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

Abstract

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.

Movement disorders in patients with Rett syndrome: A systematic review of evidence and associated clinical considerations

“…High‐stress conditions can also lead to visible signs of displeasure in the faces and the vocalization of patients with RTT 19 and could have implications on how movement behaviors can be affected by these signs. Evidence further suggests that environmental and sensory influences might have an important role in reducing the incidence of secondary disabilities associated with abnormal movements in RTT 33 . In this questionnaire‐based study, factors that led to a decrease in stereotypies were somnolence, pleasure, concentration, and food.…”

Comparison of the presence and absence of an intervention to reduce hand stereotypies in individuals with Rett syndrome

“…Left mouthing and clasping/posturing movements were observed significantly more often in the current or past intervention group than in the non‐intervention group. Skin injuries are most frequently observed on the hands and fingers and are the result of wetting and friction (Hirano & Taniguchi, 2018). Mouthing is expected to be a major cause of hand and finger wetting with saliva (Hirano & Taniguchi, 2018) and is associated with difficulties in maintaining oral hygiene and structure (Bianco & Rota, 2018).…”

“…Skin injuries are most frequently observed on the hands and fingers and are the result of wetting and friction (Hirano & Taniguchi, 2018). Mouthing is expected to be a major cause of hand and finger wetting with saliva (Hirano & Taniguchi, 2018) and is associated with difficulties in maintaining oral hygiene and structure (Bianco & Rota, 2018). Clasping/posturing movements can also be causes of wetness with sweat and friction of the hands and fingers.…”

“…Skin injuries and joint contractures resulting from continuous hand stereotypies have been reported (Hirano & Taniguchi, 2018).…”

Time for Activities for Girls and Women with Rett Syndrome

“…More recent research has focused on communication abilities and the use of eye gaze and gestures to communicate . A mapping of skin injuries and joint contractures of the upper extremities was recently presented from Japan (Hirano &Taniguchi, 2018) and from USA a first colour tracker was developed to monitor hand and arm motion of a woman with RTT (McAmis, Foreman, Himmelrich, Diener, & Engsberg, 2017). Since RTT is a rare disorder, research that includes other diagnoses has also been conducted, such as a review of community participation interventions (Andrews et al, 2015).…”