An Angelman syndrome clinic: report on 24 patients

Angelman syndrome (AS) is a rare congenital neurodevelopmental disorder with complex genetic aetiology. Diagnosis may be difficult and there is severe life-long disability. An AS clinic was commenced in Sydney, Australia, in 1993 with the aim of gathering information about the natural history of AS, management issues and parental concerns.

Patients were referred from metropolitan Sydney, rural New South Wales and interstate. A questionnaire, history, physical examination and diagnostic tests were undertaken.

In the first year, 24 patients with AS were assessed. There were 11 males and 13 females, whose ages ranged from 3 to 30 years. The mean age of diagnosis was 12.8 years. The diagnosis was made by neurologists in four cases, by clinical geneticists in three cases, by paediatricians in two cases and 15 cases were diagnosed at the AS clinic. A clear history of epilepsy was obtained in 19 (79%) and in 15 of these patients the age of onset was during the first 4 years of life. An EEG had been performed in 21 patients, and in two the EEG was reported as normal. Fifteen of the patients (62.5%) could walk independently and in this cohort there was a significant sex difference in walking: 10/11 males compared to 5/13 females (P > 0.01). Five patients (21%) were in full-time permanent care. Genetic testing with appropriate DNA probes from chromosome 15 (q11-13), complete in 20 families, showed deletion in 12 patients (60%),uniparental disomy in 1(5%) and no detectable abnormality in 7 (35%).

The diagnosis of AS should be considered in any patient with severe developmental disability particularly if there is a movement disorder and lack of speech. The control of epilepsy is a major management problem. Further research is needed to establish the frequency and type of seizures, the response to anticonvulsants and to determine if improvement can be expected with age. The mobility of patients should be assessed regularly, to determine the most appropriate options for intervention.