Prevalence of Down Syndrome and its Relationship with Maternal Age in Tehsil Kabal, District Swat, Pakistan
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Down Syndrome (DS) is the most common chromosomal disorder, with a well-established link to advanced maternal age. However, robust epidemiological data on DS is lacking in many regions of Pakistan. This study aimed to determine the prevalence of DS and its association with maternal age in Tehsil Kabal, Pakistan. A community-based cross-sectional survey was conducted from December 2021 to May 2022 across all 14 wards in Tehsil Kabal. Data was collected via door-to-door visits using a structured questionnaire. Verbal informed consent was obtained from all participants. The informed consent was acquired orally since the research was based on a low-risk survey and most of the participants belonged to groups with low signature practices. The project was approved by the faculty and the department that supervised the research. Suspected cases were identified based on standard phenotypic features. Out of an estimated population of 390,000 (excluding children under 4), 114 individuals with DS were identified, yielding a prevalence of 0.03% (approximately 1 in 3,400 live births or 3 per 10,000). A strong association with maternal age was found: 56% of affected children were born to mothers aged 31-40, 29% to mothers aged 21-30, and 15% to mothers aged 41-50. A significant male predominance was observed (78% male vs. 22% female). Nearly, half (47%) of the identified individuals were aged 11-20 years. The prevalence of DS in Tehsil Kabal was observed to be lower than global averages but confirmed maternal age as a significant risk factor. The high male-to-female ratio and low survival into adulthood highlighted potential sociocultural and healthcare factors affecting the DS population in this region, warranting further study.
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