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Title: Understanding Autistic Spectrum Disorders: What they are and what to do about them' Family Practice


1
Understanding Autistic Spectrum Disorders What
they are and what to do about them.Family
Practice Review and Update Course. November 22nd
2006
  • Dr. Jennifer E. Fisher M.B., B.S., MRCPsych,
    FRCP(C)
  • Clinical Associate Professor
  • Departments of Psychiatry and Paediatrics
  • The University of Calgary

2
Autism and Autistic Spectrum Disorders
Part I Theory Classification, epidemiology,
clinical subtypes, medical and psychiatric
comorbidities and aetiology Part II Practice
Assessment, management and treatment
3
Further Information
  • My Web Site
  • URL http//www3.telus.net/jenniferfisher
  • Click on Professional Site link and go to
  • Family Practice Review 2006 link
  • CAIRN Web Site
  • (Canadian Autism Intervention Research Network )
  • URL http//www.cairn-site.com

4
Part IDefinition
  • The Pervasive Developmental Disorders (PDD) are
    a group of neurodevelopmental / neuropsychiatric
    disorders characterized by specific delays and
    deviance in social, communicative and cognitive
    development with an early onset, typically in the
    first years of life. Although commonly
    associated with mental retardation, these
    disorders differ from other developmental
    disorders in that their developmental and
    behavioural features are distinctive and do not
    simply reflect developmental level
  • (Rutter, 1978)

5
Concerns about the current situation
  • The massive increase in reported prevalence over
    the last decade
  • DSM and "cook-book" diagnosis, over-diagnosis
  • Service provision and diagnostic requirements
  • The pathologizing of gifted individuals
  • Is the spectrum a valid construct?
  • Unconventional ideas regarding aetiology
  • Unproven and unorthodox treatments
  • The clear lack of evidence based thinking

6
Definition
  • The Genetics of Autism
  • (PEDIATRICS Vol. 113 No. 5 May 2004, pp. 472-486)
  • 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.

7
History
  • Eugene Bleuler 1911 First use of the word
    autism.
  • The three As of schizophrenia altered
    association, altered affectivity,
    ambivalence.
  • Kretschmer 1924 Schizoid Character,
    Schizothymia in Average People, Detached
    Idealism
  • Ssucharewa 1926 Boys with Schizoid personality
    disorder
  • Leo Kanner 1943 Autistic disturbances of
    affective contact
  • Hans Asperger 1944 High Functioning autism
  • Van Krevelen et al 1962 Autistic psychopathy
  • Van Krevelen 1971
  • Wurst 1974
  • Dauner and Martin 1978
  • APA Pervasive developmental disorder (PDD)
  • Newson 1970 More able autistic people
  • DeMeyer et al 1981 High functioning Autism
  • Wing 1981 coined the term Aspergers Syndrome
    (AS)

8
Autism and Schizophrenia
(Web Link) Israel Issy Kolvin (1929 2002)
There was long standing confusion between
infantile autism, childhood psychosis and
schizophrenia. The seminal work of Kolvin and
his group (part of the Newcastle Group) in the
early 1970s separated schizophrenia from autism.
It was thought, prior to Kolvin that many adult
schizophrenics had childhood histories of autism
and a high proportion of childhood autists became
schizophrenic. Studies in the childhood
psychoses. I. Diagnostic criteria and
classification Kolvin, Br. J. Psychiatry. 1971
Apr 118(545)381-4 Studies in the childhood
psychoses. II. The phenomenology of childhood
psychoses. I Kolvin, C Ounsted, M Humphrey, A
McNay. Br. J. Psychiatry. 1971 Apr,
118(545)385-95
9
DSM III 1980
  • Autism (as we know the concept today) did not
    become a diagnostic entity until 1980 when
    operational criteria for infantile autism
    were established.
  • - onset before 30 months of age
  • - lack of responsiveness to other human beings
  • - gross impairment in communication and
    language
  • - bizarre responses to the environment
  • (American Psychiatric Association. Diagnostic and
    Statistical Manual of Mental Disorders, 3rd
    edition. Washington (DC)
  • American Psychiatric Association 1980)

10
The DSM-IV Pervasive Developmental Disorders
  • Autistic Disorder
  • Retts Disorder
  • Childhood Disintegrative Disorder (CDD)
  • Aspergers Disorder (AD)
  • Pervasive Developmental Disorder Not Otherwise
    Specified
  • (PDD-NOS)

11
  • Clarity?

12
Not in the least!
  • The late 1980s and 1990s exploded with a host of
  • new diagnoses
  • High functioning autism
  • Sensory Integration Dysfunction
  • 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

13
Autistic symptoms
  • Also associated with
  • Gilles de la Tourettes Syndrome
  • Obsessive Compulsive Disorder
  • Social Anxiety Disorder
  • Disorders of Written Expression
  • Developmental Coordination Disorder

14
Not only was there an explosion in
diagnosesbut also in theories of causation
  • Vaccination
  • Diet
  • Electromagnetic waves (power cables)
  • Infection
  • Pollutants
  • Abnormal trace elements
  • Allergies (to almost everything!)
  • etc, etc ,etc

15
(No Transcript)
16
An occupational hazard of academics attempting to
classify and understand the autistic spectrum
Ha! Websters blown his cerebral cortex
17
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.

18
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 primary autistic
    symptoms
  • (ADI measures of reciprocal social
    interaction, repetitive movements and
    communication)
  • Dimension II representing level of functioning
  • (VAB measures of socialization,
    communication, motor skills, daily living
    skills)
  • (Szatmari et al Quantifying Dimensions in
    Autism A Factor-Analytic Study.
  • J. Am. Acad. Child Adolesc. Psychiatry, 414,
    April 2002)

19
Standardized Assessment Tools
  • Establishing robust dimensions of symptoms leads
    to the development of reliable, sensitive and
    valid diagnostic instruments
  • The Autism Diagnostic Interview-Revised (ADI-R,
    Lord et al. 1994).
  • The Autism Diagnostic Observation Schedule
    Generic (ADOS-G, Lord et al. 1989).
  • ADI-R a semistructured, 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 milestones.
  • ADOS a semistructured, standardized
    observational 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.

20
Why is it important to identify robust domains of
symptoms?
  • 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

21
Functional neuroimaging techniques
  • Positron Emission Tomography (PET)
  • functional Magnetic Resonance Imaging (fMRI)
  • Magnetic Resonance Spectroscopy (MRS)
  • Magnetoencephalogram (MEG)
  • are beginning to correlate and map observed
    symptom complexes (as measured by standardized
    instruments, such as the ADI and ADOS) with
    aspects of cognitive functioning (including
    social cognition) to regional brain areas.

22
The DSM IV Pervasive Developmental Disorders
  • Autistic disorder
  • Retts disorder
  • Childhood Disintegrative disorder
  • Aspergers syndrome
  • PDD-NOS

23
Autistic disorder
Kanners syndrome, classical autism Web link to
the original paper (Kanner, L. Autistic
disturbances of affective contact. Nervous Child
1943 2217)
24
Symptoms
  • Absence or impairment of imaginative and social
    play
  • Impaired ability to make friends with peers
  • Impaired ability to initiate or sustain a
    conversation with others
  • Stereotyped, repetitive, or unusual use of
    language
  • Restricted patterns of interests that are
    abnormal in intensity or focus
  • Apparently inflexible adherence to specific
    routines or rituals
  • Preoccupation with parts of objects
  • Delays and or regression must occur before age
    three

25
Retts disorder
  • Progressive developmental delay, mainly girls, 1
    / 20,000
  • Normal early infancy then deceleration in head
    circumference between 5 and 48 months
  • Loss of fine motor skills and characteristic hand
    wringing movement develops
  • Lower limb and trunk weakness leading to wide
    based gait
  • Then language loss and delay
  • Decreased interest in the environment and social
    interaction appear autistic
  • (Included in DSM IV to allow clinician to make
    differential diagnosis)

26
Childhood Disintegrative disorder
  • Hellers syndrome
  • Rare progressive disorder, prevalence 1.7 /
    100,000
  • Commoner in males
  • Usually 2 years of normal development in all
    spheres
  • To meet criteria the child must manifest
    deterioration in 2 of the following areas
  • Language
  • Social skills or adaptive behaviour
  • Bowel or bladder control
  • Play skills
  • Motor skills
  • Clinical presentation is very similar to
    classical autism but worse outcome
  • (Included in DSM IV to allow clinician to make
    differential diagnosis)

27
Aspergers syndrome
Asperger, H. Die Autistichan Psychopathen im
kindersalter Archive fur Psychiatrie und
Nervenkrankheiten 1944 117 76-136.
28
Aspergers syndrome
  • Impaired social interaction
  • Restricted range of interests and activities
  • Early language skills preserved but communication
    skills impaired (pragmatics)
  • Conversational ability hampered for example by
    intense interests in certain topics (trains,
    weather, electricity, space, dinosaurs and
    factual lists)
  • Can speak incessantly little professors
    using unusual words and phrases
  • Numerous faux pas
  • Motor delays are common
  • Usually of normal intellect but frequently have
    learning disabilities

29
PDD not otherwise specified (PDD-NOS)
  • This diagnosis is used for children who do not
    fit the other categories
  • Often reserved for the odd children sometimes
    known as bubble children
  • DSM IV is somewhat ambiguous and does not lay out
    clear criteria
  • Open to much interpretation
  • Frequently used

30
Epidemiology
  • Prevalence rates have increased over the last
    decade
  • ? a true increase
  • ? related to shifting diagnostic criteria and
    categories
  • ? due to international differences (DSM vs
    ICD-10)
  • ? a fashionable diagnosis
  • ? better education of teachers, psychologists and
    physicians
  • Rates of classical autism have increased, but
    modestly
  • Rates of Retts disorder and CDD have not
    increased
  • Rates of Aspergers syndrome and PDD-NOS have
    risen a great deal
  • Then we have all of the other associated
    diagnoses (described above) that have become
    fashionable in the last 10 to 15 years - and
    these are often inappropriately used
    interchangeably with Aspergers and PDD-NOS

31
Epidemiology
  • Frombonne (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 / 10,00
  • PDD 15 / 10,000

32
Epidemiology
  • Autistic Spectrum Disorders
  • All diagnoses taken together
  • 57.9 to 67.5 / 10,000

33
Epidemiology
  • Sex ratio male female ranges from 1.33 to
    16.0. Mean 4.3
  • Social class no SES differences
  • Ethnicity likely no differences for classical
    autism
  • ? AS and PDD more fashionable diagnoses in
    Western culture

34
Cognitive FunctionFrombonne (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

35
An interesting study
  • The Changing Prevalence of Autism in California
  • Croen, LA., Grether, JK., Hoogstrate, J., Selvin,
    S.
  • Journal of Autism and Developmental Disorders.
    June 2002, 32, 3 207-215
  • Abstract We conducted a population-based study
    of eight successive California births cohorts to
    examine the degree to which improvements in
    detection and changes in diagnosis contribute to
    the observed increase in autism prevalence.
    Children born in 1987-1994 who had autism were
    identified from the statewide agency responsible
    for coordinating services for individuals with
    developmental disabilities. To evaluate the role
    of diagnostic substitution, trends in prevalence
    of mental retardation without autism were also
    investigated. 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, for an
    absolute change of 9.1 per 10,000. The pattern of
    increase was not influenced by maternal age,
    race/ethnicity, education, child gender, or
    plurality. During the same period, the prevalence
    of mental retardation without autism decreased
    from 28.8 to 19.5 per 10,000, for an absolute
    change of 9.3 per 10,000.
  • These data suggest that improvements in
    detection and changes in diagnosis account for
    the observed increase in autism whether there
    has also been a true increase in incidence is not
    known.

36
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.

37
Associations with Medical Disorders
  • Data does not suggest more than chance
    associations between autism and
  • Downs syndrome
  • Congenital rubella
  • Cerebral palsy
  • Phenylketonuria
  • Neurofibromatosis

38
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
    loss)
  • 7.5 associated neurological disorder
  • 4.3 cerebral palsy
  • 3.7 blind
  • 3.2 hydrocephalic
  • 1.1 fetal alcohol syndrome

39
Associations with Medical Disorders
  • Overall about 10 have associated medical
    disorders
  • (Rutter et al 1994)

40
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)

41
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
    1996)

42
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

43
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

44
Associations with Psychiatric Disorders
  • It is reasonable to assume that lower
    functioning individuals and those closer to a
    diagnosis of classical autism have a greater
    frequency of
  • behavioural difficulties
  • hyperactivity
  • mood lability
  • self injury
  • manneristic and stereotypic movements
  • Higher functioning individuals have more
    evidence of manifest and self described
  • anxiety
  • social phobia
  • depression

45
Aetiology
  • Over the years numerous factors and associations
  • have been implicated
  • linkages to medical and developmental disorders
  • pregnancy and birth complications
  • environmental toxins (lead, mercury etc)
  • other toxic trace metals (a huge list)
  • allergies from foods to the world we live
    in .
  • electromagnetic pollution
  • psychodynamic theories
  • genetic leading to neurodevelopmental
    differences
  • vaccination
  • etc etc (the list is huge)

46
Aetiology
  • Most agree there is compelling evidence for
    abnormal brain development resulting in regional
    brain abnormalities at the gross and
    microanatomical levels and at the biochemical and
    neurophysiological levels.
  • however

47
Aetiology
  • Attachment disorder
  • Maternal deprivation
  • Psychosocial dwarfism
  • Refrigerator mothers

48
Aetiology
  • The absence of consistent biological markers
    across all cases and the heterogeneity of the
    manifestations of autism have slowed research
    into its pathophysiology
  • But imaging techniques (MRI, fMRI, MRS, PET and
    MEG) are beginning to map out neural systems
    affected in autism.
  • These include brain areas responsible for
  • Emotional and social function
  • Perceptual systems specific to face and affect
    recognition
  • Social-cognitive systems involved in
    understanding interaction with others
  • The full syndrome likely involves insults to
    multiple systems

49
Aetiology
  • Nearly every neural system has been proposed at
    some point as a possible cause
  • Given that 70 of classic autists have MR it is
    a considerable challenge to disentangle the
    causative processes specific to autism from the
    ubiquitous confound of cognitive disability
  • Recent research data strongly suggests
    involvement of
  • Temporal lobes
  • Frontal lobes
  • Components of the amygdala

50
Aetiology
  • The current working hypothesis
  • A limbic system abnormality, especially the
    amygdala and its functional partners the
    temporal and frontal cortices

51
Web link
  • Neurofunctional Models of Autistic Disorder and
    Asperger Syndrome Clues from Neuroimaging
  • RT. Shultz, Ph.D. , LM. Romanski, Ph.D. , and K
    Tsatsanis, Ph.D.
  • Child Study Center, Yale University, New Haven,
    CT , Section of Neurobiology, Yale University
    School of Medicine, New Haven, CT
  • In A. Klin, F.R Volkmar S.S Sparrow (Eds.)
    Asperger Syndrome.
  • New York Guilford Press, 2000, 172-209

52
Aetiology
  • Neurochemistry
  • 5-hydroxytrypamine (5-HT, serotonin)
  • Shain and Freedman (1961) found elevated levels
    of platelet 5-HT in autistic individuals
  • Pylogenetically an ancient system with extensive
    CNS projections
  • 5-HT has a key role in sensory gating, appetite,
    behavioural inhibition, aggression, sleep, mood,
    neuroendocrine secretion
  • Especially rich 5-HT innervation of limbic areas
    critical for emotional expression and social
    behaviour that is amygdala, temporal lobes and
    frontal lobes

53
Aetiology Genetics
  • For review see (Web link)
  • The Genetics of AutismRebecca Muhle, BA,
    Stephanie V. Trentacoste, BA and Isabelle Rapin,
    MDPEDIATRICS Vol. 113 No. 5 May 2004, pp.
    472-486

54
The vaccination controversy
  • The issues of regression in autism came to the
    forefront as part of the measles, mumps, rubella
    (MMR) vaccine controversy
  • Wakefield (1998) described a small group of
    children with autism who had diarrhea and who
    lost previously acquired developmental skills
    after receiving MMR vaccination at 15 months.
  • Taylor et al (2002) found no association
  • Numerous studies since then have not confirmed an
    association
  • Wakefield A. Ilial-lymphoid-nodular hyperplasia,
    non-specific colitis and pervasive developmental
    disorder in children. Lancet 1998 351637-41
  • Taylor B et al. Measles, mumps and rubella
    vaccination and bowel problems or developmental
    regression in children with Autism population
    study. BMJ 2002 324393-6

55
Vaccines and mercury
  • There has also been controversy about the
    relation between high mercury levels in children
    with autism and the use of thimerosal in
    vaccines.
  • The hypothesis is that vulnerable children will
    develop neurodevelopmental problems secondary to
    the neurotoxic effect of mercury.
  • There is no evidence supporting this.
  • Thimerosal has not been present in Canadian
    vaccines since 1992, except in one preparation of
    the hepatitis B vaccine that children receive at
    birth. This vaccine contains mercury levels well
    below safety estimates (12.5 mcgm Hg)
  • Nelson K, Bauman M. Thimerosal and autism.
    Paediatrics 2003 111674-9

56
Web link
  • SEPARATING FACT FROM FICTION IN THE ETIOLOGY AND
    TREATMENT
  • OF AUTISM
  • A Scientific Review of the Evidence
  • J.D. Herbert, I.R. Sharp, B.A. Gaudiano

57
Autism and Autistic Spectrum Disorders
  • Part II Practice
  • Assessment, management and treatment

58
Assessment Detection
  • With the advent of standardized diagnostic tools
    (ADI-Revised, ADOS-G) expert clinicians can
    reliably diagnose autism by age 2
  • But most children are not diagnosed until age 4
    to 5 years
  • Typically 2 to 3 years after parents first seek
    professional help
  • Parents often sense there is something wrong
    with their childs relatedness or how
    connected their child is with others and / or
    the environment or that their language is delayed

59
Assessment Detection
  • Parents often feel brushed off by physicians
  • yes he quiet he will grow out of it
  • she is just a girl all girls are shy
  • dont worry
  • Most children are seen by at least three
    professionals for assessment prior to diagnosis

60
Consensus Panel 2000
  • American Academy of Neurology
  • American Academy of Pediatrics
  • American Academy of Child and Adolescent
    Psychiatry
  • Population based screening in two stages
  • Routine developmental surveillance (including
    measures to detect general developmental delay)
  • Specifically to detect delayed speech

61
Screening Instruments
  • Checklist for Autism in Toddlers (CHAT)
  • The Quantitative CHAT (Q-CHAT)
  • The Modified CHAT (M-CHAT)
  • The Screening Test for Autism (STAT)
  • The Pervasive Developmental Disorders Screening
    Test II (PDDST-II)
  • The Early Screening for Autism Questionnaire
    (ESA)
  • All of these sound wonderful
  • BUT
  • What about the toddler in the family doctors
    office?

62
Detection
  • Education of family practitioners about early
    development
  • Knowing what questions to ask
  • Knowing how to ask questions
  • Most parents (usually the mothers) present with
    questions that something is wrong but they
    cant put their finger on it

63
Screening Questions
  • Alerts for developmental concern
  • Pregnancy severe bleeding, infection, concerns
    re fetal growth, alcohol and drug use.
  • medications, herbs, natural remedies (??)
  • Delivery major problems, prematurity, severe
    fetal distress
  • Neonatal lengthy NICU admissions, complications
    of prematurity, severe neonatal disease /
    infection, seizures

64
Screening Questions
  • Developmental Milestones
  • Motor crawling and walking
  • Language and communication skills
  • (full details of normal language development
    appended to the end of this presentation)

65
Language Development
  • Quiet babies who do not babble and have poor gaze
  • A mother who says her baby does not respond to
    her voice
  • Babies who do not vary their cry to communicate
    their needs
  • If there is any babbling it does not progress
  • A toddler's speech and language foundation grows
    rapidly after the first birthday through age 2
    ANY DELAY IN THIS IS ALWAYS A HUGE DEVELOPMENTAL
    ALERT AND REQUIRES FURTHER INVESTIGATION
  • By age 2, children usually have between 20 and 50
    words and recognize the names of many objects.
    They also understand simple statements and
    requests, such as "all gone."

66
Screening Questions connectedness
  • Infant temperament the quiet, distant, too
    calm baby
  • Eye contact gaze avoidance, looking past
  • When you look back do you think your baby was
    too quiet or calm?
  • When did you first think something was unusual?
  • What was that?

67
Screening Questions
  • Infant muscle tone (floppy babies) and
    difficulties latching to the nipple, with a weak
    suck are alerts to developmental problems
  • A mother who reports that during infant feeding
    the baby is just there or doesnt seem to
    connect, snuggle

68
Physical Examination
  • Look at the face eyes, palpebral fissures
  • nose (saddle)
  • philtrum
  • lips
  • ears
  • (Ask the parent if the child looks different to
    siblings, relatives)
  • Muscle tone
  • Does the child look awkward, uncoordinated?

69
Physical Examination
  • Gaze
  • Eye tracking
  • Following
  • Hearing responds to and localizes sounds, volume

70
Investigations
  • If suspicious of a developmental problem with the
    above screening
  • Audiology
  • Ophthalmology
  • Paediatric referral

71
Parents Evaluation of Developmental Status (PEDS)
  • Can be used from birth to 8 years of age
  • Screens motor, language, behaviour, social
    behaviour
  • 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

72
What to tell the parent
  • If the screening questions, physical examination
    findings or audiology, ophthalmology reveal a
    problem or evidence of a deviation in
    developmental trajectory
  • simply till the parent that you are concerned
    about the childs development and further
    investigations are required

73
The Hard to Reassure Parent
  • An overly anxious parent?
  • Family history of developmental disorders
  • A missed post natal depression
  • Family problems
  • Very rarely symptom exaggeration for other
    reasons

74
High functioning autism and Aspergers syndrome.
  • Present at an older age
  • Less evidence of developmental delay but more
    evidence of developmental deviations and
    psychiatric symptoms
  • Fine motor skills (buttons, cutting)
  • Poor printing, copying
  • Anxiety
  • Obsessive rituals and routines
  • Over-interest in certain topics
  • Odd children
  • Little professors

75
Social relationships
  • Classical autism Aloof and distant
  • High functioning autism/ Asperger
  • Social oddities
  • Play alongside others
  • Hanging back in social situations

76
Specialist assessment level one
  • Very detailed history
  • Detailed physical and developmental examination
    (fragile X, tuberous sclerosis, FAS etc)
  • Audiology
  • Visual examination
  • Blood work- include TSH and possibly Pb (pica)
  • Chromosomes, fragile X
  • Metabolic studies (urine and plasma amino acids,
    organic acids)

77
Specialist assessment level two
  • EEG if history suggestive of seizures/absences
  • severe delay (motor and /or language)
  • abnormal neurological examination
  • CT/MRI not usually helpful
  • abnormal neurological examination
  • head circumference
  • abnormal facies
  • other abnormal morphological findings

78
Specialist assessment level three
  • Consultations
  • Developmental pediatrics
  • Occupational therapy (include sensory
    assessment)
  • Speech language assessment
  • Physiotherapy
  • Psychology intellectual assessment
  • Medical genetics
  • Neurology
  • Psychiatry

79
Management Plan
  • Should address
  • Establishing goals for language/communication
    interventions
  • Establishing goals for educational intervention
  • Prioritizing target symptoms/comorbid conditions
  • Monitoring multiple domains of functioning
  • Behavioral adjustment
  • Adaptive skills
  • Academic skills
  • Social/communication skills
  • Social intervention with family members and peers
  • Monitoring medications

80
Early intervention programs
  • psychosocial interventions can change the
    disorders course
  • Such programs involve highly focused and
    individualized teaching activities targeting all
    areas of development
  • Several different programs eg
  • TEACCH (Treatment and Education of Autism and
    related communications handicapped children)
  • The Denver model
  • LEAP (learning experiences and alternative
    program for preschoolers and parents)

81
Early intervention programs Lovaas
  • Lovaas IO. Behavioral treatment and normal
    educational
  • and intellectual functioning in young autistic
    children
  • J Consult Clinics Psychol 1987 55 3-9
  • Controlled study
  • Intensive and comprehensive approach
  • 40 hrs a week for 2 years during early preschool
    period.
  • remarkable gains in language and IQ
  • Claimed 50 of children no longer symptomatic
    (recovered)
  • BUT
  • significant methodological issues
  • no one has replicated results as dramatic as
    these other researchers using the Lovaas
    approach document improvement but not recovery
  • Web link
  • Lovaas Institute for Early Intervention

82
Early intervention programs
  • The literature supports
  • delivering interventions for more than 20 hours
    weekly that are individualized, well planned and
    target language development and other areas of
    skill development significantly increase
    childrens developmental rates- especially in
    language compared to no or minimal treatment
  • Bryson et al 2003

83
Early intervention programs unanswered questions
  • How many hours needed to get optimum effects?
  • Is one method better than another?
  • If recovery is not expected what are the most
    important outcomes? (social skills, language, IQ,
    adaptive skills, decrease in autistic symptoms?)
  • To what extent are these independent outcome
    variables?
  • Which is the best indicator of adult outcome?

84
Education of autistic children
  • Traditionally segregated classrooms
  • Inclusion now recommended with
  • Individual program plans IPPs
  • Educational coding
  • Teacher assistant / aide
  • Speech language therapy
  • Occupational therapy
  • Funding and access to service issues

85
Sensory Integration
  • Sensory integration is the neurological process
    of organizing the information we get from our
    bodies and from the world around us for use in
    daily life
  • Sensory integration provides a crucial foundation
    for later more complex learning and behavior and
    to adapt to the environment
  • Sensory integration dysfunction is a complex
    neurological disorder, manifested by difficulty
    detecting, modulating, discriminating or
    integrating sensation adaptively.
  • This causes children to process sensation from
    the environment or from their bodies in an
    inaccurate way, resulting in "sensory seeking" or
    "sensory avoiding" patterns or "dyspraxia", a
    motor planning problem

86
Signs of Sensory Integrative Dysfunction
  • Overly sensitive to touch, movements, sights, or
    sounds.
  • Behavior issues distractible, withdrawal when
    touched, avoidance of textures, certain clothes,
    and foods. Fearful reactions to ordinary movement
    activities such as playground play. Sensitive to
    loud noises. May act out aggressively with
    unexpected sensory input.
  • Under reactive to sensory stimulation. Seeks out
    intense sensory experiences such as body
    whirling, falling and crashing into objects. May
    appear oblivious to pain or to body position. May
    fluctuate between under and over-responsiveness.
  • Unusually high/low activity level. Constantly on
    the move or may be slow to get going, and fatigue
    easily. Coordination problems.

87
Sensory Integration Strategies
  • Some examples of treatment approaches
  • Oral sensory motor development can be aided by
    whistles, blowers and bubble blowing kits.
  • Fine motor A number of toys like cone and ball
    catch, puppets etc
  • For kids with fidgety fingers many blocks, fixes
    etc that help them focus.
  • Gross motor Bean bags, Therabands
  • Vestibular and Proprioception Swings,
    trampoline.
  • Tactile Fabrics, brushes
  • High arousal / anxiety weighted jackets,
    squishes

88
Web Links Sensory Integration
  • Fast Facts on Developmental Disabilities
  • A good overview
  • A School Psychologist Investigates Sensory
    Integration Therapies
  • Promise, Possibility, and the Art of Placebo.
  • Steven R. Shaw, NCSP NASP Communiqué October 2002
  • Quite a good critical article

89
Alternative treatments
  • No other group seems drawn to exposing their
    children to unproven and sometimes dangerous
    treatments more than the parents of autistic
    children
  • 1/3 to 1/2 of all families use these
  • Vitamins (high dose B6 and magnesium especially
    popular)
  • Minerals
  • Herbs
  • Diets gluten free, sugar free, anti-yeast
    (fungal), casein free etc
  • Dimenthylglycine (DMG)
  • Secretin
  • Cranio-sacral-therapy
  • Trans cranial magnetic fields
  • Chelation
  • Auditory integration training
  • Irlen lens system
  • Homeopathy etc, etc

90
Social skills training, social scripts and social
stories
  • A method for teaching verbal individuals
    (including high functioning autism and
    Asperger's) the unwritten social rules and body
    language signals that people use in social
    interaction and conversation.
  • Carol Gray uses a technique called "social
    stories" to help illustrate these social rules in
    a variety of situations and appropriate
    responses. Social stories and "scripting" are
    also used with nonverbal individuals to teach
    appropriate responses and prepare the individual
    for transitions.
  • In very young child, they may be in the form of
    photographs or pictures.
  • For an excellent Web Site on this treatment
    intervention, go here
  • The Gray Center for Social Learning and
    Understanding

91
Alternative treatments Web links
  • SEPARATING FACT FROM FICTION IN THE ETIOLOGY AND
    TREATMENT OF AUTISM
  • A Scientific Review of the Evidence
  • J.D. Herbert, I.R. Sharp, B.A. Gaudiano
  • An excellent paper
  • Cure Autism Now
  • The official site of the Autism Research
    Institute founded by Dr. Bernard Rimland, PhD.
    A controversial figure who has, many have said,
    given much false hope to families of autistic
    children.

92
Local Calgary Resources
  • Web Links
  • The Society for the Treatment of Autism
  • Autism Calgary
  • Both Sites contain excellent information and
    links.
  • Dont hesitate to contact them if you need any
    help!

93
Psychopharmacological management
  • No curative treatment
  • Medications usually used sparingly and mostly in
    children with troubling comorbid conditions or
    maladaptive behaviours
  • Much of the information available regarding
    psychotropic use has been gathered in adults and
    transposed down
  • Many single case reports and open studies
  • Few double blind, placebo controlled studies
  • Off label
  • Interactions with natural treatments always
    ask

94
Psychopharmacological management neuroleptics
  • Although there is no strong evidence of dopamine
    involvement neuroleptics have been used for many
    years to control aggression, stereotypic
    behaviours, tics and impulsivity.
  • Atypical neuroleptics risperidone, olanzepine,
    quetiapine
  • Before starting CBC, ALT, fasting BS, lipids,
    cholesterol, prolactin, ECG
  • Side effects appetite and weight increase, type
    II diabetes, lipid changes, cardiac arrhythmias
    (QTc interval), EPS, TD
  • Monitoring repeat blood work and ECG at 3 and 6
    month, then annually, 6 monthly AIMS, physical
    examination for EPS and TD. Height / weight /
    growth chart each 3 months
  • Risperidone has literature support

95
Psychopharmacological management SSRIs
  • Clear evidence of abnormal brain 5-HT
  • SSRIs target anxiety, obsessions, stereotypic
    movements, mood stability
  • Fluoxetine, paroxetine, fluvoxamine, sertraline,
    citalopram, venlafaxine. Also the TCA
    clomipramine
  • Side effects sedation, agitation, high arousal,
    increased risk of suicidal ideation, withdrawal
    syndrome

96
Psychopharmacological management stimulants
  • Mixed responses in autism
  • Methylphenidate, Concerta, dexedrine (Adderal),
    atomoxifine
  • Target hyperactivity, impulsivity,
    distractibility
  • Side effects appetite suppression, sleep
    disturbances, worsening of tics, obsessions,
    stereotypic movements, agitation, mood lability
  • Dosage always introduce at low dose and increase
    slowly
  • Stimulants can dramatically successful or
    dramatically disastrous!

97
Psychopharmacological management anticonvulsants
  • Used mainly as mood stabilizers and to reduce
    affective lability
  • Seizures
  • Carbemazepine, valproic acid, toprimate,
    gabapentin
  • The relationship between seizures and behaviour
    is complex
  • Usually need to monitor blood levels, WBC, LFTs
  • It is uncertain whether the recommended serum
    levels used for the treatment of epilepsy apply
    when these drugs are used as mood stabilizers
  • No controlled study evidence

98
Psychopharmacological management others
  • Anxiolytics, benzodiazepines anxiety, mood
  • Buspirone anxiety, mood
  • Naltrexone hydrochloride self abuse, stereotypic
    movements
  • Beta blockers anxiety, aggression
  • Amantadine antiparkinsonian ?improves
    development progress

99
Summary
  • Early developmental screening is critical
    population based
  • Office screening is fairly straight forward
  • Although a nuisance knowing the details of
    language development is critical
  • Never dismiss a mothers feelings
  • The mainstay of management rests on psychosocial
    interventions
  • speech language and communication therapy
  • occupational therapy
  • behavioural therapy
  • possibly sensory integration therapy
  • social scripting and social stories
  • Coordination of the clinical team is critical
  • Advocacy
  • Medical interventions, although they can be
    helpful, are at most as adjunct

100
Further Information
  • My Web Site
  • URL http//www3.telus.net/jenniferfisher
  • Click on Professional Site link and go to
  • Family Practice Review 2006 link
  • CAIRN Web Site
  • (Canadian Autism Intervention Research Network )
  • URL http//www.cairn-site.com

101
Appendices
102
Normal Language Development
  • Birth to age one
  • Babies begin to process the communication signals
    they receive.
  • During the first months of life, they are usually
    able to recognize their mother's voice and
    actively listen to language rhythms.
  • By 6 months of age, most babies express
    themselves through cooing with vowels and one or
    two consonants.
  • This progresses to babbling and repeating sounds.
    In addition, babies learn to vary their cry to
    communicate their needs.
  • By their first birthday, babies understand and
    can identify each parent, often by name ("mama,"
    "dada"). They repeat sounds they hear and may
    know a few words.

103
Normal Language Development
  • Age one to three
  • A toddler's speech and language foundation grows
    rapidly after the first birthday through age 2.
  • 1-year-olds learn that words have meaning. They
    point to things they want and often use one or
    two-syllable sounds, such as "baba" for "bottle.
  • By age 2, children usually can say between 20 and
    50 words and recognize the names of many objects.
    They also understand simple statements and
    requests, such as "all gone."

104
Normal Language Development
  • Age one to three continued
  • Many 2-year-olds talk a lot. They usually can
    name some body parts (such as arms and legs) and
    objects (such as a book). Not all their words are
    intelligible some are made-up and combined with
    real words.
  • In addition to understanding simple requests,
    they can also follow them (such as "put the book
    on the table"). They usually can say between 150
    to 200 words, some of which are a simple two-word
    combination, such as "want cookie." Pronouns
    (like "me" or "she") are used, but often
    incorrectly.
  • It is also normal for a child to be fairly quiet.
    Quiet children who communicate through gestures
    and facial expressions are likely to develop
    normal language skills.

105
Normal Language Development
  • Age three to five
  • More sophisticated speech and language develops
    from ages 3 through 5.
  • By age 3, children learn new words quickly and
    can follow two-part directions (such as "wash
    your face and put your shoes away").
  • They start to use plurals, short complete
    sentences, and most of the time can be understood
    by others outside of their family. "Why" and
    "what" become popular questions.
  • 4-year-olds use longer sentences and can describe
    an event. They understand how things are
    different, such as the distinction between
    children and grown-ups.
  • 5-year-olds usually can carry on a conversation
    with another person.

106
Web LinkPractice 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
  • The full text of the Practice Parameters a long
    document, however it covers all the aspects of
    diagnosis, investigation and treatment.

107
Aetiology
  • Amygdala a critical role in
  • Emotional arousal
  • Assigns significance to environmental stimuli
  • Mediates formation of visual-reward associations
  • (emotional learning)
  • Numerous afferent and efferent connections to
    temporal lobes

108
Aetiology
  • Temporal lobes
  • Persons with autism have deficits in
  • Facial recognition
  • Discrimination of faces
  • Understanding facial expression
  • fMRI and lesion data reveal consistent evidence
    of hypoactivation of the fusiform gyrus (located
    on the underside of the temporal lobes)

109
Aetiology
  • Frontal lobes
  • Older studies suggested general hypoactivation
  • In the last 10 years data is converging to show
    that sub-regions of the prefrontal cortex (the
    orbital and medial prefrontal cortices) have
    especially rich reciprocal connections with the
    limbic system (especially the amygdala) and are
    critical for social cognition that is,
    thinking about thoughts, feelings and intentions
  • Leading to a hypothesis known as
  • Theory of Mind
  • (Web link)
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