Aging in people with specific genetic syndromes: Rett syndrome

The aging process of people with intellectual disabilities has been a topic of interest in recent years. Good knowledge of the specific healthcare problems in adults with intellectual disabilities and anticipating on these problems are important issues in providing support and healthcare for these persons. Nevertheless little is known about the aging process of people with specific syndromes, like Rett syndrome. In association with the Dutch Rett syndrome parent association, 70 postal questionnaires were sent to the contact persons of the females aged at least 16 years with a clinical diagnosis of Rett syndrome. The questionnaire consisted of general questions, questions about living conditions, skills, physical and psychiatric morbidity. The response rate was 76% (n = 53). In general adults with Rett syndrome seemed to be reasonably healthy, whereas neurological, respiratory and behavioral morbidity appeared to be of great influence. High care dependency was confirmed. In contrast with underweight, overweight showed to be an under-ascertained feature. The general disorder profile was confirmed, considering the increase with age regarding kyphosis and the better communication and autonomic dysfunction in the oldest age group compared to the younger age groups. Features of autonomic dysfunction deserve more medical attention, especially the interrelation between quality of sleep, respiration and behavior in Rett syndrome. Longitudinal studies including genotype-phenotype analyses are needed for insight in individual changes in support needs and health.