Browse by author
Lookup NU author(s): Dr Anna BasuORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2024 The Author(s). Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.The original description of cerebral palsy (CP) contained case histories suggesting that perinatal environmental stressors resulted in brain injury and neurodevelopmental disability. While there are clear associations between environmental impact on brain development and CP, recent studies indicate an 11% to 40% incidence of monogenic conditions in patients given a diagnosis of CP. A genetic diagnosis supports the delivery of personalized medicine. In this review, we describe how the Wnt pathway exemplifies our understanding of pathophysiology related to a gene variant (CTNNB1) found in some children diagnosed with CP. We cover studies undertaken to establish the baseline prevalence of monogenic conditions in populations attending CP clinics. We list factors indicating increased likelihood of a genomic diagnosis; and we highlight the need for a comprehensive, accurate, genotype–phenotype reference data set to aid variant interpretation in CP cohorts. We also consider the wider societal implications of genomic management of CP including significance of the diagnostic label, benefits and pitfalls of a genetic diagnosis, logistics, and cost.
Author(s): Basu AP, Low K, Ratnaike T, Rowitch D
Publication type: Review
Publication status: Published
Journal: Developmental Medicine and Child Neurology
Year: 2024
Pages: epub ahead of print
Online publication date: 29/07/2024
Acceptance date: 29/08/2024
ISSN (print): 0012-1622
ISSN (electronic): 1469-8749
Publisher: John Wiley and Sons Inc
URL: https://doi.org/10.1111/dmcn.16080
DOI: 10.1111/dmcn.16080
Data Access Statement: Data sharing not applicable - no new data generated.
