Związek między consanguinity rodziców a nasileniem autyzmu u dzieci emiryjskich: badanie przekrojowe
Association between parental consanguinity and autism severity in Emirati children: A cross-sectional study
W skrócie
[Preprint - wstępne wyniki] Badanie wykazało, że dzieci z emiryjskich rodzin, w których rodzice są spokrewnieni, wykazywały większe nasilenie autyzmu niż dzieci z rodzin bez tego związku. Naukowcy nie znaleźli jednak różnic w innych czynnikach takich jak płeć, historia chorób psychicznych czy choroby towarzyszące. Badacze podkreślają, że potrzebne są większe i bardziej szczegółowe badania, aby lepiej zrozumieć rolę genetyki w nasileniu autyzmu i udzielać lepszych porad genetycznych rodzinom.
Oryginalny abstract (angielski)
Abstract Introduction Autism spectrum disorder (ASD) is a neurodevelopmental condition influenced by genetic and environmental factors. Parental consanguinity may increase ASD risk via increased homozygosity. Method This cross-sectional study was conducted at Maudsley Health in Abu Dhabi, UAE, from September 2021 to February 2022. Thirty-one Emirati children (aged 3–12 years) with DSM-5 ASD diagnosis were divided by parental consanguinity (n = 10 yes; n = 21 no). Demographics, comorbidities, perinatal risks, and ASD severity (Childhood Autism Rating Scale [CARS]) were assessed. Results Children with consanguineous parents demonstrated higher CARS scores compared to those with non-consanguineous parents, CARS mean (SD): 37.2 (6.1) vs 32.2 (5.7); p = 0.035, indicating greater ASD severity in the consanguineous group. No significant differences were observed in gender distribution, family history of psychiatric illness, medical or psychiatric comorbidities, medication use, or perinatal and developmental risks. Most participants were male (64%), and 67.7% had a family history of psychiatric illness and exhibited speech delays. Conclusion The findings suggest that Consanguinity was associated with greater ASD severity (higher CARS scores) in this sample. Larger, adequately powered studies are necessary to clarify the role of homozygosity and to inform genetic counseling. Limitations include the small sample size (n = 31) and the potential for underreporting of comorbidities, such as epilepsy or allergies, as noted in the literature.