RETT SYNDROME: A SOUTH AFRICAN EXPERIENCE

Objectives: 1. To assess the demographics and clinical variability of Rett Syndrome, in our local population. 2. To establish the percentage of those fulfilling the clinical criteria for Rett GSyndrome who carry the MeCP2 mutations.

Methods: A retrospective study was conducted at Red Cross Children's Hospital, a tertiary hospital in the Western Cape. The neurology database (n=2511) was screened for patients diagnosed with Rett Syndrome who presented between 2000 and 2004. Patient demographics, clinical data, investigations and course were documented.

Results: Eight girls fulfilled the clinical criteria. Four were of indigenous African decent and the remainder were of mixed ancestry. They presented between 2 and 4 years of age with a median age at follow-up of 8 years and 4 months (range 4 years to 15 years). By 4 years of age, all patients exhibited the Stage 3 features of Rett Syndrome. All patients had autistic features and severe intellectual disability. Two patients had atypical features. Seven patients had seizures and eight had abnormal EEG's. Molecular genetic testing in the MeCP2 gene was performed on five patients; 4 were positive for the mutations and 1 was negative for the common mutations.

Conclusion: The phenotypic profile of our patients was similar to that seen internationally. The paucity of molecular genetic data is being rectified by the recent availability of testing facilities. We believe that Rett Syndrome is under-recognised in our predominantly underprivileged population.