Clinical spectrum and the comorbidities of Dravet syndrome in Taiwan and the possible molecular mechanisms

doi:10.1038/s41598-021-98517-4

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 310902500/23379

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题名:	Clinical spectrum and the comorbidities of Dravet syndrome in Taiwan and the possible molecular mechanisms
作者:	Huang, CH;Hung, PL;Fan, PC;Lin, KL;Hsu, TR;Chou, IJ;Ho, CS;Chou, IC;Lin, WS;Lee, IC;Fan, HC;Chen, SJ;Liang, JS;Tu, YF;Chang, TM;Hu, SC;Wong, LC;Hung, KL;Lee, WT
日期:	2021
上传时间:	2022-08-05T09:36:19Z (UTC)
出版者:	NATURE PORTFOLIO
ISSN:	2045-2322
摘要:	Dravet syndrome (DS) is an uncommon epilepsy syndrome that may negatively affect the patients and their caregivers. However, reliable and valid measures of its impact on caregivers and the characteristics of patients with DS in Taiwan are lacking. This study aimed to describe the characteristics of patients with DS and concerns of their caregivers and establish a baseline frequency of disease characteristics using a cross-sectional survey in Taiwan. We assessed the caregivers of patients with DS using an online anonymous questionnaire. The seizure frequency decreased with age, although lacking statistical significance. Vaccines show no influence on the condition of patients with DS. Our findings revealed the highest impact on the domains affecting the caregivers' daily life, including additional household tasks, symptom observation, further medical plan, and financial issues. Caregivers also expressed concerns regarding the lack of independence/constant care, seizure control, speech/communication, and impacts on siblings because of long-term care of the patients in parents' absence. Our findings highlight the significant effects of caring for a child with DS on the lives of their caregivers in Taiwan; these findings will help raise awareness regarding the needs of these families. Furthermore, we discussed the possible pathophysiological mechanisms of associated comorbidities.
URI:	http://dx.doi.org/10.1038/s41598-021-98517-4 https://www.webofscience.com/wos/woscc/full-record/WOS:000706830500059 https://ir.csmu.edu.tw:8080/handle/310902500/23379
關聯:	SCIENTIFIC REPORTS ,2021,v11,issue 1
显示于类别:	[中山醫學大學研究成果] 期刊論文

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