美国医学会（编辑部）：所有诊断为脑瘫的患者，都值得做基因组测序

Editorial

March 6, 2023

All Patients With a Cerebral Palsy Diagnosis Merit Genomic Sequencing

Clare van Eyk, PhD1,2; Suzanna C. MacLennan, MB, BS2,3; Alastair H. MacLennan, AO, MB, ChB, MD1

Author Affiliations

JAMA Pediatr. Published online March 6, 2023. doi:10.1001/jamapediatrics.2023.0015

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Cerebral palsy is a clinically diagnosed neurodevelopmental disorder with a broad phenotype. Until recently, cerebral palsy was often incorrectly assumed to be generally associated with birth asphyxia, birth trauma, or extreme prematurity. Most individuals with cerebral palsy have appropriately received neuroimaging. However, imaging alone will often not provide an accurate etiological diagnosis and may miss the presence of dual etiologies.1 The meta-analysis by Gonzalez-Mantilla et al2 reports on 13 studies totaling 2612 individuals with cerebral palsy and conservatively shows that the diagnostic yield of exome or genome sequencing was 31.1%. This is likely to be an underestimate, as not all studies cast a wider genetic net to look for copy number variation and many did not conduct parent-child trio analysis.