Rachelle Tyler, M.D.
Associate Professor of Pediatrics
David Geffen School of Medicine at UCLA
AUTISM
Ventura County Medical Center
December 10, 2008
I.
II.
Case Presentation
Clinical Definition
Heterogeneous neurodevelopmental disorder characterized by
impairments in:
Reciprocal social interactions
Verbal and non-verbal communication
Range of activities or interests
III.
Prevalence
A.
Prior to 1985—5 to 10/10,000
B.
Mid-nineties—Reports to CDC
C.
Recent—1/150 children
D.
Four males: one female
IV.
Postulates on Increased Prevalence
A.
Greater awareness
B.
More developmental screening and evaluation
C.
Broadened criteria (e.g. Autism spectrum Disorder)
D.
Labels get services
E.
Assortive mating
V.
Etiology
A.
Genetics—likely polygenic disorder resulting from geneenvironment interactions
B.
Possibly chromosomal “hot spots” with loci on 6, 7, 13, 15, 17,
and 22
C.
Possible various environmental triggers in those who are
genetically predisposed have not been identified
Genetic Predisposition
A.
More common in families who have a history of other psychiatric
disorders
B.
More common in families with another child with autism
C.
More common in families with other family members who have
mild communication and social impairment problems
VI.
VII.
Diagnosis
A.
Complete history with focus on time of onset and severity of
difficulties
B.
{Physical exam with focus on ruling out dysmorphic features (e.g.
epicanthal folds, short fingers)
C.
Rule out hearing deficit—no more than 20db loss
D.
Rule out visual deficit
E.
Laboratory tests (chromosomal analysis if dysmorphic features are
present)
F.
Onset of symptoms prior to 3 years of age
G.
Most commonly diagnosed between 25. to 5 years of age
H.
Core symptoms:
1.
Impaired social interactions/functioning
2.
Impairment in communication
3.
Repetitive behaviors/limited repertoire of activities
VIII.
Impaired Social Interactions
A.
Minimally initiates activity with others
B.
Minimally responds appropriately when approached
C.
Uses others as objects
IX.
Impairment in Communication
A.
Does not talk by 18 months of age
B.
Regression of language skills between 16 and 24 months of age
C.
Minimally orients to name being called
D.
Ecolalic speech
E.
Deficits in language pragmatics
X.
Restricted Activities/Interests
A.
Ritualistic behaviors
B.
Intolerant in changes in daily routines
C.
Difficulty with transitions during the day
XI.
Detection of Developmental Disabilities in Children
A.
approximately 10% of children have developmental disabilities
B.
Less than 30% are detected
C.
Subtle disabilities are difficult to detect at younger ages
D.
Detection must be done early for interventions to occur
XII.
Mandate on Developmental Screenings
A.
Title V of the Social Security Act and Individuals with Disabilities
Education Improvement Act (IDEA) 2004)
“Child health care professionals to provide early identification and
intervention for children with developmental disabilities through
community based collaborative systems”.
B.
AAP Policy Statement: July 2006
Identification of infants and young children with developmental disorders
in the medical home through:
1.
Surveillance
2.
Screening
3.
Evaluation
XIII.
Mandated Developmental Screening Intervals
A.
Nine months
B.
Eighteen months
C.
Thirty months
D.
Four years
E.
Any time a parent/guardian has a concern
XIV. Screening Tools
A.
PEDS
B.
Ages and Stages
C.
Denver Developmental
XV.
Screening for Autism—intervals
A.
Eighteen months
B.
Twenty four months
C.
Thirty months
XVI. Screening Tools—Autism
A.
CARS (Childhood Autism Rating Scale)
B.
MCHAT (Modified Checklist for Autism in Toddlers)
C.
CHAT (Checklist for Autism in Toddlers)
XVII. MCHAT (Modified Checklist for Autism in Toddlers)
XVIII. Evaluations
A.
Bayley III
B.
ADOS (Autism Diagnostic Observation Schedule)
C.
Wechsler Intelligence Scale for Children (WISC-III)
XIX. Differential
A.
Mental retardation
B.
Fragile X
C.
Retts syndrome
XX.
Autism Spectrum Disorder
A.
High functioning
1.
Normal cognition
2.
Communication may be good, but concrete
3.
Asperger syndrome—normal or close to normal language
B.
Low functioning
1.
IQ below 70
2.
Poor communication skills
3.
Repetitive behaviors
XXI. Associated Disorders
A.
Problems with sensory integration
B.
Seizures
C.
Tourette’s syndrome
XXII. Management
A.
Life-long
B.
Goal—optimal independence
C.
Early intervention
D.
Specific interventions
1.
Speech therapy
2.
Occupational therapy
3.
Behavioral therapy
XXIII. Medications
A.
Antidepressants
B.
Anti-psychotics
C.
Stimulants
XXIV. Resources
A.
Regional Centers
B.
Local school districts
C.
Community professionals
XXV. Prognosis
A.
IQ
B.
Language development
C.
Environment
Selected References
Council on children with disabilities, Section on Developmental Behavioral Pediatrics,
Bright Futures Steering committee and Medical Home Initiatives for Children with
Special Needs Project. Pediatrics Vol. 118 No. 1 July 2006, pp. 405-420. Policy
Statement: Identifying Infants and Young children with Developmental disorders in the
Medical Home: An algorithm for developmental surveillance and screening
Johnson, Chris Plauche, Myers, Scott, and the Council on Children with Disabilities.
Pediatrics Vol. 120 No. 5 November 2007, pp. 1183-1225. Clinical Report: Identification
and Evaluation of Children with Autism Spectrum Disorders.
Myers, Scott, Johnson, Chris Plauche, and the council on Children with Disabilities.
Pediatrics 2007 vol. 120; 1162-1182.
Child’s Name Filled out by:
Date of Birth Relationship to child
Today’s date
Modified Checklist for Autism in Toddlers (M-CHAT)
Please fill out the following about how your child usually is. Please try to answer every question.
If the behavior
is rare (e.g., you've seen it once or twice), please answer as if the child does not do it.
1. Does your child enjoy being swung, bounced on your knee, etc.? Yes No
2. Does your child take an interest in other children? Yes No
3. Does your child like climbing on things, such as up stairs? Yes No
4. Does your child enjoy playing peek-a-boo/hide-and-seek? Yes No
5. Does your child ever pretend, for example, to talk on the phone or take care of dolls, or
pretend other things?
Yes No
6. Does your child ever use his/her index finger to point, to ask for something? Yes No
7. Does your child ever use his/her index finger to point, to indicate interest in something? Yes No
8. Can your child play properly with small toys (e.g. cars or bricks) without just mouthing,
fiddling, or dropping them?
Yes No
9. Does your child ever bring objects over to you (parent) to show you something? Yes No
10. Does your child look you in the eye for more than a second or two? Yes No
11. Does your child ever seem oversensitive to noise? (e.g., plugging ears) Yes No
12. Does your child smile in response to your face or your smile? Yes No
13. Does your child imitate you? (e.g., you make a face-will your child imitate it?) Yes No
14. Does your child respond to his/her name when you call? Yes No
15. If you point at a toy across the room, does your child look at it? Yes No
16. Does your child walk? Yes No
17. Does your child look at things you are looking at? Yes No
18. Does your child make unusual finger movements near his/her face? Yes No
19. Does your child try to attract your attention to his/her own activity? Yes No
20. Have you ever wondered if your child is deaf? Yes No
21. Does your child understand what people say? Yes No
21. Does your child sometimes stare at nothing or wander with no purpose? Yes No
23. Does your child look at your face to check your reaction when faced with something
unfamiliar?
Yes No
©1999 Diana Robins, Deborah Fein, & Marianne Barton
http://www.dbpeds.org/media/mchat
Rachelle Tyler, M.D.
Associate Clinical Professor of Pediatrics
David Geffen School of Medicine at UCLA
Participants:
Date:
Ventura County Medical Center
December 10, 2008
AUTISM
Learning Objectives
Upon completion of this session, participants will gain knowledge about the following:
1.
2.
3.
4.
The most recent incidence of Autism
The salient features of Autism
Making the diagnosis
Interventions