Skin injuries and joint contractures of the upper extremities in Rett syndrome.

OBJECTIVES

The purpose of this study was to investigate the incidence and type of skin injuries and joint contractures of the upper extremities in individuals with Rett syndrome.

METHODS

In 2016, a questionnaire regarding skin injuries and joint contractures was sent to 1016 directors of schools for special needs education and 204 directors of departments of rehabilitation [consisting of 130 facilities for persons with severe motor and intellectual disabilities (SMID), 73 wards for patients with SMID, and the National Hospital Organisation and National Centre Hospital, National Centre of Neurology and Psychiatry] in Japan. Descriptive statistics were used to indicate frequency in each question.

RESULTS

Information was acquired from 216 cases (3-53 years old) with Rett syndrome. Skin injuries and joint contractures of the upper extremities were observed in 41% and 49% of individuals with Rett syndrome, respectively. Most of the skin injuries were observed on the hands (19%) and fingers (29%). The incidence of skin injuries was not affected by age or disease severity. Many joint contractures were observed in the shoulder (33%) and elbow (29%) joints. Joint contractures tended to occur in individuals aged over 10 years or with severe locomotor impairment.

CONCLUSION

Almost half of the Rett syndrome subjects assessed in the present study had skin injuries and joint contractures. Especially, the incidence of joint contractures was affected by age and disease severity. Thus, it is important that medical staff attempt to prevent the occurrence of skin injuries and joint contractures in this patient population.