STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.

IF 2.6 4区医学 Q2 CLINICAL NEUROLOGY

Movement Disorders Clinical Practice Pub Date : 2025-04-07 DOI:10.1002/mdc3.70071

Diane Pina, Agathe Roubertie, Marie-Aude Spitz, Claudia Ravelli, Nadia Bahi-Buisson, Farha Gheurbi, Marion Buchy, Thomas Loppinet, Nicole Chemaly-Perin, Marie-Christine Nougues, Benedicte Heron, Regis Lopez, Mathieu Anheim, Mélanie Fradin, Claude Cances, Justine Avez-Couturier, Fabienne Dalmon, Gaëtan Lesca, Vincent Des Portes, Laurence Lion-François

{"title":"STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.","authors":"Diane Pina, Agathe Roubertie, Marie-Aude Spitz, Claudia Ravelli, Nadia Bahi-Buisson, Farha Gheurbi, Marion Buchy, Thomas Loppinet, Nicole Chemaly-Perin, Marie-Christine Nougues, Benedicte Heron, Regis Lopez, Mathieu Anheim, Mélanie Fradin, Claude Cances, Justine Avez-Couturier, Fabienne Dalmon, Gaëtan Lesca, Vincent Des Portes, Laurence Lion-François","doi":"10.1002/mdc3.70071","DOIUrl":null,"url":null,"abstract":"Background: Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long-term clinical outcomes is lacking.Objectives: We provide a long-term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory.Methods: Twenty-eight patients from nine French hospitals were included based on clinical diagnosis criteria. Adaptive abilities were assessed using VABS-II.Results: VABS-II showed preserved adaptive abilities, except in motor skills. Early development was marked by neurodevelopmental delay in 53% of patients, with 57% developing neurodevelopmental disorders, primarily specific learning disorders. Intellectual disability and/or autism spectrum disorder were present in five patients. Symptoms were most frequent during the first 3 years of life, with persistence of exaggerated startle reflex and falls. One-quarter of the patients discontinued clonazepam. A genetic variant was found in 85% of patients, involving one of the three main genes GLRA1, SLC6A5, or GLRB.Conclusions: Our findings highlight preserved adaptive abilities, frequent neurodevelopmental disorders and long-term pharmacodependence.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Movement Disorders Clinical Practice","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mdc3.70071","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long-term clinical outcomes is lacking.

Objectives: We provide a long-term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory.

Methods: Twenty-eight patients from nine French hospitals were included based on clinical diagnosis criteria. Adaptive abilities were assessed using VABS-II.

Results: VABS-II showed preserved adaptive abilities, except in motor skills. Early development was marked by neurodevelopmental delay in 53% of patients, with 57% developing neurodevelopmental disorders, primarily specific learning disorders. Intellectual disability and/or autism spectrum disorder were present in five patients. Symptoms were most frequent during the first 3 years of life, with persistence of exaggerated startle reflex and falls. One-quarter of the patients discontinued clonazepam. A genetic variant was found in 85% of patients, involving one of the three main genes GLRA1, SLC6A5, or GLRB.

Conclusions: Our findings highlight preserved adaptive abilities, frequent neurodevelopmental disorders and long-term pharmacodependence.

查看原文本刊更多论文

STARDEV研究：惊吓病/高丛症患者的神经发育轨迹和长期预后

背景：虽然高丛症/惊吓症的初始临床表现是众所周知的，但缺乏长期临床结果的数据。目的：我们从临床和药理学角度提供长期评估，重点关注神经发育轨迹。方法：根据临床诊断标准选取法国9家医院28例患者。采用VABS-II评估适应能力。结果：除运动技能外，VABS-II表现出保留的适应能力。53%的早期发育患者表现为神经发育迟缓，57%的患者表现为神经发育障碍，主要是特异性学习障碍。5例患者存在智力障碍和/或自闭症谱系障碍。症状最常见于生命的前3年，伴有持续的夸张惊吓反射和跌倒。四分之一的患者停用氯硝西泮。在85%的患者中发现了一种基因变异，涉及三个主要基因GLRA1、SLC6A5或GLRB中的一个。结论：我们的研究结果强调了保留的适应能力，频繁的神经发育障碍和长期的药物依赖。

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

Movement Disorders Clinical Practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

7.50%

发文量

218

期刊介绍： Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)