Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective.

ABSTRACT:

Aim

To provide insight into outcome and long-term safety and efficacy of deep brain stimulation (DBS), from the perspective of individuals with Lesch-Nyhan disease (LND) and their families.

Method

We used patient-centered outcome measures to assess long-term outcomes of DBS for 14 individuals (mean [SD] age 10y 10mo [5y 6mo], range 5-23y, all males) with LND, after an average duration of 5y 6mo (range 11mo-10y 5mo) after surgery. We compared these results with a comprehensive review of previously published cases.

Results

Patients and their families reported that DBS of the globus pallidus can be effective both for motor and behavioral disturbances in LND. However, outcome measures were often not significantly changed owing to substantial variability among individuals,

SUBMITTER: Visser JE 

PROVIDER: S-EPMC8350791 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature