<60 months)
 25 hours per week of active engagement
 Intervention across natural settings
 Multiple methods used
Goals of Management
 Maximize potential and minimize complications
 Parental support
 Improve affected developmental functions
 Decrease the behavioral symptoms
 Genetic counseling
No single therapeutic intervention can achieve all
goals of management
Educational Interventions
Educational Program Requirements
 Early Diagnosis
 Early Intervention
 Highly structured
 Skill oriented
 Problem Behavior
 Skill Deficits
 Address specific needs
 Individual Motivational
System
 Data based program
 Environment
 Structured
 Organized
 Distraction Free
 Consistency =
Generalization
 Full day / Year round
 Multiple settings
 Coordinate with home
program
Preschool Interventions in ASD
 Curriculum stresses
 Paying attention to others
 Imitating others
 Verbal and non verbal communication
 Ability to play and socially interact
 Predictable and routine
 Functional approach to problem behaviors
 Strategy for transition into regular Kindergarten
 Family involvement
Preschool interventions in ASD
 Speech and language therapy
 Semantic and pragmatic skills training
 Positive social relationships including typically
developing role models/playmates
School Interventions
 Curricula
 TEACH – most influential
 Bright Star
 Higashi
 Alternative Communication
 PECS
 American Sign Language
Behavioral Interventions
Common Behavioral Interventions
 Applied Behavior Analysis
 ABA leads to IBI
 Lovaas
Applied Behavioral Analysis
 Analysis of :
 Antecedent
 Behavior
 Consequences
 Leads to the development of a specific - intense
behavior intervention program
Habilitative Therapies
 Speech and Language
 Most important
 Occupational Therapy
 Sensory Integration
 Coordination Problems
 Physical Therapy
Medical Management
ERIC TRIDAS, MD
Indications for Medical Intervention
 Severe symptoms of:
 Sleep disturbance
 Self injurious behavior
 Agitation and/or aggression
 Hyperactivity
 Inattention
 Stereotypes and perseveration
 Withdrawal
 Anxiety
Controversial Therapies
What To Look For
 If it sounds too good, it probably is
 Beware of the word NATURAL
 It is simply marketing
 Hemlock, arsenic, tobacco, marijuana are all natural
 Difference between safe and dangerous
 Dose
 Route of administration
 Speed of administration
Evidenced Based
 Formulate a theory
 Design an experiment with control subjects
 Analyze the data
 Publish results
 Replicate findings
 Then it becomes the standard of care
Questions?