BACKGROUND
Down Syndrome(DS) 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 is not well documented, especially in low-middle income countries(LMIC) like Pakistan. In order to better understand this condition and the associated health outcomes, a disease -specific documentation in the form of a collaborative registry is required. This protocol paper describes the aims and processes to develop the first comprehensive web-based collaborative registry for DS in a Pakistani cohort.
OBJECTIVE
To identify long term survival, morbidity and health-related quality of life in individuals patients with DS, using a web based collaborative registry.
METHODS
The registry data collection will be conducted at the Aga Khan University Hospital (AKUH) and at the Karachi DS Program (KDSP). Data will be collected by in-person interview, and virtually via telephone call or video interview. Participants of any age and gender with DS (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 socio-demographic background, clinical status and the HRQOL of the participants. Data will be collected and analyzed, with the mean and standard deviation of continuous variables and percentages for the categorical variables will be reported. A multivariate regression analysis will be conducted to identify predictors related to HRQOL in DS.
RESULTS
This registry is a proof-of-concept study, with results being published soon after commencement.
CONCLUSIONS
This registry will allow a comprehensive understanding of DS in a LMIC. This can provide the opportunity for data-informed interventions in tailored to the specific needs of this patient population and their families. Though this web- based registry is a proof of concept, it has the potential to be expanded to the national, regional and international level.
Down Syndrome in Pakistan (DSPak): a web-based collaborative registry assessing health-related quality of life, morbidity, and survival status - a study-protocol (Preprint)
