Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population
Molecular Genetics and Metabolism(2022)
摘要
Purpose: The presentation and underlying etiology of Cerebral Palsy (CP) in general are heterogenous. Clinical features present differently in pediatric versus adult patient populations. Many metabolic and genetic conditions present with clinical symptoms suggestive of CP. Precision medicine practices are currently a standard of care, and Next-Generation-Sequencing (NGS) tools are used for the purpose of diagnosis and management. We describe the diagnostic yield and impact on management of NGS comparing a cohort of 102 children and 37 adults with CP, referred to two tertiary care centres between 2015 and 2020 (adult cohort) and 2017–2020 (pediatric cohort) respectively.
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关键词
Cerebral Palsy (CP),Next-Generation-Sequencing (NGS),Intellectual disability (ID),Molecular diagnosis,Treatment
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