Medical Issues in Adults with Rett Syndrome – A National Survey

ABSTRACT

Objectives: To examine main health issues in a population of females with Rett syndrome, with a focus on individuals aged 36 or older. Methods: A national survey including 85 females, divided into a younger (1–20 years), a middle (21–35 years) and an older group (36–66 years). Data include clinical examination, medical records and parental interviews. Prevalences of six main medical issues (scoliosis, ambulation, growth, respiration, gastrointestinal dysmobility and epilepsy) and severity scores in the three groups were compared. Results: Mean severity scores were 11.8, 15.1 and 13.7 (from younger to older), and the difference between the younger and the middle group was significant. No other major significant prevalence differences were observed. Conclusions: Most main medical issues in Rett syndrome continued to be a major concern in adulthood, but health did not seem to decline with increasing age. The results emphasize the need for clinical follow-up throughout adulthood.

KEYWORDS:

• Rett syndrome
• ageing
• adulthood
• morbidity
• clinical management

Acknowledgments

The authors would like to thank all the families who participated in this study, and the Norwegian Rett Syndrome Association for support and advice. We would also like to thank Frambu Resource Centre for Rare Disorders and habilitation centres in Norway for their support. MWH is supported by grants from Vestre Viken Hospital Trust and HB from Innlandet Hospital Trust.

Declaration of interest

The authors report no conflicts of interest.

Additional information

Funding

This work was supported by Vestre Viken Hospital Trust and Innlandet Hospital Trust