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Title: The History of Autism: steps toward evidence based management Part II: diagnosis, prevalence and com

The History of Autismsteps toward evidence
based management?Part II diagnosis, prevalence
and comorbidities
  • Dr. Jennifer E. Fisher M.B., B.S., MRCPsych,
  • Clinical Associate Professor
  • Department of Psychiatry
  • The University of Calgary
  • Consultant Psychiatrist
  • Developmental Clinic
  • Alberta Childrens Hospital

The History of Autism
  • Part I History what have we learned?
  • Part II Evidence based practice diagnosis,
    prevalence, comorbidities.
  • Part III Evidence based practice aetiology,
    management and prognosis.

Please leave me alone I dont want to read
another article on autism ever again
  • Selected, representative studies

Part I History what have we learned?
  • The diagnosis of classical autism (Kanners
    Syndrome) is a robust entity.
  • In retrospect, Kanners choice of the name
    autism was unfortunate, because of the
    confusion with Bleulers original definition.
    Because of this the separation of autism from
    psychoses was probably delayed by many years.

Classical cases have been clearly described since
the 18th century.
  • The Case of Hugh Blair of Borgue
  • 1708/9 - 1765

John HaslamObservations on madness and
melancholy 1809
  • Cases of insane children

The feral child
  • Jean Itard and the wild boy of Aveyron.
  • Dr Bruce Perry.
  • The Neuroarcheology of Childhood Maltreatment
    The Neurodevelopmental Costs of Adverse Childhood
    Events (Web Link)

William Howship Dickinson (1832-1913)
  • Autistic disorder in nineteenth century London
    three case reports
  • Waltz, M., Shattock, P.
  • Autism, Vol. 8, No. 1, 7-20 (2004)

Psychodynamic factors do have a place if we
understand them in historical perspective
History what have we learned?
  • Given the astonishing increase in prevalence in
    the last 15 years (mostly with high functioning
    cases) and the enormous number of causal
    hypotheses and associations we must question the
    construct validity of the spectrum.
  • There is a need for Evidence Based research and

Evidence-based medicine
  • The conscientious, explicit and judicious use
    of current best evidence in making decisions
    about the care of individual patients (Sackett
    et al., 1996)
  • Evidence as developed through systematic and
    methodologically rigorous research, emphasizing
    the use of science while de-emphasizing the use
    of intuition, unsystematic clinical experience
    . (Evidence-Based Medicine Working Group, 1992)

Evidence based medicine as it relates to
  • Diagnosis
  • Assessment / Prevalence
  • Comorbidities
  • Aetiology
  • Management
  • Prognosis

  • Diagnosis
  • Greek dia by, apart, through gnosis -
    knowledge, ???s??
  • (The word comes directly from the Greek, but the
    meaning has been changed. To the Greeks a
    diagnosis meant specifically a "discrimination, a
    distinguishing, or a discerning between two
    possibilities. First medical application of the
    word 1681 from diagignoskein "discern,
    distinguish," from dia- "apart" gignoskein "to
    learn". The word diagnose is first recorded
    1861. Diagnostic is recorded from 1625)

  • The medical history
  • Anamnesis a?aµ??s?? recollection,
  • A skilled organized medical history will lead to
    accurate diagnosis in about 85 of cases in any
    discipline of medicine.
  • The phenomenological mental state examination is
  • equivalent to the physical examination.

  • Edmund Husserl, introduced the term in his book
  • Ideas A General Introduction to Pure
  • (1913 trans. 1931)
  • Phenomenology, 20th-century philosophical
    movement dedicated to describing the structures
    of experience as they present themselves to
    consciousness, without recourse to theory,
    deduction, or assumptions from other disciplines
    such as the natural sciences.
  • Phenomenology is the study of the structures of
    consciousness that enable consciousness to refer
    to objects outside itself. This study requires
    reflection on the content of the mind to the
    exclusion of everything else. Husserl called this
    type of reflection the phenomenological

Karl Jaspers (1883 1969)
  • Allgemeine Psychopathologie
  • Jaspers, K. 1913.
  • Translated into English by J. Hoenig and W.
    Hamilton, General Psychopathology. Toronto, 1963.

  • Links
  • Centre for Advanced Research in Phenomenology
  • Karl Jaspers Biography (pdf)
  • Classic Book
  • Fishs Clinical Psychopathology
  • F J Fish, Max Hamilton
  • Evidence phenomenological bedside MSE
    examination is a corner stone of good practice

Diagnosis Screening and surveillance
  • What is Surveillance?
  • A flexible, continuous process, in which
    knowledgeable professionals perform skilled
    observations of children during child health
  • SM Dworkin, A Shannon, and P Dworkin. Child Serv
    Curriculum. Center for Childrens Health and
  • St Francis Hospital and Medical Center 1999
    Hartford, CT.
  • Surveillance is a continuous process
  • Screening tools are used to enhance the
    surveillance process.
  • What is screening?
  • Brief, objective, and validated test
  • Goal to differentiate children that are "probably
    ok" vs. "needing additional investigation
  • Performed at a set point in time
  • Often the terms are used interchangeably and not
    always accurately

Consensus Panel USA 2000
  • American Academy of Neurology
  • American Academy of Pediatrics
  • American Academy of Child and Adolescent
  • Population based screening in two stages
  • Routine developmental surveillance (including
    measures to detect general developmental delay)
  • Specifically to detect delayed speech

National Autism Plan for Children. UK (2003)Web
link The Royal College of Psychiatrists. The
full report (PDF file)
  • All Party Parliamentary Group on Autism
  • National Autism Society (Web link)
  • Royal College of Psychiatrists
  • Royal College of Paediatrics and Child Health

National Autism Plan for Children. UK
  • Principals surveillance and education
  • no whole population screening.
  • screening for the detection / diagnosis of all
    developmental problems in each local school area.
  • training of educational and health professionals
    for alerting signs at pre-school and early
    school age.
  • as part of surveillance regular opportunities
    (at ages 8 12 months, 2 3 yrs and 4 -5 yrs)
    for parents to discuss a childs development with
    a surveillance team member with rapid response.
  • after pick-up initial screening developmental
    assessment then, for selected cases,
    multi-agency assessment.
  • Evidence the history of medicine repeatedly
    demonstrates the huge impact of population based
    interventions on the overall health of a society.

Screening versus surveillance ?
  • Teaching Developmental-Behavioral
    Screening/Surveillance to Healthcare
    Professionals (Web link)
  • Keith J Goulden MD, FAAP. University of Alberta
  • How to educate Primary Care professionals on
  • Recognizing the limited cost-benefit
    information about this activity, however, neither
    the British Joint Working Party on Child Health
    Surveillance nor the Canadian Task Force on
    Periodic Health Examination recommends the
    routine use of developmental screening
    instruments at this time.  Partly as a result of
    this and partly because of other pressures on
    time and resources, few pediatricians, family
    physicians or community health nurses currently
    screen development in Canadian children. Even in
    the USA, where this activity is recommended,
    there is limited success in carrying out this
    activity a survey in 2000 found that only 57 of
    children aged 10-35 months had ever received a
    single developmental assessment, let alone
    routine ones.
  • February 2005

Benefits of Screening
  • Sorts children into 3 categories
  • Needs additional evaluation - did not pass
    screening test
  • Needs close monitoring - passed screening test
    but has risk factors
  • Needs ongoing monitoring in the context of
    well-child care - passed screening test and has
    no known risk factors

Self appraisal?
  • As an experienced physician who relies on taking
    a detailed, logical history and completes in
    depth mental state examinations .. the next
    few slides made me think about my own practice
    and the use of screening instruments (
    all-be-it for different clinical purposes).

Survey of American Academy of Pediatrics Fellows
(Survey 53 2002)
  • 7 out of 10 pediatricians felt they accurately
    identified potential problems via clinical
    assessment (without use of a screening instrument
    or checklist)
  • 48 of pediatricians indicated that they "always"
    or "sometimes" used a formal developmental
    screening instrument
  • Majority of these use the Denver II which is
    known to have modest sensitivity and specificity
    depending on the interpretation of questionable
  • Most physicians rely on clinical judgment

Survey of American Academy of Pediatrics Fellows
(Survey 53 2002)
  • Clinical judgment detects fewer than 30 of
    children who have developmental disabilities
  • Glascoe FP. Pediatrics in Review.
  • Palfrey et al. J Peds. 1994111651-655.

Screening for autism as part of developmental
  • Parents Evaluation of Developmental Status
  • Ages Stages Questionnaire (ASQ)
  • Child Development Inventory (CDI)
  • Nipissing District Developmental Screen (NDDS)
  • Direct examination
  • Brigance Screens
  • Bayley Infant Neurodevelopmental Screener (BINS)
  • Battelle Developmental Inventory Screening Test
  • (expensive, need training see Goulden - Web
    link - for review)

Parents Evaluation of Developmental Status (PEDS)
  • Can be used from birth to 8 years of age
  • Screens motor, language, behaviour, social
  • Ten question parental questionnaire
  • Takes about two minutes to administer and score
    if conducted as an interview. Can be completed in
    the waiting room or at home
  • High sensitivity 74 to 79 and specificity 70
    to 80
  • Written at the fourth to fifth-grade reading
    level, which ensures that almost all parents can
    read and respond independently to the items
  • Can be used for longitudinal surveillance
  • Standardized on 2823 families from various
    backgrounds, including various socioeconomic
    levels and ethnicity
  • English, Spanish, Vietnamese
  • Cheap and easy to learn

The Ages and Stages Questionnaire
  • Widely used in both research and clinical
  • Screens for communication, gross motor, fine
    motor, problem solving and
  • personal-social
  • Fairly strong psychometric properties in terms of
    overall concurrent validity
  • However sensitivity rates vary by age of the
    sub-sample from 51 among 4-month-olds to 90
    among 36-month-olds (Squires et al., 1999 -
  • A more recent study of premature infants who were
    12, 18, 24 or 48 months old (corrected age),
    yielded the lowest sensitivity rates among the
    18-month-olds (50) when compared with 12- and
    48-month-olds (100) (Skellern, Rogers
    OCallaghan, 2001).

Child Development Inventory (CDI)
  • Used widely in research and by some specialists
  • Measures social, self help, gross motor, fine
    motor, expressive language, language
    comprehension, letters, numbers, and general
  • A 300-item parent questionnaire that assesses the
    development, symptoms, and behavior problems of
    young children
  • Ages 15 months-6 years
  • Administration time 30-50 minutes
  • Interpretation profile of 8 developmental scales
    profiles the child's development in relation to
    age norms and identifies the child's strengths
    and areas of delay.

Nipissing District Developmental Screen (NDDS)
(Web link)
  • In 1993, the Nipissing District Infant
    Development Program (sponsored by the Children's
    Aid Society for the Districts of Nipissing and
    Parry Sound, in North Bay, Ontario) became
    concerned about the number of children with
    developmental delays who were being identified
    after age three
  • Screens at thirteen developmental stages 1 2
    months, 4 months, 6 months, 9 months, 12 months,
    15 months, 18 months, 2 years, 30 months, 3
    years, 4 years, 5 years and 6 years.
  • Assesses vision, hearing, speech, language,
    communication, gross motor, fine motor,
    cognitive, social/emotional and self-help.
  • Available in English, French, Spanish and
  • Is not fully validated though studies in
    progress e.g.
  • Validation of the Nipissing District
    Developmental Screen. For Use With Infants and
    Toddlers Working Paper. V. Susan Dahinten and
    Laurie Ford University of British Columbia
  • (Consortium for Health, Intervention, Learning
    and Development Site) Full text PDF - here

Telephone screening
  • Developmental delay at 12 months in children born
    extremely preterm
  • Ane Lando, Anja Klamer, Finn Jonsbo, Janne Weiss,
    Gorm Greisen.
  • Department of Neonatology, Juliane Marie Centre,
    Copenhagen University Hospital, Rigshospitalet,
    Copenhagen, Denmark. Acta Paediatrica Volume 94,
    Number 11 / November 2005 1604 1607
  • Aim To evaluate the feasibility and validity of
    a structured telephone interview to assess the
    development of children born extremely preterm.
  • Methods The parents of 88 children born with a
    gestational age below 28 wk admitted to the NICU
    were interviewed by telephone when their child
    was 1 yr of age, corrected for preterm birth.
    Control group of 30 infants. A fully structured
    questionnaire on psychomotor function was used
    (Revised Prescreening Developmental Questionnaire
  • Validate the R-PDQ, parents of 22 children in the
    preterm group and parents of 19 children in the
    reference group conducted an Ages and Stages
    Questionnaire (ASQ) when their children had
    reached the age of 33½ y.
  • Results The R-PDQ was easy to use by staff and
    well accepted by parents. The mean score in the
    preterm group was 14.93.9 vs 17.72.7 in the
    term group (pdevelopmental scores below-2 SD. The R-PDQ score
    was associated with the ASQ score 2 y later.
  • Conclusion A structured questionnaire
    administrated by telephone is an alternative and
    usable tool for assessing neurodevelopmental
    deficit in children born extremely preterm. The
    mean developmental delay in the preterm group
    compared to the term group (about-1 SD) was close
    to expectations.

Detection / Screening Canada
  • Education of clinicians practitioners about early
  • The early detection of autism in clinical
  • Susan E Bryson PhD, Lonnie Zwaigenbaum MD, Wendy
    Roberts MD
  • Paediatrics and Child health. April 2004. Volume
    9, Number 4219-221
  • (Web link to CAIRN Site)
  • Knowing what questions to ask and how
  • Most parents (usually the mothers) present with
    questions that something is wrong but they
    cant put their finger on it therefore guided
    questioning is important

Detection / Screening Bryson et al 2004
  • Atypical social-emotional engagement/connectedness
    and play,
  • notably a lack of
  • Social smiling (specifically in response to
    the smiles of others) Shared affect/interest in
    social games such as peek-a-boo (in absence of
    physical contact such as tickling) Interest
    in other children (eg, ignores/avoids or does not
    imitate their play) Orienting to own name
    being called Interest in toys, or plays with
    them in unusual ways (eg, lining up, spinning
    or opening/closing a part rather than using toy
    as a whole) Pretend play (eg, feeding a
    stuffed animal or having a tea party)

Detection / Screening Bryson et al 2004
  • Delays/abnormalities in language and non-verbal
    communication, notably a lack of
  • Following others eye gaze to a nearby
    object/person Shared/joint attention (eg, eye
    gaze with another person and an object/event of
    interest) Communicative gestures such as using
    eye gaze to request something, pointing at a
    distant object of interest (eg, an airplane), or
    waving good-bye Social/reciprocal babbling, as
    in conversing with others Meaningful language
    (eg, delayed, odd first words or unusually

Detection / Screening Bryson et al 2004
  • Regression/loss of early words and/or
    social-emotional engagement/connectedness
  • Other atypical behaviours Lack of active visual
    exploration of environment Tends to stare or
    visually fixate on certain objects/patterns (eg,
    lights) Tends to be under- and/or over-reactive
    to sounds or other forms of sensory stimulation
    (eg, seeks out certain stimuli in an unusual
    way, or covers ears to loud sounds)

  • Classic autism on history and examination easily
  • Most children are not diagnosed until age 4 to 5
  • Typically 2 to 3 years after parents first seek
    professional help
  • Most children are seen by at least three
    professionals for prior to diagnosis
  • As one moves up the spectrum and with
    increasing age the more important a detailed
    developmental history and solid phenomenological
    mental state examination becomes (especially with
    atypical autism).

Screening / Detection
  • Can Autism be Detected at 18 Months? The needle,
    the haystack and the CHAT
  • Baron-Cohen S, Allen J, Gillberg C.
  • Br J Psychiatry 1992161839-943
  • 41 high risk infants with a sibling with autism
  • 4 children exhibited clear signs of autism at 18
  • Evidence an older study, but well designed, well
    known authors,
  • major journal keep a high index of suspicion
    in siblings

The very early identification of autism outcome
to age 4 - 5Eaves LC, Ho HH. Journal of Autism
and Developmental Disorders 2004 34(4) 367-378
  • 49 children, referred to a Childrens Health
    Centre in Vancouver.
  • Parents were concerned about their development at
    age 2 or earlier.
  • Assessed at age 2 and again at age 4 / 5 years.
  • All of the children had significant developmental
  • Autism 34, PDD-NOS 5, language disorder 5,
    Anglemans 1
  • At second assessment
  • 79 retained initial diagnosis.
  • 3 children improved.
  • Better outcome with higher IQs.
  • (small sample size, referred sample, severe
  • Evidence At the severe end of the spectrum early
    diagnosis is robust

Regression/loss of early words Bryson et al
  • Regression and word loss in autistic spectrum
  • Lord C, Shulman C, DiLavore P Journal of Child
    Psychology and Psychiatry
  • 2004 45(5) 936-955
  • Samples
  • 110 children with autistic symptoms (tested at 2,
    3, 4/5 yrs of age).
  • 21 children with developmental delay (tested at 2
    and 4 years of age).
  • Control group of 33 children (tested at entry to
    study 2 -3 yrs).
  • Evidence
  • A history of early word loss is specific to
    children with ASDs
  • It is always an alert for further investigation
  • (the study also noted many parents believe
    language development was normal before
  • the loss however there is a plateau of language
    acquisition prior to the loss)

Does the age when symptoms of autism are first
detected predict the severity of autism and
  • Relationship between age of recognition of first
    disturbances and severity in young children with
  • Baghdadli A, Picot MC, Pascal C, Pry R,
    Aussilloux C
  • European Child Adolescent Psychiatry 2003
  • 193 children, from 21 months to 7 years from 49
    French Child Psychiatry Clinics
  • 158 (82.4) infantile autism, 28 (14.6) atypical
  • 81.3 boys, 18.7 girls
  • 39 additional medical condition (genetic /
    neurological disorders present at birth)
  • Vineland Adaptive Behaviour Scale, CARS, speech
    language assessment

Age of recognition of first disturbances findings
  • 37.6 of parents noticed developmental
    abnormalities the first birthday
  • 20.6 reported problems between 12 and 18 months
  • 19.4 difficulties noted between 18 and 24 months
  • 18.8 between 24 and 36 months
  • 3.6 after 36 months
  • Severity of developmental delay, deficits in
    social adaptation and autistic symptoms linked to
    the age of initial recognition
  • Children recognized before 18 months had more
    severe symptoms than children who were recognized
    after 18 months and lower social, communication
    and daily living skills levels
  • A strong association between early recognition
    and neurological diseases and hearing impairment
  • No associations with sex, birth order,
    socioeconomic class
  • The presence of social adaptation deficits and
    medical disease were most closely related to
    early recognition.

Age of recognition of first disturbances findings
  • Conclusions
  • Age of first recognition is not necessarily the
    same time symptoms begin
  • Early recognition is more related to the degree
    of developmental delay and neurological symptoms
    than to the severity of autism
  • The best predictor of early recognition is
    delayed daily living skills and the presence of
    neurological problems and auditory difficulties.

Quality Standards Subcommittee of the American
Academy of Neurology and Child Neurology Society
(Web link to complete article)P. A. Filipek, et
al (Neurology (55(4) 468-479 22 August 2000).
Practice Parameters for the Assessment and
Treatment of Children, Adolescents and Adults
with Autism and Other Pervasive Developmental
Disorders(Web link to full text)
  • J Am Acad Child Adolesc Psychiatry, 3812
    Supplement, December 1999
  • The full text of the Practice Parameters a long
    document, however it covers all the aspects of
    diagnosis, investigation and treatment.
  • (Word Document)

The Autism Diagnostic Interview-Revised(ADI-R,
Lord et al. 1994).
  • Along with its companion Autism Diagnostic
    Observation Schedule-Generic (ADOS-G, Lord et
    al., 1989), is the primary research instrument
    used for diagnosing autism.
  • The ADI-R is a semi-structured, standardized
    interview, conducted with a caregiver, that
    assesses the presence and severity of various
    behaviors commonly found in autism.
  • The interview contains over 100 items that
    solicit information about a child's language,
    communication, social development, play, unusual
    behaviors and interests, and developmental

The Autism Diagnostic Observation Schedule
Generic (ADOS-G, Lord et al. 1989).
  • A semistructured, standardized assessment of
    social interaction, communication, play, and
    imaginative use of materials for individuals
    suspected of having autism spectrum disorders.
    The observational schedule consists of four
    30-minute modules, each designed to be
    administered to different individuals according
    to their level of expressive language.
  • University of Michigan Autism and Communication
    Disorders Centre
  • (Web link)
  • (Click on Diagnostic Tools)

Autistic Spectrum Disorders
  • A spectrum of related diagnostic categories
  • Within the spectrum of categories researchers
    have attempted to identify stable dimensions of
    symptom presentation that manifest across all of
    the categories.

(No Transcript)
Szatmari et al (2002)
  • 129 children with autism and other forms of PDD
    from two samples with different inclusion
    criteria were assessed using the Vineland
    Adaptive Behaviour Scales (VAB) to measure level
    of functioning and the Autism Diagnostic
    Interview (ADI) to measure the severity of
    autistic symptoms. Two relatively robust
    dimensions were identified
  • Dimension I representing autistic symptoms
  • (ADI measures of reciprocal social
    interaction, repetitive movements and
  • Dimension II representing level of functioning
  • (VAB measures of socialization,
    communication, motor skills, daily living
  • (Szatmari et al Quantifying Dimensions in
    Autism A Factor-Analytic Study.
  • J. Am. Acad. Child Adolesc. Psychiatry, 414,
    April 2002)

Why is it important to identify robust domains of
  • Szatmari, 2002
  • If it were true that autism / PDD is composed
    of more than one dimension, this would have
    important implications for research into
    neurobiological mechanisms. Separate dimensions
    may be influenced by separate etiological
    mechanisms, a model that has also been suggested
    for schizophrenia (Andreason and Carpenter, 1993)
    and could be equally applied to autism
  • (also the work of van Praag)

Reliability and Accuracy of Differentiating
Pervasive Developmental Disorder Subtypes.
Journal of the American Academy of Child
Adolescent Psychiatry. 37(3)278-285, March 1998.
  • Objective To evaluate the ability of the DSM-IV
    criteria for the pervasive developmental
    disorders (PDD) to reliably and accurately
    differentiate PDD subtypes.
  • Method 143 children with various developmental
    disabilities. A diagnosis of PDD and PDD subtype
    was made using the ADI-R and ADOS. Raw data from
    the ADI-R, clinical notes (excluding diagnostic
    opinion), ADOS, IQ, and other data were
    independently assessed by three experienced
    raters, each of whom then made a separate, blind
    diagnosis. If any disagreement, a consensus
    diagnosis was made. Inter-rater reliability was
  • Results DSM-IV criteria show good to excellent
    reliability for the diagnosis of PDD, AS and
    autism. Poor reliability for the diagnosis of
    atypical autism. The clinician had little
    difficulty differentiating PDD from non-PDD and
    autism from AS but had more difficulty
    identifying children with atypical autism.
  • Conclusions DSM-IV criteria for autism and AS
    appear acceptable, there is a high rate of
    misclassification of children given a diagnosis
    of atypical autism.

"Exploring the borderlands of autistic disorder
and specific language impairment a study using
standardised diagnostic instruments. Bishop, D.
V. and C. F. Norbury (2002). Journal of Child
Psychology Psychiatry Allied Disciplines,
43(7), 917-29.
  • Two studies were conducted to test claims that
    pragmatic language impairment (PLI) is simply
    another term for AD or PDD-NOS
  • METHOD Study 1 21 children 6 to 9 years with
    language impairments were subdivided on the basis
    of the Children's Communication Checklist into 13
    cases of PLI and eight cases of typical specific
    language impairment (SLI-T). Parents completed
    the ADI-R and the Social Communication
    Questionnaire (SCQ) and ADOS-G. Study 2 11
    children with SLI-T and 18 with PLI were assessed
    using the SCQ and ADOS-G also 6 children HFA and
    18 normally developing children were assessed.
  • RESULTS good agreement between ADI-R and SCQ
    diagnoses. Poor agreement ADI-R and SCQ diagnoses
    and ADOS-G. Symptom profiles changed with age.
    Five children (both studies) met criteria for AD
    on both parental report (ADI-R or SCQ) and
    ADOS-G. Many others showed some autistic
    features. Also a subset of children with PLI who
    were not diagnosed as AD or PDD-NOS. These
    children had stereotyped language, abnormal
    intonation / prosody, but were sociable and
    communicative, had normal nonverbal communication
    and few abnormalities outside the language/social
    communication domains.
  • CONCLUSIONS Presence of PLI in a child with
    communication problems should prompt evaluation
    of autistic symptomatology, but it is dangerous
    to assume that all children with pragmatic
    difficulties have AD or PDD-NOS

Committee on Educational Interventions for
Children with Autism.National Research Council
(United States)
  • The committee assessed published reports of
    diagnosis, assessment, and prevalence and found
    that while clinicians could reliably diagnose
    children as falling within the spectrum, they
    could not necessarily pinpoint whether, for
    instance, a child had classical autism or
    atypical autism, PDD-NOS or Aspergers Syndrome.
  • There is little benefit to identifying narrow
    diagnoses (e.g., classical autism, atypical
    autism, PDD-NOS, or Aspergers Syndrome), as it
    is not important to clinical or educational
  • National Research Council (2001) Educating
    Children with Autism. Committee on Educational
    Interventions for Children with AutismCatherine
    Lord and James P. McGee, editors.Division of
    Behavioral and Social Sciences and Education.
    Washington, D.C. National Academy Press.

Diagnosis conclusions
  • Agreement that coordinated population
    surveillance and screening is necessary . but we
    still have far to go (see Goulden)
  • Diagnosis is often delayed
  • Clinical judgment should be supported by
    standardized developmental screening instruments
    and simple ones exist
  • In Canada further exploration of telephone
    screening using standardized interviews
  • Early diagnosis of classical autism is robust
    over time
  • Regression in language always needs investigation

Diagnosis conclusions
  • Useful algorithms exist
  • Specialized tools such as the ADI-R and ADOS are
    valid at the lower end of the spectrum but less
    discriminating at the high end of the spectrum,
    older high functioning children and atypical
  • Identifying dimensions of symptoms within the
    spectrum is a very important thrust of research.
    Dimensions such as such as disturbances in
    perception, memory, facial recognition, social
    cognition are likely to relate to underlying
    brain mechanisms and are nosologically

  • The Genetics of Autism (PEDIATRICS Vol. 113 No.
    5 May 2004, pp. 472-486)
  • (Web link to Microsoft Word Document)
  • Autism is a complex, behaviorally defined,
    static disorder of the immature brain that is of
    great concern to the practicing pediatrician
    because of an astonishing 556 reported increase
    in pediatric prevalence between 1991 and 1997, to
    a prevalence higher than that of spina bifida,
    cancer, or Downs syndrome. This jump is probably
    attributable to heightened awareness and changing
    diagnostic criteria rather than to new
    environmental influences. Autism is not a disease
    but a syndrome with multiple nongenetic and
    genetic causes.

  • Autistic conditions in early childhood
  • a study in Middlesex.
  • Wing, L., OConnor, N., Lotter, V.
  • British Medical Journal. 1967. 3 389
  • 4.5 per 10,000

  • Prevalence rates have increased over the last
  • ? a true increase
  • ? related to shifting diagnostic criteria and
  • ? due to international differences (DSM vs
  • ? a fashionable diagnosis
  • ? better education of teachers, psychologists and

Analysis of prevalence trends of autism spectrum
disorder in Minnesota.Gurney JG, Fritz MS, Nes
KK, Stevers P, Newschaff CJ, Shapiro EG.Archives
of Pediatric and Adolescent Medicine. July 2003
157 622-627
  • School district sampling.
  • Between the years 1991-92 and 2001-02, the rates
    of diagnosis of autism in children in the
    Minnesota school system increased from 3 in
    10,000 children to 44 in 10,000 children.
  • Most of the increase could not be accounted for
    by diagnostic substitution, that is, instead of
    having a diagnosis of mental retardation, a child
    would be given a diagnosis of autism with a
    secondary diagnosis of mental retardation.
  • There was, however, a leveling off at the end of
    the study period, with no more rate increases

The Changing Prevalence of Autism in
CaliforniaCroen, LA., Grether, JK., Hoogstrate,
J., Selvin, S.Journal of Autism and
Developmental Disorders. June 2002, 32, 3
  • To examine the degree to which improvements in
    detection and changes in diagnosis contribute to
    the observed increase in autism prevalence.
  • Population-based study of eight successive
    California births cohorts children born 1987
    1994 with autism were identified from the
    statewide agency responsible for coordinating
    services for individuals with developmental
  • A total of 5038 children with full syndrome
    autism were identified from 4,590,333 California
    births, a prevalence of 11.0 per 10,000.
  • During the study period, prevalence increased
    from 5.8 to 14.9 per 10,000.
  • An absolute change of 9.1 per 10,000.
  • Increase was not related to maternal age,
    race/ethnicity, education, gender.
  • During the same period, the prevalence of mental
    retardation without autism decreased from 28.8 to
    19.5 per 10,000
  • An absolute change of 9.3 per 10,000.
  • This data suggests that improvements in
    detection and changes in diagnosis account for
    the observed increase in autism.

Prevalence of autism and parentally reported
triggers in a north east London
population.Lingam R, Simmons A, Andrews N,
Miller E, Stowe J, Taylor B.Archives of Disease
in Childhood. 88666-670. 2003.
  • 567 children born in north east London between
    1979 and 1998. What was the rate of autism per
    year and what factors did parents cite as causing
    their child's condition?
  • Design Prevalence study using records linkage.
  • Sample children with diagnosis of autism were
    located through computerized records, disability
    registers and by contacting local pediatricians,
    local child psychiatrists, and special schools to
    help ensure that all children with autism were
    located. Computerized lists of children's
    diagnostic records, immunization records, and
    health history records were examined to verify
    the diagnosis of autism, to find any reports of
    regression noted in the charts, and the reasons
    for the regression that were cited by the
    children's parents. The records were linked to
    determine first mention of "autism," any mention
    of "regression" and the date of MMR immunization.
    After finding all the records of children in whom
    regression was reported, the researchers looked
    for the parents' opinion as to the cause of their
    child's condition.

North east London cont
  • Results prevalence rate of 14.9 per 10,000. If
    children with atypical autism and AS included,
    rate of 29.4 per 10,000. An apparent increase in
    yearly rates from early 80s up to 90s, when they
    levelled off.
  • Of 44 children with regression, 42 had a
    specific trigger.
  • 13 a change in the household (eg the birth
    of sib)
  • 12 MMR was mentioned
  • 7 viral or bacterial infections
  • 2 post-surgical period
  • It was also found that after 1997 when there
    were reports of an association between the MMR
    vaccine and regressive autism, although many
    parents reported that they remembered that their
    child had regressed, their children's records
    showed that there were mentions of concerns about
    the children's development prior to the child's
  • Conclusions
  • - rates of increase similar to other studies
    due to improved recognition
  • - MMR and media publicity of the Wakefield study

  • Fombonne (2003)
  • Autistic disorder
  • 21 epidemiological studies from 13 countries
    since 1987
  • huge methodological problems identified (sampling
    , definition)
  • rates from 2.5 / 10,000 to 30.8 / 10,000
  • best estimate 10 / 10,000
  • Aspergers syndrome / PDD-NOS
  • reviewed 32 studies
  • same methodological issues
  • AS 2.5 / 10,000
  • PDD 15 / 10,000

  • Autistic Spectrum Disorders
  • All diagnoses taken together
  • 57.9 to 67.5 / 10,000

Eric Fombonne
Eric Fombonne
  • One in 165 children now estimated to have
    pervasive developmental disorder, three times
    greater than previously thought

Prevalence Conclusions?
  • Rates of classical autism have increased, but
  • (probably related to better identification,
  • Rates of Retts disorder and CDD have not
  • Rates of Aspergers syndrome, HFA and PDD-NOS
    have risen a great deal (problems with ADOS
    identification at the top end)
  • Do we know the rates of atypical autism?
  • Then we have all of the other associated
    diagnoses that have become fashionable in the
    last 10 to 15 years - and these are often
    inappropriately used interchangeably with
    Aspergers, HFA and PDD-NOS

  • High functioning autism
  • Sensory Integration Disorder
  • Regulatory Disorder of Infancy
  • Non-verbal Learning Disability
  • Right Hemisphere Syndrome in Children
  • Hyperlexic Syndromes
  • Visual Spatial Motor Disorder
  • DAMP (deficits in attention, motor control,
    memory and perception)
  • Multiplex Developmental Disorder
  • Pragmatic Language Disorder

  • Prevalence comorbid disorders

Associated medical disorders and disabilities in
children with autistic disorder a
population-based study Kielinen M, Rantala H,
Timonen E, Linna SL, Moilanen IAutism 2004
8(1) 39-48
  • Sample population 152,732 children under the age
    of 16, 187 children DSM IV autistic disorder. AS,
    Rett syndrome, CDD excluded.
  • 19 more than one disorder
  • 12.3 known or suspected genetic condition
  • 18.2 seizure disorder
  • 13.4 impaired ability to walk
  • 8.6 hearing impairment (1.6 severe hearing
  • 7.5 associated neurological disorder
  • 4.3 cerebral palsy
  • 3.7 blind
  • 3.2 hydrocephalic
  • 1.1 fetal alcohol syndrome

Associations with Medical Disorders
  • Fombonne (2003)
  • reported on 15 studies
  • rates from 0 16.7
  • mean 6
  • Gillberg and Coleman (1996) about 25
  • Rutter et al (1994) I think more accurate at 10

Associations with Medical Disorders
  • In general the proportion of cases attributable
    to specific medical conditions is low and
    identifying clear causal relationships is complex
  • Speculations of such associations were usually
    based on case reports
  • For example it was established clinical
    impression that there was a strong relationship
    between autism and congenital rubella this
    idea had to be revised because it became
    apparent that cases became less autistic with
    the passage of time.

Associations with Medical Disorders
  • Data does not suggest more than chance
    associations between autism and
  • Downs syndrome
  • Congenital rubella
  • Cerebral palsy
  • Phenylketonuria
  • Neurofibromatosis

Associations with Medical Disorders
  • However
  • 4 of autistic children have fragile X syndrome
  • (Dykens and Volkmar 1997)
  • Rates of autism are increased in tuberous
  • (Smalley et al 1992)
  • Infants with sensory handicaps may present with
    autistic like symptoms because of unusual
    movements and / or language difficulties, but
    usually the criteria for DSM Autistic disorder
    are not met.

Associations with Medical Disorders
  • Epilepsy
  • In various studies rates from 5 38.3
  • Mental retardation in autism is predictive for
    the development of seizures
  • Rates are highest in adolescents and adults up
    to 1/3 may have seizures
  • (However in 1 study (Rutter et al 1994) 39 of
    children under age 3 years had seizures. A UK
    study using narrow diagnostic criteria i.e.
    severe classical cases)

Recommended testing
  • Theories abound about causes for autism, very few
    have good supporting evidence - use accredited
  • Significant language, learning problems in
    addition to ASD karyotyping, Fragile X
  • If regression and developmental delay ? testing
    for Rett Syndrome (MECP2 gene)
  • Pica lead levels (no need for routine screening
    for lead toxicity of all children suspected of
    having an ASD)
  • Inadequate diet due to pickiness iron
    deficiency anemia.
  • Creatinine phosphokinase (CPK) boys,
    developmental, language, and walking delay
  • If in the second year, a child shows regression
    or an unusual pattern of behaviour, consideration
    should be given to looking for a seizure
    disorder. EEG studies should then be done. EEGs
    need not be done routinely on all children with
  • Only in the presence of suspicion that a child
    has Tuberous Sclerosis, or in some cases, an
    unusual finding on EEG, should tests such as CT
    scanning or MRIs be done

Recommended testing
  • There is no evidence to support testing
  • urinary peptides
  • vitamin/mineral profiles
  • intestinal antibodies
  • hair analysis
  • American Academy of Child and Adolescent
    Psychiatry (1999)
  • American Neurological Society (2000)
  • National Initiative for Autism in the United
    Kingdom (2002)

Cognitive Function
  • Fombonne (2003) 40 severe retardation
  • 30 mild to moderate retardation
  • 30 normal intellect
  • Includes all subtypes classical, Aspergers
    syndrome and PDD-NOS
  • Classical autism
  • 75 severe to profound mental retardation

Associations with Psychiatric Disorders
  • Numerous reports of associations with
    behavioural disorders
  • Are such associations greater than would be
    expected by chance alone?
  • Are such symptoms and behavioural manifestations
    part of the primary autistic condition or the
    manifestation of other comorbid conditions? (Tsai

Associations with Psychiatric Disorders
  • Associations include
  • Oppositional behaviour
  • Anxiety
  • Depression
  • Hyperactivity
  • Poor attention
  • Tics
  • Obsessive and compulsive behaviour
  • Volkmar et al Practice Parameters for the
    Assessment and Treatment of Children,
    Adolescents and Adults with Autism and Other
    pervasive Developmental Disorders. J. AM. ACAD.
    CHILD ADOLESC PSYCHIATRY. 3812 Supplement,
    December 1999

Associations with Psychiatric Disorders
  • Diagnosis of these disorders is particularly
    difficult in individuals who are largely or
    entirely mute or function in the severely or
    profoundly mentally retarded range
  • Diagnosis of these associated problems in higher
    functioning individuals (e.g. the gifted,
    Aspergers disorder, high functioning autism etc)
    may result in functional diagnoses of
  • Generalized anxiety disorder
  • Social anxiety disorder
  • Obsessive compulsive disorder
  • Schizoid, schizotypal, avoidant or other
    personality disorders
  • In some cases these may be assumed to be primary
    diagnoses standing alone and mask exploration of
    underlying autistic spectrum disorders. This can
    be particular problem in adult psychiatry

Associations with Psychiatric Disorders
  • Obsessive compulsive problems probably occur
    with equal frequency across the spectrum but
    manifest differently as a property of severity
    and degree of cognitive delay, for example
  • A severely autistic person with severe to
    profound IQ delay may sit and arrange blocks or
    spin wheels in a purposeless manner
  • A higher functioning person may demonstrate
    sophisticated rituals or want to count in binary
    or insist on relating all numbers to degrees