Autism Spectrum Disorders

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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

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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.

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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

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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

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PDD Umbrella

Aspergers
Autism
Childhood Disintegrative
N.O.S.
Retts
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Autism Spectrum Disorders

• Autism (50-60)
• Social communication skillsltcognitive 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

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Social Communication Disorders

• Autism
• Aspergers Disorder
• Pervasive Developmental Disorder, NOS

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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

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Social communication

• Teasing
• Helping
• Comforting

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Development of social communication

• During the first and second year of life
  children
• Show interest in other people
• Show curiosity about feelings and thoughts

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Pretend

• Make believe play

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Social Communication requires

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

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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

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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.

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Autism Spectrum Disorder

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

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Autism

• Universally considered a neurobiological disorder
• No specific etiology
• Likely complex etiology
• Genetics
• Environmental factors
• Associated conditions

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Genetic Aspects

• 5 recurrence risk
• Concordance in 90 monozygotic twins
• Concordance in lt10 dizygotic twins
• Mild associations with genetic syndromes
• Fragile X syndrome (3)
• Tuberous Sclerosis (2-5)

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Associated with Autism perhaps by chance

• Neurofibromatosis
• Cornelia de Lange Syndrome
• Angelman Syndrome
• Down Syndrome
• Intrauterine exposure to
• Rubella
• CMV
• Varicella

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Autism Facts

• Common (1160)
• More common in boys
• Occurs across all populations

• Cause is not known
• Considered a spectrum disorder

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Associated medical conditions

• Mental retardation
• Seizures
• Two phases of presentation
• Early childhood
• Late adolescence
• Linked to evidence of brain dysfunction/damage

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Autism through the lifespan

• Infants and toddlers
• Easy going too good baby
• Baby with sensory processing abnormalities
• Difficulty regulating behavior
• Overexcited, fussy, crying inconsolably

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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

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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

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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

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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

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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)

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Common Features, continued

• Sensory issues
• Difficulty with generalization
• Overselectivity
• Splinter skills

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Middle Childhood

• Subtypes emerge
• Aloof
• Passive
• Active but odd
• Stereotypies diminish
• Divergence of population with language
  acquisition and developing cognitive skills

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Associated findings

• Clumsiness
• Dyspraxia
• Sensory processing difficulties
• Hypotonia
• Joint laxity
• Toe walking

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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

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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

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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

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PDD Umbrella

Aspergers
Autism
Childhood Disintegrative
N.O.S.
Retts
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Asperger syndrome continued

• No apparent cognitive impairment
• No apparent receptive or expressive language
  impairment

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Asperger Syndrome

• Impairment in social interaction
• Restricted, repetitive, and stereotyped patterns
  of behavior

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• 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.

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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

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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

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Asperger Syndrome

• Qualitative impairments in social interaction
• Impaired social communication
• Rigid
• Excessive or tedious
• Pedantic
• Narrow range of interests

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Nonverbal Learning Disorders

• Some experts believe that NLD and Asperger
  Syndrome are one and the same
• Clinical presentation is similar with Asperger
  Syndrome

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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

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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.

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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.

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PDD Umbrella

Aspergers
Autism
Childhood Disintegrative
N.O.S.
Retts
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PDDNOS/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

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Autism Spectrum Disorders Associated problems

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

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PDD Umbrella

Aspergers
Autism
Childhood Disintegrative
N.O.S.
Retts
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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

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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

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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

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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

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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

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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

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Level Two Evaluation

• Diagnosis and Assessment of Autism

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Diagnostic Toolbox

• Input from team
• Input from parents
• Input from school
• Direct observation

• Cognitive measures
• Adaptive measures
• Diagnostic measures
• Clinical judgment

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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)

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Adaptive Measures

• Essential in the diagnosis of mental retardation
• Provides information regarding social and
  communication functioning
• Example
• Vineland Adaptive Behavior Scales

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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

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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

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Medical Diagnostic Measures

• MRI of brain
• Sleep deprived EEG

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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

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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

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Intervention

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

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Intervention

• Development of a communication system
• Picture Exchange Communication System (PECS)
• Visual schedules
• Visual cues
• Social skills training
• Social stories
• Play groups

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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)

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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

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Educational Intervention

• Visual communication aids
• Visual schedule, chart of daily activities
• Social skills training
• Buddy system
• Social stories
• Positive reinforcement for positive behaviors

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Key Issues for Intervention

• Early intervention is critical
• Communication
• Social Skills Development
• Gradual increase in prosocial behaviors
• Development of self awareness of others

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Medication

• There are no medications that cure
• Autism. Medication should be used for
• specific symptoms.

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Specific symptoms for medication

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

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Medications Used

• Selective Sertonin Reuptake Inhibitors (SSRI)
• Prozac (Fluoxetine)
• Zoloft (Sertraline)
• Celexa (Citalopram)
• Neuroleptics
• Risperdal(Risperidone)
• Zyprexa (Olanzapine)
• Geodon (Ziprasidone)
• Abilify (Aripiprazole)

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Medications Used Continued

• Alpha adrenergic agonists
• Clonidine
• Guanfacine
• Mood stabilizers
• Depakote (Valproic acid)
• Tegretol (Carbamazepine)
• Antiopiod
• Naltrexone

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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

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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.

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Autism

• Autism is a lifelong developmental disorder.

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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.

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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 [phone].
• Autism Research Institute, http//autism.com/
  4182 Adams Avenue, San Diego, California 92116,
  [phone], fax [phone].
• MAAP, More Advanced individuals with Autism,
  Aspergers syndrome and Pervasive Developmental
  Disorder,

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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
  [phone], susan_at_broadhorizons.us.

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Information and Support

• University of Louisville Autism Center at Kosair
  Charities, 1405 E. Burnett Avenue, Louisville KY
  40217, [phone] http//louisville.edu/autism
  /
• FEAT of Louisville 1100 East Market Street
  Louisville KY 40206 [phone]
  http//www.featoflouisville.org/