Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

Ryan Pham, Ben W. Mol, Jozef Gecz, Alastair H. MacLennan, Suzanna C. MacLennan, Mark A. Corbett, Clare L. van Eyk, Dani L. Webber, Lyle J. Palmer, Jesia G. Berry*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

14 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1024-1030
Number of pages7
JournalDevelopmental Medicine and Child Neurology
Issue number9
Early online date15 Jun 2020
Publication statusPublished - Sept 2020

Bibliographical note

Funding Information:
This work was supported by an Australian National Health and Medical Research Council Project Grant (no. APP1099163) and infrastructure funding from the Tenix and Commercial Motor Vehicles Group Foundations. RP was supported by a Summer Research Scholarship and funding support from the School of Public Health, University of Adelaide. We thank Lynne Giles, Adriana Milazzo, Amanda Page, and Clare Hume who provided critical appraisal of this topic; Rui Wang for advice on systematic review methodology; and Kelly Harper for administrative assistance. The authors declare that they have no competing interests.

Publisher Copyright:
© 2020 Mac Keith Press

Copyright 2020 Elsevier B.V., All rights reserved.


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