PDF(Pubmed)
Abstract：
UNASSIGNED: FOXP1 syndrome is a rare neurodevelopmental disorder due to forkhead box protein 1 (FOXP1) gene mutations and is associated with intellectual disability, dysmorphic features, and autism spectrum disorder. We aimed to assess body-focused repetitive behavior (BFRB) prevalence in this patient population using a cross-sectional survey-based study.
UNASSIGNED: A validated survey assessing for BFRBs was administered to parents attending the International FOXP1 Foundation conference on June 21, 2023, and was sent to a FOXP1 syndrome listserv.
UNASSIGNED: Excoriation disorder, onychophagia, onychotillomania, and trichotillomania were reported by 58.6%, 38.6%, 29.7%, and 10.0% of subjects, with 63.4%, 59.3%, 54.5%, and 14.3% having moderate to severe disease, respectively. Overall, 28.6%, 30.0%, and 10.0% had one, two, and three BFRBs, respectively.
UNASSIGNED: Prevalence of BFRBs is high among FOXP1 syndrome patients surveyed, affecting quality of life for patients and their families and causing significant sequelae.
UNASSIGNED: A validated survey assessing for BFRBs was administered to parents attending the International FOXP1 Foundation conference on June 21, 2023, and was sent to a FOXP1 syndrome listserv.
UNASSIGNED: Excoriation disorder, onychophagia, onychotillomania, and trichotillomania were reported by 58.6%, 38.6%, 29.7%, and 10.0% of subjects, with 63.4%, 59.3%, 54.5%, and 14.3% having moderate to severe disease, respectively. Overall, 28.6%, 30.0%, and 10.0% had one, two, and three BFRBs, respectively.
UNASSIGNED: Prevalence of BFRBs is high among FOXP1 syndrome patients surveyed, affecting quality of life for patients and their families and causing significant sequelae.
摘要：
■FOXP1综合征是一种罕见的神经发育障碍，由于叉头框蛋白1（FOXP1）基因突变，与智力障碍有关，变形特征，和自闭症谱系障碍。我们旨在使用基于横断面调查的研究来评估该患者人群中专注于身体的重复行为（BFRB）的患病率。
■对参加2023年6月21日国际FOXP1基金会会议的父母进行了一项经过验证的BFRB调查评估，并将其发送给FOXP1综合征列表服务器。
■祛除障碍，甲癣,onychotillomania,毛滴虫病报告为58.6%，38.6%,29.7%,和10.0%的科目，63.4%，59.3%,54.5%,14.3%患有中度至重度疾病，分别。总的来说,28.6%,30.0%,10.0%有一个，两个,和三个BFRB，分别。
■在接受调查的FOXP1综合征患者中，BFRBs的患病率很高，影响患者及其家属的生活质量，造成重大后遗症。
■对参加2023年6月21日国际FOXP1基金会会议的父母进行了一项经过验证的BFRB调查评估，并将其发送给FOXP1综合征列表服务器。
■祛除障碍，甲癣,onychotillomania,毛滴虫病报告为58.6%，38.6%,29.7%,和10.0%的科目，63.4%，59.3%,54.5%,14.3%患有中度至重度疾病，分别。总的来说,28.6%,30.0%,10.0%有一个，两个,和三个BFRB，分别。
■在接受调查的FOXP1综合征患者中，BFRBs的患病率很高，影响患者及其家属的生活质量，造成重大后遗症。
