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本文引用的文献

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Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.脆性 X 综合征镶嵌性相关的智力功能和行为特征。
J Neurodev Disord. 2019 Dec 26;11(1):41. doi: 10.1186/s11689-019-9288-7.
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Developmental divergence: motor trajectories in children with fragile X syndrome with and without co-occurring autism.发育分歧:脆性 X 综合征伴发和不伴发自闭症儿童的运动轨迹。
J Neurodev Disord. 2019 Oct 5;11(1):23. doi: 10.1186/s11689-019-9281-1.
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Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents.与脆性 X 综合征共同成长:青年患者及其父母的关注和护理需求。
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Longitudinal trajectories of aberrant behavior in fragile X syndrome.脆性X综合征异常行为的纵向轨迹
Res Dev Disabil. 2014 Nov;35(11):2691-701. doi: 10.1016/j.ridd.2014.07.003. Epub 2014 Aug 15.
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Exploring the adult life of men and women with fragile X syndrome: results from a national survey.探索脆性 X 综合征男性和女性的成年生活:一项全国性调查的结果。
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Self-injurious behavior and fragile X syndrome: findings from the national fragile X survey.自伤行为与脆性 X 综合征:来自全国脆性 X 综合征调查的结果。
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The fragile X prevalence paradox.脆性X综合征患病率悖论。
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Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder.自闭症谱系障碍中的细胞遗传学异常与脆性X综合征
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在遗传服务有限的印度尼西亚脆性X综合征患者中的异常行为特征

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

作者信息

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

机构信息

Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, Central Java, Indonesia.

Department of Psychiatry, Faculty of Medicine, Universitas Diponegoro, Semarang, Central Java, Indonesia.

出版信息

Intractable Rare Dis Res. 2022 Nov;11(4):215-218. doi: 10.5582/irdr.2022.01075.

DOI:10.5582/irdr.2022.01075
PMID:36457587
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9709619/
Abstract

Fragile X syndrome (FXS) is caused by the full mutation in the fragile x messenger ribonucleoprotein 1 () 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 = 0.046 and = 0.001, respectively. Overall irritability in FXS individuals significantly decreased over time ( = -0.141; = 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.

摘要

脆性X综合征(FXS)由脆性X信使核糖核蛋白1()基因的完全突变引起,导致脆性X蛋白(FXP)缺失。先前的研究表明,FXS患者的行为会随时间变化;因此,本研究旨在阐明FXS患者的异常行为特征。采用异常行为检查表-社区版(ABC-C)来测量FXS患者的异常行为特征,由家长/照顾者结合临床印象进行评分。总共58个项目用于评估五个分量表中的异常行为。纳入了49例FXS患者(男性32例,女性17例),男性平均年龄为32.9±14.62岁,女性平均年龄为33.4±13.98岁。男性FXS患者的易怒和多动平均得分(分别为5.37±6.231和10.28±8.524)显著高于女性患者(分别为3.24±7.093和3.76±3.327),P值分别为0.046和0.001。随着时间的推移,FXS患者的总体易怒程度显著降低(P=-0.141;P=0.032)。观察到男性FXS患者在不同年龄段的嗜睡/社交退缩有适度恶化,而多动/不依从有轻微改善。在各年龄段,FXS男性比FXS女性有更严重的多动问题。