Hereditary Load and Socio-Demographic Determinants of Pediatric Neurodevelopmental Disorders: A Comparative Analysis of Risk Patterns in Pakistan

Abstract

The etiology of pediatric neurodevelopmental disorders (NDDs) is a complicated set of genetic, hereditary, and environmental factors. The high consanguinity and diverse socioeconomic settings in Pakistan produce a distinct epidemiological picture of NDDs, but there is limited comparative data on how such variables vary between distinct diagnostic groups. These are crucial determinants to consider in the sense of regional genetic counseling and resource allocation within the domain of the population health. The aim of the research was to investigate the socio-demographic variables and the hereditary load of four distinct groups of NDDs among a sample of Pakistani patients in a clinical cohort, which included Autism Spectrum Disorder (ASD), Cerebral Palsy (CP), Down Syndrome (DS), and Intellectual Developmental Disorder (IDD). The epidemiological cross-sectional design was applied and a sample of 80 children and adolescents (11-18 years old) was used. The participants were stratified into four diagnostic groups (n=20 each). Gender, socioeconomic status (SES), and a more detailed family history (consanguinity and hereditary clusters) data were gathered using structured clinical interview and medical record. Chi-square tests of independence and descriptive modeling were used to statistically analyze data to determine significant risk patterns. The correlation between family history and diagnostic category was found to be of a very high significance (p =.007) with the IDD group having the highest hereditary burden (100%) and ASD group having the lowest (60%). Gender differences were also significant with males being dominant in ASD and females dominant in IDD. Conversely, no significant differences were found between socioeconomic status and personal forms of NDDs (p = .690) suggesting that the disorders are distributed across the socioeconomic continuum in this cohort. The findings emphasize the power of genetics in Intellectual Developmental Disorders among Pakistani population which is likely to be related to local marriages arrangements. Even though SES does not appear to be a significant predictor of NDD type, the significant gender and heredity differences imply that there is a need to take certain public health actions. These results underpin the concept of enhanced genetic screening and culturally sensitive family counseling in order to minimize the NDDs burden in Pakistan.