Premium
Definition and diagnosis of cerebral palsy in genetic studies: a systematic review
Author(s) -
Pham Ryan,
Mol Ben W,
Gecz Jozef,
MacLennan Alastair H,
MacLennan Suzanna C,
Corbett Mark A,
Eyk Clare L,
Webber Dani L,
Palmer Lyle J,
Berry Jesia G
Publication year - 2020
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.14585
Subject(s) - cerebral palsy , interpretability , generalizability theory , medicine , systematic review , medline , meta analysis , psychology , physical therapy , pathology , biology , computer science , developmental psychology , biochemistry , machine learning
Aim To conduct a systematic review of phenotypic definition and case ascertainment in published genetic studies of cerebral palsy (CP) to inform guidelines for the reporting of such studies. Method Inclusion criteria comprised genetic studies of candidate genes, with CP as the outcome, published between 1990 and 2019 in the PubMed, Embase, and BIOSIS Citation Index databases. Results Fifty‐seven studies met the inclusion criteria. We appraised how CP was defined, the quality of information on case ascertainment, and compliance with international consensus guidelines. Seven studies (12%) were poorly described, 33 studies (58%) gave incomplete information, and 17 studies (30%) were well described. Missing key information precluded determining how many studies complied with the definition by Rosenbaum et al. Only 18 out of 57 studies (32%) were compliant with the Surveillance of Cerebral Palsy in Europe (SCPE) international guidelines on defining CP. Interpretation Limited compliance with international consensus guidelines on phenotypic definition and mediocre reporting of CP case ascertainment hinders the comparison of results among genetic studies of CP (including meta‐analyses), thereby limiting the quality, interpretability, and generalizability of study findings. Compliance with the SCPE guidelines is important for ongoing gene discovery efforts in CP, given the potential for misclassification of unrelated neurological conditions as CP.