Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders

doi:10.1111/dmcn.14722

中山醫學大學機構典藏 CSMUIR > 中山醫學大學研究成果 > 期刊論文 > Item 310902500/24576

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题名:	Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders
作者:	Lee, HF;Chi, CS;Tsai, CR
日期:	2021
上传时间:	2022-08-09T08:04:37Z (UTC)
出版者:	WILEY
ISSN:	0012-1622
摘要:	Aim To investigate the diagnostic yield and treatment impact of whole-genome sequencing (WGS) in patients with paediatric neurological disorders. Method From January 2016 to December 2019, paediatric patients who had suspected genetic neurological disorders were assessed using WGS. The phenotypes of eligible patients were divided into four groups: patients with neurodevelopmental disorders; patients with epilepsy; patients with neuromuscular disorders; and patients with movement disorders. Results A total of 214 consecutive patients (128 males, 86 females) underwent WGS. The mean (SD) age of disease onset was 13.8 (27.6) months (range 1d-15y 5mo). The mean (SD) age at which WGS was performed was 71.7 (58.9) months (range 8d-18y). A molecular diagnosis was reported in 43.9% of patients. The highest diagnostic rate was achieved in 62.5% of patients with neuromuscular disorders, 47.5% of patients with epilepsy, 41.1% of patients with neurodevelopment disorders, and 15.4% of patients with movement disorders. All 94 patients with a WGS diagnosis were given access to genetic counselling and 23.4% of patients had immediate changes in treatment strategies after undergoing WGS. Interpretation WGS allows paediatric neurologists to integrate genomic data into their diagnosis and adjust management strategies for a range of clinical and genetically heterogeneous disease entities to improve the clinical outcomes of patients. In our cohort, the diagnosis of a significant proportion of patients was reached through WGS (43.9%). Clinicians could use these results to directly guide the management of their patients and improve their clinical outcomes (23.4%).
URI:	http://dx.doi.org/10.1111/dmcn.14722 https://www.webofscience.com/wos/woscc/full-record/WOS:000592370100001 https://ir.csmu.edu.tw:8080/handle/310902500/24576
關聯:	DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY ,2021 ,v63 ,issue 8 ,p934-938
显示于类别:	[中山醫學大學研究成果] 期刊論文

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