1. AUTISM SPECTRUM DISORDERS (ASDS) Robert A. Baldor, MD, FAAFP Professor, Family Medicine & Community Health UMass Medical School 2.

1

AUTISM SPECTRUM DISORDERS (ASDS)

Robert A. Baldor, MD, FAAFP

Professor, Family Medicine & Community Health

UMass Medical School

2

Our Goals Today3

At the end of this session you will be able to:1. Compare the characteristic symptoms of the three types of Autism Spectrum Disorders2. Formulate plans to screen children for developmental delays, including ASDs, particularly in situations where parents request an assessment3. Prepare to address parental concerns about vaccine safety and its relation to ASDs

Persuasive Developmental Disorders

Autistic disorder Asperger

syndrome Pervasive

developmental disorder, not otherwise specified

Rett’s syndrome Childhood

disintegrative disorder

4

Autism spectrum disorders Other

Prevalence5

Prevalence of ASDs about 0.9% 4x more common boys than girls Slowly rising

true increase in disease? increased societal awareness of ASDs? changing diagnostic criteria? better access to educational services?

An epidemic??6

• Increased awareness & more case finding

• 70% with ASD had co-morbid MR earlier• Only 30% also have MR in 2007 studies

• Likely many with milder symptoms had not received this diagnosis in the past

• Epidemiologic study in Calf concluded that early age of diagnosis & milder cases accounted for > 2/3rds of increase

Gernsbacher 2005; Fombonne 2006,;Shattuck 2006,; Taylor 2006; Atladottir 2007; Hertz-Picciotto 2009

Genetic Etiology ?7

Higher incidence (x10) among ASD siblings

High concordance in monozygotic twins Increased frequency in other genetic

disorders (Fragile X - 20%; tuberous sclerosis)

Environmental exposures Unclear role, may interface with autism

genes

? In the genes8

A genetic cause can be identified 20% of time

Unknown cause in the remaining 75% to 80%

Genetic studies have R/O a single gene defect

Genetic basis likely mirrors that of MR many syndromes, each individually

genotypically rare, but phenotypically consistent with autism

Monaco & Bailey 2001

Teratogens ?9

Some cases traced to specific exposures In utero exposures to valproic acid

associated with a 7x increased risk Thalidomide & misoprostol recognized

causes Brazil studies of women misusing

misoprostol in unsuccessful attempt to terminate during early pregnancy

Bromley et al 2008

Vaccines ?10

Epidemiologic studies have not demonstrated an association between autism and exposure to thimerosal (which contains mercury)

Nor the measles, mumps, and rubella vaccine (which never contained thimerosal)

Vaccines….11

Original work by Wakefield et al, disproved Anecdotal study of 12 autistic patients reporting

a suspicion by their physicians about MMR The Lancet retracted that work in 2004!

Accused of research fraud in 2011! The resulting decreased use of

immunizations has lead to outbreaks of measles with childhood deaths

IOM Safety Review Committee 2001; Jansen 2003; DeStefano 2004; IOM 2004; Taylor 2006; Schechter 2008;Offit 2008

In Japan, MMR introduced in 1989, but the program terminated in 1993

Honda. J Child Psychology and Psychiatry 2005 12

Preventable Outbreaks ……13

2010 Mumps outbreak affects ~ 1,500 in NY No deaths but 19 hospitalization pancreatitis (5 cases) aseptic meningitis (2 cases) deafness (1 case)

2010 Pertussis outbreak > 4,000 cases in California 9 infant deaths linked to outbreak

Is it the acetaminophen????

Recent question that it is the use of acetaminophen after the immunization that causes the problem…..

2008 study in Autism (83 parents on-line survey) concluded that children receiving acetaminophen after MMR were significantly more likely to develop ASD than those given ibuprofen

14

Autism DSM IV4 Criteria15

A. Six or more items from:(1) Impairments in social interaction(2) Impairments in communication (3) Repetitive, stereotypic patterns of behavior, interests, and activities

B. Delays or abnormal functioning in > 1 of the following, with onset prior to age 3: (1) Social interaction (2) Language as used in social communication (3) Symbolic or imaginative play

C. The disturbance is not better accounted for by Rett’s disorder or Childhood Disintegrative Disorder (Heller’s syndrome)

Aspergers (Asperger 1944)

16

Relatively normal language but all other DSM-IV criteria for autism met• May have mild speech delay or atypical

speech IQ must be in the normal range

• Limited interests• May be preoccupied with 1 domain

(weather, cars) Clumsiness is common

Aspergers17

May go unrecognized till school Interpret speech literally

no understanding of idioms, jokes or lying Generally loners, uncomfortable in

groups Lack empathy, cannot make friends, do

not chat Maintain routines & follow strict rules

Aspergers18

Whether Asperger syndrome is phenotypically the high end of the autism spectrum or a discrete entity is unclear

Pervasive Developmental Disorder - NOS

19

Autistic symptoms but do not meet all 3 autism criteria

Often used as tentative diagnosis for younger children or before diagnostic evaluations are completed

Rett’s disorder20

Mostly females Deterioration in milestones and growth

Loss of purposeful hand movements Loss of verbalization

Poor coordination, ataxia Early seizures

Childhood disintegrative disorder (Heller's syndrome)

21

Normal development to age 2 Over next few months, child deteriorates in

intellectual, social, and language functioning

Unknown etiology

ASDs22

3 core attributes Impaired social interaction Language impairments Abnormal Behaviors

Typical presentations Delayed speech or challenging behavior

before 3 Some level of mental retardation

Red Flags (Am Acad Neurology)

23

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

ASDs - 3 core attributes24

Impaired social interaction Language impairments Abnormal Behaviors

Impaired Social Interactions25

Lack of social skills the earliest & specific sign

3 areas: • Joint Attention• Social Orienting• Pretend Play

Social Interactions/Joint Attention

26

The desire to share experiences with others 8 months follow a parents gaze when looking 10-12 months will follow pointing 12-14 months will point at things (a request) Receptive – smile when recognizing parent Concern if ignoring parent attempt to connect

Poor eye contact

Joint Attention27

Declarative pointing serves the social purpose of sharing

Imperative pointing serves to meet the child’s need

Engaging in joint attention An 18-month old will point at a toy and look back

smiling A 24-month old will bring a toy to his parent and

smile A 24-month old who brings a jar of bubbles to his

mother so that she will open it is not exhibiting joint attention

Social Interactions/Orienting28

Responds to name Easily evaluated social skill milestone

A 12-month-old will turn and look in response to hearing name Parents may wonder about hearing Hearing seems to be more attentive to

environmental noises, not to voice• If absent, consider autism A child with autism may rarely or only

fleetingly look, even after repeated attempts

Social Interactions/Pretend Play

29

Play skills can also be observed in the office

An18-month-old child will normally speak ‘baby talk’ into a parent's cell phone a child with autism may push the buttons

repeatedly, but will not imitate speaking into the phone in the manner in which it should be used

ASDs - 3 core attributes30

Impaired social interaction Language impairments Abnormal Behaviors

Communication31

Delayed or odd use of language is common, but a less specific early sign a diminished intrinsic drive to communicate

Speech, when present, is often repeated from what was just heard (i.e., echolalia)

When conversations do occur, tend to be one-sided or solely focused on an area of intense interest

Communication concerns32

At 6 months infants should babble By 9 months should speak jargon (e.g.,

multiple syllables with inflection) Speech delays at 18 to 24 months Difficulty understanding simple

commands or identifying body parts

ASDs - 3 core attributes33

Impaired social interaction Language impairments Abnormal Behaviors

Behaviors34

Behaviors are less prominent than social and language impairments • Stereotypic movements• Repetitive use of objects• Difficulty with changes in routine

www.autismspeaks.org/video/glossary.php a side-by-side comparison of typically

developing children and those with autism

Behaviors35

Obsessions/compulsions Repetitive, non-functional behaviors

Hand flapping; rocking; twirling Lining up objects – only playing with

components (e.g. wheels on a truck) Hypersensitivity – tactile Poor coordination

No real physical findings…36

25% increased head circumference If present accelerated growth in 1st year Functional MRI demonstrates

abnormalities in areas that deal with facial recognition

Screening37

No validated tools for < 16 months AAP recommends screening 9, 18, 24, 30

mos Whenever a concern is raised M-CHAT

M-CHAT - a good office screen

38

Free: www.firstsigns.org A high false-positive rate

85% sens/93% spec PPV only about 60%

Validated for 16-30 months age

J of Autism and Developmental Disorders, 31 (2). 2001

18-24 Month WCC M-CHAT39

Filled out about how the child usually acts

If the behavior is only seen once or twice, than answer as if the child does not

© 1999Robins, Fein, & Barton

40

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

Positive screen → formal developmental evaluation Referrals to….

41

A multidisciplinary autism team Developmental pediatrician, audiologist, OT,

psych, social worker, speech pathologist An early intervention program (for children

<3) Special education department of the local

school district (for children > 3)

Learn about your community referral sources!

Treatment - Behavioral Therapy

42

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

Sensory Tactile therapy Many states mandate coverage for autism

treatment

Applied Behavioral Analysis www.centerforautism.com

Early Start Denver Program SJ Rogers and G Dawson

TEACCH www.teacch.com

Medications …. 43

Only for non-responsive behavioral problems 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 (centally acting

alpha agonist) for impulsivity, outbursts, hyperarousal

CAM???44

Detoxification/chelation Hyperbaric O2

IV immune globulin Mixed results expensive and not recommended

Supplements ?45

No proven benefit from B6 B12 Omega-3s Magnesium Dimethylglycine Secretin

Dietary restrictions ?46

Gluten-free, casein-free diet A randomized controlled study (35

patients) 16 outcomes measured Improved ability to communicate /interact

socially No improvement in other measures

Poor prognosis if….47

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 MR Psych co-morbidities

Savant skills

10% have some savant skills Obsessive preoccupations (music, trivia,

numbers) < 50 prodigious savants

48

Many children do improve49

Developmental gains in childhood and adolescence are common

Some have behavioral regression during adolescence

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

Summary51

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.

52