Consanguinity: The innocent culprit in autism severity.

Q3 Medicine

Sultan Qaboos University Medical Journal Pub Date : 2025-05-02 eCollection Date: 2025-01-01 DOI:10.18295/squmj.10.2024.052

Watfa Al-Mamari, Ahmed B Idris, Najat Fadlallah, Saquib Jalees, Muna Al-Jabri, Halima Al-Shehhi, Maha Mohammed, Abeer Alsayegh

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Abstract

Objectives: This study aimed to investigate the relationship between consanguinity and the severity of autism spectrum disorder (ASD), a neurodevelopmental condition influenced by both genetic and environmental factors.

Methods: This retrospective study, conducted at the Genetic & Developmental Medicine Clinic at Sultan Qaboos University Hospital (SQUH), Muscat, Oman, examined the records of 139 children aged 1.5 to 14 years who were diagnosed with ASD between June 2011 and May 2024. The study analysed the correlation between consanguinity, homozygosity and ASD severity.

Results: Of the 139 cases evaluated, 74.1% were male, with an average age of diagnosis of 4.5 ± 2 years. Most ASD cases were classified at severity levels 2 (63.3%) and 3 (35.3%). Consanguinity was reported in 59% of the cases, with a mean homozygosity rate of 4.6%. No significant correlation was found between consanguinity or homozygosity rates and ASD severity.

Conclusions: No significant association was found between consanguinity or homozygosity rates and ASD severity. Further research is necessary to explore the genetic mechanisms underlying ASD in consanguineous populations.

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血缘关系：自闭症严重程度的无辜罪魁祸首。

目的：探讨亲属关系与自闭症谱系障碍（ASD）严重程度的关系，ASD是一种受遗传和环境因素影响的神经发育疾病。方法：这项回顾性研究在阿曼马斯喀特苏丹卡布斯大学医院遗传与发育医学诊所进行，检查了2011年6月至2024年5月期间被诊断为ASD的139名1.5至14岁儿童的记录。该研究分析了亲属关系、纯合性与ASD严重程度的关系。结果139例患者中男性占74.1%，平均诊断年龄为4.5±2岁。大多数ASD病例分为严重程度2级（63.3%）和3级（35.3%）。59%的病例报告有血缘关系，平均纯合率为4.6%。亲属或纯合子率与ASD严重程度无显著相关性。结论：血亲或纯合子率与ASD严重程度无显著相关性。有必要进一步研究近亲人群中ASD的遗传机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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