Autism Spectrum Disorders
Judith A. Axelrod, M.D.
Developmental-Behavioral Pediatrician
Square One Specialists in Child and Adolescent
Development
Professor of Pediatrics
University of Louisville School of Medicine
Disclosures
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A. “I have no relevant financial relationships with
the manufacturers of any commercial products
and/or provider of commercial services discussed
in this CME activity.”
B. “I do not intend to discuss an
unapproved/investigative use of a commercial
product/device in my presentation.”
Autism Spectrum Disorder
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Described in 1943 by Dr. Leo Kanner
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Study of 11 children
Early infantile autism
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Characterized by social differences
Dr. Hans Asperger
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Described milder form of disorder
Asperger syndrome
Autism Spectrum Disorder/
Pervasive Developmental Disorders
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DSM-IV-TR (APA, 2000)
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5 disorders under the PDD umbrella
Qualitative impairments of communication
Qualitative impairments of social skills
Restricted, repetitive, and stereotyped
patterns of behavior, interests, and
activities
PDD Umbrella
Autism
Childhood
Disintegrative
Asperger’s
N.O.S.
Rett’s
Autism Spectrum Disorders
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Autism (50-60%)
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Social communication skills<cognitive skills
PDD-NOS
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Asperger Syndrome
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Social interaction deficits and restricted interests
Child Disintegrative Disorder
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Sub-threshold Autism
Normal development for first 2 years of life
Rett Syndrome
Social Communication Disorders
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Autism
Asperger’s Disorder
Pervasive Developmental Disorder, NOS
Development of social
communication
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Within the first and second year of life
children develop:
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Sense of self
Capacity to judge form evidence
Ability to integrate ideas from past
experience
Ability to appreciate psychological state of
another person
Social communication
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Teasing
Helping
Comforting
Development of social
communication
During the first and second year of life
children
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Show interest in other people
Show curiosity about feelings and thoughts
Pretend
Make believe play
Social Communication requires:
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Joint attention
Effective reciprocity or emotional sharing
The ability to realize that another person
has thoughts and ideas similar to you
Theory of Mind
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Understanding the desires of another
Understanding the emotional state of
another person
Having the ability to figure out what a
person’s intentions are
Knowledge that what you are thinking can
be conveyed to others through nonverbal
means
Case study
Joseph is a 2 ½ year old male who lives “in
his own world”. During his first year of life
he was playful and interactive. He spoke
single words at 8 months. At 15 months he
had a 9-15 word vocabulary. At 18 months
an insidious regression of his language and
communication skills began. By 2 years,
Joseph spoke 4 words; he did not give eye
contact. He did not share his joys.
Autism Spectrum Disorder
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Neurobiological disorder
Inconsistency of development
Expression of symptoms varies with age
and developmental level of person
Autism
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Universally considered a neurobiological
disorder
No specific etiology
Likely complex etiology
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Genetics
Environmental factors
Associated conditions
Genetic Aspects
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5% recurrence risk
Concordance in 90% monozygotic twins
Concordance in <10% dizygotic twins
Mild associations with genetic syndromes
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Fragile X syndrome (3%)
Tuberous Sclerosis (2-5%)
Associated with Autism perhaps
by chance
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Neurofibromatosis
Cornelia de Lange Syndrome
Angelman Syndrome
Down Syndrome
Intrauterine exposure to:
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Rubella
CMV
Varicella
Autism Facts
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Common (1:160)
More common in
boys
Occurs across all
populations
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Cause is not known
Considered a
spectrum disorder
Associated medical conditions
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Mental retardation
Seizures
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Two phases of presentation
Early childhood
 Late adolescence
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Linked to evidence of brain
dysfunction/damage
Autism through the lifespan
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Infants and toddlers
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Easy going “too good” baby
Baby with sensory processing abnormalities
Difficulty regulating behavior
 Overexcited, fussy, crying inconsolably
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Infants and Toddlers
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Poor imitation
Abnormality in eye contact
Under responsive to people
Bland facial expressions with less smiling
High tolerance to pain, cold, or heat
Hypersensitive to taste, touch
Early Indicators
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Lack of pretend play
No point to express interest
Poor joint attention
Inefficient use of eye gaze
Communication deficits
Poor response to name
Other Indicators
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Speech delay
Acts as if cannot hear well/ignores
In own world
Abrupt decline in use of words 18-24 mos.
Repetitive play
Unusual play/TV preferences
Early Childhood
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Typically most obvious signs and
symptoms of Autism
Ages 4-5 years standard age in determining
severity of Autism
Repetitive and stereotypic behaviors
emerge and peek at 5-7 years
Special interests and sameness emerge
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Obsessions and compulsions
Common Features
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Repeated body movements/stereotypies
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Hand flapping, pacing, unusual inspection,
opening and shutting doors, staring at lights
Attachments to objects
Resistance to change
Difficulties with transitions
Aggression
Self injurious behaviors (rare)
Common Features, continued
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Sensory issues
Difficulty with generalization
Overselectivity
Splinter skills
Middle Childhood
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Subtypes emerge
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Aloof
Passive
Active but odd
Stereotypies diminish
Divergence of population with language
acquisition and developing cognitive skills
Associated findings
Clumsiness
 Dyspraxia
 Sensory processing difficulties
 Hypotonia
 Joint laxity
 Toe walking
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Adolescents
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Continued difficulty with social and
pragmatic language
Some seek to develop social skills
Refinement of special interests
Increased anxiety, some have deterioration
but regain later
Adults
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Vastly differing outcomes
1/3 able to care for self, achieve some
independence, have some friends, live
independently or with support, work
Nearly 70% have fair to good language
Marriage is rare
Adults continued
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About 45% have poor outcome
Dependent on family or living in
residential setting
Major seizures, behavioral problems,
continued dependency
Increased rates of depression and anxiety
PDD Umbrella
Autism
Childhood
Disintegrative
Asperger’s
N.O.S.
Rett’s
Asperger syndrome continued
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No apparent cognitive impairment
No apparent receptive or expressive
language impairment
Asperger Syndrome
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Impairment in social interaction
Restricted, repetitive, and stereotyped
patterns of behavior
Ian is a 12 yr old who is described as a bright,
witty, intelligent youngster who talks constantly. He
is curious and persistent. He is anxious,
argumentative and has trouble with transitions. Ian
has a history of repetitive behaviors described as facial
grimacing, finger rituals. He has unusual speech
patterns. Adults are more tolerant of him than same
aged peers. He has few friends. Parents report
that Ian is an only child because life is very difficult
with him and he requires much time and effort. Ian
has Asperger Disorder.
Asperger Syndrome
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Normal language development
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No delay in receptive and expressive
language milestones
Language skills are defined as normal
especially in early life
No delay in cognition or adaptive
behaviors in early life
Asperger Syndrome
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Qualitative impairments in social
interaction
1. Impaired nonverbal behavior
 Poor
eye gaze
 Poor use of facial expression
 Poor use of gestures to regulate interaction
Asperger Syndrome
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Qualitative impairments in social
interaction
2.
Impaired social communication
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Rigid
Excessive or tedious
Pedantic
Narrow range of interests
Nonverbal Learning Disorders
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Some experts believe that NLD and
Asperger Syndrome are one and the same
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Clinical presentation is similar with
Asperger Syndrome
NLD Characteristics
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Composed of a constellation of skill
deficits that impact all aspects of living.
Poor nonverbal problem solving
Significant discrepancy between verbal and
nonverbal cognitive abilities
Much lower nonverbal than verbal
NLD continued
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Difficulty correctly processing and
attending to tactile and visual modalities.
Psychomotor coordination difficulties or
physical awkwardness.
Specific weaknesses in social perception
and social judgment.
Significant problems in adapting to new or
complex situations.
NLD Risks
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Social withdrawal and social isolation which may
worsen as they get older.
Predisposed to have internalizing psychological
disorders such as depression and anxiety.
Often diagnosed (misdiagnosed?) with ADHD
due to poor organizational skills, poor planning
and impulse control difficulties.
Perceptual difficulties of NLD can interfere with
reading, math, spelling.
PDD Umbrella
Autism
Childhood
Disintegrative
Asperger’s
N.O.S.
Rett’s
PDD:NOS/Atypical Autism
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Criteria not met for another ASD/PDD
Impairments in social interaction WITH
Impairments in verbal and nonverbal
interactions
OR stereotyped behaviors, interests or
activities
Autism Spectrum Disorders:
Associated problems
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Attention problems
Impulse control difficulties
Sleep problems
Obsessive compulsive behaviors
Self-injurious behaviors
Tics
Depression
Anxiety
PDD Umbrella
Autism
Childhood
Disintegrative
Asperger’s
N.O.S.
Rett’s
Childhood Disintegrative Disorder
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Normal development 1st 2 years
Significant loss of skills (before 10 years)
in at least 2 areas:
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Expressive or receptive language
Social skills or adaptive behavior
Bowel or bladder control
Play
Motor skills
Childhood Disintegrative con’t
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Abnormalities of functioning in at least 2
of the following areas:
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Qualitative impairment in social interaction
Qualitative impairments in communication
Restricted, repetitive, and stereotyped
patterns of behavior, interests, and activities
Level One Assessment
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A screening
Developmental surveillance by providers
performed at every well child visit
A starting level evaluation for children
referred for developmenal difficulties
Level One, continued
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Use broad-band screening questionnaires
Listen to parental concerns about child’s
development
Ask specific developmental probes
regarding speech-language, social, and
behavioral development
Examples of Parent Concerns
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Acts as if cannot hear well
Not talking like should
Acts as if in his own world
A loner
Does same play over and over
Odd interests
Absolute Indicators
for Level Two Evaluation
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No babbling by 12 months
No gesturing by 12 months
No single words by 16 months
No 2-word spontaneous phrases by 24
months
Any loss of any language or social skills at
any age
Level Two Evaluation
Diagnosis and Assessment of Autism
Diagnostic Toolbox
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Input from team
Input from parents
Input from school
Direct observation
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Cognitive measures
Adaptive measures
Diagnostic measures
Clinical judgment
Cognitive Measures
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No cognitive pattern confirms or excludes
a diagnosis of Autism (but may help in
differentiation of Asperger Syndrome or
Nonverbal Learning Disorder).
Essential for educational planning
Provides a full range of standard scores
(floor)
Adaptive Measures
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Essential in the diagnosis of mental
retardation
Provides information regarding social and
communication functioning
Example:
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Vineland Adaptive Behavior Scales
Input from Speech-Language
Pathologist
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Measures of receptive language
Measures of expressive language, including
both communicative means (how) and
communicative functions (why)
Measures/observations of play and social
skills
Pragmatics
Medical Diagnostic Measures
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Comprehensive Physical and Neurological
examination
Laboratory evaluation
High resolution chromosome analysis
 DNA for Fragile X Syndrome
 Thyroid function testing
 Plasma amino acid screen
 Urine Organic acids
 Comparative Genomic Hybridization Study
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Medical Diagnostic Measures
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MRI of brain
Sleep deprived EEG
Screening and Diagnostic Measures
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Various standardized questionnaires and
structured interviews are part of a thorough
assessment for ASD.
Standardized measures can help by
providing information regarding:
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Symptoms
Primary domains of deficits
Severity of symptoms / deficits
Screening and Diagnostic Measures
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Autism Diagnostic Interview – Revised
Autism Diagnostic Observation Schedule
Childhood Asperger Syndrome Test
Checklist for Autism in Toddlers
Social Communication Questionnaire
Gilliam Autism Rating Scale
Childhood Autism Rating Scale
Intervention
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Early identification
Speech-Language Therapy
Occupational Therapy
Physical Therapy
Interaction with same aged normal peers
Intervention
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Development of a communication system
Picture Exchange Communication System (PECS)
 Visual schedules
 Visual cues
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Social skills training
Social stories
 Play groups
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Intervention
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Analysis of behavior for appropriate behavioral
intervention (e.g., ABA)
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Intensive behavioral approach
Goal is to teach children how to learn by focusing on
building blocks of development
Developmental, individual-difference,
relationship-based (DIR) / Floortime
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Use of play to build relatedness (e.g., warmth,
pleasure, meaningful communication, creativity)
Educational Intervention
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Teachers need specific training in the education
of children with Autism
Intensive Speech-Language therapy
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Collaboration between therapist, parents, and teacher
is critical
Promote behaviors with positive behavioral
strategies
Use of visual and manipulative educational
materials
Educational Intervention
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Visual communication aids
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Visual schedule, chart of daily activities
Social skills training
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Buddy system
Social stories
Positive reinforcement for positive behaviors
Key Issues for Intervention
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Early intervention is critical
Communication
Social Skills Development
Gradual increase in prosocial behaviors
Development of self & awareness of others
Medication
There are no medications that “cure”
Autism. Medication should be used for
specific symptoms.
Specific symptoms for
medication
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Anxiety
Obsessive-Compulsive behaviors
Depression
Self abusive behaviors
Aggression
Sleep deprivation
Medications Used
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Selective Sertonin Reuptake Inhibitors (SSRI)
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Prozac (Fluoxetine)
Zoloft (Sertraline)
Celexa (Citalopram)
Neuroleptics
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Risperdal(Risperidone)
Zyprexa (Olanzapine)
Geodon (Ziprasidone)
Abilify (Aripiprazole)
Medications Used Continued
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Alpha adrenergic agonists
Clonidine
 Guanfacine
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Mood stabilizers
Depakote (Valproic acid)
 Tegretol (Carbamazepine)
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Antiopiod
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Naltrexone
Alternative Therapies unproved
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Gluten-Casein Free Diet
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Nutritional Supplements
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Based on assumption Autism is an autoimmune abnormality
Secretin
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Based on hypothesis that minerals and/or vitamins improve
“autistic behaviors”
Immune globulin therapy
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Based on toxicologic opioid hypothesis
Intravenous hormone that stimulates pancreas and liver to
manage “autistic behaviors”
Chelation
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Based on hypothesis that mercury exposure is cause of
Autism
Autism and learning
The child with autism can learn skills for
communication, can develop the skills for
emotional and social relationships, and
can learn to diminish stereotypical
behavior. No one particular program works for
all children.
Autism
Autism is a lifelong developmental disorder.
Autism
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There is no “cure” for Autism.
Prognosis is dependent on cognition and
the ability to develop social skills.
Early intervention is critical and optimizes
treatment.
The following organizations can
offer information and support:
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Autism Society of America (ASA) www.autismsociety.org/ 7910 Woodmont Avenue, Suite 300,
Bethesda, Maryland 20814-3067, 1-800-3-AUTISM,
National Autism Hotline, P.O. Box 507, Huntington,
West Virginia 25710-0570, (304) 525-8014, fax (304)
525-8026.
Autism Research Institute, http://autism.com/ 4182
Adams Avenue, San Diego, California 92116, (619) 2817165, fax 619-563-6840.
MAAP, More Advanced individuals with Autism,
Asperger’s syndrome and Pervasive Developmental
Disorder,
Information and Support
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Autism Society of Kentuckiana www.ask-lou.org/ P.O.
Box 90, Pewee Valley, KY 40056,
Autism Society of the Bluegrass http://asbg.org/ 243
Shady Lane, Lexington, KY 40503-2034, (859) 278 4991
Indiana Resource Center for Autism
http://www.autismindiana.org/ Susan Pieples, President
P.O. Box 1064, Carmel, Indiana 46082 (317) 695-0252,
susan@broadhorizons.us.
Information and Support
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University of Louisville Autism Center at Kosair
Charities, 1405 E. Burnett Avenue, Louisville
KY 40217, (502) 852-1300
http://louisville.edu/autism/
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FEAT of Louisville 1100 East Market Street
Louisville KY 40206 (502) 596-1258
http://www.featoflouisville.org/