遗传和环境对自闭症谱系条件和注意缺陷/多动障碍共同发生的身体健康状况的影响。

IF 6.3 1区 医学 Q1 GENETICS & HEREDITY Molecular Autism Pub Date : 2023-04-21 DOI:10.1186/s13229-023-00548-3
Pei-Yin Pan, Mark J Taylor, Henrik Larsson, Catarina Almqvist, Paul Lichtenstein, Sebastian Lundström, Sven Bölte
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引用次数: 1

摘要

背景:自闭症谱系状况和注意缺陷/多动障碍(ADHD)与一系列身体健康状况相关。本研究的目的是检查导致自闭症和ADHD共同发生的身体健康状况的病因学成分。方法:在瑞典全国范围的儿童和青少年双胞胎研究中,我们分析了10,347对9岁和12岁的双胞胎的数据。自闭症、多动症和身体健康状况的临床诊断是通过瑞典国家患者登记册确定的。自闭症和ADHD的亚临床表型通过标准化的父母访谈、自闭症抽动症、ADHD和其他合并症量表的症状阈值来定义。使用广义估计方程检验身体健康状况与自闭症/ADHD表型之间的关联。应用双变量双胞胎模型来估计遗传和环境风险因素对身体健康合并症的影响程度。结果:在临床和亚临床自闭症/ADHD中发现了相似的与身体健康状况相关的模式,其比值比从亚临床ADHD中哮喘的1.31到临床自闭症中癫痫的8.03不等。临床自闭症与癫痫的估计遗传相关(ra)为0.50,亚临床自闭症为0.35。此外,估计临床自闭症与便秘(ra = 0.31)、功能性腹泻(ra = 0.27)以及混合胃肠道疾病(ra = 0.30)之间存在适度的遗传相关性。遗传效应对临床ADHD混合性胃肠道疾病的贡献率为0.86 (ra = 0.21)。最后,亚临床ADHD与癫痫、便秘和混合胃肠道疾病有共同的遗传危险因素(ra分别为0.30、0.17和0.17)。局限性:重要的是,由于来自初级保健的医疗记录未包括在所使用的登记数据中,我们可能只确定了更严重的身体健康状况,而不是所有的身体健康状况。此外,需要考虑的是,自闭症儿童和多动症儿童中较高的身体健康状况患病率可能与就诊次数增加有关。结论:共同的遗传效应在自闭症和ADHD表型中起着重要作用,并在不同器官系统中共同发生身体健康状况,包括癫痫和胃肠道疾病。在不同程度的自闭症和ADHD症状严重程度中,共同的遗传倾向和共同发生的身体健康状况都存在。
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Genetic and environmental contributions to co-occurring physical health conditions in autism spectrum condition and attention-deficit/hyperactivity disorder.

Background: Autism spectrum condition and attention-deficit/hyperactivity disorder (ADHD) are associated with a range of physical health conditions. The aim of this study was to examine the etiological components contributing to co-occurring physical health conditions in autism and ADHD.

Methods: In this nationwide Child and Adolescent Twin Study in Sweden, we analyzed data from 10,347 twin pairs aged 9 and 12. Clinical diagnoses of autism, ADHD, and physical health conditions were identified through the Swedish National Patient Register. Subclinical phenotypes of autism and ADHD were defined by symptom thresholds on a standardized parent-interview, the Autism-Tics, ADHD, and Other Comorbidities inventory. Associations between physical health conditions and autism/ADHD phenotypes were examined using generalized estimating equations. Bivariate twin models were applied to estimate the extent to which genetic and environmental risk factors accounted for physical health comorbidities.

Results: Similar patterns of association with physical health conditions were found in clinical and subclinical autism/ADHD, with odds ratios ranging from 1.31 for asthma in subclinical ADHD to 8.03 for epilepsy in clinical autism. The estimated genetic correlation (ra) with epilepsy was 0.50 for clinical autism and 0.35 for subclinical autism. In addition, a modest genetic correlation was estimated between clinical autism and constipation (ra = 0.31), functional diarrhea (ra = 0.27) as well as mixed gastrointestinal disorders (ra = 0.30). Genetic effects contributed 0.86 for mixed gastrointestinal disorders in clinical ADHD (ra = 0.21). Finally, subclinical ADHD shared genetic risk factors with epilepsy, constipation, and mixed gastrointestinal disorders (ra = 0.30, 0.17, and 0.17, respectively).

Limitations: Importantly, since medical records from primary care were not included in the registry data used, we probably identified only more severe rather than the full range of physical health conditions. Furthermore, it needs to be considered that the higher prevalence of physical health conditions among autistic children and children with ADHD could be associated with the increased number of medical visits.

Conclusions: Shared genetic effects contribute significantly to autism and ADHD phenotypes with the co-occurring physical health conditions across different organ systems, including epilepsy and gastrointestinal disorders. The shared genetic liability with co-occurring physical health conditions was present across different levels of autism and ADHD symptom severity.

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来源期刊
Molecular Autism
Molecular Autism GENETICS & HEREDITY-NEUROSCIENCES
CiteScore
12.10
自引率
1.60%
发文量
44
审稿时长
17 weeks
期刊介绍: Molecular Autism is a peer-reviewed, open access journal that publishes high-quality basic, translational and clinical research that has relevance to the etiology, pathobiology, or treatment of autism and related neurodevelopmental conditions. Research that includes integration across levels is encouraged. Molecular Autism publishes empirical studies, reviews, and brief communications.
期刊最新文献
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