Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective.
Journal
Developmental medicine and child neurology
ISSN: 1469-8749
Titre abrégé: Dev Med Child Neurol
Pays: England
ID NLM: 0006761
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
accepted:
03
02
2021
pubmed:
11
3
2021
medline:
12
10
2021
entrez:
10
3
2021
Statut:
ppublish
Résumé
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. 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. 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. 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.
Identifiants
pubmed: 33689173
doi: 10.1111/dmcn.14852
pmc: PMC8350791
mid: NIHMS1718935
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
963-968Subventions
Organisme : NINDS NIH HHS
ID : U54 NS116025
Pays : United States
Organisme : NCATS NIH HHS
ID : U54 TR001456
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS065701
Pays : United States
Informations de copyright
© 2021 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.
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