Autism and Pervasive Developmental Disorders

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Autism and Pervasive Developmental Disorders

• Kenneth M. Rogers, MD, MSHS
• Director, Child and Adolescent Psychiatry
  Residency

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Overview

• History
• Symptoms
• Incidence
• Genetics vs. Environment?
• Testing/Treatment

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History of Autism

• Autism was first described by Leo Kanner in 1943
• He called the syndrome early infantile
  schizophrenia
• Autism was often misdiagnosed as childhood
  schizophrenia
• Early theorists thought that Autism was due to
  cold and unnurturing mothers". This theory has
  been debunked.

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What Do We Know About Autism?

• Autism
• is a lifelong disability
• is characterized by severe problems in 3 areas
  communication, behavior, and social skills.
• is a developmental disability
• occurs primarily in males. The ratio is 41

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What Do We Know About Autism?

• Autism
• occurs in approximately 1 out of 250 live births.
• typically manifests between ages 18 months and 3
  years.
• is not specific or more prevalent in any racial
  groups or locations throughout the world.

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What Do We Know About Autism?

• There is no cure, but the earlier that it is
  identified and treated, the better the outcome.
• There are numerous treatments including
  educational, social, and biological.
• Better and more intensive treatment means better
  outcomes

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What is an Autism Spectrum Disorder?

• The spectrum consists of
• Autism
• Aspergers Disorder
• Pervasive Developmental Disorder NOS
• Major impairments
• Social Skills/Relationships
• Communication
• Stereotypical Behaviors
• Desire for Sameness

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Autism

• A. Qualitative Impairment in Social Interaction
  AT LEAST TWO OF THE FOLLOWING
• 1. Marked impairments in the use of multiple
  nonverbal behaviors such as eye-to-eye gaze,
  facial expression, body posture, and gestures to
  regulate social interaction
• 2. Failure to develop peer relationships
  appropriate to developmental level

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Autism (cont)

• 3 A lack of spontaneous seeking to share
  enjoyment, interests, or achievements with other
  people, (e.g., by a lack of showing, bringing, or
  pointing out objects of interest to other
  people)
• 4. Lack of social or emotional reciprocity (note
  in the description, it gives the following as
  examples not actively participating in simple
  social play or games, preferring solitary
  activities, or involving others in activities
  only as tools or "mechanical" aids )

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Autism (cont)

• B. Qualitative Impairment in Communication AT
  LEAST ONE OF THE FOLLOWING
• 1. Delay in, or total lack of, the development of
  spoken language (not accompanied by an attempt to
  compensate through alternative modes of
  communication such as gesture or mime)
• 2. In individuals with adequate speech, marked
  impairment in the ability to initiate or sustain
  a conversation with others

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Autism (cont)

• 3. Stereotyped and repetitive use of language or
  idiosyncratic language
• 4. Lack of varied, spontaneous make-believe play
  or social imitative play appropriate to
  developmental level

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Autism (cont)

• C. Restrictive, Repetative and Stereotyped
  Patterns of Behavior- AT LEAST ONE OF THE
  FOLLOWING
• Encompassing preoccupation with one or more
  stereotyped and restricted patterns of interest
  that is abnormal either in intensity or focus
• Apparently inflexible adherence to specific,
  nonfunctional routines or rituals

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Autism (cont)?

• Stereotyped and repetitive motor mannerisms (e.g
  hand or finger flapping or twisting, or complex
  whole body movements)
• Persistent preoccupation with parts of objects

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Autism (cont)

• II. Delays or abnormal functioning in at least
  one of the following areas, with onset prior to
  age 3 years
• social interaction
• language as used in social communication
• symbolic or imaginative play
• III. The disturbance is not better accounted for
  by Rett's Disorder or Childhood Disintegrative
  Disorder

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Aspergers Disorder?

• I. Same Social Impairments as Autism
• II. The level of language delay/communication is
  not as great as in Autism
• III. The disturbance causes clinically
  significant impairments in social, occupational,
  or other important areas of functioning.

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Aspergers Disorder (cont)

• IV. There is no clinically significant delay in
  cognitive development or in the development of
  age-appropriate self help skills, adaptive
  behavior (other than in social interaction) and
  curiosity about the environment in childhood.

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Early Symptoms 18 Months to 3 Years

• Feeding problems, such as poor nursing ability.
• Apathetic and unresponsive-showing little or no
  desire to being held and cuddled
• Constant crying or the unusual absence if crying
• Disinterest in people or surroundings
• Repetitive movements such as hand shaking,
  prolonged rocking, head banging
• Sleep problems
• Insistence on being left alone

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Early Symptoms 18 Months to 3 Years

• Difficulty in toilet training
• Odd eating habits and preferences
• Late speech, no speech, or loss of previously
  acquired speech
• Sleep problems, such as needing only a few hours
  of sleep each night
• Doesnt play with toys or others
• Fails to respond to affection
• Prolonged temper tantrums

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Diagnostic tools

• Autism Diagnostic Interview Revised
  (ADI-Revised) 2-4 hour interview with parents
  of childs history
• Autism Diagnostic Observation Schedule (ADOS)
  one-hour structured and unstructured interaction
  with child
• Childhood Autism Ratings Scales (CARS)
• E-2 Diagnostic Checklist Parents checklist
  scored for no charge. Download pdf file from
  www.autism.com

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Early onset vs. regression
Source Autism Research Institute
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Genetic or environmental cause?

• Studies of identical twins reveal
• Co-occurrence is 40-80 if 100, then only due
  to genes so genes are important, but so are
  unknown environmental factors
• 5-10 chance siblings of ASD children will have
  autism
• 25 chance of major speech delay so carefully
  monitor siblings

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No straight lines from genes to behavior

• Genetic vulnerability environmental exposure
• Remember
• Genes alone produce proteins not behaviors

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Which Genes?

• The cause is multifactorial
• Many genetic studies of autism, but they
  generally disagree too few subjects and too many
  genes
• Probably 10-20 genes involved in complex manner
• In two similar conditions, Fragile X and Retts
  Syndrome, a single gene has been identified for
  each

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Which Environmental Causes?

• No general agreement
• Possible causes with limited scientific data
  include
• High levels of heavy metals (e.g., mercury, lead,
  aluminum) due to limited excretion because of low
  glutathione
• Excessive oral antibiotic usage (gut damage
  poor health and neurodevelopment due to poor
  digestion of nutrients)
• Vaccine damage (especially MMR)
• Exposure to pesticides
• Lack of essential minerals (iodine, lithium)
• Other unknown factors

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Rapid increase in incidence

• 1970s 2-3 per 10,000
• 2007 1 per 150 (U.S.) 1 per 58 (U.K.)
• In the U.S., affects 1 in 80 boys, since 41
  boygirl ratio
• In California (which has best statistics), autism
  now accounts for 45 of all new developmental
  disabilities

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Why rising rate of autism?

• Partly due to better awareness/diagnosis, but
  that is only modest effect (per study by MIND
  Institute)
• Not due to genetics gene pool changes slowly
• So, primary reason is most likely increased
  exposure to environmental factors (mercury,
  antibiotics, MMR, pesticides, iodine deficiency,
  other?)

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Prognosis?

• Two major lifetime studies
• Autism 90 of adults unable to work, unable to
  live independently, lt 1 social interaction/month
• Asperger (50 with college degrees)
• Similar prognosis social skills, limited use
  of intellectual abilities
• Grim prognosis if untreated, but many treatments
  now available, and there is MUCH more hope

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Treatment Strategies

• Autism is a constellation of symptoms rather than
  a disease. There is not a single treatment that
  works for everyone.
• The treatment is multi-modal and
  multidisciplinary.
• Education will almost always be the lead
  discipline.
• Plans should be comprehensive and re-evaluated
  frequently.

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Co-Morbid Disorders

• Co-morbidity is common
• Common co-morbid conditions
• Mental retardation
• Anxiety
• Depression
• ADHD/Impulsivity
• Co-morbid conditions must be addressed separately

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Behavioral therapies

• ABA most widely accepted/implemented evidence
  based well documented results
• Storyboarding
• Pivotal Response Training
• Sensory Integration Therapy
• Floor Time
• Relationship Development Intervention (RDI)

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Applied Behavior Analysis (ABA)

• Pioneered by Dr. Ivar Lovaas at UCLA in the
  1960s.
• Research study (1987) evaluated 19 young autistic
  children ranging from 35 to 41 months of age.
  Children received over two years of intensive,
  40-hour/week behavioral intervention.
• Nearly half of the children improved so much they
  were indistinguishable from typical children.
  They went on to lead fairly normal lives.
• Of the other half, most had significant
  improvements, but a few did not improve much.

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ABA Today

• Several variations today, but general agreement
  that
• Usually beneficial, sometimes very beneficial
• Most beneficial with young children, but older
  children can benefit
• 20-40 hours/week is ideal
• Prompting, as necessary, to achieve high level of
  success, with gradual fading of prompts
• Therapists need proper training and supervision
• Regular team meetings needed to maintain
  consistency

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Other Evidence-Based Therapies

• Speech Therapy
• Occupational Therapy/Physical Therapy
• Physical Therapy
• Sensory Integration
• Auditory Integration Therapy (AIT)
• Vocational Therapy