A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility.
A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility.
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DOI：
10.3390/bs8030035
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发表时间：
2018-03-17
期刊：
影响因子：
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通讯作者：
Casanova MF
中科院分区：
文献类型：
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作者：
Casanova EL;Sharp JL;Edelson SM;Kelly DP;Casanova MF
有报告表明自闭症谱系障碍（ASD）和结缔组织疾病Ehlers-Danlos综合征（EDS）之间存在共病。患有EDS和更广泛的全身性关节过度活动（GJH）的人通常会出现免疫和内分泌介导的疾病。同时，免疫/内分泌失调是自闭症研究的热门主题。我们调查了一组有/无GJH的ASD妇女，以确定免疫/内分泌表型的差异。25岁或以上的ASD女性被邀请参加在线调查。受访者完成了一份关于诊断、免疫/内分泌症状史、疼痛经历和癫痫发作史的问卷。患有GJH的ASD女性（ASD/GJH）比非GJH女性报告了更多的免疫和内分泌介导的疾病（p = 0.001）。自身免疫性疾病在ASD/GJH组中尤其突出（p = 0.027）。免疫介导的症状的存在通常彼此共同发生（p < 0.001-0.020），内分泌介导的症状也是如此（p < 0.001-0.045），与组无关。最后，免疫和内分泌介导的症状的数量具有很强的相互关系（p < 0.001），表明潜在的系统串扰。虽然我们的研究结果不能估计合并症，但它们加强了ASD和GJH之间病因关系的概念。同时，ASD/GJH女性与非GJH女性相比具有复杂的免疫/内分泌外表型。此外，我们还讨论了结缔组织如何调节免疫系统，以及免疫/内分泌系统如何反过来调节胶原蛋白的合成，从而可能导致该亚群中GJH的发生率更高。
Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and endocrine-mediated conditions. Meanwhile, immune/endocrine dysregulation is a popular theme in autism research. We surveyed a group of ASD women with/without GJH to determine differences in immune/endocrine exophenotypes. ASD women 25 years or older were invited to participate in an online survey. Respondents completed a questionnaire concerning diagnoses, immune/endocrine symptom history, experiences with pain, and seizure history. ASD women with GJH (ASD/GJH) reported more immune- and endocrine-mediated conditions than their non-GJH counterparts (p = 0.001). Autoimmune conditions were especially prominent in the ASD/GJH group (p = 0.027). Presence of immune-mediated symptoms often co-occurred with one another (p < 0.001–0.020), as did endocrine-mediated symptoms (p < 0.001–0.045), irrespective of the group. Finally, the numbers of immune- and endocrine-mediated symptoms shared a strong inter-relationship (p < 0.001), suggesting potential system crosstalk. While our results cannot estimate comorbidity, they reinforce concepts of an etiological relationship between ASD and GJH. Meanwhile, women with ASD/GJH have complex immune/endocrine exophenotypes compared to their non-GJH counterparts. Further, we discuss how connective tissue regulates the immune system and how the immune/endocrine systems in turn may modulate collagen synthesis, potentially leading to higher rates of GJH in this subpopulation.