Autism for PCPs

Sourav Sengupta, MD, MPH

Child Fellow, Western Psychiatric Institute &

Clinic

February 14, 2012

Overview

What is autism?What is autism?

Who has autism?Who has autism?

How do we help people with autism?How do we help people with autism?

Social issues surrounding autismSocial issues surrounding autism

Resources for PCPs, families in Western PAResources for PCPs, families in Western PA

What is autism?

Social Interactionnon-verbal shared playpeer relationships social/emotional reciprocity

Communicationspoken languageconversationrepetitionimaginative/imitative play

Repetitive Behaviors

intense, restricted interestsinflexible routines, ritualsmotor stereotypiesinterest in parts > whole

On the “spectrum”…

Asperger’s DisorderAsperger’s Disorder

Social InteractionSocial Interaction

Repetitive BehaviorsRepetitive Behaviors

Not significant language, cognitive Not significant language, cognitive delays/deficitsdelays/deficits

On the “spectrum”…

Rett’s DisorderRett’s Disorder

Normal prenatal, perinatal developmentNormal prenatal, perinatal development

Normal psychomotor development through 5 monthsNormal psychomotor development through 5 months

Normal head circumferenceNormal head circumference

Deceleration of head circumference growth b/t 5-48 moDeceleration of head circumference growth b/t 5-48 mo

Loss of motor skills, replaced by stereotypiesLoss of motor skills, replaced by stereotypies

Loss of social interactionLoss of social interaction

Gait/trunk motor deficitsGait/trunk motor deficits

Severe expressive/receptive language deficitsSevere expressive/receptive language deficits

On the “spectrum”…

Childhood Disintegrative DisorderChildhood Disintegrative Disorder

Normal development until 2 yoNormal development until 2 yo

Loss of in 2+ skills < 10 yo:Loss of in 2+ skills < 10 yo:LanguageLanguage

Social skillsSocial skills

Bowel/BladderBowel/Bladder

PlayPlay

MotorMotor

Impaired in 2+: language, social, repetitive behaviorsImpaired in 2+: language, social, repetitive behaviors

On the “spectrum”…

Pervasive Developmental Disorder NOSPervasive Developmental Disorder NOS

Impairment in communication, social interaction, Impairment in communication, social interaction, and/or repetitive behaviorsand/or repetitive behaviors

Specific criteria unmetSpecific criteria unmet

Subsyndromal?Subsyndromal?

What is NOT autism?

Selective mutism (only in SELECT settings)Selective mutism (only in SELECT settings)

Anxiety/separation anxietyAnxiety/separation anxiety

Sensory Processing/Integration Disorder Sensory Processing/Integration Disorder (overlap)(overlap)

Biological Underpinnings

10x increase in siblings10x increase in siblings

Increased concordance in monozygotic twinsIncreased concordance in monozygotic twins

Multiple underlying genetic etiologic possibilitiesMultiple underlying genetic etiologic possibilities

Environment likely affects gene expressionEnvironment likely affects gene expression

No evidence for MMR relationshipNo evidence for MMR relationship

ASD + dysmorphism +/- family hx ASD + dysmorphism +/- family hx think genetic think genetic syndromesyndrome

ASD prevalence increasing

1 in 110 children in the US, increasing1 in 110 children in the US, increasing

Why?Why?

Improved awareness, diagnosis?Improved awareness, diagnosis?

Changes in diagnostic criteria?Changes in diagnostic criteria?

Service delivery for children with ASD?Service delivery for children with ASD?

Pre-term births?Pre-term births?

Environmental?Environmental?

Surveillance

Ask parents about developmental and Ask parents about developmental and behavioral concernsbehavioral concerns

Observe for any ASD signsObserve for any ASD signs

Understand family hx of ASDUnderstand family hx of ASD

Screen

Test Test allall children at 18- and 24-month visits children at 18- and 24-month visits

Numerous available – M-CHAT is free for Numerous available – M-CHAT is free for clinical use, well replicatedclinical use, well replicated

High sensitivity, low(er) specificity – follow-up High sensitivity, low(er) specificity – follow-up interview to identify false positivesinterview to identify false positives

http://www.mchatscreen.com

Quick Clinical Screen - Social

Joint attention – enjoying shared experiencesJoint attention – enjoying shared experiences

““Look at that picture/ball/duck/cool thing!”Look at that picture/ball/duck/cool thing!”

Brings a toy to parent and smilesBrings a toy to parent and smiles

Social orientingSocial orienting

– Reponse to nameReponse to name

• Pretend playPretend play

– ““Someone’s calling you on the cellphone!”Someone’s calling you on the cellphone!”– ““Pour me a cup of tea!”Pour me a cup of tea!”

Quick Clinical Screen - Language

• Diminished drive to communicateDiminished drive to communicate

• No pointing, gestures, facial expressionsNo pointing, gestures, facial expressions

• EcholaliaEcholalia

• Cannot understand simple commandsCannot understand simple commands

Medical Work-up

• Need for medical genetics eval?Need for medical genetics eval?

• Wood’s light Wood’s light tuberous sclerosis tuberous sclerosis

• Lead screeningLead screening

• Metabolic testing (vomiting, seizures)Metabolic testing (vomiting, seizures)

• Hearing evaluationHearing evaluation

Get help!

• Alliance for Infants and Toddlers!Alliance for Infants and Toddlers!

• Child Psychiatrist, Developmental Pediatrician, Child Child Psychiatrist, Developmental Pediatrician, Child Neurologist (get an ADOS!)Neurologist (get an ADOS!)

• Specialized therapist (BS, TSS, OT, cognitive/social skills)Specialized therapist (BS, TSS, OT, cognitive/social skills)

• Case ManagementCase Management

• School SystemSchool System

• Speech pathologistSpeech pathologist

Treatment

• Goals:Goals:

– Improve social and language skills (EARLY)Improve social and language skills (EARLY)

– Decrease challenging behaviorsDecrease challenging behaviors

– Support familiesSupport families

– Foster INDEPENDENCEFoster INDEPENDENCE

Treatment

• BehavioralBehavioral

– Intensive therapy (>25hrs/week) Intensive therapy (>25hrs/week) improved improved cognitive, language, life skillscognitive, language, life skills

– Applied Behavioral AnalysisApplied Behavioral Analysis

– Play therapy, FloortimePlay therapy, Floortime

– Social SkillsSocial Skills

Treatment

• Treat co-morbid conditions, medical & Treat co-morbid conditions, medical & psychiatric!psychiatric!

– ConstipationConstipation

– Pain (dental, headache, ear)Pain (dental, headache, ear)

• Medications (see handout)Medications (see handout)

– Please be careful with benzodiazepines!Please be careful with benzodiazepines!

– Melatonin 0.05mg/kg 1-2 hours before bedtimeMelatonin 0.05mg/kg 1-2 hours before bedtime

Treatment

• What about Complementary and Alternative What about Complementary and Alternative Medicine in autism?Medicine in autism?

– NormalizeNormalize

– Ask!Ask!

– Don’t judge!Don’t judge!

– Respond based on risk to health of childRespond based on risk to health of child

– Assist in navigating studies, providers, resourcesAssist in navigating studies, providers, resources

Clinical Environment

• Parent/Caretaker must accompany!Parent/Caretaker must accompany!

• Limit other children in office/exam roomLimit other children in office/exam room

• Quiet, neutral environment (ask parent)Quiet, neutral environment (ask parent)

• Developmentally- and ASD-appropriate expectations Developmentally- and ASD-appropriate expectations about level of interaction/participationabout level of interaction/participation

• Allow self-soothingAllow self-soothing

• Be flexible!Be flexible!

Pearls from Temple

• Develop child’s strengths, teach from those!Develop child’s strengths, teach from those!

• Turn-taking!Turn-taking!

• Be flexible around sensory issuesBe flexible around sensory issues

• Simple, direct, calm, FREQUENT Simple, direct, calm, FREQUENT communicationcommunication

• Be wary of low expectations!Be wary of low expectations!

Thank you!

• Questions?Questions?

• senguptas@upmc.edu