Autism Spectrum Disorders

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Autism Spectrum Disorders

• Robin K. Rumsey, Ph.D., L.P.
• November 8, 2007

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Topics Reviewed

• Diagnosis and Early Identification
• Epidemiology/ Hypothesized Causes
• Treatment and Intervention
• Other Considerations

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Diagnosis

• Qualitative impairments in
• SOCIAL INTERACTION
• Communication
• Restricted, repetitive and stereotyped patterns
  of behavior, interests or activities

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Diagnosis

• Qualifiers
• Onset in at least 1 domain before age 3
• Not better accounted for by other diagnosis

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Diagnosis

• Autistic Disorder
• Aspergers Disorder
• Pervasive Developmental Disorder Not Otherwise
  Specified (PDD NOS)

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Diagnosis and Definition

• Diagnosis in young children
• Autism can be reliably diagnosed as young as 2
  years
• More variability with children with early
  diagnoses of PDD, NOS
• Repetitive behaviors are less common in both very
  young children and high-functioning adolescents
  and adults

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Diagnosis

• Medical Diagnosis versus Educational
  Identification

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CHATChecklist for Autism in Toddlers18-month
visit

• 9 Parent Questions/5 physician Observations
• 5 Key Items
• Parent Enjoy playing peek-a-boo? - joint
  attention
• Parent Use his/her index finger to point, to
  ASK for something?) protoimperative pointing
• Physician Oh look (point), theres a (toy). -
  following a point
• Physician Can you pour a glass of water?
  pretending
• Physician Wheres the light? - producing a
  point

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Can Autism be reliably diagnosed lt36 months?

• Problems measurable by 18 mo and stable through
  preschool age center around development of joint
  attention and communication
• Intense social interest in faces - 4 mo
• orienting to name - 12 mo
• Protoimperative pointing - 12-14 mo
• Protodeclarative pointing - 14-16 mo
• Atypical or no language development
• Joint attention is substrate of cognition
  necessary for language development

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Average age at diagnosis 5 years
Most parents feel something is wrong by 18 months

• Seek medical assistance by 2 y.o.

lt 10 diagnosed at initial presentation
10 told to return if problems persist
Remainder referred to another professional at
mean of 40 months
25 referred to 3rd or 4th professional
40 diagnosed with ASD
25 told not to worry
30 No help was offered
10 professional explained the problem
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Early Developmental Trajectories in Typical
Development
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Children with autism

• Dont have the basic presupposition that they are
  like other people and others are like them
• Trouble imitating facial expressions
• Dont point or follow objects
• Dont understand false beliefs

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Imitation
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Fit Faces with EmotionsSocial Cognition
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Social engagement
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Theory of MindSallie-Ann false belief paradigm
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Joint Attention
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Early IdentificationWhy?

• Self-imposed social deprivation compromises
  behavioral and brain development
• Outcome evidence supports early intervention
• Early identification ? intense structured social
  input ? More typical development

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Early Identification

• First Signs video

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Assessment for ASD

• Should include direct assessment of cognitive
  skills/ development, language, adaptive
  functioning, and behavior whenever possible.
• Diagnosis should be based on parent interview,
  direct observation (Autism Diagnostic Observation
  Schedule) and, if possible, teacher observations.

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Hypothesized Causes/ Epidemiology
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Risk Factors

• Males
• Monozygotic twins
• 60 for DSM-IV autistic disorder
• 71 for ASD phenotype
• 92 broader phenotype of social and
  communication deficits
• Siblings 3-20 (50-100x)
• Increasing maternal age
• Intrauterine infections
• rubella, CMV, herpes, HIV - probably additive
  brain trauma rather than distinct ASD etiology
• Neurotoxin exposure during pregnancy including
  ETOH (FAS/ARND)

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Risk Factors / Family HistoryGenetic loading or
genetic etiologiesDimensional Disorder

• Within families broader autistic phenotype
• More social difficulties
• Higher cognitive, and executive function deficits
• Increased stereotypic behavior
• Language and pragmatic disorders
• Social problems
• Anxiety and OCD
• Affect disorders
• Schizophrenia, anxiety, bipolar disorder
• LD
• Cognitive Adaptive Disorder

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Autism comorbidity

• 50-75 with Cognitive Adaptive Disorders
• IQ best predicator of outcome
• 5-10 with Rare disorders
• 10-30 with Epilepsy
• ? with ADHD and other DSM diagnoses

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Syndromic Autism
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Causes of /Associations withSyndromic Autism
Modified from
Ozonoff et al 2003

• Chromosomal syndromes
• Fragile X, Angelman syndrome, 15q duplications,
  Down Syndrome, del22q11, Ring 20, Rett disorder
• Syndromes/associations without known chromosome
  anomalies
• Sotos, Smith-Lemli-Opitz, Moebius, CHARGE
  association, Joubert, Congenital Myotonic
  Dystrophy
• Neurocutaneous syndromes
• Tuberous sclerosis
• Congenital and acquired infections
• Rubella
• cytomegalovirus
• In utero drug exposure
• Thalidomide, valproic acid
• Inherited metabolic disorders
• PKU
• Disorders of purine metabolism
• Miscellaneous, including hypoxic-ischemic
  encephalopathy

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Epidemiology

• Increase in prevalence
• 1966-1991 4.4 cases per 10,000
• 1992-2001 12.7 cases per 10,000
• Factors that complicate interpretation
• changes in diagnostic practice
• Increased awareness of the disorder
• earlier diagnosis
• educational diagnoses

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Epidemiology

• Immunizations
• What are the concerns regarding Thimerosal
  exposure?

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Epidemiology
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Epidemiology

• Theoretical and laboratory plausibility
• Suggested similarities between Hg toxicity and
  autism
• In-vitro biochemical effects of Hg
• Studies in different strains of mice

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Vaccine Theory

• Onset of autism
• Early onset with progression
• 30 have history o regression 12-24 months No
  established definition MMR recommendation 12-15
  months
• 1998 Wakefield (Lancet, 1998) small
  circumstantial case series of MMR association
  with GI symptoms, autistic regression article
  later retracted by Lancet
• California Dept of Developmental services 273
  increase in autism 1987-1998
• Well after 1971 introduction of MMR
• Study also confirms also not 2o change in DSM
  criteria

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Thimerosal Theories

• Thimerosal (ethylmercury) used since 1930s in
  vaccine
• Prior to 2001 vaccines exposed children to gtEPA
  recommended ethylmercury limits
• Since 3/01 all vaccines available thimerosal free
• Prenatal exposure to methylmercury associated
  with neurodevelopmental abnormalities
• Similarities but differences between signs of
  mercury poisoning and autism
• Rapid excretion and low blood levels of
  ethylmercury
• NIH and CDC studies showed no relationship with
  thimerosal

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Epidemiology

• EPA exposure guidelines are for methylmercury
• Low dose exposure primarily from fish or whale
  consumption
• Thimerosal contains ethylmercury
• Few studies of exposure in humans
• Applicability of methylmercury guidelines to
  ethylmercury exposure?
• Recent pharmacokinetic studies suggest that
  ethylmercury has a much shorter half-life than
  methylmercury

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Epidemiology
Incidence per 10,000 persons
Removal of thimerosal-containing vaccines in 1992
in Denmark
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IOM Report

• 2004 IOM
• Evidence favors rejection of causal
  relationship
• Consistent body of epidemiologic evidence shows
  no association
• Original Wakefield case series uninformative
  regarding causality
• Biologic models linking MMR and ASD are
  fragmentary
• No relevant animal models linking MMR and ASD

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IOM Report

• conclusion does not exclude possibility that
  MMR could contribute to ASD in a small number of
  children, because epidemiologic evidence lacks
  the precision to say this

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Is there an epidemic?

• More cases than in the past? YES
• Is the increase attributable to change in real
  risk?
• Cant rule out changes in diagnosis or that we
  are diagnosing better
• Cant rule in increases in real risk because
  etiology and all the risk factors are not known

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Genetic Influences in Autism

• Epidemiological, twin and family data together
  suggest that the vast majority of cases of ASD
  arise on the basis of a complex genetic
  predisposition

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Treatment and Intervention
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Treatment and Intervention

• Applied Behavior Analysis (ABA) Therapy
• Most commonly studied treatment
• What is it?
• Uses principles of reinforcement
• Variety of behavioral approaches (e.g., Discrete
  trial, pivotal response training, verbal
  behavior, incidental teaching) to teach social
  interaction skills/ communication.
• 25-40 hours a week
• In-home versus center-based
• Prerequisites for benefit (imitation, joint
  attention) and when see most benefit

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Treatment and Intervention

• First randomized control trial of ABA published
  in 2000 (Smith, Groen, Wynn)
• Children who received ABA made greater gains than
  children in parent training control group
• None changed diagnosis
• Gains not dramatic
• Children with PDD, NOS and higher IQs made
  greater gains

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Treatment and Intervention

• Other studies of ABA
• Age at start of treatment may be a factor, but
  response to treatment is not limited to very
  young preschool children
• Comparing newer ABA studies to Lovaas studies
• fewer hours, therapists with less training,
  different IQs.

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Educational Interventions

• Direct social skills instruction with
  opportunities to practice skills with typically
  developing peers (WITH SUPPORT)
• Social communication skills
• Play skills
• Affect training
• Social stories
• Peer tutoring
• Should try and choose outcomes that are
  MEASURABLE in order to monitor progress

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Educational Interventions

• Predictability
• Use of visuals to supplement communication as
  needed
• Functional Behavioral Assessment

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Additional therapies

• Speech/ Language therapy
• Should have experience working with children with
  ASD.
• Behavioral approach (e.g., verbal behavior) often
  most effective.
• Social communication

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Additional Therapies

• Occupational therapy
• Sensory Integration not supported by research,
  but some anecdotal evidence
• Motor coordination

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Relationship Development Intervention (RDI)

• Sounds promising, but not yet supported by
  independent research.

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Supplements/ Diet

• Some anecdotal evidence, but not supported by
  research.
• For families who want to try this, we try to help
  them approach dietary changes/ supplements in a
  scientific way.

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Treatment and Intervention

• No single approach is best for all individuals or
  even across time for the same individual with ASD

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Treatment and Intervention

• Greater recognition of the interplay between
  different treatments
• social stories
• written cues
• modifications of expansions of behavioral
  treatments
• incidental teaching
• Pivotal Response Intervention
• TEACCH

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Treatment and Intervention

• Studies on factors leading to successful
  treatment
• childs engagement in tasks
• generalization has to be specifically addressed

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Treatment and Intervention

• Communication interventions
• parent behavior
• Social skills
• limitations of full inclusion without systematic
  or skills support
• combined approaches (social stories, problem
  solving, affect training, multi-site support)

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Treatment and Intervention

• Social skills
• Videotapes to help with complex play themes,
  transitions, and play with siblings
• Attempts to teach theory of mind improved
  childrens ability to do tasks within teaching
  environment, but did not generalize.

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Treatment and Intervention

• Pharmacological Treatments
• Over past decade, shift from antipsychotic
  medications to the newer, atypical,
  antipsychotics as well as to the use of the
  serotonin-blocking agents

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Treatment and Intervention

• Pharmacological treatments
• Atypical antipsychotics have more favorable
  side-effect profiles
• Target symptoms
• self-injury, severe agitation or stereotyped
  movements, severe behavior problems
• Decreased risk of extra pyramidal side effects

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Treatment and Intervention

• Most extensive body of work has development on
  risperidone
• significant benefits
• SSRIs
• May be helpful with repetitive/ obsessive
  behaviors, difficulties dealing with change
• Not as well studied
• Some support for fluoxetine (reduced levels of
  compulsive behaviors and aggression)

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Treatment and Intervention

• Stimulant medications
• Some suggestion that higher functioning children
  may be more likely to respond positively

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Other Considerations

• Insurance
• PCA services
• Waiver

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Other Considerations

• Community resources
• Support groups
• Workshops
• Books

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Community Resources

• Support Groups/ Resources/ Education
• Autism Society of Minnesota (www.ausm.org)
• Autism Speaks (www.autismspeaks.org)
• Multidisciplinary Team Diagnosis
• University of Minnesota Autism Spectrum Disorders
  Program (612-625-3617)
• Alexander Center (952-993-2498)
• Mayo Clinic (507-538-3270)

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Community Resources

• Providers of in-home ABA Therapy (Twin Cities
  Area)
• Minnesota Early Autism Project (763-493-7935)
• Behavioral Dimensions (www.behavioraldimensions.co
  m)
• Lovaas Institute (612-925-8365)
• Minnesota Autism Center (www.mnautism.org) also
  branches in St. Cloud, Rochester and Duluth

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Other Considerations

• Providers of Center-based ABA Therapy (Twin
  Cities Area)
• Holland Center
• Partners In Excellence
• Lazarus Project

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• Robin Rumsey, Ph.D., L.P.
• rumse002_at_umn.edu