Abstract for presentation at 11th International Congress of Human Genetics

Purpose: The study focused on the life histories of people in Western Australia diagnosed with Prader-Willi syndrome (PWS) or Angelman syndrome (AS). Both PWS and AS are disorders that result from abnormal expression of one or more imprinted genes in the chr15q11-q13 region. Loss of a paternally-imprinted gene/s leads to PWS, while similar disruption of the maternally-imprinted gene, UBE3A, causes AS.
Method: Data from the client files of the State Disability Services Commission of Western Australia were augmented by information from the Genetic Services, Hospital Morbidity, and Mental Health datasets. The information collected included details of the clinical presentation, laboratory investigations, and hospital admissions for each individual.
Results: Eighty persons were identified: 19 female and 15 male AS (ages, 6.5-39.0yr), and 23 female and 23 male PWS (ages, 0.9-48.3yr). Their ages at diagnosis ranged from 0.1-27.0yr, with the mean age falling substantially in more recent years. Most persons with AS had moderate to severe intellectual disability (ID), and those with PWS were in the mild to moderate range.
People with PWS were more likely to be admitted to hospital, and for longer periods, than the AS group and the general population. This difference was significant among those aged 5yr or less, and 25 to 34yr. Over the 30 year period for which records are available, nine persons from the entire study group had been admitted to psychiatric units (for 1-96 days), and seven individuals had attended psychiatric outpatient clinics (3-1162 sessions).
Conclusions: Infants with PWS show a range of health problems which may require frequent hospitalisation, including hypotonia, poor suckling, and hypogonadism. Older PWS cases eat obsessively and their resultant obesity can result in increased need for medical care in adulthood. People with AS have less acute medical problems.