Montanaro Federica Alice Maria, Alfieri Paolo, Vicari Stefano
Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Department of Education, Psychology, Communication, University of Bari Aldo Moro, 70121 Bari, Italy.
Brain Sci. 2023 Feb 7;13(2):277. doi: 10.3390/brainsci13020277.
Fragile X Syndrome is the most known inherited form of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the gene located on X chromosomes leading to gene silencing. Despite clear knowledge of the cognitive-behavioral phenotype of FXS and the necessity of tailored interventions, empirical research on the effectiveness of behavioral treatments among patients with FXS is still lacking, with studies on adolescents and young adults even more insufficient. Here we present "Corposamente", a combined psychosocial-neuropsychological intervention conducted with a group of ten adolescents/young adults with FXS, who are non-ASD and without significant behavioral problems. In total, 20 sessions were performed, alternating between online and face-to-face meetings. At the end of the intervention, participants, family members and participants' educators anonymously completed a survey that was designed around key areas of improvement as well as treatment satisfaction. The survey results indicated that participants improved mostly in their ability to cope with negative emotions and that occupational intervention was considered the most effective technique both from families and participants. Our exploratory study suggests that group therapy for the management of the FXS cognitive-behavioral phenotype may be a promising approach to continue to pursue, mostly in adolescence when the environmental demands increase.
脆性X综合征是最常见的遗传性智力残疾形式,由于位于X染色体上的该基因启动子区域的全突变范围(>200个CGG重复序列)扩展,导致基因沉默。尽管对脆性X综合征的认知行为表型有清晰的了解,且需要量身定制的干预措施,但关于脆性X综合征患者行为治疗有效性的实证研究仍然缺乏,针对青少年和年轻人的研究更是不足。在此,我们介绍“Corposamente”,这是一项针对一组十名患有脆性X综合征的青少年/年轻人开展的心理社会 - 神经心理联合干预,他们无自闭症谱系障碍且无明显行为问题。总共进行了20次 sessions,在线会议和面对面会议交替进行。干预结束时,参与者、家庭成员和参与者的教育者匿名完成了一项围绕关键改进领域以及治疗满意度设计的调查。调查结果表明,参与者在应对负面情绪的能力方面有了很大提高,并且职业干预被家庭和参与者认为是最有效的技术。我们的探索性研究表明,针对脆性X综合征认知行为表型管理的团体治疗可能是一种值得继续探索的有前景的方法,尤其是在环境需求增加的青少年时期。 (注:原文中“sessions”未翻译,可能是特定术语未给出准确中文对应,可根据实际情况补充合适中文,比如“课程”等)