Autism - MH

Question 1

Autism Spectrum Epidemiology

Answer 1

• Current prevalence: 6 per 1000 or 1 in 166
• Male : Female Ratio: 2:1 to 6.5:1, even higher in high-functioning ASD and Aspergers
• If an older sibling has ASD, the recurrence risk is 5-6%

Question 2

ASD Key Features

Answer 2

• Qualitative impairment in reciprocal social interaction
• Qualitative impairment in communication
• Restricted, repetitive, and stereotyped patterns of behavior, interests, and other activities

Question 3

ASD Etiology

Answer 3

• Mainly genetic in origin, and genetic mechanisms are complex
• Environmental factors may modulate phenotypic expression. Probably during fetal brain development.
• Implicated genetic sites on chromosomes 2, 3, 6, 7, 13, 15, 16, 17, 22

Question 4

ASD Subtypes

Answer 4

Idiopathic: meet criteria for ASD with no comorbid medical condition known to cause autism

• Most ASD
• Less likely to have GDD/MR or dysmorphic features

Secondary: have an identifiable syndrome or medical disorder known to be associated with autism
-Less than 10% of ASD

Question 5

Secondary ASD

Answer 5

• Fragile X
• Tuberous Sclerosis
• Phenylketonuria
• Fetal Alcohol Syndrome
• Angelman Syndrome
• Rett Syndrome
• Smith-Lemli-Opitz Syndrome

Question 6

Myths about ASD

Answer 6

The child with autism…

• Is not affectionate
• Does not form attachments
• Never makes eye contact
• Does not communicate
• Engages in self-stimulatory and repetitive behaviors all the time
• All children with repetitive behaviors have autism
• All children with poor social skills have Asperger syndrome

Question 7

Role of Primary Care

Answer 7

• ASD is presumably present at birth, with onset of symptoms before 36 months
• Accurate diagnosis possible at 18-24 months, maybe earlier (Early Sibs studies)
• Parents first voice concerns around 18 months, but diagnosis is typically not until 3 years or older
• Huge potential benefits of early treatment

Question 8

Surveillance

Answer 8

Surveillance factors

• Sibling with ASD
• Parent concern, inconsistent hearing, unusual responsiveness
• Other caregiver concern
• Pediatrician concern
• If 2 or more, refer for EI, ASD Evaluation, and Audiology simultaneously
• If 1 and child at least 18 mos old, use screening tool
• When screen is positive, refer for EI, ASD Evaluation, and Audiology

Question 9

Screening Tools

Answer 9

• Modified Checklist for Autism in Toddlers (M-CHAT)
• For 16-48 months
• Sensitivity: 85% -Specificity: 93%
• Questionnaire completed by parent
• 5-10 minutes to complete (parent)
• Simple Scoring
• Download form and scoring
• MCHAT Follow-up Interview: clarifying questions that can be used to increase positive predictive value of a positive screen
• Translations of MCHAT in 14 languages

Question 10

Diagnostic Tools

Answer 10

• CARS (Childhood Autism Rating Scale): For > 2 yrs. old; 15-item, direct observation; 5-10 minutes
• ADOS (Autism Diagnostic Observation Schedule): For toddlers to adults; direct observation, 30-45 minutes
• ADI-R (Autism Diagnostic Interview): For mental age > 2 yrs.; structured interview; 1.5 – 2.5 hours

Question 11

Treatment Goals

Answer 11

Minimize core features

Maximize functional independence

Maximize quality of life

Maximize family function

Question 12

Comprehensive Treatment

Answer 12

• Intervention as soon as diagnosis suspected; do not wait for definitive diagnosis
• 25 hours per week, 12 months per year in “systematically planned, developmentally appropriate educational activities”
• Low student:teacher ratio
• Inclusive experience with typically developing peers

Question 13

Educational Interventions

Answer 13

• Applied Behavioral Analysis
• Structured teaching – TEACCH
• Developmental
• Relationship focused
• Speech and Language Therapy, including use of augmentative and alternative communication
• Social Skills Instruction – joint attention
• OT (Sensory Integration) Therapy – evidence base not yet established

Question 14

Common Behavioral Issues

Answer 14

• Disruption/aggression 15-64%
• Self-injurious 8-38%
• Eating 25-52%
• Sleeping 36%
• Toileting 40%

Question 15

Behavioral Treatment

Answer 15

Positive Behavioral Support

• Proactive arrangement of the physical environment to prevent occurrence of problem behavior
• Routine curriculum incorporates social skill development
• Functional behavioral analysis used for individualized behavior management plans

Question 16

Medical Management

Answer 16

• Challenges in routine health care due to difficulties with social interaction, communication, and negotiating a new and unfamiliar environment
• Average visit requires twice as much time as for a child without an ASD
• Strategies in the office to promote familiarity

Question 17

Associated Medical Conditions

Answer 17

• Gastrointestinal: chronic constipation/diarrhea, recurrent abdominal pain. Studies inconsistent, with rates of 9% to 70%
• Seizures: 11 – 39%. More likely with co-morbid severe global delays and motor deficits.
• Sleep problems

Question 18

Psychopharmacology

Answer 18

• Goal is to minimize core symptoms and associated behaviors, and facilitate interventions.
• Be sure environmental and behavioral strategies are in place
• Pharmacotherapy is not the primary treatment

Question 19

Complementary & Alternative Medicine

Answer 19

• 52 – 92 % of parents of children with autism report using CAM for their children
• NIH budget for CAM research - $120M
• PCP needs to: be knowledgeable, provide balanced information, maintain communication, help families know how to evaluate information, evaluate CAM studies by clinical research standards