1. autism spectrum disorders (asds) robert a. baldor, md, faafp professor, family medicine &...
TRANSCRIPT
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AUTISM SPECTRUM DISORDERS (ASDS)
Robert A. Baldor, MD, FAAFP
Professor, Family Medicine & Community Health
UMass Medical School
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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
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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
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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)
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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
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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)
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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)
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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 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
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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 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
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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 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
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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
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Positive screen if > 2 critical questions or > of any 3 questions are failed
Positive screen → formal developmental evaluation Referrals to….
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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
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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
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
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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.
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