Winarni Tri Indah, Sumekar Tanjung Ayu, Sarjana Widodo, Hardian Hardian, Hagerman Randi J, Faradz Sultana Mh
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.
Intractable Rare Dis Res. 2022 Nov;11(4):215-218. doi: 10.5582/irdr.2022.01075.
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.
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。