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

• Type of Material: Article
• Authors: Jasper E Visser, Radboud University Nijmegen; Adam C Cotton, Emory University; David J Schretlen, Johns Hopkins University; Jocelyne Bloch, Lausanne University Hospital; Kristina Tedroff, Karolinska Institutet; Gastón Schechtmann, Karolinska Institutet; Diana Radu Djurfeldt, Karolinska Institutet; Victoria Gonzalez, CHU Montpellier; Laura Cif, CHU Montpellier; Hyder Jinnah, Emory University
• Language: English
• Date: 2021-03-10
• Publisher: WILEY
• Publication Version: Final Published Version
• Copyright Statement: © 2021 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1111/dmcn.14852
• Title of Journal or Parent Work: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
• Volume: 63
• Issue: 8
• Start Page: 963
• End Page: 968
• Grant/Funding Information: Moreover, this study was supported in part by a grant to the Dystonia Coalition, which receives most of its support through National Institutes of Health grants NS065701 and NS116025 from the National Institutes of Neurological Disorders and Stroke, and TR001456 from the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences (HAJ).; This study was supported by a grant 916.12.167 (VENI) from the Nederlandse Organisatie voor Wetenschappelijk Onderzoek, fellowship F2014(1)‐16 from the Hersenstichting, and a grant from LND Famiglie Italiane Onlus (JEV).
• Keywords: Neurosciences & Neurology; Science & Technology; Pediatrics; Life Sciences & Biomedicine; Clinical Neurology
• Research Categories: Health Sciences, Mental Health

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, 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.