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Environmental factors and polygenic risk score for psychiatric and neurodevelopmental disorders in children with dyslexia

عوامل محیطی و امتیاز ریسک چندژنی برای اختلالات روان‌پزشکی و عصبی‌رشدی در کودکان مبتلا به نارساخوانی

Haoxue Wang, Hong Fan, Rundong Liu, Kaiheng Zhu, Zhen Xiang, Shuai Zhao, Qianhui Chen, Jiao Zhang, Tianchun Wang, 梁希 Liang Xi, Ranran Song

Translational Psychiatry 2026
https://doi.org/10.1038/s41398-026-04429-0

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چکیده

Developmental dyslexia (DD) impacts learning achievement and psychosocial development and is associated with various environmental factors and also genetic factors. Here, we conducted a multi-center case-control study by screening 29,820 primary school students between 2–6 grades in four cities in China and enrolled 948 dyslexia cases who meet the criteria of dyslexia and 948 controls with matching age and sex. We comprehensively investigated the environmental factors using the eXtreme Gradient Boosting (XGBoost) machine learning model and Shapley additive explanations (SHAP) algorithm. The most important risk factors in dyslexia are the proactive learning habit, the age of child’s literacy, maternal education level, out-migrant workers, and prolonged screen exposure during pregnancy. The home literacy environment accounted for most of the variance within both groups. Then we examined shared polygenic risks between DD, attention deficit hyperactivity disorder, autism spectrum disorders, schizophrenia, major depressive disorder, and bipolar disorder using polygenic risk score (PRS) analyses. The results showed that the highest PRS DD quartile had a 2.13-fold risk than the lowest quartile with risk factors adjusted (95% CI: 1.08, 4.18). The individuals with the highest PRS ASD quartile and PRS SCZ quartile (OR: 2.13; 95% CI: 1.14, 3.98 and OR: 2.41; 95% CI: 1.23, 4.72) were associated with increasing dyslexia risks. This study identified the importance of screening personalized environmental factors among dyslexia and highlighted the shared genetic architecture between dyslexia and other disorders. These findings offered novel insight into the etiology of dyslexia, contributing to the advancement of early prevention strategies.

چکیده به فارسی

نارساخوانی رشدی (DD) بر پیشرفت تحصیلی و رشد روانی‌اجتماعی تأثیر می‌گذارد و با عوامل محیطی گوناگون و همچنین عوامل ژنتیکی مرتبط است. در این پژوهش، یک مطالعه مورد-شاهدی چندمرکزی با غربالگری ۲۹٬۸۲۰ دانش‌آموز ابتدایی پایه دوم تا ششم در چهار شهر چین انجام شد و ۹۴۸ مورد نارساخوانی که معیارهای نارساخوانی را داشتند و ۹۴۸ فرد کنترل با تطبیق سن و جنسیت وارد مطالعه شدند. عوامل محیطی به طور جامع با استفاده از مدل یادگیری ماشین eXtreme Gradient Boosting (XGBoost) و الگوریتم Shapley additive explanations (SHAP) بررسی شد. مهم‌ترین عوامل خطر در نارساخوانی شامل عادت یادگیری فعال، سن سوادآموزی کودک، سطح تحصیلات مادر، کارگران مهاجر و مواجهه طولانی‌مدت با صفحه‌نمایش در دوران بارداری بودند. محیط سوادآموزی خانه بیشترین واریانس را در هر دو گروه توضیح داد. سپس ریسک‌های چندژنی مشترک بین DD، اختلال نقص توجه/بیش‌فعالی، اختلالات طیف اوتیسم، اسکیزوفرنی، اختلال افسردگی اساسی و اختلال دوقطبی با استفاده از تحلیل امتیاز ریسک چندژنی (PRS) بررسی شد. نتایج نشان داد که بالاترین چارک PRS DD نسبت به پایین‌ترین چارک، ۲٫۱۳ برابر ریسک بیشتری داشت (با تعدیل عوامل خطر؛ ۹۵٪ CI: ۱٫۰۸، ۴٫۱۸). افرادی که در بالاترین چارک PRS ASD و PRS SCZ قرار داشتند (OR: ۲٫۱۳؛ ۹۵٪ CI: ۱٫۱۴، ۳٫۹۸ و OR: ۲٫۴۱؛ ۹۵٪ CI: ۱٫۲۳، ۴٫۷۲) با افزایش ریسک نارساخوانی مرتبط بودند. این مطالعه اهمیت غربالگری عوامل محیطی شخصی‌سازی‌شده در نارساخوانی را شناسایی کرد و معماری ژنتیکی مشترک بین نارساخوانی و سایر اختلالات را برجسته ساخت. این یافته‌ها بینش جدیدی در زمینه اتیولوژی نارساخوانی ارائه داده و به پیشرفت راهبردهای پیشگیری زودهنگام کمک می‌کند.

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موضوع‌ها و کلیدواژه‌ها

اختلال دوقطبیاختلال نقص توجه/بیش‌فعالیاختلالات عصبی‌رشدیAutism spectrum disordersMental illnessattention deficit hyperactivity disorderdevelopmental dyslexiaenvironmental risk factorsgenetic overlapneurodevelopmental disorderspolygenic risk score

ارجاع

Wang, H., Fan, H., Liu, R., Zhu, K., Xiang, Z., Zhao, S., Chen, Q., Zhang, J., Wang, T., Xi, 梁. L., & Song, R. (2026). Environmental factors and polygenic risk score for psychiatric and neurodevelopmental disorders in children with dyslexia. Translational Psychiatry. https://doi.org/10.1038/s41398-026-04429-0

(Wang et al., 2026)

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قوانین پرسش و گفتگو
  1. با احترام و بدون توهین، تحقیر، برچسب‌زنی یا حمله‌ی شخصی با دیگران گفتگو کنید.
  2. از نوشتن هرگونه اطلاعات هویتی یا قابل‌شناسایی مراجعان، بیماران یا اشخاص ثالث، از جمله نام، شماره‌ی تماس، تصویر، نشانی، محل کار یا جزئیات منحصربه‌فرد پرونده خودداری کنید.
  3. اگر درباره‌ی یک تجربه‌ی بالینی سؤال می‌کنید، اطلاعات را تا حد ممکن بی‌نام و کلی بیان کنید تا امکان شناسایی فرد وجود نداشته باشد.
  4. این بخش برای یادگیری و گفت‌وگوی علمی است و جایگزین ارزیابی، تشخیص، مشاوره یا روان‌درمانی شخصی نیست.
  5. در شرایط بحران یا خطر آسیب به خود یا دیگران، به این بخش اتکا نکنید و برای دریافت کمک فوری با اورژانس اجتماعی ۱۲۳ یا صدای مشاور بهزیستی ۱۴۸۰ تماس بگیرید.
  6. انتشار تبلیغات، معرفی خدمات شخصی، شماره‌ی تلفن، شناسه‌ی شبکه‌های اجتماعی، پیوند تبلیغاتی یا درخواست جذب مراجع در این بخش مجاز نیست.
  7. در بیان ادعاهای علمی، به‌ویژه درباره‌ی اثربخشی درمان‌ها، تشخیص یا یافته‌های پژوهشی، تا حد امکان نام منبع معتبر، مقاله یا راهنمای علمی را ذکر کنید.
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  9. پاسخ‌هایی که کارشناسان فکر بنیان می‌دهند با برچسب «پاسخ فکر بنیان» یا «کارشناس فکر بنیان» نمایش داده می‌شوند و سایر نوشته‌ها بیانگر نظر کاربران هستند.
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چکیده

Abstract Child and adolescent externalizing problems have often been conceptualized broadly with imprecise language (e.g., “disruptive behavior”) or inconsistently across varying taxonomies (e.g., oppositional defiant and conduct disorder symptoms, aggressive and rule-breaking behaviors). Establishing clarity around dimensions of externalizing problems is an essential step toward more accurate measurement and construct validity across the externalizing domain. To that end, the current study investigated fine-grained dimensions in the structure of youth externalizing psychopathology. Caregiver-report survey data were collected for a national community sample of 576 youth (ages 6–14; 45% female, 25% Hispanic), including measures of irritability, oppositionality, reactive and proactive aggression, conduct problems, hyperactivity/impulsivity, and inattention. We used exploratory factor analysis (EFA) to examine relations among externalizing dimensions at the item-level followed by confirmatory factor analysis (CFA) to examine relations at the construct-level. EFA results suggested that a 3-factor model best fit the data, including factors characterized by externalizing affect (e.g., “felt mad”), externalizing behavior (e.g., “bullies, threatens, or intimidates others”), and ADHD symptoms (e.g., “talks excessively”), with a few cross-loadings. Similarly, confirmatory models indicated that a 3-factor, non-hierarchical structure fit the data best when compared to three other models. Results provide support for distinct facets of the externalizing spectrum in child psychopathology, suggesting a preliminary direction for a unifying framework. These findings highlight the potential for future measurement research to further disentangle the distinct and overlapping facets of externalizing constructs, particularly using multiple methods and informants and with replication across samples.

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Abstract We investigated public beliefs about the extent to which mental disorders are perceived to be part of the true self, that is, the set of traits and behaviors that compose one’s core character. We conducted three quantitative vignette-based studies (total n = 601) in UK general public samples, considering seven disorders (attention deficit hyperactivity disorder (ADHD), anorexia nervosa, autism spectrum disorder (ASD), bipolar disorder, major depressive disorder, schizophrenia, and obsessive-compulsive disorder (OCD)). For each disorder, participants rated how much the disorder reflects the vignette character’s true self, along with perceived causes of the disorders (studies 1 and 2), perceived severity, age of onset, duration, probability of recovery (study 2), and stigmatization (study 3). Disorders differed sharply in the extent to which they were judged to be part of the true self: ADHD, ASD, and OCD received higher true self ratings than major depressive disorder, anorexia nervosa, and schizophrenia, with bipolar disorder intermediate. A disorder was rated more ‘true self’ when it was: perceived as more “biologically” caused; less “psychologically” caused; less severe; and recovery was perceived as less likely. Although the extent of stigmatization also varied across disorders, true self ratings did not predict stigmatization. Our results show that the public thinks about different mental disorders in quite different ways, suggesting that different disorders should not be lumped together when considering attitudes and their consequences.

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چکیده

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چکیده

Abstract Suicidal thoughts and behaviours (STB) span ideation (SI), attempt (SA), and death (SD), yet the factors distinguishing ideation from attempt remain poorly understood. Genome-wide studies suggest shared yet partially distinct genetic liabilities. However, few analyses have tested the differential contributions of SI-, SA-, and SD-related genetic liability across STB phenotypes, particularly in high-risk mood-disorder populations. We analysed up to 17,622 participants from the Australian Genetics of Depression Study and the Australian Genetics of Bipolar Disorder study, jointly modelling polygenic scores (PGS) for SI, SA, and SD across mutually exclusive STB phenotypes using multinomial regression, alongside dimensional outcomes, age of onset, and the ideation-to-attempt transition. SI-PGS and SA-PGS showed independent and distinct associations: SI-PGS showed reduced odds of SI-only but increased odds of SI + SA, and SA-PGS robustly predicted attempt-related outcomes. Transition models captured the clearest clinical signal: SA-PGS predicted a 23% higher odds of attempt among ideators, with absolute risk differences of 9–12% between the top and bottom deciles—larger than those of the onset models (5–7%). Predictive discrimination improved incrementally (ΔAUC ≈ 0.02–0.03; ΔC ≈ 0.01). SD-PGS showed no robust effects. Sex-stratified analyses yielded broadly consistent findings across sexes. These findings support ideation-to-action models at the genetic level, demonstrating partially distinct polygenic liabilities for ideation and attempt. Although absolute predictive utility remains modest, these results indicate that PGS sharpen the stratification of ideators at risk of attempt, providing incremental value for future integrative risk models that combine genetics with mood disorders and environmental predictors.

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