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

Autor: Visser JE; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen.; Department of Neurology, Amphia Hospital, Breda, the Netherlands., Cotton AC; Departments of Neurology and Human Genetics, Emory University School of Medicine, Atlanta., Schretlen DJ; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, USA., Bloch J; Department of Neurosurgery, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Tedroff K; Neuropediatric Unit, Department of Women's and Children's Health, Karolinska Institutet and Karolinska University Hospital, Stockholm., Schechtmann G; Department of Neurosurgery, Karolinska Institutet and University Hospital, Stockholm., Radu Djurfeldt D; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Gonzalez V; Department of Neurology, CHU Montpellier and INSERM U661, Montpellier.; Department of Neurosurgery, CHU Montpellier, Montpellier, France., Cif L; Department of Neurosurgery, CHU Montpellier, Montpellier, France., Jinnah HA; Departments of Neurology and Human Genetics, Emory University School of Medicine, Atlanta.
Jazyk: angličtina
Zdroj: Developmental medicine and child neurology [Dev Med Child Neurol] 2021 Aug; Vol. 63 (8), pp. 963-968. Date of Electronic Publication: 2021 Mar 10.
DOI: 10.1111/dmcn.14852
Abstrakt: 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, and were overall less positive than in previous reports based on clinician assessments. In addition, there was an unexpectedly high rate of adverse events, tempering overall enthusiasm for the procedure.
Interpretation: Although DBS might be an effective treatment for LND, more research is needed to understand the reasons for response variability and the unusually high rates of adverse events before DBS can be recommended for these patients. What this paper adds Individuals with Lesch-Nyhan disease and their families report variable efficacy of deep brain stimulation. Long-term outcomes are associated with a high adverse event rate.
(© 2021 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)
Databáze: MEDLINE
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