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Published on: August 23, 2019
Common Data Elements for Muscle Biopsy Reporting
Jahannaz Dastgir1, Anne Rutkowski, Rachel Alvarez
1From the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, Bethesda, Maryland (Drs Dastgir and Bonnemann); the Department of Pediatric Neurology, Division of Pediatric Neuromuscular Medicine, Columbia University Medical Center, New York, New York (Dr Dastgir); Cure CMD, Olathe, Kansas (Dr Rutkowski and Mss Alvarez and Cossette); the Department of Pediatrics, Quantitative Health Sciences Section (Drs Yan and Hoffmann), and the Department of Pathology and Laboratory Medicine, Division of Pediatric Pathology (Dr Lawlor and Ms Cossette); Medical College of Wisconsin, Milwaukee; the Dubowitz Neuromuscular Centre (Dr Sewry), the Institute of Child Health (Dr Sewry), and Great Ormond Street Hospital (Dr Sewry), University College of London, London, United Kingdom; the Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom (Dr Sewry); the Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan (Dr Hayashi); and the Department of Neuropathology, University Medical Center, Johannes Gutenberg University, Mainz, Germany (Dr Goebel).
A new standardized muscle biopsy reporting format is proposed to improve consistency in diagnosing muscle diseases. This tool incorporates common data elements (CDEs) to enhance clinical care and research for neuromuscular disorders.
Area of Science:
- Neuropathology
- Biomedical Informatics
Background:
- Current muscle biopsy reporting lacks standardization among neuropathologists.
- The National Institute of Neurological Disorders and Stroke's common data element (CDE) project aims to standardize neuromuscular data for research.
Purpose of the Study:
- To develop a uniform, prospective muscle biopsy reporting tool.
- To integrate CDEs for improved reporting and educational resources in neuropathology.
Main Methods:
- Evaluated reporting variation using 51 muscle biopsy reports from the Congenital Muscle Disease International Registry.
- Two reviewers extracted data and entered it into a revised CDE format to assess completeness and interpretability.
Main Results:
- Identified inconsistent reporting of clinical features by referring physicians.
- Observed significant variability in pathologists' reporting of histologic findings.
Conclusions:
- Propose a standardized muscle biopsy reporting format including CDEs and narrative interpretation.
- This format aids in cataloging findings across muscle diseases and supports clinical care and research, especially with expanding genetic testing.
