Evidence map›Paper›PMID 30320597›Full record

ArticleJournal of neuromuscular diseases2018

Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1.

Jennifer G Andrews, Molly M Lamb, Kristin Conway, Natalie Street, Christina Westfield, Emma Ciafaloni, Dennis Matthews, Christopher Cunniff, Shree Pandya, Deborah J Fox and 1 more

Open access · greenAbstract read
In one paragraph

Article in Journal of neuromuscular diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
0.6field-weighted citation impact, top 31% 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

13 citing papers in PubMed, 16 citations in OpenAlex.

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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

11 authors at 7 institutions in 1 country.

Jennifer G AndrewsDepartment of Pediatrics, University of Arizona, Tucson, Arizona, USA.
Molly M LambDepartment of Epidemiology, Colorado School of Public Health, University of Colorado, Aurora, Colorado, USA.
Kristin ConwayDepartment of Epidemiology, The University of Iowa, Iowa City, Iowa, USA.
Natalie StreetNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Christina WestfieldNew York State Department of Health, Albany, New York, USA.
Emma CiafaloniDepartment of Neurology, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, New York, USA.
Dennis MatthewsPhysical Medicine and Rehabilitation, School of Medicine, University of Colorado, Aurora, Colorado, USA.
Christopher CunniffDepartment of Pediatrics, Weill Cornell Medical College, New York, New York, USA.
Shree PandyaDepartment of Neurology, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, New York, USA.
Deborah J FoxNew York State Department of Health, Albany, New York, USA.
MD STARnet
New York State Department of Health · USCornell University · USUniversity of Iowa · USCenters for Disease Control and Prevention · USColorado School of Public Health · USUniversity of Arizona · USUniversity of Rochester Medical Center · US

Funding

Comp A-NY State Surveillance and Research of MD and Neuromuscular DisordersU01DD001123 · DD · CENTER OF ENVIRONMENTAL HEALTH · PI SOIM, AIDA · 2014 to 2018
$2.4M
Comp A-MD and Neuromuscular Disorder Surveillance and Research in IowaU01DD001119 · DD · UNIVERSITY OF IOWA · PI ROMITTI, PAUL A · 2014 to 2018
$2.4M
Intramural CDC HHS CC999999NCBDD CDC HHS U01 DD000189NCBDD CDC HHS U01 DD000830NCBDD CDC HHS U01 DD000831NCBDD CDC HHS U01 DD000835NCBDD CDC HHS U01 DD000836NCBDD CDC HHS U01 DD001119NCBDD CDC HHS U01 DD001123
6 · The paper itself

Abstract

Dystrophinopathies are caused by mutations in DMD resulting in progressive muscle weakness. They are historically divided into the more severe Duchenne (DMD) and milder Becker (BMD) muscular dystrophy phenotypes. Classification is important for research and clinical care. The purpose of this study was to describe a multi-variable approach to classifying cases from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) and to assess the accuracy of the diagnostic classification scheme. We used age at loss of mobility, molecular testing results, and age at symptom onset to classify cases as having DMD or BMD and to assess sensitivity and specificity. Mobility status showed low sensitivity and high specificity for predicting DMD (65.5% and 99.3%, respectively) and BMD (62.8% and 97.7%, respectively) phenotypes. Molecular testing showed 90.9% sensitivity and 66.4% specificity for DMD; 76.3% sensitivity and 90.0% specificity for BMD. Age of onset predicted DMD with sensitivity of 73.9% and specificity of 69.0%; BMD had 99.7% specificity and 36.7% sensitivity. Mobility status, molecular test results, and age at symptom onset are important but inconsistent measures for accurately classifying individuals into DMD or BMD phenotypes. These results have implications for prognosis in newly diagnosed individuals and for classifying phenotype in clinical trials.

Indexed as

AdultDatabases, FactualHumansMaleMedical RecordsMuscular Dystrophy, DuchennePhenotypeYoung AdultBeckerdiagnostic accuracyDuchennedystrophinopathyMuscular dystrophiesphenotype

Identifiers

PMID30320597
PMCPMC6367719
OpenAlexW2894581209

What OpenQuestion holds

Textmetadata
LicenceTDM
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.