Continuity Clinic

Autism Spectrum Disorders

Modified from a conference

by Dr. Chuck Conlin

Continuity Clinic

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

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Background

• Prevalence– Estimated anywhere from 1 to 6 per 1,000

children• Is there a rise in incidence? If so why?

– Increased surveillance and detection– Unknown environmental triggers?

• Neurobiologic disorder with question of environmental triggers

• 6 to 10% recurrence rate in families

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Background

• 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

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Classification

• Autistic Disorder

• Rett’s Disorder

• Childhood Disintegrative Disorder

• Asperger’s Disorder

• Pervasive Developmental Disorder. Not Otherwise Specified

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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)

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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

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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

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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

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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

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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.

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Integration of Recommendationsfrom Guidelines on ASD

• Developmental surveillance and screening• Best screening - PARENTAL CONCERN but

lack of parental concern does not r/o disorder• Referral to community resources• 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

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Integration of Recommendations from Guidelines on ASD

• 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

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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

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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

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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)

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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