Consanguinity: The innocent culprit in autism severity

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Pediatrics

Background:

• Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with known genetic and environmental influences.
• Consanguinity, the mating of related individuals, can increase the likelihood of inheriting recessive genetic disorders.
• Understanding genetic factors in ASD is crucial for diagnosis and intervention, particularly in populations with higher consanguinity rates.

Purpose of the Study:

• To investigate the potential relationship between consanguinity and homozygosity rates and the severity of autism spectrum disorder (ASD).
• To analyze genetic factors influencing ASD presentation in a cohort of Omani children.

Main Methods:

• A retrospective study analyzed records of 139 children diagnosed with ASD (aged 1.5-14 years) at Sultan Qaboos University Hospital, Oman.
• Data included consanguinity status, homozygosity rates, and ASD severity classification.
• Statistical analysis explored correlations between consanguinity, homozygosity, and ASD severity.

Main Results:

• The study included 139 children with ASD, 74.1% male, with a mean age of diagnosis of 4.5 ± 2 years.
• Most cases were classified as ASD severity levels 2 (63.3%) and 3 (35.3%).
• Consanguinity was reported in 59% of cases, with a mean homozygosity rate of 4.6%; no significant correlation was found with ASD severity.

Conclusions:

• No significant association was identified between consanguinity or homozygosity rates and the severity of autism spectrum disorder.
• Further research is warranted to explore the specific genetic mechanisms underlying ASD in consanguineous populations.