The aberrant behavior profile in Indonesian individuals with fragile X syndrome with limited genetic services.

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2022-11-01 DOI:10.5582/irdr.2022.01075

Tri Indah Winarni, Tanjung Ayu Sumekar, Widodo Sarjana, Hardian Hardian, Randi J Hagerman, Sultana Mh Faradz

{"title":"The aberrant behavior profile in Indonesian individuals with fragile X syndrome with limited genetic services.","authors":"Tri Indah Winarni, Tanjung Ayu Sumekar, Widodo Sarjana, Hardian Hardian, Randi J Hagerman, Sultana Mh Faradz","doi":"10.5582/irdr.2022.01075","DOIUrl":null,"url":null,"abstract":"Fragile X syndrome (FXS) is caused by the full mutation in the fragile x messenger ribonucleoprotein 1 (FMR1) gene leading to the absence of the fragile X protein (FXP). Previous studies show that individuals with FXS exhibit changing behavior over time; therefore, this study aimed to elucidate the aberrant behavior profile of FXS individuals. The Aberrant Behavior Checklist-Community (ABC-C) was used to measure the aberrant behavior profile of individuals with FXS, which was rated by the parent/caregiver combined with clinical impression. A total of 58 items were used to assess aberrant behaviors across five subscales. Forty-nine individuals with FXS were included (32 males, 17 females) with a mean age of 32.9 ± 14.62 years in males and 33.4 ± 13.98 years in females. The average score of irritability and hyperactivity was significantly higher in male FXS individuals (5.37 ± 6.231 and 10.28 ± 8.524) than in female individuals (3.24 ± 7.093 and 3.76 ± 3.327) with p = 0.046 and p = 0.001, respectively. Overall irritability in FXS individuals significantly decreased over time (ß = -0.141; p = 0.032). A modest worsening in lethargy/social withdrawal in males across age and a gentle improvement in hyperactivity/noncompliance in male of FXS individuals were observed. FXS males had higher hyperactivity problems than FXS female individuals across age.","PeriodicalId":1,"journal":{"name":"Accounts of Chemical Research","volume":" ","pages":"215-218"},"PeriodicalIF":16.4000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709619/pdf/irdr-11-215.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Accounts of Chemical Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5582/irdr.2022.01075","RegionNum":1,"RegionCategory":"化学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CHEMISTRY, MULTIDISCIPLINARY","Score":null,"Total":0}

引用次数: 0

Abstract

Fragile X syndrome (FXS) is caused by the full mutation in the fragile x messenger ribonucleoprotein 1 (FMR1) gene leading to the absence of the fragile X protein (FXP). Previous studies show that individuals with FXS exhibit changing behavior over time; therefore, this study aimed to elucidate the aberrant behavior profile of FXS individuals. The Aberrant Behavior Checklist-Community (ABC-C) was used to measure the aberrant behavior profile of individuals with FXS, which was rated by the parent/caregiver combined with clinical impression. A total of 58 items were used to assess aberrant behaviors across five subscales. Forty-nine individuals with FXS were included (32 males, 17 females) with a mean age of 32.9 ± 14.62 years in males and 33.4 ± 13.98 years in females. The average score of irritability and hyperactivity was significantly higher in male FXS individuals (5.37 ± 6.231 and 10.28 ± 8.524) than in female individuals (3.24 ± 7.093 and 3.76 ± 3.327) with p = 0.046 and p = 0.001, respectively. Overall irritability in FXS individuals significantly decreased over time (ß = -0.141; p = 0.032). A modest worsening in lethargy/social withdrawal in males across age and a gentle improvement in hyperactivity/noncompliance in male of FXS individuals were observed. FXS males had higher hyperactivity problems than FXS female individuals across age.

查看原文本刊更多论文

遗传服务有限的印度尼西亚脆性X综合征个体的异常行为特征。

脆性X综合征(Fragile X syndrome, FXS)是由脆性X信使核糖核蛋白1 (FMR1)基因完全突变导致脆性X蛋白(脆性X蛋白)缺失引起的。先前的研究表明，患有FXS的个体会随着时间的推移表现出不断变化的行为;因此，本研究旨在阐明FXS个体的异常行为特征。采用异常行为量表-社区量表(ABC-C)测量FXS个体的异常行为特征，由家长/照顾者结合临床印象对其进行评分。共有58个项目被用来评估五个子量表中的异常行为。FXS患者49例(男32例，女17例)，平均年龄(男32.9±14.62岁，女33.4±13.98岁)。FXS男性个体的易怒和多动平均得分(5.37±6.231和10.28±8.524)显著高于女性个体(3.24±7.093和3.76±3.327)，p = 0.046和p = 0.001。FXS个体的总体易怒程度随时间显著降低(ß = -0.141;P = 0.032)。观察到FXS个体的男性在不同年龄的嗜睡/社交退缩方面有轻微的恶化，而在多动/不服从方面有轻微的改善。不同年龄的FXS男性比FXS女性有更高的多动问题。

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

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.