Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review

Yana A Wilson^{1

2}, Natasha Garrity¹, Hayley Smithers-Sheedy¹, Shona Goldsmith¹, Tasneem Karim¹, Georgina Henry¹, Simon Paget^{3

4}, Maria Kyriagis⁵, Nadia Badawi^{1

6}, Gareth Baynam^{7

8

9

10}, Jozef Gecz^{11

12

13}, Sarah McIntyre^{1

10}

Affiliations

¹ Cerebral Palsy Alliance Research Institute, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
² Children's Hospital Westmead Clinical School, Discipline of Child & Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.
³ Child Population and Translational Health Research, Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, Charles Perkins Centre, University of Sydney, Sydney, New South Wales, Australia.
⁴ The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
⁵ Rehab2Kids, Sydney Children's Hospital, Sydney, New South Wales, Australia.
⁶ Grace Centre for Newborn Intensive Care, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
⁷ Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia, Australia.
⁸ Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.
⁹ Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.
¹⁰ Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.
¹¹ Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
¹² Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
¹³ South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.

PMID: 39246294
DOI: 10.1177/08830738241277231

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review

Yana A Wilson et al. J Child Neurol. 2024 Nov.

. 2024 Nov;39(13-14):500-509.

doi: 10.1177/08830738241277231. Epub 2024 Sep 9.

Authors

Affiliations

¹ Cerebral Palsy Alliance Research Institute, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
² Children's Hospital Westmead Clinical School, Discipline of Child & Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.
³ Child Population and Translational Health Research, Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, Charles Perkins Centre, University of Sydney, Sydney, New South Wales, Australia.
⁴ The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
⁵ Rehab2Kids, Sydney Children's Hospital, Sydney, New South Wales, Australia.
⁶ Grace Centre for Newborn Intensive Care, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
⁷ Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia, Australia.
⁸ Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.
⁹ Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.
¹⁰ Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.
¹¹ Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
¹² Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
¹³ South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.

PMID: 39246294
DOI: 10.1177/08830738241277231

Abstract

A growing number of genes have been identified in individuals with cerebral palsy (CP); however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype. An expert panel developed 6 criteria to review the reported cerebral palsy phenotype/description for each included study. Clinically relevant genes were extracted from each study and stratified into 2 tiers based on the quality. Eighteen studies were included. There was high confidence in the reported cerebral palsy description/phenotype from 8 studies. Of the initial 373 clinically relevant genes, 85 were tier II genes. Individual cerebral palsy motor disorder and phenotype data were absent for 349 of these individuals, limiting further analysis. The tier I gene list was composed of 6 genes: ATL1, COL4A1, GNAO1, KIF1A, SPAST, and TUBA1A. Bilateral spasticity was the most common motor disorder reported in individuals with variants in all 6 genes, and most individuals had accompanying conditions. Prioritizing the accurate reporting of motor and nonmotor phenotypes is crucial for future cerebral palsy genetic studies to further understand the underlying neurobiology.

Keywords: cerebral palsy; gene; genetics; phenotype.

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Conflict of interest statement

Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review

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Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review

Authors

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Abstract

Conflict of interest statement

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Full Text Sources

Medical

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