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

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

Described in 1943 by Dr. Leo Kanner

Study of 11 children
Early infantile autism

Characterized by social differences

Dr. Hans Asperger

Described milder form of disorder

Asperger syndrome

Autism Spectrum Disorder/

Pervasive Developmental Disorders

DSM-IV-TR (APA, 2000)

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

Aspergers
N.O.S.

Retts

Autism Spectrum Disorders

Autism (50-60%)

Social communication skills<cognitive skills

PDD-NOS

Asperger Syndrome

Social interaction deficits and restricted interests

Child Disintegrative Disorder

Sub-threshold Autism

Normal development for first 2 years of life

Rett Syndrome

Social Communication Disorders

Autism
Aspergers Disorder
Pervasive Developmental Disorder, NOS

Development of social
communication

Within the first and second year of life

children develop:

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

Teasing
Helping
Comforting

Development of social
communication
During the first and second year of life
children

Show interest in other people

Show curiosity about feelings and thoughts

Pretend
Make believe play

Social Communication requires:

Joint attention
Effective reciprocity or emotional sharing
The ability to realize that another person
has thoughts and ideas similar to you

Theory of Mind

Understanding the desires of another

Understanding the emotional state of
another person
Having the ability to figure out what a
persons intentions are
Knowledge that what you are thinking can
be conveyed to others through nonverbal
means

Case study
Joseph is a 2 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

Neurobiological disorder
Inconsistency of development
Expression of symptoms varies with age
and developmental level of person

Autism

Universally considered a neurobiological

disorder
No specific etiology
Likely complex etiology

Genetics
Environmental factors
Associated conditions

Genetic Aspects

5% recurrence risk
Concordance in 90% monozygotic twins
Concordance in <10% dizygotic twins
Mild associations with genetic syndromes

Fragile X syndrome (3%)

Tuberous Sclerosis (2-5%)

Associated with Autism perhaps

by chance

Neurofibromatosis
Cornelia de Lange Syndrome
Angelman Syndrome
Down Syndrome
Intrauterine exposure to:

Rubella
CMV
Varicella

Autism Facts

Common (1:160)
More common in
boys
Occurs across all
populations

Cause is not known

Considered a
spectrum disorder

Associated medical conditions

Mental retardation
Seizures

Two phases of presentation

Early childhood
Late adolescence

Linked to evidence of brain

dysfunction/damage

Autism through the lifespan

Infants and toddlers

Easy going too good baby

Baby with sensory processing abnormalities
Difficulty regulating behavior
Overexcited, fussy, crying inconsolably

Infants and Toddlers

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

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

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

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

Obsessions and compulsions

Common Features

Repeated body movements/stereotypies

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

Sensory issues
Difficulty with generalization
Overselectivity
Splinter skills

Middle Childhood

Subtypes emerge

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

Adolescents

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

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

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

Aspergers
N.O.S.

Retts

Asperger syndrome continued

No apparent cognitive impairment

No apparent receptive or expressive
language impairment

Asperger Syndrome

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

Normal language development

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

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

Qualitative impairments in social

interaction
2.

Impaired social communication

Rigid
Excessive or tedious
Pedantic
Narrow range of interests

Nonverbal Learning Disorders

Some experts believe that NLD and

Asperger Syndrome are one and the same

Clinical presentation is similar with

Asperger Syndrome

NLD Characteristics

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

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

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

Aspergers
N.O.S.

Retts

PDD:NOS/Atypical Autism

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

Attention problems
Impulse control difficulties
Sleep problems
Obsessive compulsive behaviors
Self-injurious behaviors
Tics
Depression
Anxiety

PDD Umbrella
Autism
Childhood
Disintegrative

Aspergers
N.O.S.

Retts

Childhood Disintegrative Disorder

Normal development 1st 2 years

Significant loss of skills (before 10 years)
in at least 2 areas:

Expressive or receptive language

Social skills or adaptive behavior
Bowel or bladder control
Play
Motor skills

Childhood Disintegrative cont

Abnormalities of functioning in at least 2

of the following areas:

Qualitative impairment in social interaction

Qualitative impairments in communication
Restricted, repetitive, and stereotyped
patterns of behavior, interests, and activities

Level One Assessment

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

Use broad-band screening questionnaires

Listen to parental concerns about childs
development
Ask specific developmental probes
regarding speech-language, social, and
behavioral development

Examples of Parent Concerns

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

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

Input from team

Input from parents
Input from school
Direct observation

Cognitive measures
Adaptive measures
Diagnostic measures
Clinical judgment

Cognitive Measures

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

Essential in the diagnosis of mental

retardation
Provides information regarding social and
communication functioning
Example:

Vineland Adaptive Behavior Scales

Input from Speech-Language

Pathologist

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

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

Medical Diagnostic Measures

MRI of brain
Sleep deprived EEG

Screening and Diagnostic Measures

Various standardized questionnaires and

structured interviews are part of a thorough
assessment for ASD.
Standardized measures can help by
providing information regarding:

Symptoms
Primary domains of deficits
Severity of symptoms / deficits

Screening and Diagnostic Measures

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

Early identification
Speech-Language Therapy
Occupational Therapy
Physical Therapy
Interaction with same aged normal peers

Intervention

Development of a communication system

Picture Exchange Communication System (PECS)
Visual schedules
Visual cues

Social skills training

Social stories
Play groups

Intervention

Analysis of behavior for appropriate behavioral

intervention (e.g., ABA)

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

Use of play to build relatedness (e.g., warmth,

pleasure, meaningful communication, creativity)

Educational Intervention

Teachers need specific training in the education

of children with Autism
Intensive Speech-Language therapy

Collaboration between therapist, parents, and teacher

is critical

Promote behaviors with positive behavioral

strategies
Use of visual and manipulative educational
materials

Educational Intervention

Visual communication aids

Visual schedule, chart of daily activities

Social skills training

Buddy system
Social stories
Positive reinforcement for positive behaviors

Key Issues for Intervention

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

Anxiety
Obsessive-Compulsive behaviors
Depression
Self abusive behaviors
Aggression
Sleep deprivation

Medications Used

Selective Sertonin Reuptake Inhibitors (SSRI)

Prozac (Fluoxetine)
Zoloft (Sertraline)
Celexa (Citalopram)

Neuroleptics

Risperdal(Risperidone)
Zyprexa (Olanzapine)
Geodon (Ziprasidone)
Abilify (Aripiprazole)

Medications Used Continued

Alpha adrenergic agonists

Clonidine
Guanfacine

Mood stabilizers
Depakote (Valproic acid)
Tegretol (Carbamazepine)

Antiopiod

Naltrexone

Alternative Therapies unproved

Gluten-Casein Free Diet

Nutritional Supplements

Based on assumption Autism is an autoimmune abnormality

Secretin

Based on hypothesis that minerals and/or vitamins improve autistic

behaviors

Immune globulin therapy

Based on toxicologic opioid hypothesis

Intravenous hormone that stimulates pancreas and liver to manage

autistic behaviors

Chelation

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

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:

Autism Society of America (ASA) www.autism-society

.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,
Aspergers syndrome and Pervasive Developmental
Disorder,

Information and Support

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

University of Louisville Autism Center at Kosair

Charities, 1405 E. Burnett Avenue, Louisville KY
40217, (502) 852-1300
http://louisville.edu/autism/

FEAT of Louisville 1100 East Market Street

Louisville KY 40206 (502) 596-1258
http://www.featoflouisville.org/