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Virtual evidence-based healthcare for underserved patients with Down syndrome
Investigator (PI): Skotko, Brian
Performing Organization (PO): (Current): Massachusetts General Hospital for Children, Genetics Program / (617) 726-1561
Supporting Agency (SA): Patient-Centered Outcomes Research Institute (PCORI)
Initial Year: 2016
Final Year: 2020
Record Source/Award ID: PCORI/AD-1507-31567
Funding: Total Award Amount: $2,080,284
Award Type: Contract
Award Information: PCORI: More information and project results (when completed)
Abstract: Down syndrome (DS) is a rare, chronically debilitating genetic condition with varying levels of intellectual disability and medical conditions, such as hypothyroidism, celiac disease, obstructive sleep apnea, vision abnormalities, and hearing loss, that are common, preventable, and treatable. Approximately 58 DS specialty clinics have been formed in 32 states, and research has demonstrated that such multidisciplinary clinics incrementally improve healthcare for patients with DS when compared with standard primary care. And yet, fewer than 10 percent of patients with DS are up to date on treatment recommendations and options when they are not connected to a DS specialty clinic. With this proposal, we intend to leverage innovative technology, named "Down Syndrome Clinic to You," to reduce healthcare disparities that exist for underserved patients with DS. The prime focus of our project is to optimize healthcare outcomes for patients with DS. We will be assessing if and how Down Syndrome Clinic to You has an impact on their health. More specifically, we will be measuring adherence to five of the national healthcare guidelines: thyroid screening, celiac disease screening, sleep apnea testing, ophthalmology exams, and audiograms. Primary outcome measures will be based on reporting from parents/caregivers. National healthcare guidelines exist for people with Down Syndrome, but they are infrequently accessible to the overwhelming majority of patients who do not have access to DS-specialty related clinics. We will offer Down Syndrome Clinic to You as a direct-to-public, always-available, online service yielding comprehensive yet personalized recommendations for patients with DS who don't have access to specialty care. We intend to mitigate the compounding disparities of geographic location, race/ethnicity, and socioeconomic factors for the majority. We have established three working groups (WGs), 1) parents/caregivers of patients with DS; 2) primary care providers (PCPs) with at least one patient with DS in their panel with no access to a DS specialty clinic; and 3) an expert advisory panel comprising experts in DS care, survey design, and patient shared decision making. During the study planning phase, all three WGs were engaged to shape the study's framework and methodology. During all three years of the study, all WGs will be engaged to develop the content of the Caregiver Plan and PCP Letter. The Caregiver Plan is a personalized one- to two-page report with educational references, community resources, and healthcare recommendations for each parent's/caregiver's son or daughter. And the PCP Letter is a compact document. Additionally, all WGs will be engaged in disseminating study results.
MeSH Terms:
  • Caregivers
  • Child
  • Community Health Services
  • Decision Making
  • Down Syndrome /*therapy
  • Evidence-Based Medicine
  • Geography
  • Health Services Accessibility
  • Health Status Disparities
  • Healthcare Disparities
  • Humans
  • * Medically Underserved Area
  • Outcome Assessment, Health Care
  • Parents
  • Patient Compliance
  • Primary Health Care /organization & administration
  • Social Class
  • Technology
  • Telemedicine /*methods
  • United States
Country: United States
State: Massachusetts
Zip Code: 02114
UI: 20163014
CTgovId: NCT04227197
Project Status: Completed
Record History: ('2017: Project extended to 2020.',)