Understanding lived experiences with KCNQ2 developmental and epileptic encephalopathy

IF 2.3 3区医学 Q2 BEHAVIORAL SCIENCES

Epilepsy & Behavior Pub Date : 2025-09-04 DOI:10.1016/j.yebeh.2025.110670

Michele H. Potashman , Katja Rudell , Linda Abetz-Webb , Naomi Suminski , Audra Gold , Rinchen Doma , Kavita Jarodia , Chris Buckley , Matthew Ridley , Jason Lerner , Jim Mather , Vlad Coric , Adam L. Numis , Tristan T. Sands , John Millichap , Anne T. Berg , Gil L’Italien

{"title":"Understanding lived experiences with KCNQ2 developmental and epileptic encephalopathy","authors":"Michele H. Potashman , Katja Rudell , Linda Abetz-Webb , Naomi Suminski , Audra Gold , Rinchen Doma , Kavita Jarodia , Chris Buckley , Matthew Ridley , Jason Lerner , Jim Mather , Vlad Coric , Adam L. Numis , Tristan T. Sands , John Millichap , Anne T. Berg , Gil L’Italien","doi":"10.1016/j.yebeh.2025.110670","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div><em>KCNQ2</em> developmental and epileptic encephalopathy (<em>KCNQ2</em>-DEE) is a rare pediatric disorder characterized by seizures and neurodevelopmental impairments. Parent- and healthcare professional (HCP)-reported outcomes regarding the impacts of seizures and neurodevelopmental impairments may guide the design of clinically meaningful <em>KCNQ2</em>-DEE outcome measures.</div></div><div><h3>Methods</h3><div>Parents of children with <em>KCNQ2</em>-DEE (N = 53) and HCPs with <em>KCNQ2</em>-DEE expertise (N = 2) participated in qualitative interviews exploring signs, symptoms, and impacts of <em>KCNQ2</em>-DEE, and how varying <em>KCNQ2</em>-DEE phenotypes affect child development. Interviews were recorded, transcribed, coded, and analyzed by ATLAS.Ti v23 software.</div></div><div><h3>Results</h3><div>The most common <em>KCNQ2</em>-DEE concepts parents reported were difficulties with communication (88.9 %), and gross (81.5 %) and fine (63.0 %) motor problems. Difficulty with communication (74.1 %), behavioral disorders (37.0 %), and gross motor problems (24.1 %) were the most impactful and bothersome issues for parents. When asked to rate how impacted they were by each concept (0 = “not impacted” to 10 = “extremely impacted”), the most bothersome symptoms were difficulty with communication (mean score [SD] = 8.6 [1.7]; 87.0 % of parents), cognitive delays (8.1 [2.0]; 37.0 % parents), and personal care and hygiene issues (7.4 [2.2]; 29.6 % parents). Seizures were the least bothersome symptom post-infancy (mean score [SD] = 5.3 [3.6]; 87.0 % parents). Children’s developmental abilities varied substantially within and between <em>KCNQ2</em>-DEE phenotypes and across age groups. Overall, HCPs reported largely similar concepts to parents of children with <em>KCNQ2</em>-DEE.</div></div><div><h3>Conclusions</h3><div>These findings identify outcome domains important to those with <em>KCNQ2</em>-DEE and may inform the development of measurement tools and endpoint selection for therapeutic trials.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"172 ","pages":"Article 110670"},"PeriodicalIF":2.3000,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epilepsy & Behavior","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S152550502500410X","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"BEHAVIORAL SCIENCES","Score":null,"Total":0}

引用次数: 0

Abstract

Background

KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE) is a rare pediatric disorder characterized by seizures and neurodevelopmental impairments. Parent- and healthcare professional (HCP)-reported outcomes regarding the impacts of seizures and neurodevelopmental impairments may guide the design of clinically meaningful KCNQ2-DEE outcome measures.

Methods

Parents of children with KCNQ2-DEE (N = 53) and HCPs with KCNQ2-DEE expertise (N = 2) participated in qualitative interviews exploring signs, symptoms, and impacts of KCNQ2-DEE, and how varying KCNQ2-DEE phenotypes affect child development. Interviews were recorded, transcribed, coded, and analyzed by ATLAS.Ti v23 software.

Results

The most common KCNQ2-DEE concepts parents reported were difficulties with communication (88.9 %), and gross (81.5 %) and fine (63.0 %) motor problems. Difficulty with communication (74.1 %), behavioral disorders (37.0 %), and gross motor problems (24.1 %) were the most impactful and bothersome issues for parents. When asked to rate how impacted they were by each concept (0 = “not impacted” to 10 = “extremely impacted”), the most bothersome symptoms were difficulty with communication (mean score [SD] = 8.6 [1.7]; 87.0 % of parents), cognitive delays (8.1 [2.0]; 37.0 % parents), and personal care and hygiene issues (7.4 [2.2]; 29.6 % parents). Seizures were the least bothersome symptom post-infancy (mean score [SD] = 5.3 [3.6]; 87.0 % parents). Children’s developmental abilities varied substantially within and between KCNQ2-DEE phenotypes and across age groups. Overall, HCPs reported largely similar concepts to parents of children with KCNQ2-DEE.

Conclusions

These findings identify outcome domains important to those with KCNQ2-DEE and may inform the development of measurement tools and endpoint selection for therapeutic trials.

查看原文本刊更多论文

了解KCNQ2发育性和癫痫性脑病患者的生活经历

kcnq2发育性和癫痫性脑病（KCNQ2-DEE）是一种罕见的以癫痫发作和神经发育障碍为特征的儿科疾病。父母和医疗保健专业人员（HCP）报告的有关癫痫发作和神经发育障碍影响的结果可以指导设计具有临床意义的KCNQ2-DEE结果测量。方法对KCNQ2-DEE患儿家长（53例）和具有KCNQ2-DEE专业知识的HCPs（2例）进行定性访谈，探讨KCNQ2-DEE的体征、症状和影响，以及不同的KCNQ2-DEE表型对儿童发育的影响。访谈由ATLAS进行记录、转录、编码和分析。Ti v23软件。结果最常见的KCNQ2-DEE概念是沟通困难（88.9%）、粗大（81.5%）和精细（63.0%）运动问题。沟通困难（74.1%）、行为障碍（37.0%）和大运动问题（24.1%）是对父母影响最大和最麻烦的问题。当被要求评价每个概念对他们的影响程度时（0 =“没有影响”到10 =“严重影响”），最令人烦恼的症状是沟通困难（平均得分[SD] = 8.6[1.7]； 87.0%的父母），认知迟缓（8.1[2.0]；37.0%的父母），以及个人护理和卫生问题（7.4[2.2]；29.6%的父母）。癫痫发作是婴儿期后最不麻烦的症状（平均评分[SD] = 5.3[3.6]； 87%的家长）。儿童的发育能力在KCNQ2-DEE表型内部和之间以及不同年龄组之间存在很大差异。总体而言，HCPs报告的概念与KCNQ2-DEE患儿的父母大致相似。这些发现确定了对KCNQ2-DEE患者重要的结局域，并可能为治疗试验的测量工具和终点选择的发展提供信息。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Epilepsy & Behavior 医学-行为科学

CiteScore

5.40

自引率

15.40%

发文量

385

审稿时长

43 days

期刊介绍： Epilepsy & Behavior is the fastest-growing international journal uniquely devoted to the rapid dissemination of the most current information available on the behavioral aspects of seizures and epilepsy. Epilepsy & Behavior presents original peer-reviewed articles based on laboratory and clinical research. Topics are drawn from a variety of fields, including clinical neurology, neurosurgery, neuropsychiatry, neuropsychology, neurophysiology, neuropharmacology, and neuroimaging. From September 2012 Epilepsy & Behavior stopped accepting Case Reports for publication in the journal. From this date authors who submit to Epilepsy & Behavior will be offered a transfer or asked to resubmit their Case Reports to its new sister journal, Epilepsy & Behavior Case Reports.