Proportion, factors hindering, and experiences regarding cardiac screening in children with Down syndrome at Mulago National Referral Hospital: a cross-sectional multimethod study

Down syndrome (DS) is the leading chromosomal abnormality globally and contributes to 10% of all congenital heart diseases. Approximately half of the children with DS present with congenital heart diseases (CHD) and are prone to the early development of pulmonary hypertension, leading to increased morbidity and mortality. This study aimed to evaluate cardiac screening practices and experiences for children with DS at Mulago National Referral Hospital (MNRH), Uganda. A cross-sectional multimethod study was conducted among children below 3 years with DS and their caretakers at four pediatric wards and outpatient clinics at MNRH. A research assistant-administered questionnaire was used to document participants’ demographics, history of cardiac screening, and outcomes of echocardiography and chest radiography. Key-informant and in-depth Interviews were conducted with healthcare providers and caretakers of children with DS, respectively, to explore their knowledge, practices, and barriers related to cardiac screening. Quantitative data were analyzed in STATA 15, while qualitative data were thematically analyzed using Atlas ti. A total of 61 children were recruited over 22 months, of which 31 (50.5%) were female. The mean age was 5.9 months (SD: 2.2), however, only 47 (77.1%) had undergone echocardiography, suggesting delays in early cardiac screening. The prevalence of CHD was 97.9%. The most common defects were patent-ductus arteriosus (PDA) (59.6%) and atrioventricular septal defect (36.2%). Only 12 (19.7%) children had undergone chest radiography, most frequently showing cardiomegaly (26.7%) and heterogeneous opacities (20%). Financial constraints were the main barrier to echocardiography (71.4%), while lack of healthcare worker requests limited chest radiography (77.1%). Parents and healthcare providers emphasized the importance of cardiac screening for early detection and management of cardiac defects. They recommended subsidizing or waiving screening fees and providing counselling to caretakers prior to screening to improve access. Nearly eight in ten children with DS at MNRH underwent echocardiography, revealing CHD in 97.9%, with PDA being the most common. Although the importance of cardiac screening was recognized, financial barriers and lack of imaging requests limited access. Strengthening access to routine early cardiac screening is essential to improve quality of care for children with Down syndrome in this setting.