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。

IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Intractable & rare diseases 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
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引用次数: 0

摘要

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

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.

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来源期刊
Intractable & rare diseases research
Intractable & rare diseases research MEDICINE, GENERAL & INTERNAL-
CiteScore
2.10
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0.00%
发文量
29
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