AUTISM: CHALLENGES IN SCREENING & CARE

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2:25 - 3:10pm

Autism: Screening, Diagnosis, and ResourcesSPEAKERRobert Baldor, MD

Disclosures

► Robert Baldor, MD: No financial relationships to disclose.

The following relationships exist related to this presentation:

Off-Label/Investigational Discussion

► In accordance with pmiCME policy, faculty have been asked to disclose discussion of unlabeled or unapproved use(s) of drugs or devices during the course of their presentations.

AUTISM: CHALLENGES IN SCREENING & CARE

Robert A. Baldor, MD, FAAFP

Professor, Family Medicine & Community Health

UMass Medical School

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Autism Spectrum Disorder (ASD) Goals5

1. Understand DSM-V criteria for ASD2. Formulate plans to screen children for ASD3. Construct treatment plans for individuals with ASD

Unknown Au; licensed under CC BY-NC-SA


ASD - 3 core attributes6

Impaired social interactionAbnormal Behaviors Language impairments

Unknown Au; licensed CC BY-NC-ND

2016 Prevalence of DD ↑ since 2014(3-17 years old)

Intellectual Disability ↑ 3.6%1.8% (Boys 3:1 Girls)

Developmental Disability ↑ 21% 5.76% to 6.99% (Boys 2:1 Girls)

Autism Spectrum Disorder ↑ 23% 2.24% to 2.76% (Boys 4:1 Girls)

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2016 National Center for Health Statistics

What accounts for increase?

2009 Ca study: 2/3rds of increase due to earlier diagnosis & milder cases

2013 CDC report: 2/3rds of increase due to diagnoses of children with previously unrecognized ASD

2014 Danish study: 60% of increase due to changes in reporting practices

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Hertz-Picciotto I, Delwiche L. Epidemiology. 2009 Jan;20(1):84-90; Hansen SN, et al.JAMA Pediatr . 2015;169(1):56-62

Unknown Au; licensed by CC BY-NC-ND

Genetic Etiology ?

Higher incidence (x10) among ASD siblings High concordance in monozygotic twins

Over 100 genes implicated A genetic cause identified < 20% of time

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Mefford HC, et al. N Engl J Med. 2012 Feb 23;366(8):733-43


Parent Age?

Fathers aged > 50 (vs < 30)2.2 x more likely to have a child with ASD

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Hultman CM, et al. Mol Psychiatry. 2011 Dec;16(12):1203-12

Teratogens ?

Environmental exposuresUnclear role, may interface with autism genes

Some cases traced to specific exposures In utero exposures to valproic acid associated with a 5-7x increased

risk Thalidomide & misoprostol recognized causes

Maternal smoking

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Bromley RL, et al. Neurology. 2008 Dec 2;71(23):1923-4; Christensen J, et al. JAMA. 2013 Apr 24;309(16):1696-703

SSRIs ?

A dozen epidemiological studies of neurological development in children exposed to antidepressants in utero have provided mixed results….

Unable to account for the confounding depression No clear link

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Sørensen MJ . Clin Epidemiol. 2013; 5: 449–459

Prenatal Ultrasound?

Cohort study (400 children):100 with ASD; 100 with DD200 with typical development

No significant difference in # of US (~6/pregnancy)

ASD had ↑ US depth than controlsNormal development in 1st & 2nd trimestersDD in 1st trimester

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Rosman NP, et al. JAMA Pediatr. 2018 Apr 1;172(4):336-344

Unknow

n Au; liensed by CC

BY-NC

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Unknown Au; licensed under CC BY

Vaccines….14

Original work by Wakefield Anecdotal study of 12 autistic patients reporting a

suspicion by their physicians about MMRThe Lancet retracted that work in 2004!Accused of research fraud in 2011!

Over 20 studies demonstrate no link to vaccines

DeStefano; JPeds, 163:2 , 561 - 567

2 y.o. Brandon….

Brandon’s Dad brings him in for a WCC and he requests a screen for Asperger’s syndrome as Brandon’s 6 y.o. cousin was diagnosed with that syndrome…..

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What defines Asperger’s syndrome?

Pervasive Developmental Disorders (DSM-IV)

Autistic disorder Asperger’s syndrome Pervasive

developmental disorder, not otherwise specified

Rett’s syndrome Childhood disintegrative

disorder

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Autism spectrum disorders Other

Autism Spectrum Disorders (DSM-V)

A continuum from mild to severe, rather than specific disorders A range of severity in social interactions, communication &

behavioral difficulties

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Four Criteria Must be Met

1. Deficits not accounted by a general DD 2. Abnormally intense restricted or repetitive patterns of behaviors

activities and interests3. Symptoms present in early childhood

• May not be apparent until social demands exceed limited capacities

4. Symptoms limit and impair everyday functioning

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Severity Level Graded (1-4)

Level 1 (least severe affect)

A. Without supports, social communication deficits cause noticeable impairments. Difficulty initiating social interactions, atypical responses to social overtures. May appear to have a decreased interest in social interactions

B. Rituals and repetitive behaviors cause significant interference with functioning. Resists attempts to be redirected from fixated interest

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ASD - 3 core attributes20

Impaired social interactionAbnormal Behaviors Language impairments

This Photo;Unknown Au; licensed CC BY-NC-ND

1. Impaired social skills earliest & specific sign

Three domains: Joint AttentionSocial OrientingPretend Play

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Joint Attention (sharing experiences)

Receptive smile when recognizing parent8 months follow a parents gaze when looking12-14 months will point at things (a request)18-months points at a toy and looks back

smilingAt 2 years will bring a toy to parent and

smile

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Concern if ignoring parent attempt to connect or poor eye contact

Social Interactions (Orienting/Play)

Orienting: Responds to name A 9-mo will turn in response to hearing name

Parents may wonder about hearing

Pretend Play: Observed in the office An 18-month-old child will normally speak ‘baby talk’ into a

parent's cell phonea child with autism may just push the buttons repeatedly

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2. Behaviors (less prominent) 24

Stereotypic movements flapping; rocking; twirling

Difficulty with changes in routineobsessive

Repetitive use of objectswww.autismspeaks.org/video/glossary.php

a side-by-side comparison of typically developing children and those with autism

3. Communication

Delayed or odd language common Less specific early sign Diminished intrinsic drive to communicate

Speech, when present, is often echolalia Conversations one-sided or solely focused on an area of intense

interest

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Red Flags (Am Acad Neurology)

No babbling, pointing by a year No single word by 16 months Lack of 2 spontaneous word by 2 years Any loss of language or social skills at any age

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Symptoms present in early childhood

……but may not become fully manifest until social demands exceed limited capacities.

Interpret speech literally no understanding of idioms, jokes or lying

Generally loners, uncomfortable in groups Lack empathy, cannot make friends, do not chat

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12 month old Danny….

Danny’s mom is concerned about Autism because although he is walking ok and feeding himself finger foods, he ‘babbles a lot and only says ‘Momma’; additionally he cries very easily around strangers……

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Are you concerned?How do you screen for Autism in your office?

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No real physical findings…30

25% increased head circumferenceIf present accelerated growth in 1st

year

Functional MRI has abnormalities in areas that deal with facial recognition

Screening31

No validated ASD tools for < 6 months

AAP recommends screening 9, 18, 24, 30 mos

Whenever a concern is raised

Validated tools (parental completion) to screen for Developmental Delay

Tool Items Ages Minutes to complete

Ages & Stagesagesandstages.com

40 1-66 months 10-15

Child Development Reviewchilddevreview.com

32 18-60 months 15-20

Parents Evaluation of Development Statuspedstest.com

10 Birth-7.11 years

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Vitrikas K, et al.Am Fam Physician. 2017 Jul 1;96(1):36-43

M-CHAT - a good office ASD screen33

Validated for 16-30 months ageFilled out about how the child usually acts85% sens/93% specPPV about 60%

Free: www.firstsigns.org

Robins, DL, et al. J of Autism and Developmental Disorders. 2001; 31(2): 131-144.


Rapid Interactive Screening Test for Autism in Toddlers (RITA-T) UMass developed tool (Dr. Choueiri) 3-hour training 9 interactive activities (7-10 minutes to complete)

www.umassmed.edu/AutismRITA-T/about-the-test/

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© 1999Robins, Fein, & Barton

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Positive screen if > 2 critical questions or > of any 3 questions are failed

2 y.o. Timothy

Timothy has just failed the MCHAT at his 2 y.o. WCC …….36

What do you do now??

Following failed screen….

Service Evaluation Who?

Medical Exam • Vision & Hearing• Metabolic panel; Lead level• As indicated: genetics, iron, EEG,

Head CT

You!

Diagnostic Developmental Tests

• Bayley Scales for Development• Woodcock-Johnson Psycho-

Educational Battery• Stanford-Binet Intelligence Scale• Battelle Developmental Inventory• Brigance Assessment

Early Intervention (< 3)SPED (school-aged)Developmental pediatricianDevelopmental psychologist

Intervention • Speech/language therapy• Behavioral therapy

EI, SPED programsTargeted therapist

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Vitrikas K, et al.Am Fam Physician. 2017 Jul 1;96(1):36-43


Early Intervention Referrals….

Multidisciplinary team evaluation to see if child qualifies for services

Utilize standardized evaluation Early Intervention Developmental Profile (“Michigan”)Battelle Developmental Inventory-2 (“BDI-2”)

Mass insurers required to pay for diagnosis and treatment of ASD

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http://massfamilyties.org/info/directory.php

Treatment - Behavioral Therapy

Intensive therapy (25 hrs/week) initiated early more likely to improve cognitive, language, adaptive skills

Sensory Tactile therapy

Applied Behavioral Analysiswww.centerforautism.com

Early Start Denver Program SJ Rogers and G Dawson

TEACCHwww.teacch.com

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Meyers SM, Johnson CP. Pediatrics Nov 2007, 120 (5) 1162-1182

Autism ‘Cure’ ??

Early Start Denver Model 48 children (18-30 months) with ASD RCT

ESDM (20.4 hrs/wk)Usual community care (18.4 hrs/wk) x 2 years

EEG at outcomeNormal EEG response to faces vs objects

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Dawson g, et al. J Am Acad Child Adolesc Psychiatry. 2012 Nov;51(11):1150-9

Early Intensive Behavior Intervention (EIBI)

Cochrane systematic review 2018 Weak evidence that EIBI may be effective

Small studies, weak study design Mostly non-randomized

Conclusion: ‘Additional studies using rigorous research designs are needed ….’

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Reichow B, et al. Cochrane Database Syst Rev. 2018 May 9;5:CD009260


Pets?

Having a pet after the age of 5 demonstrated improvement in offering to share and offering comfort…..

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Grandgeorge M, et al. PLoS ONE 7(8): e41739

No consistently proven benefit….

Detoxification/chelation Hyperbaric O2 IV immune globulin B6 B12 Omega-3s Magnesium Dimethylglycine Secretin Carnitine

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Protective Effect?

Observational Study 27K Israel mothers (45K children) Risk of ASD significantly ↓ with folic acid and/or MVI

Before pregnancy RR 0.39During pregnancy RR 0.27

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Levine SZ, et al. JAMA Psychiatry. 2018;75(2):176–184

Dietary restrictions ?

Gluten-free, casein-free diet A randomized controlled study (35 patients) 16 outcomes

measured Improved ability to communicate /interact sociallyNo improvement in other measures

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Prognosis….

Dependent on severity of Dx & level of ID Poor prognosis if…. Regression (language or other development)

Usually between 15-24 months age (25%) Can be gradual or sudden

Lack of social interaction by age 4 Lack of speech by 5

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Many children do improve

Developmental gains are common A 2008 review of Outcome Studies noted that 3-25% of

various cohorts lose the diagnosis Behavioral regression during adolescence occurs

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Fein D, et al. J Child Psychol Psychiatry. 2013 Feb;54(2):195-205; Stefanatos GA. Neuropsychol Rev. 2008 Dec;18(4):305-19

Medications ….

Only for behaviors that impair function! Risperidone FDA approved for irritability and SIB in children with

ASDs Fluvoxamine, fluoxetine for repetitive behaviors Methylphenidate for impulsivity, inattention Clonidine, guanfacine (centrally acting a-gonist) for impulsivity,

outbursts, hyper-arousal

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LeClerc S, et al. P T. 2015 Jun; 40(6): 389–397

Ongoing Care…..

High prevalence for Anxiety, OCDBehavioral approach

Sleep disorders are commonMelatonin, sleep hygiene

Gastrointestinal issues are universalGERD, Constipation

Epilepsy riskOnset in older adolescents

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Unknown Author; licensed under CC


Resources50

Parents:Autism-pdd.netAutism-society.orgAutism speaks.org ‘First 100 Days Kit’ can help families arrange and advocate

for effective early treatment

Providerscdc.gov/ncbddd/actearly/hcp/index.htmlwww.firstsigns.org

Summary - 3 core attributes51

1. Impaired social interaction2. Language impairments3. Abnormal Behaviors

Summary52

Screen all at 18 & 24-month office visits. Refer for early intensive behavioral therapy to

improve cognitive, language & adaptive skills. Treat associated medical and psychiatric

conditions to maximize overall functioning.

THE END…….53

AUTISM: CHALLENGES IN SCREENING & CARE

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