Ryan Pham1, Ben W Mol2,3, Jozef Gecz4,5, Alastair H MacLennan2,4, Suzanna C MacLennan6,7, Mark A Corbett4, Clare L van Eyk4, Dani L Webber4, Lyle J Palmer1, Jesia G Berry2,4. 1. School of Public Health, University of Adelaide, Adelaide, South Australia, Australia. 2. Discipline of Obstetrics & Gynaecology, University of Adelaide, Adelaide, South Australia, Australia. 3. Discipline of Obstetrics & Gynaecology, Monash University, Clayton, Victoria, Australia. 4. Robinson Research Institute & Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. 5. South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia. 6. Neurology Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia. 7. Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia.
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.
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.
Authors: Sara A Lewis; Sheetal Shetty; Bryce A Wilson; Aris J Huang; Sheng Chih Jin; Hayley Smithers-Sheedy; Michael C Fahey; Michael C Kruer Journal: Front Neurol Date: 2021-01-21 Impact factor: 4.003
Authors: Diane Beysen; Chania De Cordt; Charlotte Dielman; Benson Ogunjimi; Julie Dandelooy; Edwin Reyniers; Katrien Janssens; Marije M E Meuwissen Journal: Front Neurol Date: 2021-04-22 Impact factor: 4.003
Authors: Wojciech Kiebzak; Arkadiusz Żurawski; Stanisław Głuszek; Michał Kosztołowicz; Wioletta Adamus Białek Journal: Children (Basel) Date: 2021-12-02