The following is a summary of “Clinical characteristics suggestive of a genetic cause in cerebral palsy: A systematic review,” published in the February 2024 issue of Pediatrics by Janzing et al.
This study aims to discern clinical characteristics associated with genetic cerebral palsy (CP) to assist clinicians in the judicious selection of candidates for genetic testing. Employing a systematic approach, the PubMed database was scrutinized to identify genes linked to CP. Subsequently, an exhaustive comparison was made between the clinical characteristics accompanying these genetic forms of CP and the available data from sizable CP populations. About 1930 articles were initially retrieved, and through rigorous screening, 134 were included in the analysis. The findings included the identification of 55 CP genes, described in two or more cases (n=272), and 79 candidate genes, reported in only one case.
The most frequently associated CP genes included PLP1 (21 cases), ARG1 (17 cases), and CTNNB1 (13 cases). Notably, dyskinesia and the absence of spasticity emerged as robust potential indicators of genetic CP, while the presence of intellectual disability, no preterm birth, and the absence of unilateral symptom distribution were categorized as moderate genetic indicators. The interpretation of the results underscores the increasing identification of genetic causes of CP, although they remain confined to a minority of CP individuals. The clinical characteristics associated with genetic CP provide valuable guidance for clinicians in determining which individuals with CP should undergo genetic testing.
While acknowledging the necessity for further validation in large CP cohorts, the identified potential genetic indicators represent a pivotal initial step toward developing a diagnostic algorithm for genetic CP. This comprehensive exploration contributes to refining the understanding of genetic factors influencing CP and informs clinical decision-making in the realm of genetic testing for individuals with CP.
Source: sciencedirect.com/science/article/abs/pii/S0887899424000389
