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Autism Spectrum Disorders

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Title: Autism Spectrum Disorders


1
Autism Spectrum Disorders
  • Robin K. Rumsey, Ph.D., L.P.
  • November 8, 2007

2
Topics Reviewed
  • Diagnosis and Early Identification
  • Epidemiology/ Hypothesized Causes
  • Treatment and Intervention
  • Other Considerations

3
Diagnosis
  • Qualitative impairments in
  • SOCIAL INTERACTION
  • Communication
  • Restricted, repetitive and stereotyped patterns
    of behavior, interests or activities

4
Diagnosis
  • Qualifiers
  • Onset in at least 1 domain before age 3
  • Not better accounted for by other diagnosis

5
Diagnosis
  • Autistic Disorder
  • Aspergers Disorder
  • Pervasive Developmental Disorder Not Otherwise
    Specified (PDD NOS)

6
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

7
Diagnosis
  • Medical Diagnosis versus Educational
    Identification

8
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

9
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

10
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
11
Early Developmental Trajectories in Typical
Development
12
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

13
Imitation
14
Fit Faces with EmotionsSocial Cognition
15
Social engagement
16
Theory of MindSallie-Ann false belief paradigm
17
Joint Attention
18
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

19
Early Identification
  • First Signs video

20
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.

21
Hypothesized Causes/ Epidemiology
22
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)

23
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

24
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

25
Syndromic Autism
26
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

27
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

28
Epidemiology
  • Immunizations
  • What are the concerns regarding Thimerosal
    exposure?

29
Epidemiology
30
Epidemiology
  • Theoretical and laboratory plausibility
  • Suggested similarities between Hg toxicity and
    autism
  • In-vitro biochemical effects of Hg
  • Studies in different strains of mice

31
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

32
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

33
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

34
Epidemiology
Incidence per 10,000 persons
Removal of thimerosal-containing vaccines in 1992
in Denmark
35
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

36
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

37
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

38
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

39
Treatment and Intervention
40
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

41
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

42
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.

43
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

44
Educational Interventions
  • Predictability
  • Use of visuals to supplement communication as
    needed
  • Functional Behavioral Assessment

45
Additional therapies
  • Speech/ Language therapy
  • Should have experience working with children with
    ASD.
  • Behavioral approach (e.g., verbal behavior) often
    most effective.
  • Social communication

46
Additional Therapies
  • Occupational therapy
  • Sensory Integration not supported by research,
    but some anecdotal evidence
  • Motor coordination

47
Relationship Development Intervention (RDI)
  • Sounds promising, but not yet supported by
    independent research.

48
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.

49
Treatment and Intervention
  • No single approach is best for all individuals or
    even across time for the same individual with ASD

50
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

51
Treatment and Intervention
  • Studies on factors leading to successful
    treatment
  • childs engagement in tasks
  • generalization has to be specifically addressed

52
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)

53
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.

54
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

55
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

56
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)

57
Treatment and Intervention
  • Stimulant medications
  • Some suggestion that higher functioning children
    may be more likely to respond positively

58
Other Considerations
  • Insurance
  • PCA services
  • Waiver

59
Other Considerations
  • Community resources
  • Support groups
  • Workshops
  • Books

60
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)

61
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

62
Other Considerations
  • Providers of Center-based ABA Therapy (Twin
    Cities Area)
  • Holland Center
  • Partners In Excellence
  • Lazarus Project

63
  • Robin Rumsey, Ph.D., L.P.
  • rumse002_at_umn.edu
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