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

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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

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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
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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

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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)

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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

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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.

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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)

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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
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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)

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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)

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• Clarity?

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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

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Autistic symptoms

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

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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

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

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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)

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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.

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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

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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.

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The DSM IV Pervasive Developmental Disorders

• Autistic disorder
• Retts disorder
• Childhood Disintegrative disorder
• Aspergers syndrome
• PDD-NOS

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Autistic disorder
Kanners syndrome, classical autism Web link to
the original paper (Kanner, L. Autistic
disturbances of affective contact. Nervous Child
1943 2217)
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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

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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)

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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)

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Aspergers syndrome
Asperger, H. Die Autistichan Psychopathen im
kindersalter Archive fur Psychiatrie und
Nervenkrankheiten 1944 117 76-136.
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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

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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

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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

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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

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Epidemiology

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

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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

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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

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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.

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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.

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Associations with Medical Disorders

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

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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

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Associations with Medical Disorders

• Overall about 10 have associated medical
  disorders
• (Rutter et al 1994)

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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)

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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)

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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

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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

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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

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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)

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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

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Aetiology

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

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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

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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

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Aetiology

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

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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

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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

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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

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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

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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

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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

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Autism and Autistic Spectrum Disorders

• Part II Practice
• Assessment, management and treatment

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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

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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

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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

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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?

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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

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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)

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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."

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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

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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?

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Physical Examination

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

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Investigations

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

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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

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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

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Social relationships

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

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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)

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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

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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)