Autistic traits in youth with familial adenomatous polyposis: A Dutch–Canadian case–control study

IF 1.6 3区 医学 Q3 GENETICS & HEREDITY
Polina Perlman Danieli, Ny Hoang, Thanuja Selvanayagam, Alvin Yang, Elemi Breetvelt, Merit Tabbers, Christine Cohen, Arthur S. Aelvoet, Brett Trost, Thomas Ward, Kara Semotiuk, Carol Durno, Melyssa Aronson, Zane Cohen, Evelien Dekker, Jacob Vorstman
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Abstract

This study investigated the neurodevelopmental impact of pathogenic adenomatous polyposis coli (APC) gene variants in patients with familial adenomatous polyposis (FAP), a cancer predisposition syndrome. We hypothesized that certain pathogenic APC variants result in behavioral–cognitive challenges. We compared 66 FAP patients (cases) and 34 unaffected siblings (controls) to explore associations between APC variants and behavioral and cognitive challenges. Our findings indicate that FAP patients exhibited higher Social Responsiveness Scale (SRS) scores, suggesting a greater prevalence of autistic traits when compared to unaffected siblings (mean 53.8 vs. 47.4, Wilcoxon p = 0.018). The distribution of SRS scores in cases suggested a bimodal pattern, potentially linked to the location of the APC variant, with scores increasing from the 5′ to 3′ end of the gene (Pearson's r = 0.33, p = 0.022). While we observed a trend toward lower educational attainment in cases, this difference was not statistically significant. This study is the first to explore the connection between APC variant location and neurodevelopmental traits in FAP, expanding our understanding of the genotype–phenotype correlation. Our results emphasize the importance of clinical assessment for autistic traits in FAP patients, shedding light on the potential role of APC gene variants in these behavioral and cognitive challenges.

Abstract Image

家族性腺瘤性息肉病青少年的自闭症特征:一项荷兰-加拿大病例对照研究。
本研究调查了致病性腺瘤性息肉病大肠杆菌(APC)基因变异对家族性腺瘤性息肉病(FAP)(一种癌症易感综合征)患者神经发育的影响。我们假设某些致病性 APC 变异会导致行为认知方面的挑战。我们比较了 66 名 FAP 患者(病例)和 34 名未受影响的兄弟姐妹(对照组),以探讨 APC 变异与行为和认知挑战之间的关联。我们的研究结果表明,与未受影响的兄弟姐妹相比,FAP 患者的社会反应量表(SRS)得分更高,表明自闭症特征的发生率更高(平均值为 53.8 vs. 47.4,Wilcoxon p = 0.018)。病例中 SRS 分数的分布呈现双峰模式,这可能与 APC 变异的位置有关,分数从基因的 5' 端向 3' 端递增(Pearson's r = 0.33,p = 0.022)。虽然我们观察到病例的教育程度有降低的趋势,但这种差异在统计学上并不显著。这项研究首次探讨了 APC 变异位置与 FAP 神经发育特征之间的联系,拓展了我们对基因型与表型相关性的理解。我们的研究结果强调了对 FAP 患者自闭症特征进行临床评估的重要性,并揭示了 APC 基因变异在这些行为和认知挑战中的潜在作用。
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来源期刊
CiteScore
5.90
自引率
7.10%
发文量
40
审稿时长
4-8 weeks
期刊介绍: Neuropsychiatric Genetics, Part B of the American Journal of Medical Genetics (AJMG) , provides a forum for experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. It is a resource for novel genetics studies of the heritable nature of psychiatric and other nervous system disorders, characterized at the molecular, cellular or behavior levels. Neuropsychiatric Genetics publishes eight times per year.
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