1. Burden of congenital and hereditary anomalies and their epidemiological attributes in the pediatric and adult population of Peshawar valley, Pakistan.
- Author
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Naqvi, Syeda Farwa, Ameena, Umi, Qazi, Waheed Uddin, Ahmad, Salman, Iqbal, Anjum, and Malik, Sajid
- Subjects
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CONGENITAL disorders , *HUMAN abnormalities , *NEUROLOGICAL disorders , *PUBLIC spaces , *CEREBRAL palsy - Abstract
Objectives: To elucidate the burden and clinico-epidemiological attributes of congenital and hereditary anomalies (CA) in the extended Peshawar Valley of Pakistan. Method: This is a multicenter cross sectional study carried out in Buner, Charsadda, Mardan, Nowshera, Peshawar and Swabi districts, during 2017-2021. The pediatric and adult patients with CA were recruited from hospitals, public places and through door-to-door surveys. The anomalies were classified with the help of specialized clinicians. Descriptive statistics was employed. Results: In this study, 1065 independent subjects with certain types of CA from independent households were included. The index males were 71%; the majority of subjects originated from rural areas (72%), and spoke Pashto (96%). The CA were categorized into 10 major and at least 104 minor categories. There was highest representation of neurological disorders, n=375 (proportion.: 0.352; 95% CI: 0.323-0.381), followed by limb defects (n=281; prop.: 0.264), sensorineural defects (n=128; prop.: 0.120), musculoskeletal defects (n=84; prop.: 0.079), visual impairments (n=67; prop.: 0.063), hemoglobinopathies (n=40; prop.: 0.038), ectodermal disorders (n=34; prop.: 0.032), cardiovascular anomalies (n=19; prop.: 0.018), and orofacial anomalies (n=19; prop). Among the neurological disorder, intellectual disabilities and cerebral palsy were highly prevalent. The majority of the cases had a sporadic presentation (68%), and isolated occurrence (72%), whereas parental consanguinity was witnessed in 58% of cases. Conclusion: A wide range of CA were witnessed in this cohort with a preponderance of neurological disorders. The majority of the anomalies are of severe nature rendering a high morbidity burden in the population and requiring early detection, intervention and management. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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