An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You (DSC2U)

A Randomized, Controlled Trial of an Online Health Tool About Down Syndrome

The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines. The research plan was approved by the Partners Human Research Committee.

Study Overview

• Status: Completed
• Conditions: Down Syndrome
• Intervention / Treatment: Other: Down Syndrome Clinic to You (DSC2U)

Detailed Description

Background: The overwhelming majority of people with Down syndrome do not have access to specialty clinics, a disparity resulting in delayed or missed diagnoses and significant untreated co-morbidities. To meet this critical gap in needs, the investigators created "Down Syndrome Clinic to You" (DSC2U), a novel, web-based tool created for caregivers of individuals with Down syndrome, which generates personalized recommendations for the caregiver and the patient's primary care provider (PCP).

Methods: In a national, randomized controlled trial of 230 caregivers who had children or dependents with Down syndrome without access to a Down syndrome specialist, 117 were randomized to receive DSC2U and 113 to receive usual-care. The primary outcome was adherence to five health evaluations indicated by national guidelines for Down syndrome: celiac screen, sleep study, thyroid test, audiogram, and ophthalmology evaluation.

• Study Type: Interventional
• Enrollment (Actual): 281
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts General Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year and older (ADULT, OLDER_ADULT, CHILD)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

Description

Potential eligible participants were directed to the study website (www.dsc2u.org) for the eligibility screening questionnaire in English and Spanish and online consent. After selecting a language preference (English or Spanish), in addition to questions about the child's or dependent's biological sex, race and ethnicity, the eligibility screening questions included:

1. Do you have a child or dependent with DS?
2. Is your child or dependent 1 year or older?
3. When is your child's next annual well visit ("PCP visit")?
4. Does your child or dependent currently receive care at a DS specialty clinic? (If the child or dependent was actively followed in a DS specialty clinic, even one out of state. For example, a family from Arizona who travels to Texas each year for their child to be seen in a DS specialty clinic would be ineligible)

Inclusion Criteria:

• If you have a child or dependent with Down syndrome (DS)
• If your child or dependent is 1 year or older
• If your child or dependent is does not receive care at a DS specialty clinic

Exclusion Criteria:

• If your child or dependent does receive care at a DS specialty clinic
• If your child or dependent is under 1 year old
• If your child or dependent has a PCP that is already involved in the study

DS occurs naturally and proportionally in all races and ethnicities, so the study's population estimates were proportional to the racial/ethnic distribution of the U.S. population, as reported in the 2010 U.S. Census. To achieve commensurate representation in the study, the investigators applied a quota system in offering enrollment using the race and ethnicity of the individual with DS (not the caregiver).

The investigators' plan was to enroll participants such that there were: no more than 144 white individuals with DS, no fewer than 25 Hispanic or Latino/Latina individuals with DS, and no fewer than 20 black individuals with DS. The team also planned to enroll no more than 120 individuals with DS of one sex.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: HEALTH_SERVICES_RESEARCH
• Allocation: RANDOMIZED
• Interventional Model: PARALLEL
• Masking: NONE

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
EXPERIMENTAL: Intervention Group; The participants randomized to the intervention group completed the DSC2U questionnaire, and received online access to a personalized Caregiver Checklist and PCP plan. Caregivers were encouraged to share and discuss the PCP plan at their next wellness visit with the PCPs.	Other: Down Syndrome Clinic to You (DSC2U); DSC2U is a web-based tool for families to get up-to-date, personalized health and wellness information, based on national guidelines and expert consensus, for a person with Down syndrome.
NO_INTERVENTION: Control Group; The participants randomized to the control group, received usual care for 7 months, after their scheduled PCP appointment. They did not receive DSC2U during these 7 months, but did receive the online, personalized health assessment tool (DSC2U) at the end of the 7 months, after the primary and secondary outcomes were measured.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Participants With Indicated Evaluations That Were Completed or Recommended by the PCP	Adherence to the five health evaluations indicated by national guidelines for Down syndrome. The five health evaluations included: celiac screen, sleep study, thyroid test, audiogram, and ophthalmology evaluation.	7 months after the participant's scheduled PCP visit

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Questionnaire: Caregiver Experience With the Intervention	Measure the caregiver experience with the PCP using a 10-point Likert scale with "10" representing "most helpful" and "0" representing "least helpful." This questionnaire was only distributed to those in the Intervention arm because it assessed their experience with the Intervention itself.	2 weeks and 7 months after their scheduled PCP visit and with the intervention
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up	PedsQL 4.0 parent-proxy and PedsQL 2.0 Family Impact Module (https://www.pedsql.org/) were used to assess for qualify of life for people with Down syndrome and their caregivers. Here we report the change from baseline on the subdomains of these assessments. The subdomains on PedsQL 4.0 parent proxy were Psychosocial and Physical. The subdomains on the Family Impact Module (FIM) were Parental and Family scores. For both instruments we also report the total/summary scores. PedsQL scoring instructions were used. These are all scaled from 0 (Low) to 100 (High). Higher scores indicate a better quality of life. Baseline: (Mean±SD); Change: (Mean±SE)	Change from baseline at the 2-week follow-up time point
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up	PedsQL 4.0 parent-proxy and PedsQL 2.0 Family Impact Module (https://www.pedsql.org/) were used to assess for qualify of life for people with Down syndrome and their caregivers. Here we report the change from baseline on the subdomains of these assessments. The subdomains on PedsQL 4.0 parent proxy were Psychosocial and Physical. The subdomains on the Family Impact Module (FIM) were Parental and Family scores. For both instruments we also report the total/summary scores. PedsQL scoring instructions were used. These are all scaled from 0 (Low) to 100 (High). Higher scores indicate a better quality of life. Baseline: (Mean±SD); Change: (Mean±SE)	7-month follow-up survey
PCP Experience With the Intervention (Down Syndrome Clinic to You)	These measurements were gathered by self-administered mail survey to the PCPs who had patients participating in the Intervention Group. A total of 94 PCPs who had patients in the Intervention Arm responded to this question: "Did [name]'s caregiver give you a copy of the primary care plan before and/or during the wellness visit?" (Note: this survey was not mailed to the PCPs who had patients participating in the Control group as the survey was a measure of experience with the Intervention itself.)	2 weeks after the scheduled PCP visit

Collaborators and Investigators

• Sponsor: Massachusetts General Hospital
• Collaborators: Patient-Centered Outcomes Research Institute
• Investigators: Principal Investigator: Brian G Skotko, MD, MPP, Massachusetts General Hospital

Publications and helpful links

General Publications

• Chung J, Sarathy A, Hsieh YG, Estey G, Torres A, Patsiogiannis V, Donelan K, Skotko BG. Assessment of Stakeholder Engagement in a Down Syndrome Research Study. J Patient Cent Res Rev. 2021 Jan 19;8(1):64-67. doi: 10.17294/2330-0698.1777. eCollection 2021 Winter.
• Chung J, Donelan K, Macklin EA, Schwartz A, Elsharkawi I, Torres A, Hsieh YG, Parker H, Lorenz S, Patsiogiannis V, Santoro SL, Wylie M, Clarke L, Estey G, Baker S, Bauer PE, Bull M, Chicoine B, Cullen S, Frey-Vogel A, Gallagher M, Hasan R, Lamb A, Majewski L, Mast J, Riddell T, Sepucha K, Skavlem M, Skotko BG. A randomized controlled trial of an online health tool about Down syndrome. Genet Med. 2021 Jan;23(1):163-173. doi: 10.1038/s41436-020-00952-7. Epub 2020 Sep 3. Erratum In: Genet Med. 2020 Nov 9;:

Study record dates

Study Major Dates

• Study Start (ACTUAL): October 3, 2017
• Primary Completion (ACTUAL): May 15, 2019
• Study Completion (ACTUAL): May 15, 2019

Study Registration Dates

• First Submitted: January 7, 2020
• First Submitted That Met QC Criteria: January 9, 2020
• First Posted (ACTUAL): January 13, 2020

Study Record Updates

• Last Update Posted (ACTUAL): June 14, 2022
• Last Update Submitted That Met QC Criteria: March 10, 2022
• Last Verified: March 1, 2022

More Information

Terms related to this study

• Keywords: Audiogram; Sleep Study; Online Health Tool; Health evaluations; Celiac Screen; Thyroid Test; Ophthalmology evaluation; Healthcare outcomes survey; Experience survey
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Syndrome; Down Syndrome
• Other Study ID Numbers: 2017P000442.; (PCORI) AD-1507-31567 (OTHER_GRANT: Patient-Centered Outcomes Research Institute)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: The investigators will submit their complete data set to PCORI in accordance with their guidelines.
• IPD Sharing Time Frame: The investigators will submit to PCORI in accordance with their guidelines, and they will plan to post to their online registry.
• IPD Sharing Access Criteria: The study's data set will be accessed through PCORI. Please see further information on the process of accessing the data-set here: https://help.pcori.org/hc/en-us/sections/360000257660-Data-Management-and-Data-Sharing-Policy
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF; ANALYTIC_CODE; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No