Title: Understanding Autistic Spectrum Disorders: What they are and what to do about them' Family Practice
1Understanding 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
2Autism and Autistic Spectrum Disorders
Part I Theory Classification, epidemiology,
clinical subtypes, medical and psychiatric
comorbidities and aetiology Part II Practice
Assessment, management and treatment
3Further 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
4Part 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)
5Concerns 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
6Definition
- 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.
7History
- 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)
8Autism 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
9DSM 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)
10The 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 12Not 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
13Autistic symptoms
- Also associated with
- Gilles de la Tourettes Syndrome
- Obsessive Compulsive Disorder
- Social Anxiety Disorder
- Disorders of Written Expression
- Developmental Coordination Disorder
14Not 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)
16An occupational hazard of academics attempting to
classify and understand the autistic spectrum
Ha! Websters blown his cerebral cortex
17Autistic 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.
18Szatmari 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)
19Standardized 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.
20Why 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
21Functional 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.
22The DSM IV Pervasive Developmental Disorders
- Autistic disorder
- Retts disorder
- Childhood Disintegrative disorder
- Aspergers syndrome
- PDD-NOS
23Autistic disorder
Kanners syndrome, classical autism Web link to
the original paper (Kanner, L. Autistic
disturbances of affective contact. Nervous Child
1943 2217)
24Symptoms
- 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
25Retts 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)
26Childhood 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)
27Aspergers syndrome
Asperger, H. Die Autistichan Psychopathen im
kindersalter Archive fur Psychiatrie und
Nervenkrankheiten 1944 117 76-136.
28Aspergers 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
29PDD 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
30Epidemiology
- 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
31Epidemiology
- 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
32Epidemiology
- Autistic Spectrum Disorders
- All diagnoses taken together
- 57.9 to 67.5 / 10,000
33Epidemiology
- 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
34Cognitive 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
35An 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.
36Associations 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.
37Associations with Medical Disorders
- Data does not suggest more than chance
associations between autism and - Downs syndrome
- Congenital rubella
- Cerebral palsy
- Phenylketonuria
- Neurofibromatosis
38Associated 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
39Associations with Medical Disorders
- Overall about 10 have associated medical
disorders - (Rutter et al 1994)
40Associations 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)
41Associations 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)
42Associations 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
43Associations 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
44Associations 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
45Aetiology
- 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)
46Aetiology
- 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
47Aetiology
- Attachment disorder
- Maternal deprivation
-
- Psychosocial dwarfism
- Refrigerator mothers
48Aetiology
- 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
49Aetiology
- 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
50Aetiology
- The current working hypothesis
- A limbic system abnormality, especially the
amygdala and its functional partners the
temporal and frontal cortices
51Web 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
52Aetiology
- 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
53Aetiology 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
54The 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
55Vaccines 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
56Web 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
57Autism and Autistic Spectrum Disorders
- Part II Practice
- Assessment, management and treatment
58Assessment 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
59Assessment 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
60Consensus 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
61Screening 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?
62Detection
- 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
63Screening 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
64Screening Questions
- Developmental Milestones
- Motor crawling and walking
- Language and communication skills
- (full details of normal language development
appended to the end of this presentation)
65Language 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."
66Screening 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?
67Screening 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
68Physical 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?
69Physical Examination
- Gaze
- Eye tracking
- Following
- Hearing responds to and localizes sounds, volume
70Investigations
- If suspicious of a developmental problem with the
above screening - Audiology
- Ophthalmology
- Paediatric referral
71Parents 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
72What 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
73The 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
74High 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
75Social relationships
- Classical autism Aloof and distant
- High functioning autism/ Asperger
- Social oddities
- Play alongside others
- Hanging back in social situations
76Specialist 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)
77Specialist 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
78Specialist assessment level three
- Consultations
- Developmental pediatrics
- Occupational therapy (include sensory
assessment) - Speech language assessment
- Physiotherapy
- Psychology intellectual assessment
- Medical genetics
- Neurology
- Psychiatry
79Management 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
80Early 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)
81Early 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
82Early 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
83Early 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?
84Education 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
86Signs 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.
87Sensory 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
88Web 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
89Alternative 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
90Social 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
91Alternative 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.
92Local 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!
93Psychopharmacological 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
94Psychopharmacological 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
95Psychopharmacological 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
96Psychopharmacological 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!
97Psychopharmacological 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
98Psychopharmacological management others
- Anxiolytics, benzodiazepines anxiety, mood
- Buspirone anxiety, mood
- Naltrexone hydrochloride self abuse, stereotypic
movements - Beta blockers anxiety, aggression
- Amantadine antiparkinsonian ?improves
development progress
99Summary
- 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
100Further 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
101Appendices
102Normal 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.
103Normal 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."
104Normal 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.
105Normal 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.
106Web 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.
107Aetiology
- 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
108Aetiology
- 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)
109Aetiology
- 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)