Aging in Rett syndrome: a longitudinal study

BACKGROUND: Little is known about the aging process of people with specific syndromes, like Rett syndrome (RTT). Recognition of the clinical and behavioral characteristics of the adult RTT is needed in order to improve future management of the RTT girl and counseling of parents. METHODS: In association with the Dutch RTT parent association, a five-year longitudinal study was carried out. The study population consisted of 53 adult women with a clinical diagnosis of RTT. Postal questionnaires were sent, including demographic features, skills, physical and psychiatric morbidity. RESULTS: At the time of the second measurement seven women had died. In 2012 80% of the questionnaires (37/46) were returned. Mean age of the women was 31.4 years. Molecular confirmation was possible for 83% of the women for whom analyses were carried out. The adult RTT woman has a more or less stable condition. The general disorder profile is that of a slow on-going deterioration of gross motor functioning in contrast to a better preserved cognitive functioning, less autonomic and epileptic features and good general health. CONCLUSIONS: This is the first longitudinal cohort study about aging in RTT. Continuing longitudinal studies are needed to gain more insight into the aging process in RTT