天使综合征成人喂养问题与胃肠道症状、语言和发展史的关系

IF 1.7 4区 生物学 Q3 GENETICS & HEREDITY
Ciara Cassidy, Arlene Mannion, Sally Whelan, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader
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引用次数: 0

摘要

天使人综合症(AS)是一种神经发育障碍,其特征是严重的发育迟缓、典型的面部特征、共济失调、癫痫、语言障碍、睡眠困难和快乐的举止。AS患者的护理人员经常报告喂养问题,困难包括肥胖问题,未能按预期速度增加体重,寻找食物行为和需要管饲。这项研究调查了57名成年AS患者出现进食问题的频率、最常见的进食问题类型、经历进食问题的人之间的联系和差异,以及进食问题的预测因素。护理人员通过全球天使综合症登记处(Global Angelman Syndrome Registry)提供信息,这是一个收集AS患者信息的全球数据库。研究发现,喂养问题的发生率很高,83%的成年人遇到了喂养问题。最常见的问题是寻找食物的行为。分析发现,喂养问题与胃肠道症状、语言和沟通之间存在显著关联。分析没有发现这些变量能显著预测成年AS患者的喂养问题。本研究的结果通过强调与喂养问题相关的变量,最常见的问题类型,以及成年AS患者中喂养问题的高发率,扩展了当前的文献。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome.

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain weight at the expected rate, food-seeking behaviors, and the requirement of tube-feeding. This study examined the frequency of feeding problems in 57 adults with AS, the most common types of issues, the associations and differences between those who experience feeding problems, and the predictors of feeding problems. Caregivers provided information through the Global Angelman Syndrome Registry, a global database that gathers information on individuals with AS. High rates of feeding problems were found, with 83% of adults experiencing feeding problems. The most common issue reported was food-seeking behaviors. Analyses found significant associations between feeding problems and gastrointestinal symptoms, and language and communication. Analyses did not find these variables to significantly predict feeding problems in adults with AS. The results of this study extend the current literature by highlighting the variables that are associated with feeding problems, the most common types of problems, and the high rates of feeding problems among adults with AS.

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来源期刊
CiteScore
3.50
自引率
5.00%
发文量
432
审稿时长
2-4 weeks
期刊介绍: The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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