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Smith-Lemli-Opitz syndrome
Psychological and behavioural characteristics
The information below has been drawn up by Dr A Kuczynski, Child Clinical Psychologist, South London & Maudsley NHS Trust, London, UK and Dr O Udwin, Consultant Clinical Child Psychologist, West London Mental Health NHS Trust, London, UK. It has also been approved by the Society for the Study of Behavioural Phenotypes.
In addition to the genetic, physiological, and physical features, Smith-Lemli-Opitz syndrome is also associated with psychological and behavioural characteristics.
As noted above, most affected individuals have a learning disability. This can be severe or profound, but intellectually more able people have also been reported. Occasionally, IQ estimates can be around the "borderline" or lower limit of the normal range.
A substantial proportion of those with the syndrome, perhaps even the majority, display repeated self-injurious behaviour, such as head-banging or biting. Many exhibit a distinctive forceful upper body arching and thrusting movement, known as opistokinesis, in which they can throw themselves backwards. Some have other repetitive movements.
Behavioural features may also include heightened sensitivity or hyperreactivity to sensory stimuli, including light, disturbance of the sleep cycle, temperature dysregulation, and difficulties in social communication. The pattern of behavioural impairments is often consistent with diagnosis of an autistic spectrum disorder.
What are the symptoms?
| What are the causes? 
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