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

Huang, Chia-HsuanChia-HsuanHuangHung, Pi-LienPi-LienHungPI-CHUAN FANLin, Kuang-LinKuang-LinLinHsu, Ting-RongTing-RongHsuChou, I-JunI-JunChouHo, Che-ShengChe-ShengHoChou, I-ChingI-ChingChouLin, Wei-ShengWei-ShengLinLee, Inn-ChiInn-ChiLeeFan, Hueng-ChuenHueng-ChuenFanChen, Shyi-JouShyi-JouChenLiang, Jao-ShwannJao-ShwannLiangTu, Yi-FangYi-FangTuChang, Tung-MingTung-MingChangHu, Su-ChingSu-ChingHuLEE-CHIN WONGHung, Kun-LongKun-LongHungWANG-TSO LEE2022-01-212022-01-2120212045-2322https://www.scopus.com/inward/record.uri?eid=2-s2.0-85116905068&doi=10.1038%2fs41598-021-98517-4&partnerID=40&md5=c0a89cfb58fafefd23b6be55165a7be9https://scholars.lib.ntu.edu.tw/handle/123456789/592748Dravet 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. ? 2021, The Author(s).[SDGs]SDG3SCN1A protein, human; sodium channel Nav1.1; adolescent; adult; age; caregiver; child; comorbidity; cross-sectional study; epidemiology; female; genetics; human; infant; male; mutation; myoclonus epilepsy; pathology; preschool child; psychology; quality of life; questionnaire; Taiwan; vaccination; young adult; Adolescent; Adult; Age Factors; Caregivers; Child; Child, Preschool; Comorbidity; Cross-Sectional Studies; Epilepsies, Myoclonic; Female; Humans; Infant; Male; Mutation; NAV1.1 Voltage-Gated Sodium Channel; Quality of Life; Surveys and Questionnaires; Taiwan; Vaccination; Young AdultClinical spectrum and the comorbidities of Dravet syndrome in Taiwan and the possible molecular mechanismsjournal article10.1038/s41598-021-98517-4346423512-s2.0-85116905068