Autism Spectrum Disorders (ASD): Identification & Management including “Co-Morbidities”

1. Autism Spectrum Disorders (ASD): Identification & Management including “Co-Morbidities” Chuck J. Conlon, MD, FAAP cconlon@cnmc.org Director of Developmental Pediatrics Children’s National Medical Center

2. ASD Objectives • Discuss early indicators & importance of early identification • Explain current practice guidelines from AAP & AAN • Discuss medical management of common behavioral disturbances (co-morbidities) in children with ASD

3. Autism Spectrum Disorders: Overview I • Prevalence 1 to 2….to 6 per 1,000 children • Is there a rise in incidence? If so why? • Neurobiologic disorder with question of environmental triggers • First described in the 1940s; Drs Kanner & Asperger • 6 to 10% recurrence rate in families

4. Autism Spectrum Disorders: Overview II • Characterized by deficits in 3 domains i.e., communication, social interactions, restricted, repetitive & ritualistic behaviors • Must meet DSM IV Diagnostic Criteria • Onset prior to 3 years of age for Autism • Rule out medical causes

5. Autism Spectrum Disorders: Classification • Autistic Disorder • Rett’s Disorder • Childhood Disintegrative Disorder • Asperger’s Disorder • Pervasive Developmental Disorder. Not Otherwise Specified

6. Early Indicators of AutismSocial Interaction “Flags” • Less responsive to social overtures i.e., hard to reach • Less participation in reciprocal play • Less “showing off” for attention • Less imitation of the actions of others e.g., waving good-bye • Less interested in other children (self-directed play)

7. Early Indicators of AutismCommunication Deficits • Less communication to direct another person’s attention e.g., hold up object to show • Less use of gestures i.e., proto-imperative & proto-declarative pointing • Less use of eye contact during interactions • Inconsistent response to sounds

8. Early Indicators of AutismRepetitive & Restricted Behavior • Less functional play, especially with dolls or stuffed animals e.g., feeds with a spoon • Less imaginative play….often imitative from favorite videos or books • Repetitive motor behaviors e.g., spinning hand flapping, finger flicking, “sifting” • Unusual visual interests

9. Early Indicators of AutismRed Flags (AAN, 2000) • No babbling, pointing or other gestures by 12 months • No single words by 16 months • No meaningful 2-word phrases by 2 years • ANY loss of ANY language or social skills at ANY age • www.firstsigns.org

10. Autism Spectrum DisordersBenefits of Early Id • Early identification leads to early intervention • Helps families to understand their child and advocate for services • Early intervention can lead to improved cognitive function, communication, as well as enhanced peer interactions and decreased behavioral difficulties • Early intervention study for children with ASD < 3 years: Dr Landa at 1-877-850-3372 or e-mail reach@kennedykrieger.org

11. ASD: Published Guidelines • AAP; Committee on Children with Disabilites 2001 (Pediatrics, 107(5): 1221-26) • American Academy of Neurology & Child Neurology Society (Filipek et al., 2000 Neurology, 55: 468-479) • CAN Consensus Statement (Geschwind et al., 1998, CNS Spectrums, 3: 40-49.

12. Integration of Recommendationsfrom Guidelines on ASD I • Developmental surveillance and screening • Best screening - PARENTAL CONCERN but lack of parental concern does not r/o disorder • Referral to community resources i.e., ITP/PIE/CF • Diagnosis best by multidisciplinary team BUT availability is limited & waiting lists are long • Single subspecialty providers e.g., dev peds, child neurologist, child psychologist/psychiatrist

13. Inegration of Recommendations from Guidelines on ASD II • Evaluation of cognitive and adaptive skills • Comprehensive eval of communication including higher order language function i.e., semantic & pragmatic language (Infant Rosetti; CASL or Comprehensive Assessment of Spoken Language) • Audiological evaluation • Other medical work-up

14. ASD: Medical Evaluation • Genetic studies: high resolution karyotype, DNA probe for Fragile X, FISH studies in children with MR, dysmorphic facies or + FH • Metabolic screening: plasma amino acids, urine organic acids, urine metabolic screen (as above and/or lethargy, cyclic vomiting, early seizures) • Others….lead, etc • EEG if regression, seizures, significant staring spells or child is nonverbal • CT scan or MRI usually not indicated even with megalencephaly

15. ASD: Role of Primary Care Provider • The Medical Home (Pediatrics 2002, 110: 184 to 186); care coordination/”screen” • Provide early identification & referral to community based programs for treatment • Referral to medical subspecialists for further evaluation, diagnosis & treatment • Provide parent education and support

16. ASD: Educational Programs • Should facilitate functional communication, social skills, learning and improve behavior • Vary in philosophy, curricula and strategies • “Autism Programs” – reduced ratio classes to work on joint attention, imitation, etc. • TEACCH- classroom & parent training • Applied behavioral analysis, discrete trials (Lovaas method)

17. ASD: Additional Treatments • Behavioral support (ABCs of Behavior) • Social & pragmatic language skills training • Family support, i.e. education, respite, parent groups • Medications • Complimentary & alternative interventions

18. ASD: Family Support • Respite options in the community e.g., McLean Bible Church Saturday program, CARD, Autism Society of America or ASA (parent groups, “Advocate”, etc.) • Websites • ASA: www.autism-society.org • Families for Early Autism Tx: www.feat.org • Yale Child Center: info.med.yale.edu/chldstdy/autism • www.aspergersyndrome.org

19. ASD: Medication Management • Identify target symptoms or indications • Need for Functional Behavioral Analysis • Research is VERY limited/small sample size • Medication responsive problems • “Attention” disorder; internal or external • Anxiety & obsessive compulsive symptoms • Aggression/tantrums/self-injurious behaviors • Sleep difficulties/ Appetitie or feeding issues

20. ASD: Hyperactive/ADHD Sxs • Overactivity, inattention, impulsivity – not universal • Heterogenous response to stimulants • Subset will show increased irritability, hyperactivity, stereotypic behaviors & agitation (adverse events are short lived) • Start very low, titrate slowly

21. ASD: Hyperactive/ADHD Sxs • Stimulants (RUPP study underway studying MPH) e.g., concerta 18mg: focalin 1.25 to 2.5 mg; metadate CD 5 to 10 mg, etc • Alpha adrenergic agonists e.g., clonidine 0.025mg 2 to 3x/day; tenex 0.25 to 0.5 mg qhs…then bid • Strattera 0.5 mg/kg/day & titrate slowly • Others: atypical/typical antipsychotics, anafranil, naltrexone, wellbutrin

22. ASD: Anxiety/Perseveration(OCD) • SSRIs e.g., luvox, prozac, zoloft, celexa, lexapro, paxil as well as anafranil • Luvox in adults (DB/PC) reduced repetitive thoughts, behaviors, & aggression; may improve language/social skills – 6.25 to 12.5mg & titrate up • Open-label trials: prozac, zoloft, buspar • Subset will have increased activity/impulsivity • Anxiolytics: ativan (dental work), xanax

23. ASD: Disruptive & Irritable Behaviors • Tantrums, aggression, self-injury, agitation, screaming, rigidity • Atypical antipsychotics: risperdal, zyprexia, seroquel, geodon, abilify • McCracken et al (NEJM;2002;347:314-21) • Risperdal improved behaviors in 69% vs placebo in 11.5%; extrapyramidal sxs/tardive dyskinesia rare unless on medicationfor many years • Watch weight! Monitor FBS/HgbA1C/lipids • Start 0.25 mg 1 to 2X/day & titrate

24. ASD: Sleep • Importance of developing good sleep “hygiene” or routine • Medications as an adjunct • Antihistamines such as Benadryl • Other meds: clonidine (0.025 – 0.05mg), remeron (7.5mg), trazodone (12.5mg) • Melatonin 0.5 mg (physiologic dose) • Increase by 0.5 mg every 4 to 5 nights up to 3 - 6mg

25. ASD: Appetitie/Feeding Issues • Often behaviorally based on color, texture, smell • Prevent food “jags” i.e., zip lock bags, vary food preparations, etc. • Appetite enhancer: periactin 4mg qhs to 4mg 2 to 3x/day • Appetitie suppressor: topamax 7.5 to 15 mg

26. ASD: Complimentary Interventions I • Anecdotal studies, single-subject trials,nonrandomized designs & non-placebo-controlled studies • Vit B6 and Mg –? sensory neuropathy • DMG/TMG (Di-/Trimethylglycine) • Vit C – inhibits central DA; dec stereotypies • Vit A – improve immune function

27. ASD: Complimentary Interventions II • Casein and gluten free diets i.e., “Special Diets for Special Kids by Lisa Lewis; http://members.aol.com/autismndi • Secretin – 6 clincal trials, PC – no effect • Chelation – DSMA has liver & kidney potential toxicities • Auditory integration therapy • MMR