Beyond assumptions: Revisiting the link between consanguinity and pediatric neurodevelopmental disorders

Abstract

Parental consanguinity is associated with an increased risk of autosomal recessive disorders, some of which may present neurological and developmental impairment. In this issue, a retrospective cohort study from Jazan, Saudi Arabia, by Alhamoud et al, published in the World Journal of Clinical Pediatrics”, evaluated the relationship between consanguinity and neurodevelopmental outcomes in pediatric patients and found no statistically significant association despite minor differences in clinical patterns. This finding highlights the challenges of detecting genetic effects within heterogeneous clinical populations, particularly when neurodevelopmental conditions include both monogenic and multifactorial etiologies. This editorial contextualizes these results within current genetic and epidemiological understanding, emphasizing that cohort-level findings may not fully capture underlying biological risk. It also outlines key clinical and public health considerations, including targeted developmental screening and culturally appropriate genetic counseling, and underscores the need for well-designed prospective studies incorporating genomic data and precise phenotyping.

Keywords: Consanguinity; Neurodevelopmental disorders; Epilepsy; Genetic counseling; Autosomal recessive diseases; Pediatric neurology; Gene-environment interaction; Saudi Arabia; Middle East

Core Tip: This editorial interprets a recent cohort study reporting no clear association between consanguinity and neurodevelopmental disorders by highlighting the distinction between monogenic and multifactorial conditions and the impact of cohort heterogeneity on the detectability of risk. It emphasizes the importance of risk-stratified clinical approaches, including early developmental screening and culturally sensitive genetic counseling, and calls for prospective, genomically informed research to clarify disease-specific associations.