# Developing a Down Syndrome Health Instrument

> **NIH NIH K23** · MASSACHUSETTS GENERAL HOSPITAL · 2020 · $172,554

## Abstract

Project Summary/Abstract
This proposal presents a five-year research career development program focused on the
development of a validated instrument to measure health status in Down syndrome (DS) to
expand the repertoire of measurements for future research including clinical trials. I am an
Instructor at Harvard Medical School and a clinical geneticist in the Division of Medical Genetics
and Metabolism at the Massachusetts General Hospital (MGH). The outlined proposal builds on
my previous research and clinical experience related to health surveillance in DS by integrating
the expertise of my primary mentor, Dr. Jonathan Winickoff, an expert in practice change, a
practicing pediatrician and experienced NIH-funded researcher, and additional mentoring team
members: Dr. Brian Skotko, an international DS expert, Dr. Melissa Constantine, an expert in
creating, designing and validating measurement instruments in the Division of Biostatistics,
Biostatical Design and Analysis Center at the University of Minnesota, and Dr. John Co, a
process improvement expert. The proposed research and training will position me with a unique
set of cross disciplinary skills that will enable me to transition to independence as a physician
scientist to study, measure, and improve the health of individuals with DS.
Although over 200,000 individuals with DS live in the United States, studies to date have
focused on outcomes apart from health. The foundation for this proposal is based on the need
to accurately measure health of all individuals – specifically, with DS – and the dearth of
available tools for this population. Creating such an instrument will provide a barometer of the
current state of health for DS and hold use in future research. In this project, I propose to create
an instrument that directly assesses health in DS – the Down syndrome Health Instrument
(DHI). More specifically, the aims of this proposal are: 1. To conduct focus groups among
caregivers, individuals with DS, panels of experts on DS and primary care physicians, and
cognitive interviews to refine a conceptual model of health for DS and create an item pool, 2. To
administer the DHI and establish internal validity, reliability, and external validity of the DHI for
use in clinical research, and 3. To test the usability of the DHI in two pilot settings: research and
clinical. This instrument will measure patient-reported health in DS for the first time and allow
measurement of health as an outcome which is not currently possible in this population. This
can identify gaps in care, then direct and optimize interventions that will improve care.

## Key facts

- **NIH application ID:** 9977443
- **Project number:** 1K23HD100568-01A1
- **Recipient organization:** MASSACHUSETTS GENERAL HOSPITAL
- **Principal Investigator:** Stephanie Lynn Santoro
- **Activity code:** K23 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $172,554
- **Award type:** 1
- **Project period:** 2020-04-03 → 2025-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9977443

## Citation

> US National Institutes of Health, RePORTER application 9977443, Developing a Down Syndrome Health Instrument (1K23HD100568-01A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9977443. Licensed CC0.

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