A Clinical Profile of Down Syndrome among Indian Children: A Single Centre Study

Abstract

Down syndrome (DS) is the most common chromosomal cause of intellectual disability. Though its clinical features are well described, there is a paucity of prospective, region-specific data from resource-limited settings in India. The primary objective of the study was to assess phenotypic variability and associated complications in children with DS. This is a prospective observational study conducted from August 2022 to May 2024 in a tertiary care centre in North India. All children aged <18 years diagnosed with DS by karyotyping were included. Their baseline clinical characteristics, phenotypic variability, associated complications and outcomes were recorded. A total of 149 patients with DS were assessed. The mean age of the patients was 34 months, with male predominance. The most common presenting feature was delay in motor milestones (46.31%), and the most common phenotypic feature included downs facies (87%). Congenital heart defects (CHD) were present in 46 patients (30.87%), with atrial septal defects comprising 26.17%. Other complications include developmental delay (64.43%), renal anomalies (3.35%), rickets (6.04%), celiac disease (2.01%) and hypothyroidism (2.68%). The management of children with DS is challenging because of multiple comorbidities. DS is most common syndrome in pediatric age group. Most common systemic dysfunction is cardiac dysfunction. It has numerous other co-morbidities which requires multispeciality care. Early intervention and timely diagnosis improves the outcome.