Common data elements to standardize genomics studies in cerebral palsy.

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dc.contributor.authorWilson, Y.A.
dc.contributor.authorSmithers-Sheedy, H.
dc.contributor.authorOstojic, K.
dc.contributor.authorWaight, E.
dc.contributor.authorKruer, M.C.
dc.contributor.authorFahey, M.C.
dc.contributor.authorICPGC Phenotype Working Group*,
dc.contributor.authorBaynam, G.
dc.contributor.authorGécz, J.
dc.contributor.authorBadawi, N.
dc.contributor.authorMcIntyre, S.
dc.date.issued2022
dc.description.abstractAim: 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.
dc.description.statementofresponsibilityYana A. Wilson, Hayley Smithers-Sheedy, Katarina Ostojic, Emma Waight, Michael C. Kruer, Michael C. Fahey, ICPGC Phenotype Working Group, Gareth Baynam, Jozef Gécz, Nadia Badawi, Sarah McIntyre
dc.identifier.citationDevelopmental Medicine and Child Neurology, 2022; 64(12):1470-1476
dc.identifier.doi10.1111/dmcn.15245
dc.identifier.issn0012-1622
dc.identifier.issn1469-8749
dc.identifier.orcidGécz, J. [0000-0002-7884-6861]
dc.identifier.urihttps://hdl.handle.net/2440/145818
dc.language.isoen
dc.publisherWiley
dc.rights© 2022 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
dc.source.urihttps://doi.org/10.1111/dmcn.15245
dc.subjectClinical assessment scales; Congenital disorders; Congenital malformations; Diagnostic techniques; Dystonia; Gross Motor Function Classification System; Hyperkinetic movement disorders; Movement disorders; Nervous system diseases; Prenatal, preterm, and neonatal conditions;
dc.subject.meshHumans
dc.subject.meshCerebral Palsy
dc.subject.meshGenomics
dc.subject.meshPregnancy
dc.subject.meshBiomedical Research
dc.subject.meshUnited States
dc.subject.meshFemale
dc.subject.meshCommon Data Elements
dc.subject.meshNational Institute of Neurological Disorders and Stroke (U.S.)
dc.titleCommon data elements to standardize genomics studies in cerebral palsy.
dc.typeJournal article
pubs.publication-statusPublished

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