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Common data elements to standardize genomics studies in cerebral palsy
Journal article   Peer reviewed

Common data elements to standardize genomics studies in cerebral palsy

Y.A. Wilson, H. Smithers‐Sheedy, K. Ostojic, E. Waight, M.C. Kruer, M.C. Fahey, G. Baynam, J. Gecz, N. Badawi and S. McIntyre
Developmental Medicine & Child Neurology, Vol.64(12), pp.1470-1476
2022
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Abstract

Aim To define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method Candidate data elements were collated following a review of the literature and existing CDEs. An online, three-round Delphi survey was used to rate each data element as either ‘core’, ‘recommended’, ‘exploratory’, or ‘not required’. Members of the International Cerebral Palsy Genomics Consortium (ICPGC) rated the core CDEs as either mandatory or not, to form the MDS. For both the CDEs and the MDS, a data element was considered to have reached consensus if more than 75% of respondents agreed. Results Forty-six individuals from around the world formed the Delphi panel: consumers (n=2), scientists/researchers (n=17), medical (n=19), and allied health professionals (n=8). The CDEs include 107 data elements across six categories: demographics, diagnostics, family history, antenatal and neonatal details, clinical traits, and CP-specific assessments. Of these, 10 are mandatory, 42 core, 41 recommended, and 14 are exploratory. Interpretation The ICPGC CDEs provide a foundation for the standardization of phenotype data captured in CP genomic studies and will benefit international collaborations and pooling of data, particularly in rare conditions.

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Collaboration types
Domestic collaboration
International collaboration
Citation topics
1 Clinical & Life Sciences
1.82 Gait & Posture
1.82.1066 Cerebral Palsy
Web Of Science research areas
Clinical Neurology
Pediatrics
ESI research areas
Neuroscience & Behavior
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