Abstract
BACKGROUND: Pakistan is a multi-cultural country with different ethnic groups living in both rural and urban communities. There is a significant occurrence of congenital and hereditary neurodevelopmental disorder (NDD) contributing to mortality and morbidity rates. OBJECTIVES: This study aims to explore the prevalence, patterns, and phenotypic spectrum of NDD in district Lakki Marwat population of Khyber Pakhtunkhwa, Pakistan. METHODOLOGY: From 2022 to 2023, a cross-sectional study was conducted and subjects or families with NDD were recruited from district hospitals, rural and urban areas. Door to door survey was also carried out to collect appropriate data. The study gathered phenotypic and descriptive data, clinical information including age, gender, family history, consanguinity and bio-demographic features were recorded. RESULTS: A total of 276 independent cases/families with NDD were ascertained. The malformations were grouped into major and minor categories. Most of the case/families (58.69%) were sporadic, and 38.04% of the population was classified as having a low-income status. The most frequent family type was a single spouse with children (27.89%), while extended families made up 21.37% of all cases. Demographic variables such as parental consanguinity, syndromic/non-syndromic, familial/sporadic nature, economics status, age of disease onset and pedigree structures showed conspicuous heterogeneity among the major and minor categories of NDD. CONCLUSION: The high incidence of NDD indicates that nongenetic factors may play a vital role in their etiology which could be diminished by improving the healthcare system.