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Deep brain stimulation in Lesch–Nyhan disease: outcomes from the patient’s perspective

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 (mea...

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Autores principales: Visser, Jasper E, Cotton, Adam C, Schretlen, David J, Bloch, Jocelyne, Tedroff, Kristina, Schechtmann, Gastón, Radu Djurfeldt, Diana, Gonzalez, Victoria, Cif, Laura, Jinnah, Hyder A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8350791/
https://www.ncbi.nlm.nih.gov/pubmed/33689173
http://dx.doi.org/10.1111/dmcn.14852
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author Visser, Jasper E
Cotton, Adam C
Schretlen, David J
Bloch, Jocelyne
Tedroff, Kristina
Schechtmann, Gastón
Radu Djurfeldt, Diana
Gonzalez, Victoria
Cif, Laura
Jinnah, Hyder A
author_facet Visser, Jasper E
Cotton, Adam C
Schretlen, David J
Bloch, Jocelyne
Tedroff, Kristina
Schechtmann, Gastón
Radu Djurfeldt, Diana
Gonzalez, Victoria
Cif, Laura
Jinnah, Hyder A
author_sort Visser, Jasper E
collection PubMed
description 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.
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spelling pubmed-83507912021-08-09 Deep brain stimulation in Lesch–Nyhan disease: outcomes from the patient’s perspective Visser, Jasper E Cotton, Adam C Schretlen, David J Bloch, Jocelyne Tedroff, Kristina Schechtmann, Gastón Radu Djurfeldt, Diana Gonzalez, Victoria Cif, Laura Jinnah, Hyder A Dev Med Child Neurol Original Articles 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. John Wiley and Sons Inc. 2021-03-10 2021-08 /pmc/articles/PMC8350791/ /pubmed/33689173 http://dx.doi.org/10.1111/dmcn.14852 Text en © 2021 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Visser, Jasper E
Cotton, Adam C
Schretlen, David J
Bloch, Jocelyne
Tedroff, Kristina
Schechtmann, Gastón
Radu Djurfeldt, Diana
Gonzalez, Victoria
Cif, Laura
Jinnah, Hyder A
Deep brain stimulation in Lesch–Nyhan disease: outcomes from the patient’s perspective
title Deep brain stimulation in Lesch–Nyhan disease: outcomes from the patient’s perspective
title_full Deep brain stimulation in Lesch–Nyhan disease: outcomes from the patient’s perspective
title_fullStr Deep brain stimulation in Lesch–Nyhan disease: outcomes from the patient’s perspective
title_full_unstemmed Deep brain stimulation in Lesch–Nyhan disease: outcomes from the patient’s perspective
title_short Deep brain stimulation in Lesch–Nyhan disease: outcomes from the patient’s perspective
title_sort deep brain stimulation in lesch–nyhan disease: outcomes from the patient’s perspective
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8350791/
https://www.ncbi.nlm.nih.gov/pubmed/33689173
http://dx.doi.org/10.1111/dmcn.14852
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