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Cerebral palsy and genomics: an international consortium

Accumulating evidence of the role of genetic variation in CP aetiology suggests that individuals with CP should undergo genomic testing as part of their diagnostic workup

Citation:
MacLennan AH, Kruer MC, Baynam G, Moreno-De-Luca A, Wilson YA, Zhu C, et al. Cerebral palsy and genomics: an international consortium. Developmental Medicine and Child Neurology. 2018;60(2):209-10

Abstract:
Historically it was believed that the primary cause of cerebral palsy (CP) was intrapartum complications, predominantly birth asphyxia. However, epidemiological studies have suggested that most cases are associated with other clinical risk factors including preterm birth, presence of congenital anomalies, fetal growth restriction, placental pathology, and an altered fetal inflammatory response. It has been hypothesized that much of the unknown pathophysiology of CP may be genetically caused.

Medical practice is increasingly embracing genomics, enabling stratification of disorders into more accurate diagnoses to refine prognosis, better guide management, and personalize therapeutic interventions. Accumulating evidence of the role of genetic variation in CP aetiology suggests that individuals with CP should undergo genomic testing as part of their diagnostic workup.