Transcript Mini Med School Autism Presentation

Autism and Pervasive
Developmental Disorders
Kenneth M. Rogers, MD, MSHS
Director, Child and Adolescent
Psychiatry Residency
Overview
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History
Symptoms
Incidence
Genetics vs.
Environment?
• Testing/Treatment
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.
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 4:1
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.
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
What is an Autism Spectrum
Disorder?
The spectrum consists of:
•Autism
•Asperger’s Disorder
•Pervasive Developmental Disorder NOS
Major impairments:
•Social Skills/Relationships
•Communication
•Stereotypical Behaviors
•Desire for Sameness
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
Autism (con’t)
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 )
Autism (con’t)
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
Autism (con’t)
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
Autism (con’t)
C. Restrictive, Repetative and Stereotyped Patterns of
Behavior
- AT LEAST ONE OF THE FOLLOWING
1. Encompassing preoccupation with one or more
stereotyped and restricted patterns of interest
that is abnormal either in intensity or focus
2. Apparently inflexible adherence to specific,
nonfunctional routines or rituals
Autism (con’t)?
3. Stereotyped and repetitive motor mannerisms
(e.g hand or finger flapping or twisting, or
complex whole body movements)
4. Persistent preoccupation with parts of objects
Autism (con’t)
II. Delays or abnormal functioning in at least one of
the following areas, with onset prior to age 3
years:
A. social interaction
B. language as used in social communication
C. symbolic or imaginative play
III. The disturbance is not better accounted for by
Rett's Disorder or Childhood Disintegrative Disorder
Asperger’s 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.
Asperger’s Disorder (con’t)
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.
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
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
• Doesn’t play with toys or others
• Fails to respond to affection
• Prolonged temper tantrums
Diagnostic tools
• Autism Diagnostic Interview – Revised
(ADI-Revised): 2-4 hour interview with
parents of child’s 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
Early onset vs. regression
Source: Autism Research Institute
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
No straight lines from genes to
behavior
Genetic vulnerability + environmental
exposure
Remember:
Genes alone produce proteins – not
behaviors
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 Rett’s
Syndrome, a single gene has been identified for
each
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
Rapid increase in incidence
• 1970’s: 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 4:1 boy:girl
ratio
• In California (which has best statistics), autism now
accounts for 45% of all new developmental
disabilities
Why rising rate of autism?
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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?)
Prognosis?
Two major lifetime studies:
Autism: 90% of adults unable to work, unable
to live independently, < 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
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 reevaluated frequently.
Co-Morbid Disorders
• Co-morbidity is common
• Common co-morbid conditions
– Mental retardation
– Anxiety
– Depression
– ADHD/Impulsivity
• Co-morbid conditions must be addressed
separately
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)
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.
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
Other Evidence-Based
Therapies
– Speech Therapy
– Occupational Therapy/Physical Therapy
– Physical Therapy
– Sensory Integration
– Auditory Integration Therapy (AIT)
– Vocational Therapy