神经遗传性疾病中幼儿食欲过多特征的特异性。

IF 16.4 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY
Sara M Andrews, Anita A Panjwani, Sarah Nelson Potter, Lisa R Hamrick, Anne C Wheeler, Bridgette L Kelleher
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引用次数: 0

摘要

多食症在普拉德-威利综合征(PWS)中的发病率很高,在其他神经遗传病(NGC)中的发病率也越来越高。患有 PWS(17 人)、安杰曼综合征(AS;22 人)、威廉姆斯综合征(WS;25 人)或低风险对照组(LRC;35 人)的 4-8 岁儿童的看护人填写了多食症问卷(HQ)。与 LRC 相比,所有 NGC 组的 HQ 总分和行为得分都明显升高。只有 AS 和 WS 在 "驱动力 "方面有明显提高,只有 PWS 在 "严重性 "方面有明显提高。在控制了外化行为后,PWS 的 HQ 总分高于其他组别。在儿童早期,过度嗜食症状可能无法将 PWS 与其他 NGCs 区分开来。然而,多食症状在PWS中可能最为严重。对这些特征的进一步研究可为病因学和针对特定综合症的治疗提供信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions.

Hyperphagia is highly penetrant in Prader-Willi syndrome (PWS) and has increasingly been reported in other neurogenetic conditions (NGC). The Hyperphagia Questionnaire (HQ) was completed by caregivers of 4-8-year-olds with PWS (n = 17), Angelman syndrome (AS; n = 22), Williams syndrome (WS; n = 25), or low-risk controls (LRC; n = 35). All NGC groups were significantly elevated in HQ Total and Behavior scores compared to LRC. Only AS and WS were significantly elevated in the Drive domain, and only PWS in the Severity domain. After controlling for externalizing behavior, HQ Total scores were higher for PWS relative to other groups. Hyperphagic symptoms may not differentiate PWS from other NGCs in early childhood. However, hyperphagic phenotypes may be most severe in PWS. Further investigation of these profiles may inform etiology and syndrome-specific treatments.

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来源期刊
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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