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Consanguinity: The innocent culprit in autism severity

Watfa Al-Mamari¹, Ahmed B Idris¹, Najat Fadlallah²

¹Departments of Child Health, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman.

Sultan Qaboos University Medical Journal

|July 14, 2025

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.

Keywords:

Autism Spectrum Disorder Consanguinity Homozygosity Severity

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