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BackgroundDown syndrome is the most common chromosomal disorder, with a global incidence of 1 in 700 live births. However, the true prevalence, associated morbidities, and health-related quality of life (HRQOL) of these individuals and their families are not well documented, especially in low- and middle-income countries such as Pakistan. Disease-specific documentation in the form of a collaborative registry is required to better understand this condition and the associated health outcomes. This protocol paper describes the aims and processes for developing the first comprehensive, web-based collaborative registry for Down syndrome in a Pakistani cohort. ObjectiveThis study aims to assess the HRQOL, long-term survival, and morbidity of individuals with Down syndrome by using a web-based collaborative registry. MethodsThe registry data collection will be conducted at the Aga Khan University Hospital and at the Karachi Down Syndrome Program. Data will be collected by in-person interviews or virtually via telephone or video interviews. Participants of any age and sex with Down syndrome (trisomy 21) will be recruited. After receiving informed consent and assent, a series of tablet-based questionnaires will be administered. The questionnaires aim to assess the sociodemographic background, clinical status, and HRQOL of the participants and their families. Data will be uploaded to a secure cloud server to allow for real-time access to participant responses by the clinicians to plan prompt interventions. Patient safety and confidentiality will be maintained by using multilayer encryption and unique coded patient identifiers. The collected data will be analyzed using IBM SPSS Statistics for Windows, Version 22.0 (IBM Corporation), with the mean and SD of continuous variables being reported. Categorical variables will be analyzed with their percentages being reported and with a P value cutoff of .05. Multivariate regression analysis will be conducted to identify predictors related to the HRQOL in patients with Down syndrome. Survival analysis will be reported using the Kaplan-Meier survival curves. ResultsThe web-based questionnaire is currently being finalized before the commencement of pilot testing. This project has not received funding at the moment (ethical review committee approval reference ID: 2020-3582-11145). ConclusionsThis registry will allow for a comprehensive understanding of Down syndrome in low- and middle-income countries. This can provide the opportunity for data-informed interventions, which are tailored to the specific needs of this patient population and their families. Although this web-based registry is a proof of concept, it has the potential to be expanded to national, regional, and international levels. International Registered Report Identifier (IRRID)PRR1-10.2196/24901

Objective: Inconsistencies have been reported in health-related quality of life (HRQOL) in postoperative congenital heart disease (CHD). Despite the need for lifelong care due for residual symptoms, only a few studies have explored cardiac-related HRQOL but none in lower middle-income countries (LMIC). This study therefore addresses the gap by exploring HRQOL and its associated predictors in postoperative CHD in Pakistan.Outcome Measures: General and cardiac-related HRQOL, associated predictors.Methods: This cross-sectional study recruited patients with CHD and age-matched healthy siblings as controls (n=129 each) at a single centre in Pakistan. Patients and their siblings completed HQROL surveys (PedsQL 4.0 Generic Core, PedsQL Cognitive Functioning). Patients only completed PedsQL 3.0 Cardiac module. Generalised linear models identified predictors.Results: The sample mean age was 8.84±3.87 years and 70% were below the poverty line for an LMIC. The majority (68%) had their first surgery after 1 year of age and were interviewed at a mean 4.08±1.91 years postoperatively.Patients with CHD had lower HRQOL in all domains compared with their age-matched siblings, with the biggest differences for total HRQOL (effect size, d=-1.35). Patients with complex CHD had lower HRQOL compared with simple to moderate CHDs in cardiac-related HRQOL. The lowest scores were for treatment problems (effect size, d=-0.91). HRQOL was worse for patients who were on cardiac medications, had complex CHD, longer cardiopulmonary bypass time, re-operations and were female.Conclusions: HRQOL issues persist in postoperative patients with CHD in LMIC, Pakistan. Solutions are needed to address poor HRQOL and lifelong concerns of patients and their parents. [ABSTRACT FROM AUTHOR]

Background: As survival improves in the congenital heart disease (CHD) population, health-related quality of life (HRQOL) outcomes become increasingly important. While surgery improves survival, poor HRQOL occurs postoperatively and cardiac-related HRQOL outcomes are rarely reported.Objective: To conduct a systematic review and meta-analyses of general and cardiac-related HRQOL in CHD surgical children and young adults.Method: Medline, CINAHL and EMBASE were searched. Quantitative designs with a minimum of 80% CHD surgical patients and mean age ≤18 years compared with healthy controls were included in the review. Data were analysed in RevMan V.5.3 using a random effects model.Outcome Measures: General and cardiac-related HRQOL.Results: Studies (n=20) were conducted in high-income countries and included 3808 patients plus 2951 parental reports of patients. HRQOL was worse in postoperative patients with CHD versus healthy controls in all domains with the largest difference seen for physical function (standard mean difference (SMD) of -0.56, 95% CI -0.82 to -0.30). Cardiac-related HRQOL was worse in complex compared with simple CHD with the largest SMD (-0.60, 95% CI -0.80 to -0.40) for symptoms. Heterogeneity ranged from 0% to 90%.Conclusions: CHD surgical patients have substantially worse HRQOL compared with age-matched healthy controls. Strategies should focus on improving HRQOL in this subgroup. Results may not be applicable to low/middle-income countries given the dearth of relevant research. [ABSTRACT FROM AUTHOR]

Introduction Reduced health-related quality of life (HRQOL) has been reported in postoperative patients with congenital heart disease (CHD). However, there is a paucity of data from low-income and middle-income countries (LMIC). Differences in sociodemographics and sociocultural contexts may influence HRQOL. This protocol paper describes a study exploring HRQOL in surgical patients with CHD from a tertiary hospital in Pakistan. The study findings will assist development of strategies to improve HRQOL in a resource-constrained context. Methods and analysis This prospective, concurrent triangulation, mixed-methods study aims to compare HRQOL of postsurgery patients with CHD with age-matched healthy siblings and to identify HRQOL predictors. A qualitative component aims to further understand HRQOL data by exploring the experiences related to CHD surgery for patients and parents. Participants include patients with CHD (a minimum of n~95) with at least 1-year postsurgery follow-up and no chromosomal abnormality, their parents and age-matched, healthy siblings. PedsQL 4.0 Generic Core Scales, PedsQL Cognitive Functioning Scale and PedsQL 3.0 Cardiac Module will measure HRQOL. Clinical/surgical data will be retrieved from patients' medical files. Student's t-test will be used to compare the difference in the means of HRQOL between CHD and siblings. Multiple regression will identify HRQOL predictors. A subsample of enrolled patients (n~20) and parents (n~20) from the quantitative arm will be engaged in semistructured qualitative interviews, which will be analysed using directed content analysis. Anticipated challenges include patient recruitment due to irregular follow-up compliance. Translation of data collection tools to the Urdu language and back-translation of interviews increases the study complexity. Ethics and dissemination Ethics approval has been obtained from The Aga Khan University, Pakistan (3737-Ped-ERC-15). Study findings will be published in peer-reviewed journals and presented at national and international conferences. [ABSTRACT FROM AUTHOR]