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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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Autism spectrum disorders

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


  • 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
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
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

Autism spectrum disorders

PDD Umbrella







Autism spectrum disorders1
Autism Spectrum Disorders

  • Autism (50-60%)

    • Social communication skills<cognitive skills

    • PDD-NOS

      • Sub-threshold Autism

  • Asperger Syndrome

    • Social interaction deficits and restricted interests

  • Child Disintegrative Disorder

    • Normal development for first 2 years of life

  • Rett Syndrome

Social communication disorders
Social Communication Disorders

  • Autism

  • Asperger’s Disorder

  • Pervasive Developmental Disorder, NOS

Development of social communication
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
Social communication

  • Teasing

  • Helping

  • Comforting

Development of social communication1
Development of social communication

During the first and second year of life children

  • Show interest in other people

  • Show curiosity about feelings and thoughts


Make believe play

Social communication requires
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
Theory of Mind

  • 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
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 disorder1
Autism Spectrum Disorder

  • Neurobiological disorder

  • Inconsistency of development

  • Expression of symptoms varies with age and developmental level of person


  • Universally considered a neurobiological disorder

  • No specific etiology

  • Likely complex etiology

    • Genetics

    • Environmental factors

    • Associated conditions

Genetic aspects
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
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

Autism Facts

Associated medical conditions
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
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
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
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
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
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
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
    Common Features, continued

    • Sensory issues

    • Difficulty with generalization

    • Overselectivity

    • Splinter skills

    Middle childhood
    Middle Childhood

    • Subtypes emerge

      • Aloof

      • Passive

      • Active but odd

    • Stereotypies diminish

    • Divergence of population with language acquisition and developing cognitive skills

    Associated findings
    Associated findings

    • Clumsiness

    • Dyspraxia

    • Sensory processing difficulties

    • Hypotonia

    • Joint laxity

    • Toe walking


    • 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


    • 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
    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

    Autism spectrum disorders

    PDD Umbrella







    Asperger syndrome continued
    Asperger syndrome continued

    • No apparent cognitive impairment

    • No apparent receptive or expressive language impairment

    Asperger syndrome
    Asperger Syndrome

    • Impairment in social interaction

    • Restricted, repetitive, and stereotyped patterns of behavior

    Autism spectrum disorders

    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 syndrome1
    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 syndrome2
    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 syndrome3
    Asperger Syndrome

    • Qualitative impairments in social interaction

      • Impaired social communication

        • Rigid

        • Excessive or tedious

        • Pedantic

        • Narrow range of interests

    Nonverbal learning disorders
    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
    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
    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
    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.

    Autism spectrum disorders

    PDD Umbrella







    Pdd nos atypical autism
    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
    Autism Spectrum Disorders: Associated problems

    • Attention problems

    • Impulse control difficulties

    • Sleep problems

    • Obsessive compulsive behaviors

    • Self-injurious behaviors

    • Tics

    • Depression

    • Anxiety

    Autism spectrum disorders

    PDD Umbrella







    Childhood disintegrative disorder
    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 con t
    Childhood Disintegrative con’t

    • 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
    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
    Level One, continued

    • 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
    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
    Absolute Indicatorsfor 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

    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

    Diagnostic Toolbox

    Cognitive measures
    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
    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
    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
    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 measures1
    Medical Diagnostic Measures

    • MRI of brain

    • Sleep deprived EEG

    Screening and diagnostic measures
    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 measures1
    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


    • Early identification

    • Speech-Language Therapy

    • Occupational Therapy

    • Physical Therapy

    • Interaction with same aged normal peers


    • Development of a communication system

      • Picture Exchange Communication System (PECS)

      • Visual schedules

      • Visual cues

  • Social skills training

    • Social stories

    • Play groups

  • Intervention2

    • 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
    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 intervention1
    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
    Key Issues for Intervention

    • Early intervention is critical

    • Communication

    • Social Skills Development

    • Gradual increase in prosocial behaviors

    • Development of self & awareness of others


    There are no medications that “cure”

    Autism. Medication should be used for

    specific symptoms.

    Specific symptoms for medication
    Specific symptoms for medication

    • Anxiety

    • Obsessive-Compulsive behaviors

    • Depression

    • Self abusive behaviors

    • Aggression

    • Sleep deprivation

    Medications used
    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
    Medications Used Continued

    • Alpha adrenergic agonists

      • Clonidine

      • Guanfacine

  • Mood stabilizers

    • Depakote (Valproic acid)

    • Tegretol (Carbamazepine)

  • Antiopiod

    • Naltrexone

  • Alternative therapies unproved
    Alternative Therapies unproved

    • Gluten-Casein Free Diet

      • Based on toxicologic opioid hypothesis

  • Nutritional Supplements

    • Based on hypothesis that minerals and/or vitamins improve “autistic behaviors”

  • Immune globulin therapy

    • Based on assumption Autism is an autoimmune abnormality

  • Secretin

    • 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
    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 is a lifelong developmental disorder.


    • 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
    The following organizations can offer information and support:

    • Autism Society of America (ASA) 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, 4182 Adams Avenue, San Diego, California 92116, (619) 281-7165, fax 619-563-6840.

    • MAAP, More Advanced individuals with Autism, Asperger’s syndrome and Pervasive Developmental Disorder,

    Information and support
    Information and Support support:

    • Autism Society of Kentuckiana P.O. Box 90, Pewee Valley, KY 40056,

    • Autism Society of the Bluegrass 243 Shady Lane, Lexington, KY 40503-2034, (859) 278 4991

    • Indiana Resource Center for Autism Susan Pieples, President P.O. Box 1064, Carmel, Indiana 46082 (317) 695-0252,

    Information and support1
    Information and Support support:

    • University of Louisville Autism Center at Kosair Charities, 1405 E. Burnett Avenue, Louisville KY 40217, (502) 852-1300

    • FEAT of Louisville 1100 East Market Street Louisville KY 40206 (502) 596-1258