Evidence map›Paper›PMID 34675094›Full record

ArticleNeurology2021

Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-up.

Jildou N Dijkstra, Rianne J M Goselink, Nens van Alfen, Imelda J M de Groot, Maaike Pelsma, Nienke van der Stoep, Thomas Theelen, Baziel G M van Engelen, Nicol C Voermans, Corrie E Erasmus

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In one paragraph

Article in Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.0field-weighted citation impact, top 25% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Observational
  3. Article
  4. Article
  5. Article
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 1 institution in 1 country.

Jildou N DijkstraFrom the Departments of Neurology (J.N.D., N.v.A., B.G.M.v.E., N.C.V.) and Rehabilitation (I.J.M.d.G., M.P.), Donders Centre of Neuroscience, Department of Pediatric Neurology (J.N.D., C.E.E.), Amalia Children's Hospital, and Department of Ophthalmology (T.T.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (R.J.M.G.), Jönköping, Region Jönköping County, and Department of Biomedical and Clinical Sciences (R.J.M.G.), Linköping University, Linköping, Sweden; and Department of Clinical Genetics (N.v.d.S.), Leiden University Medical Centre, the Netherlands.
Rianne J M GoselinkFrom the Departments of Neurology (J.N.D., N.v.A., B.G.M.v.E., N.C.V.) and Rehabilitation (I.J.M.d.G., M.P.), Donders Centre of Neuroscience, Department of Pediatric Neurology (J.N.D., C.E.E.), Amalia Children's Hospital, and Department of Ophthalmology (T.T.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (R.J.M.G.), Jönköping, Region Jönköping County, and Department of Biomedical and Clinical Sciences (R.J.M.G.), Linköping University, Linköping, Sweden; and Department of Clinical Genetics (N.v.d.S.), Leiden University Medical Centre, the Netherlands.
Nens van AlfenFrom the Departments of Neurology (J.N.D., N.v.A., B.G.M.v.E., N.C.V.) and Rehabilitation (I.J.M.d.G., M.P.), Donders Centre of Neuroscience, Department of Pediatric Neurology (J.N.D., C.E.E.), Amalia Children's Hospital, and Department of Ophthalmology (T.T.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (R.J.M.G.), Jönköping, Region Jönköping County, and Department of Biomedical and Clinical Sciences (R.J.M.G.), Linköping University, Linköping, Sweden; and Department of Clinical Genetics (N.v.d.S.), Leiden University Medical Centre, the Netherlands.
Imelda J M de GrootFrom the Departments of Neurology (J.N.D., N.v.A., B.G.M.v.E., N.C.V.) and Rehabilitation (I.J.M.d.G., M.P.), Donders Centre of Neuroscience, Department of Pediatric Neurology (J.N.D., C.E.E.), Amalia Children's Hospital, and Department of Ophthalmology (T.T.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (R.J.M.G.), Jönköping, Region Jönköping County, and Department of Biomedical and Clinical Sciences (R.J.M.G.), Linköping University, Linköping, Sweden; and Department of Clinical Genetics (N.v.d.S.), Leiden University Medical Centre, the Netherlands.
Maaike PelsmaFrom the Departments of Neurology (J.N.D., N.v.A., B.G.M.v.E., N.C.V.) and Rehabilitation (I.J.M.d.G., M.P.), Donders Centre of Neuroscience, Department of Pediatric Neurology (J.N.D., C.E.E.), Amalia Children's Hospital, and Department of Ophthalmology (T.T.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (R.J.M.G.), Jönköping, Region Jönköping County, and Department of Biomedical and Clinical Sciences (R.J.M.G.), Linköping University, Linköping, Sweden; and Department of Clinical Genetics (N.v.d.S.), Leiden University Medical Centre, the Netherlands.
Nienke van der StoepFrom the Departments of Neurology (J.N.D., N.v.A., B.G.M.v.E., N.C.V.) and Rehabilitation (I.J.M.d.G., M.P.), Donders Centre of Neuroscience, Department of Pediatric Neurology (J.N.D., C.E.E.), Amalia Children's Hospital, and Department of Ophthalmology (T.T.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (R.J.M.G.), Jönköping, Region Jönköping County, and Department of Biomedical and Clinical Sciences (R.J.M.G.), Linköping University, Linköping, Sweden; and Department of Clinical Genetics (N.v.d.S.), Leiden University Medical Centre, the Netherlands.
Thomas TheelenFrom the Departments of Neurology (J.N.D., N.v.A., B.G.M.v.E., N.C.V.) and Rehabilitation (I.J.M.d.G., M.P.), Donders Centre of Neuroscience, Department of Pediatric Neurology (J.N.D., C.E.E.), Amalia Children's Hospital, and Department of Ophthalmology (T.T.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (R.J.M.G.), Jönköping, Region Jönköping County, and Department of Biomedical and Clinical Sciences (R.J.M.G.), Linköping University, Linköping, Sweden; and Department of Clinical Genetics (N.v.d.S.), Leiden University Medical Centre, the Netherlands.
Baziel G M van EngelenFrom the Departments of Neurology (J.N.D., N.v.A., B.G.M.v.E., N.C.V.) and Rehabilitation (I.J.M.d.G., M.P.), Donders Centre of Neuroscience, Department of Pediatric Neurology (J.N.D., C.E.E.), Amalia Children's Hospital, and Department of Ophthalmology (T.T.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (R.J.M.G.), Jönköping, Region Jönköping County, and Department of Biomedical and Clinical Sciences (R.J.M.G.), Linköping University, Linköping, Sweden; and Department of Clinical Genetics (N.v.d.S.), Leiden University Medical Centre, the Netherlands.
Nicol C VoermansFrom the Departments of Neurology (J.N.D., N.v.A., B.G.M.v.E., N.C.V.) and Rehabilitation (I.J.M.d.G., M.P.), Donders Centre of Neuroscience, Department of Pediatric Neurology (J.N.D., C.E.E.), Amalia Children's Hospital, and Department of Ophthalmology (T.T.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (R.J.M.G.), Jönköping, Region Jönköping County, and Department of Biomedical and Clinical Sciences (R.J.M.G.), Linköping University, Linköping, Sweden; and Department of Clinical Genetics (N.v.d.S.), Leiden University Medical Centre, the Netherlands.
Corrie E ErasmusFrom the Departments of Neurology (J.N.D., N.v.A., B.G.M.v.E., N.C.V.) and Rehabilitation (I.J.M.d.G., M.P.), Donders Centre of Neuroscience, Department of Pediatric Neurology (J.N.D., C.E.E.), Amalia Children's Hospital, and Department of Ophthalmology (T.T.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Neurology (R.J.M.G.), Jönköping, Region Jönköping County, and Department of Biomedical and Clinical Sciences (R.J.M.G.), Linköping University, Linköping, Sweden; and Department of Clinical Genetics (N.v.d.S.), Leiden University Medical Centre, the Netherlands corrie.erasmus@radboudumc.nl.
Leiden University · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesData on the natural history of facioscapulohumeral dystrophy (FSHD) in childhood are limited and critical for improved patient care and clinical trial readiness. Our objective was to describe the disease course of FSHD in children.

methodsWe performed a nationwide, single-center, prospective cohort study of FSHD in childhood assessing muscle functioning, imaging, and quality of life over 2 years of follow-up.

resultsWe included 20 children with genetically confirmed FSHD who were 2 to 17 years of age. Overall, symptoms were slowly progressive, and the mean FSHD clinical score increased from 2.1 to 2.8 ( DISCUSSION: FSHD in childhood has a slowly progressive but variable course over 2 years of follow-up. The most promising outcome measures to detect progression were the FSHD clinical score and muscle ultrasonography. Despite this disease progression, an improvement on functional capacity may still occur as the child grows up. Pain, fatigue, and a decreased quality of life were common symptoms and need to be addressed in the management of childhood FSHD. Our data can be used to counsel patients and as baseline measures for treatment trials in childhood FSHD.

Indexed as

Muscular Dystrophy, FacioscapulohumeralSuperficial Back MusclesChildFollow-Up StudiesHumansProspective StudiesQuality of Life

Identifiers

PMID34675094
PMCPMC8610619
OpenAlexW3206761750

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.