Autism

Autism – overview Child Psychiatrist

• The condition itself– definition and history– epidemiology– clinical features– co-morbidities– prognosis– management

• Role of Child & Adolescent Psychiatrist

• Local knowledge

• New Medicare item numbers

Pervasive Developmental Disorders

• Autism• Asperger’s Syndrome• Rett’s Syndrome• Childhood Disintegrative Disorder• PDD NOS

History of Pervasive Developmental Disorders

• 1798 – Literature The table talk of Martin Luther

• 1910 - Eugen Bleuler – Autismus (Schizophrenia)

• 1938 - Hans Asperger – Asperger’s Syndrome

• 1943 – Kanner – Early infantile Autism

• 1980s – acknowledgement of genetic factors

Epidemiology• ASD – Prev 6 per 1,000 }• Autism - Prev 1–2 per 1,000 } highly variable - depends• Asperger’s Prev 0.3 per 1000 } on diagnostic practices

• Note changes in diagnostic practices

• Associations with Autism– Maleness 3:1– Genetic disorders– Low IQ– Epilepsy– Metabolic defects– Minor physical anomalies– ADHD, Tourette’s, others (despite DSM!)

Clinical features

• Impairments in – social interaction– communication– restricted interests & repetitive behaviours

• Other aspects common but not essential for diagnosis

• Individual symptoms occur in a continuum in the general population

Differential Diagnoses

• Language disorders• Asperger’s Syndrome• Mental retardation• Rett’s Syndrome – only in girls, progressive

• Neurodegenerative disorders with prog dementia• Disintegrative disorder – normal for 2-6 yr, then regression

• Intense early deprivation• Fragile X syndrome

Causes

• strong genetic basis - complex • unclear - explained more by multi-gene

interactions or by rare mutations • twin studies - est. heritability explains more

than 90% of the risk• arises within first 8 weeks after conception• environmental toxins suspected (MMR vaccine

excluded)

Pathophysiology - theories• Disturbance in early brain development - early overgrowth – possible

mechanisms– excess neural connectivity– disturbed neuronal migration– unbalanced excitatory/inhibitory activity– abnormal dendritic spines and synapses– underconnectivity of certain areas

• Immune system – Nervous system interaction

• Neurotransmitter problems

• Inborn errors of metabolism

The label - issues

• Pros and Cons• Acknowledgement• Early vs Delayed• Registration• School funding

Making the Diagnosis

• Based on clinical – not cause or mechanism• Diagnostic Criteria / Rating scales

– DSM IV-TR, ICD-10, CARS• Classification

– Genetic / behaviour / IQ – Proposal - Type I mutation in gene

• contactin associated protein-like 2 (CNTNAP2) (rare)

DSM IV-TR criteria – Autism

• A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3)

• B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play

• C. The disturbance is not better accounted for by Rett's Disorder or Childhood Disintegrative Disorder.

A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3)

(1) qualitative impairment in social interaction, as manifested by at least two

of the following:

(a) marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction

(b) failure to develop peer relationships appropriate to developmental level

(c) a lack of spontaneous seeking to share enjoyment, interests, or achievements

with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest)

(d) lack of social or emotional reciprocity

........

A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3)

(2) qualitative impairments in communication as manifested by at least one of the following:

(a) delay in, or total lack of, the development of spoken language (not

accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

(b) in individuals with adequate speech, marked impairment in the ability to

initiate or sustain a conversation with others

(c) stereotyped and repetitive use of language or idiosyncratic language

(d) lack of varied, spontaneous make-believe play or social imitative play

appropriate to developmental level

A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3)

(3) restricted repetitive and stereotyped patterns of behavior, interests and activities, as manifested by at least two of the following:

(a) encompassing preoccupation with one or more stereotyped and restricted

patterns of interest that is abnormal either in intensity or focus

(b) apparently inflexible adherence to specific, nonfunctional routines or rituals

(c) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping

or twisting, or complex whole-body movements)

(d) persistent preoccupation with parts of objects

DSM IV-TR criteria – Autism(B) and (C) criteria

• B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play

• C. The disturbance is not better accounted for by Rett's Disorder or Childhood Disintegrative Disorder.

Early screening recommended

• 18-24 mth• During well baby checks or general

population• Using checklists eg: MCHAT

Prognosis

• Few high-quality studies for longer term

• Better outcomes – IQ >50, vocational skill

• 2004 British study - 68 adults diagnosed with Autism and IQ >50, before 1980

• 12% - high level of independence as adults• 10% - some friends & generally in work but required some support• 19% - had some independence but generally living at home and needed

considerable support and supervision in daily living• 46% needed specialist residential provision from facilities specializing in

ASD with a high level of support and very limited autonomy• 12% needed high-level hospital care.

Management• No known cure – but is possible to moderate phenomena.

• Early identification & intervention - specialized educational programs and support services critical role in improving outcome.

• Multi-D therapy for children & families should be according to specific needs.

• Medications - used to address certain behavioural problems, and target symptoms

• Environment – Classroom & Home

• Packages – efficacy, safety, ethics, cost

Role of Child & Adolescent Psychiatrist

• Assessment

• Management

• Psycho-education & Advocacy

• Helping patient with Autism and others

Local knowledge

• Autism SA• CDUs – WCH, FMC (CAT), Country• The team – multidisciplinary eg: Speech, OT,

Physio, Psychology, Paeds, Psychiatry, Educationalists

• Self-help groups• Unproven remedies abound

New Medicare item numbers

• Psychiatrists• Paediatricians• Speech therapists• Psychologists

Reading material

• Good reading lists at Websites– Wikipedia (Autism)– Autism Vic– Autism SA

• Volkmar, F.R. "Autism and Pervasive Developmental Disorders " Cambridge Child and Adolescent Psychiatry, 2nd ed 2007