Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome.

IF 2 4区 医学 Q1 EDUCATION, SPECIAL
Cristan Farmer, Ivy Giserman-Kiss, Ellora Mohanty, Latha Valluripalli Soorya, Mustafa Sahin, Alexander Kolevzon, Joseph D Buxbaum, Elizabeth Berry-Kravis, Craig M Powell, Jonathan A Bernstein, Audrey Thurm
{"title":"Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome.","authors":"Cristan Farmer, Ivy Giserman-Kiss, Ellora Mohanty, Latha Valluripalli Soorya, Mustafa Sahin, Alexander Kolevzon, Joseph D Buxbaum, Elizabeth Berry-Kravis, Craig M Powell, Jonathan A Bernstein, Audrey Thurm","doi":"10.1352/1944-7558-130.5.362","DOIUrl":null,"url":null,"abstract":"<p><p>Phelan-McDermid syndrome (PMS) is a genetic condition associated with profound neurodevelopmental disabilities. This study described patterns of onset and loss of developmental milestones and associated skills using questionnaire data from the PMS International Registry (N = 374) and clinician-led assessment data from the Developmental Synaptopathies Consortium natural history study (N = 207). Across studies, an overwhelming proportion of people with PMS were reported to have delays in acquiring basic skills, and regression or loss of skills was commonly reported across multiple developmental domains, including some after the age of 10. The current descriptive study synthesizes two complementary data sources showing loss occurring in the context of significant delays and frequent lack of milestone attainment in people with PMS. Further work to elucidate mechanisms is needed.</p>","PeriodicalId":51508,"journal":{"name":"Ajidd-American Journal on Intellectual and Developmental Disabilities","volume":"130 5","pages":"362-379"},"PeriodicalIF":2.0000,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ajidd-American Journal on Intellectual and Developmental Disabilities","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1352/1944-7558-130.5.362","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"EDUCATION, SPECIAL","Score":null,"Total":0}
引用次数: 0

Abstract

Phelan-McDermid syndrome (PMS) is a genetic condition associated with profound neurodevelopmental disabilities. This study described patterns of onset and loss of developmental milestones and associated skills using questionnaire data from the PMS International Registry (N = 374) and clinician-led assessment data from the Developmental Synaptopathies Consortium natural history study (N = 207). Across studies, an overwhelming proportion of people with PMS were reported to have delays in acquiring basic skills, and regression or loss of skills was commonly reported across multiple developmental domains, including some after the age of 10. The current descriptive study synthesizes two complementary data sources showing loss occurring in the context of significant delays and frequent lack of milestone attainment in people with PMS. Further work to elucidate mechanisms is needed.

菲伦-麦克德米综合征的技能获得和技能丧失的回顾性报告。
Phelan-McDermid综合征(PMS)是一种与深度神经发育障碍相关的遗传病。本研究使用来自PMS国际登记处的问卷数据(N = 374)和来自发育突触病变联盟自然史研究的临床主导评估数据(N = 207)来描述发育里程碑和相关技能的发生和丧失模式。研究表明,绝大多数经前症候群患者在获得基本技能方面存在延迟,在多个发育领域(包括10岁以后)普遍存在技能退化或丧失的情况。目前的描述性研究综合了两个互补的数据来源,显示了经前综合症患者在显著延迟和经常缺乏里程碑成就的背景下发生的损失。需要进一步的工作来阐明机制。
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
CiteScore
3.10
自引率
4.80%
发文量
47
期刊介绍: The American Journal on Intellectual and Developmental Disabilities (Print ISSN: 1944–7515; Online ISSN: 1944–7558) is published by the American Association on Intellectual and Developmental Disabilities. It is a scientifi c, scholarly, and archival multidisciplinary journal for reporting original contributions of the highest quality to knowledge of intellectual disabilities, its causes, treatment, and prevention.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信