Evidence map›Paper›PMID 33689173›Full record

ArticleDevelopmental medicine and child neurology2021

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

Jasper E Visser, Adam C Cotton, David J Schretlen, Jocelyne Bloch, Kristina Tedroff, Gastón Schechtmann, Diana Radu Djurfeldt, Victoria Gonzalez, Laura Cif, Hyder A Jinnah

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Developmental medicine and child neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 3 pooled it
0.7field-weighted citation impact, top 32% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 3 syntheses or guidelines pooled it, 11 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Movement Disorders in Children: Treatment Algorithm and Surgical Options.Advances and technical standards in neurosurgery · 2026
    Review
  5. Article
  6. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 8 institutions in 5 countries.

Jasper E VisserDepartment of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen.ORCID 0000-0002-9896-3416
Adam C CottonDepartments of Neurology and Human Genetics, Emory University School of Medicine, Atlanta.
David J SchretlenDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, USA.
Jocelyne BlochDepartment of Neurosurgery, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Kristina TedroffNeuropediatric Unit, Department of Women's and Children's Health, Karolinska Institutet and Karolinska University Hospital, Stockholm.ORCID 0000-0002-0456-8029
Gastón SchechtmannDepartment of Neurosurgery, Karolinska Institutet and University Hospital, Stockholm.
Diana Radu DjurfeldtDepartment of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Victoria GonzalezDepartment of Neurology, CHU Montpellier and INSERM U661, Montpellier.
Laura CifDepartment of Neurosurgery, CHU Montpellier, Montpellier, France.ORCID 0000-0003-4920-4234
Hyder A JinnahDepartments of Neurology and Human Genetics, Emory University School of Medicine, Atlanta.
Emory University · USKarolinska University Hospital · SECentre Hospitalier Universitaire de Montpellier · FRInserm · FRJohns Hopkins University · USKarolinska Institutet · SERadboud University Nijmegen · NLUniversity of Lausanne · CH

Funding

Dystonia Coalition- Pilot ProjectU54NS116025 · NINDS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2019 to 2023
$7.1M
Dystonia CoalitionU54NS065701 · NINDS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2009 to 2014
$7.0M
Dystonia CoalitionU54TR001456 · NCATS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2015 to 2016
$2.5M
NCATS NIH HHS U54 TR001456NINDS NIH HHS U54 NS065701NINDS NIH HHS U54 NS116025
6 · The paper itself

Abstract

aimTo 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.

methodWe 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.

resultsPatients 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.

interpretationAlthough 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.

Indexed as

Deep Brain StimulationAdolescentChildChild, PreschoolFemaleGlobus PallidusHumansLesch-Nyhan SyndromeMalePatient Outcome AssessmentTreatment OutcomeYoung Adult

Identifiers

PMID33689173
PMCPMC8350791
OpenAlexW3133743682

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.