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 article

1 Citation (Scopus)

Abstract

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
Volume62
Issue number9
Early online date15 Jun 2020
DOIs
Publication statusE-pub ahead of print - 15 Jun 2020

Keywords

  • COPY-NUMBER VARIATIONS
  • POLYMORPHISMS
  • ASSOCIATION
  • RISK
  • CLASSIFICATION
  • EPIDEMIOLOGY
  • EXPRESSION
  • CHILDREN

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health

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  • Cite this

    Pham, R., Mol, B. W., Gecz, J., MacLennan, A. H., MacLennan, S. C., Corbett, M. A., van Eyk, C. L., Webber, D. L., Palmer, L. J., & Berry, J. G. (2020). Definition and diagnosis of cerebral palsy in genetic studies: a systematic review. Developmental Medicine and Child Neurology, 62(9), 1024-1030. https://doi.org/10.1111/dmcn.14585