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Co-occurring medical conditions among individuals with ASD-associated disruptive mutations
Children's Health Care ( IF 1.032 ) Pub Date : 2020-03-17 , DOI: 10.1080/02739615.2020.1741361
Evangeline C. Kurtz-Nelson 1 , Jennifer S. Beighley 1 , Caitlin M. Hudac 2 , Jennifer Gerdts 1 , Arianne S. Wallace 1 , Kendra Hoekzema 3 , Evan E. Eichler 3, 4 , Raphael A. Bernier 1
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ABSTRACT Children with autism spectrum disorder (ASD) are at risk for co-occurring medical conditions, many of which have also been reported among individuals with mutations in ASD-associated genes. This study examined rates of co-occurring medical conditions across 301 individuals with disruptive mutations to 1 of 18 ASD-risk genes in comparison to rates of conditions in an idiopathic ASD sample. Rates of gastrointestinal problems, seizures, physical anomalies, and immune problems were generally elevated, with significant differences in rates observed between groups. Results may inform medical care of individuals with ASD-associated mutations and research into mechanisms of co-occurring medical conditions in ASD.

中文翻译:

与ASD相关的破坏性突变的个体中同时发生的医疗状况

摘要患有自闭症谱系障碍(ASD)的儿童有患共病的风险,据报道,在与ASD相关的基因发生突变的个体中,有许多人患有此病。这项研究比较了特发性ASD样本中301个人的18种ASD风险基因突变突变的同时发生的医疗状况。胃肠道问题,癫痫发作,身体异常和免疫问题的发生率普遍升高,各组之间观察到的发生率存在显着差异。结果可能会为患有ASD相关突变的个体提供医疗服务,并研究ASD中同时发生的医疗状况的机制。
更新日期:2020-03-17
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