德拉韦特综合症患者的喂养困难和胃造瘘术:英国范围内的调查和两家中心的经验。

IF 2.3 Q3 CLINICAL NEUROLOGY
Neurology. Clinical practice Pub Date : 2024-06-01 Epub Date: 2024-04-23 DOI:10.1212/CPJ.0000000000200288
Lisa M Clayton, Bahar Azadi, Claire Eldred, Galia Wilson, Robert Robinson, Sanjay M Sisodiya
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引用次数: 0

摘要

背景和目的:德雷维综合征(Dravet Syndrome,DS)是最常见的单基因癫痫之一。除了核心的癫痫发作和发育表型外,食欲、吞咽和体重减轻等问题也经常见诸报端,一些患者因此需要进行胃造瘘术。我们调查了英国 3 个 DS 群体的喂养困难负担和胃造瘘需求。我们记录了护理人员的意见和胃造口术后的结果,并就 DS 的喂养问题和胃造口术提供了指导:我们开展了一项回顾性观察研究;数据来源于在国立神经病学和神经外科医院以及大奥蒙德街医院就诊的 124 名 DS 患者的医疗记录,以及 65 名 DS 护理人员对英国范围内一项调查的回复:124人中有64人(52%)至少有一种喂养困难;124人中有21人(17%)接受了胃造口术,5%的人正在考虑接受胃造口术;胃造口术最常见的原因是食欲不振(81%)和体重减轻/无法增加体重(71%)。胃造口术时的中位年龄为 17 岁(2.5-59 岁不等)。多变量分析确定了导致喂养困难和胃造口术风险的几个综合因素,包括使用几种抗癫痫药物(ASM)治疗,其中斯奇潘托对胃造口术风险有独特的影响(p = 0.048,几率比 3.20,95% CI 1.01-10.16)。在实施胃造瘘术前,88% 的护理人员对胃造瘘术感到担忧,担忧的问题多种多样。胃造口术后,88%的护理人员对孩子接受胃造口术感到高兴,超过90%的护理人员认为胃造口术确保了孩子的服药依从性,孩子的总体健康状况有所改善,生活质量有所提高:讨论:喂养困难在DS患者中很常见,17%的患者需要通过胃造口术来解决喂养困难。DS 喂养困难的风险因素尚不清楚,但 ASM 可能是其中的一个因素。护理人员对胃造瘘术前的关注度很高;但胃造瘘术后护理人员的意见是积极的。在对 DS 患者进行复查时,应主动询问他们是否有喂养困难,并讨论是否需要进行胃造瘘术。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Feeding Difficulties and Gastrostomy in Dravet Syndrome: A UK-Wide Survey and 2-Center Experience.

Background and objectives: Dravet syndrome (DS) is one of the most common monogenic epilepsies. Alongside the core seizure and developmental phenotypes, problems with appetite, swallowing, and weight loss are frequently reported, necessitating gastrostomy in some. We explored the burden of feeding difficulties and need for gastrostomy across 3 DS populations in the United Kingdom. We document caregiver opinion and postgastrostomy outcomes, and provide guidance regarding feeding issues and gastrostomy in DS.

Methods: A retrospective, observational study was conducted; data were collected from medical records of 124 individuals with DS attending clinics at the National Hospital for Neurology and Neurosurgery, and Great Ormond Street Hospital, and from 65 DS caregiver responses to a UK-wide survey.

Results: In total, 64 of 124 (52%) had at least 1 feeding difficulty; 21 of 124 (17%) had a gastrostomy, and gastrostomy was being considered in 5%; the most common reasons for gastrostomy were poor appetite (81%) and weight loss/failure to gain weight (71%). Median age at gastrostomy was 17 years (range 2.5-59). Multivariate analyses identified several factors that in combination contributed to risk of feeding difficulties and gastrostomy, including treatment with several antiseizure medications (ASMs), of which stiripentol made a unique contribution to risk of gastrostomy (p = 0.048, odds ratio 3.20, 95% CI 1.01-10.16). Preinsertion, 88% of caregivers were worried about the gastrostomy, with concerns across a range of issues. Postgastrostomy, 88% of caregivers were happy that their child had the gastrostomy, and >90% agreed that the gastrostomy ensured medication compliance, that their child's overall health was better, and that quality of life improved.

Discussion: Feeding difficulties are common in DS, and 17% require a gastrostomy to address these. Risk factors for feeding difficulties in DS are unknown, but ASMs may play a role. There is a high level of caregiver concern regarding gastrostomy preprocedure; however, postgastrostomy caregiver opinion is positive. Feeding difficulties should be proactively sought during review of people with DS, and the potential need for gastrostomy should be discussed.

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来源期刊
Neurology. Clinical practice
Neurology. Clinical practice CLINICAL NEUROLOGY-
CiteScore
4.00
自引率
0.00%
发文量
77
期刊介绍: Neurology® Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. The journal publishes original articles in all areas of neurogenetics including rare and common genetic variations, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease genes, and genetic variations with a putative link to diseases. Articles include studies reporting on genetic disease risk, pharmacogenomics, and results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology® Genetics, but studies using model systems for treatment trials, including well-powered studies reporting negative results, are welcome.
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