Siddiqui Ayat, Ladak Laila Akbar, Kazi Abdul Momin, Kaleem Sidra, Akbar Fizza, Kirmani Salman
Department of Pediatrics, Aga Khan University Hospital, Karachi, Pakistan.
Faculty of Medicine and Health, Susan Wakil School of Nursing and Midwifery, Sydney Nursing School, The University of Sydney, Sydney, Australia.
JMIR Res Protoc. 2021 Jun 3;10(6):e24901. doi: 10.2196/24901.
Down 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.
This study aims to assess the HRQOL, long-term survival, and morbidity of individuals with Down syndrome by using a web-based collaborative registry.
The 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.
The 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).
This 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.
唐氏综合征是最常见的染色体疾病，全球活产儿发病率为1/700。然而，这些个体及其家庭的真实患病率、相关发病率和健康相关生活质量（HRQOL）并未得到充分记录，尤其是在巴基斯坦等低收入和中等收入国家。需要以协作登记册的形式进行疾病特异性记录，以更好地了解这种疾病及其相关健康结果。本方案文件描述了为巴基斯坦队列开发首个基于网络的唐氏综合征综合协作登记册的目标和流程。
本研究旨在通过基于网络的协作登记册评估唐氏综合征患者的健康相关生活质量、长期生存率和发病率。
登记册数据收集将在阿迦汗大学医院和卡拉奇唐氏综合征项目进行。数据将通过面对面访谈或通过电话或视频访谈以虚拟方式收集。将招募任何年龄和性别的唐氏综合征（21三体）患者。在获得知情同意和同意后，将发放一系列基于平板电脑的问卷。这些问卷旨在评估参与者及其家庭的社会人口背景、临床状况和健康相关生活质量。数据将上传到安全的云服务器，以便临床医生实时访问参与者的回答，从而计划及时的干预措施。将使用多层加密和唯一编码的患者标识符来维护患者安全和保密性。收集到的数据将使用IBM SPSS Statistics for Windows，版本22.0（IBM公司）进行分析，报告连续变量的均值和标准差。分类变量将进行分析，并报告其百分比，P值临界值为0.05。将进行多变量回归分析，以确定与唐氏综合征患者健康相关生活质量相关的预测因素。生存分析将使用Kaplan-Meier生存曲线进行报告。
基于网络的问卷目前正在试点测试开始前定稿。该项目目前尚未获得资金（伦理审查委员会批准参考编号：2020-3582-11145）。
该登记册将有助于全面了解低收入和中等收入国家的唐氏综合征情况。这可以为基于数据的干预措施提供机会，这些措施是根据该患者群体及其家庭的特定需求量身定制的。尽管这个基于网络的登记册是一个概念验证，但它有潜力扩展到国家、区域和国际层面。
国际注册报告标识符（IRRID）：PRR1-10.2196/24901。
