Transcript Autism - RAIN National Public Internet

Autism
Rachelle Tyler, M.D., M.P.H.
Associate Professor of Pediatrics
Developmental Studies Program
Department of Pediatrics
David Geffen School of Medicine at UCLA
Case Presentation
Birth History:
Female twin A of a 32-week gestation. Mother was 31years old at the time of the
pregnancy. Mother had good prenatal care. She had placenta previa 27 weeks
into the gestation. Mother was hospitalized until the twins were born.
The twins were delivered by C-section as mother continued to have contractions
and vaginal bleeding. The infant’s Apgars were 8 and 9. The infant remained in the
NICU for 6 weeks. She was treated for RDS, had apnea of prematurity, anemia of
prematurity, and some feeding intolerance. She was discharged home in good
health.
Case Presentation
Twenty-One Months: History
She was eating well, had no problems with various textures of food,
and was growing well. Her immunizations were up to date and she
had a negative ROS.
Her parents were concerned about her being “hyposensitive” She
liked to put objects in her mouth and would pick up lint off the floor
and eat it. She was receiving occupational therapy for the
hyposensitivity”. She had 20 to 30 words, but she did not consistently
respond to verbal commands given to her by her parents.
Case Presentation
Twenty-One Months: Exam
She made intermittent eye contact with the examiner, but showed
minimal wariness of the examiner as a stranger. She was pleasant,
active, easily distracted by the noises in the clinic (e.g. other children
crying) and did not remain on task for any significant periods of time.
She showed no interest in language items and did not respond to
verbal commands given to her by the examiner or her parents. She
was scheduled for a follow-up appointment for 2-3 months.
Case Presentation
Twenty-Four Months:
History
She continued to have no major medical problems. Her
parents reported that she had about 300 to 400 words and
that she spoke in phrases. They felt that she was responding
to questions more so than she had been. They felt that her
expressive language was ahead of her receptive language.
She was not engaging in shared attention with them. She
was very active and they were concerned about AD/HD.
Case Presentation
Twenty-Four Months:
Exam
She showed minimal interest in any of the toys that
were presented to her. She spent most of the time
aimlessly wandering around the room. She did not
respond to her name being called either by the
examiner or her parents. She made minimal eye contact
with the examiner or her parents.
Case Presentation
Autism
Impairments in:
Reciprocal social interactions
Verbal and non-verbal communication
History of repetitive behaviors
Autism
Clinical Definition
• Heterogeneous neurodevelopmental disorder
characterized by impairments in:
– Reciprocal social interactions
– Verbal and non-verbal communication
– The range of activities or interests
Autism Spectrum Disorder
(Prevalence)
•
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Prior 1985: 5 to 10/10,000
Mid-nineties: CDC received calls about
increasing prevalence
Recent: 1 in 150 children
Four males: one female
Autism Spectrum Disorder
• Postulates on increased prevalence
– Greater awareness
– More screening and evaluation
– Broadened criteria (Autism, Autism Spectrum
Disorder, Asperger)
– Labels get services
– Assortive mating
Autism Spectrum Disorder
(Etiology)
• Genetics—likely a polygenic disorder resulting from
gene-environment interactions
• Possibly chromosomal “hot spots” with loci on
6,7,13,15, 16, 17, 22.
• Possible various environmental triggers in those who are
genetically predisposed have not been identified
Autism Spectrum Disorder
(Genetic Predisposition)
• More common in families who have a history of other psychiatric
disorders (e.g. obsessive compulsive disorder, bipolar disorder)
• More common in families with another child with autism
Five times greater risk for another child to have autism
Fifty percent chance if two children in family have autism
Sixty percent risk in dizygotic twins
Ninety percent risk in monozygotic twins
• More common in families with other family members who have
mild communication and social impairment problems
Autism
(Diagnosis)
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Onset of symptoms prior to 3 years of age
Most commonly diagnosed between 2.5 to 5
years of age
Core symptoms:
Impaired social interactions/functioning
Impairment in communication
Repetitive behaviors/limited repertoire of
activities
Autism
(Impaired Social Interactions)
•
Minimally initiates activity with others
(especially other children)
•
Minimally responds appropriately when
approached by other children
•
Uses others as objects
Autism
(Impairment in Communication)
•
•
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Does not talk by 18 months
Regression of language skills between 1624 months
Minimally orients to name being called
Echolalic speech without comprehension
of what they are saying
Words and phrases are out of context
Autism
(Restricted Activities/Interests)
• Ritualistic Behaviors (e.g. hand-flapping)
• Intolerant of changes in daily routine (e.g.
changes in daily traveling routes)
• Difficulty with transitions (e.g. from outside to
inside)
Detection of Developmental Disabilities
in Children
• Approximately sixteen percent (16%) of children
have developmental disabilities
• Less than thirty percent (30%) are detected
• Subtle disabilities are difficult to detect at
younger ages
• Detection must be done early for intervention to
occurs
Mandate on Developmental Screening
• Title V of 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”
Mandate on Developmental Screenings
• AAP Policy Statement: July 2006
– Identification of infants and young children with
developmental disorders in the medical home
– Developmental assessment in the medical home
• Surveillance
• Screening
• Evaluation
Mandated Screening Intervals
• General Development:
Nine months
Eighteen months
Thirty months
Four years
Any time that a parent/guardian has a concern
• Autism:
Eighteen months
Twenty four months
Thirty months
Screening Tools
• Formal Screening (General Development):
PEDS (Parent’s Evaluation of Developmental Status)
Ages and Stages
Denver Developmental Screening
• Formal Screening Tools (Autism):
CARS (Childhood Autism Rating Scale)
MCHAT (Modified Checklist for Autism in Toddlers)
CHAT (Checklist for Autism in Toddlers)
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
Autism Spectrum Disorder
(Differential Diagnosis)
• Mental retardation
Socially interactive at cognitive level
Language skills are more related to cognitive age
• Chromosomal disorder
Fragile X
Slow to normal development
Regression after 1 year of age
Rett’s syndrome
Deceleration in head growth
Neurodegenerative
Autism Spectrum Disorder
(Diagnosis)
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Complete history with focus on time of onset and
severity of difficulties
Physical exam with focus on ruling out dysmorphic
features (e.g. epicanthal folds, short
fingers)
Rule out hearing deficit—no more than 20db loss
Rule out visual deficit
Laboratory tests (chromosomal analysis if dysmorphic
features present)
Autism Spectrum Disorder
(Evaluations)
Evaluation Tools:
•
Bayley III
•
ADOS (Autism Diagnostic
Observation Schedule)
•
Wechsler Intelligence Scale for
Children (WISC-III)
Autism Spectrum Disorder
• High functioning
Normal cognition
Communication may be good, but
concrete
Asperger syndrome—normal or
close to normal language
• Low functioning
Low IQ (<70)
Poor communications skills
Repetitive behaviors
Autism Spectrum Disorder
(Associated Disorders)
•
Problems with sensory integration (e.g. textures,
everyday sounds)
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Seizures—20 to 30% by adulthood
•
Tourette’s syndrome
Autism Spectrum Disorder
(Management)
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Life-long
Goal—work towards as much independence as
possible
Early intervention
Specific interventions—speech/language therapy,
occupational therapy, feeding therapy, applied
behavioral analysis, social skills training
Parent education, counseling, and support groups
Autism Spectrum Disorder
(Interventions)
• Behavioral
– Applied behavioral analysis
– Floor-time
– Pivotal response
• Speech/language therapy
– Individual
– Group
• Occupational therapy
– Individual
– Group
Autism Spectrum Disorder
(Medications)
Antidepressants for anxiety symptoms
Anti-psychotics for severe behavioral problems
Stimulants to decrease hyperactivity
Autism Spectrum Disorder
(Resources)
• Regional Centers
• Local School Districts
• Community Professionals (e.g. psychiatrists,
psychologists, social workers, occupational
therapists, speech therapists)
Autism Spectrum Disorder
(Prognosis)
Good prognosis:
Speech present prior to 5 years of age
Performance IQ over 70
Highly structured environment
Case Presentation
Fifty-Eight Months:
History
Had been attending a small private preschool setting with a
one-on-one with her and had been receiving in-home
behavioral interventions. She had difficulty following group
instructions. She was easily distracted and had frequently
had to be called back to task. She was able to keep up with
the school work that was being presented to her.
Case Presentation
Fifty-Eight Months:
Exam
She made good eye contact with the examiner and
her mother. She engaged in social referencing with
her mother and the examiner. She was very active
and frequently had to be called back to task. She
spoke in complete sentences and her words were generally
in context. Her overall developmental skills were within
the normal limits
Autism Spectrum Disorder
Questions?