Transcript Autism spectrum disorders (ASDs)

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AUTISM SPECTRUM
DISORDERS (ASDS)
Robert A. Baldor, MD, FAAFP
Professor, Family Medicine & Community Health
UMass Medical School
Our Goals Today
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At the end of this session you will be able to:
1. Compare the characteristic symptoms of the three
types of Autism Spectrum Disorders
2. Formulate plans to screen children for
developmental delays, including ASDs, particularly
in situations where parents request an assessment
3. Prepare to address parental concerns about
vaccine safety and its relation to ASDs
Persuasive Developmental Disorders
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Autism spectrum disorders
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Autistic disorder
Asperger syndrome
Pervasive developmental
disorder, not otherwise
specified
Other
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Rett’s syndrome
Childhood
disintegrative disorder
Prevalence
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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??
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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 ?
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Higher incidence (x10) among ASD siblings
High concordance in monozygotic twins
Increased frequency in other genetic disorders
 (Fragile
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X - 20%; tuberous sclerosis)
Environmental exposures
 Unclear
role, may interface with autism genes
? In the genes
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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 ?
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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 ?
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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….
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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!
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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
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Preventable Outbreaks ……
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2010 Mumps outbreak affects ~ 1,500 in NY
 No
deaths but 19 hospitalization
 pancreatitis (5 cases)
 aseptic meningitis (2 cases)
 deafness (1 case)
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2010 Pertussis outbreak > 4,000 cases in California
9
infant deaths linked to outbreak
Is it the acetaminophen????
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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
Autism DSM IV4 Criteria
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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)
A.
Aspergers (Asperger 1944)
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Relatively normal language but all other DSM-IV
criteria for autism met
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IQ must be in the normal range
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May have mild speech delay or atypical speech
Limited interests
May be preoccupied with 1 domain (weather, cars)
Clumsiness is common
Aspergers
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May go unrecognized till school
Interpret speech literally
 no
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understanding of idioms, jokes or lying
Generally loners, uncomfortable in groups
 Lack
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empathy, cannot make friends, do not chat
Maintain routines & follow strict rules
Aspergers
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Whether Asperger syndrome is
phenotypically the high end of
the autism spectrum or a discrete
entity is unclear
Pervasive Developmental Disorder - NOS
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Autistic symptoms
 but
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do not meet all 3 autism criteria
Often used as tentative diagnosis for younger
children or before diagnostic evaluations are
completed
Rett’s disorder
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Mostly females
Deterioration in milestones and growth
 Loss
of purposeful hand movements
 Loss of verbalization
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Poor coordination, ataxia
Early seizures
Childhood disintegrative disorder (Heller's syndrome)
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Normal development to age 2
 Over
next few months, child deteriorates in intellectual,
social, and language functioning
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Unknown etiology
ASDs
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3 core attributes
 Impaired
social interaction
 Language impairments
 Abnormal Behaviors
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Typical presentations
 Delayed
speech or challenging behavior before 3
 Some level of mental retardation
Red Flags (Am Acad Neurology)
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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 attributes
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Impaired social interaction
 Language impairments
 Abnormal Behaviors
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Impaired Social Interactions
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Lack of social skills the earliest & specific sign
3 areas:
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Joint Attention
Social Orienting
Pretend Play
Social Interactions/Joint Attention
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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 Attention
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Declarative pointing serves the social purpose of sharing
Imperative pointing serves to meet the child’s need
Engaging in joint attention
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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/Orienting
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Responds to name
 Easily
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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
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If absent, consider autism
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A child with autism may rarely or only fleetingly
look, even after repeated attempts
Social Interactions/Pretend Play
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Play skills can also be observed in the office
An18-month-old child will normally speak ‘baby
talk’ into a parent's cell phone
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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 attributes
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Impaired social interaction
 Language impairments
 Abnormal Behaviors
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Communication
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Delayed or odd use of language is common, but a less
specific early sign
a
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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 concerns
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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 attributes
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Impaired social interaction
 Language impairments
 Abnormal Behaviors
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Behaviors
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Behaviors are less prominent than social and
language impairments
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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
Behaviors
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Obsessions/compulsions
Repetitive, non-functional behaviors
 Hand
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flapping; rocking; twirling
Lining up objects – only playing with components
(e.g. wheels on a truck)
Hypersensitivity – tactile
Poor coordination
No real physical findings…
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25% increased head circumference
If present accelerated growth in 1st year
Functional MRI demonstrates abnormalities in areas
that deal with facial recognition
Screening
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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
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Free: www.firstsigns.org
A high false-positive rate
 85%
sens/93% spec
 PPV only about 60%
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Validated for 16-30 months age
J of Autism and Developmental Disorders, 31 (2). 2001
18-24 Month WCC M-CHAT
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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
© 1999
Robins, Fein, & Barton
Positive screen if > 2 critical questions
or > of any 3 questions are failed
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Positive screen → formal
developmental evaluation
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Referrals to….
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A multidisciplinary autism team
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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
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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
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Applied Behavioral Analysis
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Early Start Denver Program
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www.centerforautism.com
SJ Rogers and G Dawson
TEACCH
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www.teacch.com
Medications ….
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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???
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Detoxification/chelation
Hyperbaric O2
IV immune globulin
 Mixed
results
 expensive and not recommended
Supplements ?
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No proven benefit from
 B6
 B12
 Omega-3s
 Magnesium
 Dimethylglycine
 Secretin
Dietary restrictions ?
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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….
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Regression (language or other development)
 Usually
between 15-24 months age (25%)
 Can be gradual or sudden
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Lack of social interaction by age 4
Lack of speech by 5
MR
Psych co-morbidities
Savant skills
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10% have some savant skills
Obsessive preoccupations (music, trivia, numbers)
< 50 prodigious savants
Many children do improve
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Developmental gains in childhood and adolescence
are common
Some have behavioral regression during
adolescence
Resources
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Parents:
Autism-pdd.net
Autism-society.org
Autism speaks.org
 ‘First
100 Days Kit’ can help families arrange and advocate
for effective early treatment
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Providers
cdc.gov/ncbddd/actearly/hcp/index.html
www.firstsigns.org
Summary
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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.
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