Autism
Saundra Stock, M.D.
Disease Overview
Pervasive Developmental Disorders (PDDs)
Childhood
Disintegrative
Disorder (CDD)
Autistic
Disorder
Autism Spectrum
Disorders* (ASDs)
Asperger’s
Disorder
Rett’s
Disorder
Pervasive
Developmental
Disorder Not Otherwise
Specified (PDD-NOS)
*ASD is not a DSM-IV TR definition but reflects categorization in the general public.
Tidmarsh L et al. Can J Psychiatry. 2003;48:517-525; DSM-IV TR. Washington, DC: American Psychiatric
Association; 2000.
Diagnostic Criteria
Autism is characterized by deficits in 3 core areas before age 3
At least 6 items are needed for diagnosis*
Social Interaction(2)
Communication (1)
Behavior (1)
• Marked impairment in
multiple nonverbal
behaviors
• Delay in, or total lack of,
development of spoken
language
• Failure to have
developmentally
appropriate peer
relationships
• Marked impairment in
ability to initiate or
sustain conversation
• Preoccupation with
1/more stereotyped
and restricted patterns of
interest that are abnormal
in intensity or focus
• Lack of showing,
bringing, or pointing
out objects of interest
• Lack of social or
emotional reciprocity
• Stereotyped and repetitive
use of language, or use of
idiosyncratic language
(echolalia, pronoun reversals,
odd cadence, scripting)
• Lack of varied,
spontaneous makebelieve play or social
imitative play appropriate to
developmental level
*DSM-IV TR. Washington, DC: American Psychiatric Association; 2000.
• Apparently inflexible
adherence to specific,
nonfunctional routines
or rituals
• Stereotyped and repetitive
motor mannerisms
• Persistent preoccupation
with parts of objects
Autism
what is not
• Not synonymous with mental retardation
• Not related to IQ
– Mental retardation is IQ below 70 plus
problems in social or occupational functioning
• Not the same as delays in developmental
milestones or learning difficulties
Theory of Mind
What does the boy thing is on the fishing line?
Screening questions
• Does your child take an interest in other children?
• Does your child ever point to things with the index
finger to indicate interest in something?
• Does your child ever bring you objects to show you?
• Does your child imitate you? For example facial
expression.
• Does your child respond if you call his name?
• If you point to something across the room, does your
child look at it?
Neurobiology
•
•
•
•
•
•
No evidence linking MMR vaccine
1st birthday videos
Fusiform gyrus for pts and relatives
“Who’s afraid of Virginia Wolfe”
Theory of Mind (Baron-Cohen)
Mirror neurons - pars opercularis inf orbital
frontal cortex  Social stories (carol gray)
Visual tracking of faces
• People with autism
viewing movie attend to
different parts of the
face compared to
normal controls
Klin 2002 Arch Gen Psych
Autism
• First described in 1943 by Leo Kanner
• Can show signs as early as 6 months
• Trouble with intersubjectivity understanding what others think/feel
• Theory of mind
• Myths- MMR vaccine, low b vitamin
Autism
• 1 in 150 children has autism (M>F; 4:1)
• 3/4 are mentally retarded
• Lower IQ associated with greater risk of
seizures and poor outcomes
• 25-50% develop sz’s, often as adolescent
• Increased concordance monzygotic twins
• Idiot savants only 10% of pts with autism
• Larger brain size by age 1, abnl fusiform gyrus
fxn
Autism
• Co-occurs with many other medical
conditions. Work up may include:
• Genetic screening or chromosomal analysis
(fragile X etc.)
• Brain imaging to r/o tuberous sclerosis
• EEG and neurologic consult
Autism
• Best predictor of prognosis is language
function at age 5
• Wait times to get into programs can be
lengthy
• Treatment mainly psychosocial
– School programs, social skills, teaching theory
of mind (carol gray’s social stories), parent
education, respite for parents, support groups
Importance of an Early Diagnosis
• Facilitates earlier educational planning
– Participation in intensive early intervention programs during
toddler and preschool years improves long-term outcome
for many children
• May ease family problems
– Identifies the need for family support and education
– Introduces strategies designed to help manage stress
• Ensures early delivery of appropriate medical care
1. Committee on Children With Disabilities. Pediatrics. 2001;107:E85.
2. Filipek PA et al. Neurology. 2000;55:468-479.
Children and Adolescents With Autistic
Disorder: The Treatment Team
Child
Psychiatrist
Psychologist
General or
Developmental
Pediatrician
Effective patient
care may
include an
interdisciplinary
treatment team
Pediatric
Neurologist
Speech
Pathologist
Teachers
Social Worker
Parents
The Autism Society. http://www.autism-society.org/site/PageServer?pagename=about_whatis_diagnosis. Accessed 11.15.06
Behavioral Problems in Autism
• Associated Symptoms:
–
–
–
–
–
–
Agitation or aggression
Hyperactivity
Irritability
Self-injurious behaviors
Temper Tantrums
Inflexible behavior
• When they emerge, these behavioral problems
may have serious consequences for children and
their families
Pharmacology
• No curative medication
• Only to relieve symptoms
• End up on all kinds of medications
– Stimulants, antidepressants, mood stabilizers,
antipsychotics
• Be cautious about medication interactions
and the number of meds
Pharmacology
• Stimulants were thought to be
contraindicated in past
• Do not work as well for inattention in this
population as basis for inattention different
(I.e. not traditional ADHD)
• Often have more side effects than for other
kids
Pharmacology
• Serotinergic agents used for rigid or
“obsessive” qualities
– Restricted range of interests
– Stereotypies
– Tantrums due to trouble with transitions
• SSRIs & buspirone – evidence equivocal in RCTs
Pharmacology
• Mood stabilizers may help with impulsive
aggression or “explosive” behavior - more
recent studies indicate limited use
• Lithium, divalproex sodium,
carbamazepine, oxcarbazine
• Blood draws can limit usefulness
• Can be difficult to assess toxicity
Pharmacology
antipsychotics
• Many kids on chlorpromazine or thioridazine in
past (rapid titration)
• Now use atypical antipsychotics
– Risperidone and aripiprazole studies in popn with
autism and found to hyperactivity and irritability
• Risperidone FDA approved down to age 5
• Aripiprazole FDA approved down to age 6
• Lower doses than adults (start low go slow)
• Weight gain more problematic in kids
Compared to older medication
• 43% difference btwn Risp and plc on
Irritability scale - similar study with
haloperidal showed 20% difference
• 78% of kids on haloperidal had excessive
sedation and 25% had an acute dystonic
reaction
• RUPP study 59% of kids had mild sedation
and no dystonic reactions with risp
Anderson LT J Autism Dev Disord 1989;19:227-39
Summary
• The core treatment for autism is
psychosocial
• Medication can be adjunctive to behavioral
treatment
• Targets of medication include rigid
behaviors, aggression, irritability,
hyperactivity and stereotypies
• Further info:
– Autismspeaks.com
– Cure autism now