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      Assessing Health-Related Quality of Life, Morbidity, and Survival Status for Individuals With Down Syndrome in Pakistan (DS-Pak): Protocol for a Web-Based Collaborative Registry


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          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)


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          Most cited references30

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          Health supervision for children with Down syndrome.

          These guidelines are designed to assist the pediatrician in caring for the child in whom a diagnosis of Down syndrome has been confirmed by chromosome analysis. Although a pediatrician's initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given a prenatal diagnosis of Down syndrome will be referred for review of the condition and the genetic counseling provided. Therefore, this report offers guidance for this situation as well.
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            The PedsQL as a pediatric patient-reported outcome: reliability and validity of the PedsQL Measurement Model in 25,000 children.

            The PedsQL Measurement Model was designed as a modular approach to measuring pediatric health-related quality of life, and developed to integrate the relative merits of generic and disease-specific approaches. The PedsQL 4.0 Generic Core Scales have been translated into over 60 languages, with published data on over 25,000 children and adolescents in more than 75 peer-reviewed journals since 2001 for healthy children and numerous pediatric chronic health conditions. The PedsQL Disease and Condition-Specific Modules were designed to measure health-related quality-of-life dimensions specifically tailored for pediatric chronic health conditions, and include the PedsQL Asthma, Arthritis/Rheumatology, Cancer, Diabetes, Cardiac and Cerebral Palsy Modules, as well as the generic PedsQL Multidimensional Fatigue Scale, Pediatric Pain Questionnaire, Family Impact Module and Healthcare Satisfaction Module. The PedsQL has demonstrated reliability, validity, sensitivity and responsiveness for child self report for ages 5-18 years and parent proxy report for ages 2-18 years. The PedsQL has been shown to be related to other key constructs in pediatric healthcare such as access to needed care, healthcare barriers and quality of primary care. Future advances in the PedsQL() Measurement Model include web-based electronic administration (ePedsQL), integration into the electronic medical record, further efficacy and effectiveness outcome trials, including PedsQL ResourceConnect(SM) and PedsQL TIPS(SM), the development of the generic PedsQL Infant Scales for ages birth to 24 months and disease and condition-specific modules for other pediatric chronic health conditions.
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              Cognitive deficits and associated neurological complications in individuals with Down's syndrome.

              Improvements in medical interventions for people with Down's syndrome have led to a substantial increase in their longevity. Diagnosis and treatment of neurological complications are important in maintaining optimal cognitive functioning. The cognitive phenotype in Down's syndrome is characterised by impairments in morphosyntax, verbal short-term memory, and explicit long-term memory. However, visuospatial short-term memory, associative learning, and implicit long-term memory functions are preserved. Seizures are associated with cognitive decline and seem to cause additional decline in cognitive functioning, particularly in people with Down's syndrome and comorbid disorders such as autism. Vision and hearing disorders as well as hypothyroidism can negatively impact cognitive functioning in people with Down's syndrome. Dementia that resembles Alzheimer's disease is common in adults with Down's syndrome. Early-onset dementia in adults with Down's syndrome does not seem to be associated with atherosclerotic complications. Copyright 2010 Elsevier Ltd. All rights reserved.

                Author and article information

                JMIR Res Protoc
                JMIR Res Protoc
                JMIR Research Protocols
                JMIR Publications (Toronto, Canada )
                June 2021
                3 June 2021
                : 10
                : 6
                : e24901
                [1 ] Department of Pediatrics Aga Khan University Hospital Karachi Pakistan
                [2 ] Faculty of Medicine and Health Susan Wakil School of Nursing and Midwifery Sydney Nursing School, The University of Sydney Sydney Australia
                Author notes
                Corresponding Author: Laila Akbar Ladak laila.ladak@ 123456aku.edu
                Author information
                ©Ayat Siddiqui, Laila Akbar Ladak, Abdul Momin Kazi, Sidra Kaleem, Fizza Akbar, Salman Kirmani. Originally published in JMIR Research Protocols (https://www.researchprotocols.org), 03.06.2021.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License ( https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work, first published in JMIR Research Protocols, is properly cited. The complete bibliographic information, a link to the original publication on https://www.researchprotocols.org, as well as this copyright and license information must be included.

                : 9 October 2020
                : 25 November 2020
                : 9 February 2021
                : 9 March 2021

                down syndrome,registry,web-based registry,health-related quality of life,lower-middle income country,mobile health,patient-reported outcome


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