血亲关系：.
Consanguinity: .
作者信息
Al-Mamari Watfa, Idris Ahmed B, Fadlallah Najat, Jalees Saquib, Al-Jabri Muna, Al-Shehhi Halima, Mohammed Maha, Alsayegh Abeer
机构信息
Departments of Child Health, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman.
Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
出版信息
Sultan Qaboos Univ Med J. 2025 May 2;25(1):114-121. doi: 10.18295/squmj.10.2024.052. eCollection 2025.
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.
目的
本研究旨在调查近亲结婚与自闭症谱系障碍（ASD）严重程度之间的关系，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（SQUH）的遗传与发育医学诊所进行，研究对象为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。该研究分析了近亲结婚、纯合性与ASD严重程度之间的相关性。
结果
在评估的139例病例中，74.1%为男性，平均诊断年龄为4.5±2岁。大多数ASD病例被归类为2级（63.3%）和3级（35.3%）。59%的病例报告有近亲结婚情况，平均纯合率为4.6%。未发现近亲结婚率或纯合率与ASD严重程度之间存在显著相关性。
结论
未发现近亲结婚率或纯合率与ASD严重程度之间存在显著关联。有必要进一步研究以探索近亲结婚人群中ASD的潜在遗传机制。
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