Dr Diane Mullins, RCSI Tutor in Psychiatry, St Itas Hospital, Portrane

Childhood autism / autism / clinical description and treatment of autism

Diagnostic criteria (DSM-IV)
A pervasive developmental disorder (PDD) defined by the presence of abnormal
and / or impaired development that is manifest before the age of 3 years
Characterised by abnormal functioning in three areas:
o Social interaction
Impaired use of non-verbal behaviours (i.e. poor eye contact, facial
expression, body postures, and gestures to regulate social interaction)
Failure to develop peer relationships
Lack of spontaneous seeking to share enjoyment, interests or
achievements with other people (e.g. by showing, bringing or pointing
out objects of interest)
Lack of social or emotional reciprocity
o Communication
Delay in, or total lack of, the development of spoken language
In people with adequate speech, marked impairment in the ability to
initiate or sustain a conversation with others
Stereotyped and repetitive use of language
Lack of varied, spontaneous make-believe play or social imitative play
o Restricted, repetitive behaviours and interests
Preoccupation with one or more stereotyped and restricted patterns of
interest that is abnormal either in intensity or focus
Inflexible adherence to specific routines or rituals
Stereotyped and repetitive motor mannerisms (e.g. hand or finger
flapping or twisting, or complex whole body movements)
Persistent preoccupation with parts of objects
Other clinical features
~ 40% have IQ < 50, only 30% > 70
Neurological features
o Seizures (1/3 of autistic people develop seizures during adolescence)
o Motor tics
o head circumference
o ambidexterity
Psychological features
o Unusually intense sensory responsiveness (e.g. to bright lights, loud noise,
rough textures)
o Absence of typical response to pain or injury
o Abnormal temperature regulation
Behavioural problems
o Irritability
o Temper tantrums
o Self-injury
o Hyperactivity
o Aggression
Epidemiology
Males > females (3-4 : 1)
Prevalence: 5-10 per 1,000 people
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Dr Diane Mullins, RCSI Tutor in Psychiatry, St Itas Hospital, Portrane

Aetiology
Cause is unknown but hypotheses exist:
o Genetic: in Downs syndrome and Fragile X syndrome; MZ>DZ twins; 3%
prevalence among siblings of autistic people
o Excess of perinatal complications, minor physical anomalies, abnormal
dermatoglyphics suggest neurodevelopmental basis
o with maternal rubella, PKU, tuberous sclerosis, Retts syndrome
o Autoimmune (anecdotal MMR: not proven)
o Neurochemistry:
CSF HVA associated with autistic stereotypies
5-HIAA associated with symptom severity
o Hypothesis of refrigerator parents now discounted (i.e. autistic behaviors
stem from the emotional frigidity of the children's mothers)
o Lack of theory of mind (i.e. difficulty seeing things from any other
perspective than their own. Individuals who experience a theory of mind
deficit have difficulty determining the intentions of others, lack understanding
of how their behavior affects others, and have a difficult time with social
reciprocity)
o MRI: brain volume in occipital, parietal and temporal lobes
Differential diagnosis
Deafness
Mental retardation with behavioural symptoms
Developmental language disorder
Childhood schizophrenia
Disintegrative psychosis (i.e. severe & sustained impairments in social
relationships, speech and language with onset after 30 months of age)
CNS disorders (tuberous sclerosis etc)
Assessment (involve parent & child)
Full evaluation of physical & mental state
Specific developmental, psychometric and educational assessments
Rating scales:
o Autistic Diagnostic Interview Revised (ADI-R)
o Autism Diagnostic Observation Schedule (ADOS)
Management
No specific treatment
Counselling and support for parents; self-help groups
Educational placement
Behaviour modification- social behaviour, language skills etc
Drug treatment: Haloperidol behavioural symptoms and stereotypes but risk of
tardive dyskinesia. Risperidone, Olanzapine, Quetiapine, Clozapine and
Ziprasidone have also been used
Course and prognosis
IQ and development of language skills related to prognosis
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Dr Diane Mullins, RCSI Tutor in Psychiatry, St Itas Hospital, Portrane

o Severely handicapped: 2/3
o Fair adjustment: 1/6
o Adequate social adjustment: 1/6
In adult life 75% of children met criteria for schizotypal personality disorder