Trial Outcomes & Findings for An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You (NCT NCT04227197)

Last Updated: 2022-06-14

Results Overview

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.

Recruitment status

COMPLETED

Study phase

Target enrollment

281 participants

Primary outcome timeframe

7 months after the participant's scheduled PCP visit

Results posted on

2022-06-14

Participant Flow

Participants were recruited through online social media postings from MassGeneral Hospital and Down syndrome (DS) non-profit organizations around the U.S. The recruitment period started on October 3, 2017 and end on September 30, 2018. Additional recruitment measures were implemented to enroll a demographically diverse sample. These included contacting minority working groups of DS organizations and translated all recruitment materials in Spanish.

We assessed 645 caregivers for eligibility through the study website, and 281 were consented. After consent, there were 51 consented caregivers who were excluded from the study prior to randomization because they did not complete the baseline survey, changed their primary care provider visit to a date outside of the study window, or self-withdrew. As such, 230 caregivers were randomized into assignment groups.

Participant milestones

Participant milestones
Measure	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. 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.	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.
Randomization STARTED	117	113
Randomization COMPLETED	115	113
Randomization NOT COMPLETED	2	0
Primary Care Provider (PCP) Visit STARTED	115	113
Primary Care Provider (PCP) Visit COMPLETED	113	113
Primary Care Provider (PCP) Visit NOT COMPLETED	2	0
2-week Follow-up Survey for Caregivers STARTED	113	113
2-week Follow-up Survey for Caregivers COMPLETED	101	108
2-week Follow-up Survey for Caregivers NOT COMPLETED	12	5
2-week Follow-up Survey for PCP's STARTED	114	113
2-week Follow-up Survey for PCP's COMPLETED	94	88
2-week Follow-up Survey for PCP's NOT COMPLETED	20	25
7-month Follow-up Survey for Caregivers STARTED	114	113
7-month Follow-up Survey for Caregivers COMPLETED	103	110
7-month Follow-up Survey for Caregivers NOT COMPLETED	11	3

Reasons for withdrawal

Reasons for withdrawal
Measure	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. 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.	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.
Randomization Protocol Violation	1	0
Randomization Discontinued participation because uncomfortable sharing information	1	0
Primary Care Provider (PCP) Visit Did not complete PCP visit	2	0
2-week Follow-up Survey for Caregivers Not responsive	7	5
2-week Follow-up Survey for Caregivers Lost to Follow-up	5	0
2-week Follow-up Survey for PCP's Not responsive	20	25
7-month Follow-up Survey for Caregivers Lost to Follow-up	11	3

Baseline Characteristics

An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Intervention Group n=117 Participants 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. 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.	Control Group n=113 Participants 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.	Total n=230 Participants Total of all reporting groups
Age, Customized < 2 years	10 Participants n=5 Participants	8 Participants n=7 Participants	18 Participants n=5 Participants
Age, Customized 2 to 4 years	29 Participants n=5 Participants	28 Participants n=7 Participants	57 Participants n=5 Participants
Age, Customized 5 to 7 years	17 Participants n=5 Participants	16 Participants n=7 Participants	33 Participants n=5 Participants
Age, Customized 8 to 12 years	24 Participants n=5 Participants	24 Participants n=7 Participants	48 Participants n=5 Participants
Age, Customized 13 to 17 years	12 Participants n=5 Participants	11 Participants n=7 Participants	23 Participants n=5 Participants
Age, Customized 18 to 25 years	13 Participants n=5 Participants	11 Participants n=7 Participants	24 Participants n=5 Participants
Age, Customized 26 years or older	12 Participants n=5 Participants	15 Participants n=7 Participants	27 Participants n=5 Participants
Sex: Female, Male Female	54 Participants n=5 Participants	52 Participants n=7 Participants	106 Participants n=5 Participants
Sex: Female, Male Male	63 Participants n=5 Participants	61 Participants n=7 Participants	124 Participants n=5 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	15 Participants n=5 Participants	13 Participants n=7 Participants	28 Participants n=5 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	101 Participants n=5 Participants	98 Participants n=7 Participants	199 Participants n=5 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	1 Participants n=5 Participants	2 Participants n=7 Participants	3 Participants n=5 Participants
Race (NIH/OMB) American Indian or Alaska Native	1 Participants n=5 Participants	0 Participants n=7 Participants	1 Participants n=5 Participants
Race (NIH/OMB) Asian	3 Participants n=5 Participants	1 Participants n=7 Participants	4 Participants n=5 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	1 Participants n=5 Participants	0 Participants n=7 Participants	1 Participants n=5 Participants
Race (NIH/OMB) Black or African American	5 Participants n=5 Participants	7 Participants n=7 Participants	12 Participants n=5 Participants
Race (NIH/OMB) White	101 Participants n=5 Participants	100 Participants n=7 Participants	201 Participants n=5 Participants
Race (NIH/OMB) More than one race	5 Participants n=5 Participants	3 Participants n=7 Participants	8 Participants n=5 Participants
Race (NIH/OMB) Unknown or Not Reported	1 Participants n=5 Participants	2 Participants n=7 Participants	3 Participants n=5 Participants
Primary health care insurance Public (e.g. Medicaid)	32 Number of participants n=5 Participants	29 Number of participants n=7 Participants	61 Number of participants n=5 Participants
Primary health care insurance Private (e.g. Blue Cross)	84 Number of participants n=5 Participants	83 Number of participants n=7 Participants	167 Number of participants n=5 Participants
Primary health care insurance None (e.g. self-pay)	1 Number of participants n=5 Participants	1 Number of participants n=7 Participants	2 Number of participants n=5 Participants

PRIMARY outcome

Timeframe: 7 months after the participant's scheduled PCP visit

Population: People with Down syndrome

Outcome measures

Outcome measures
Measure	Intervention Group n=117 Participants 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. 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.	Control Group n=113 Participants 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.
Number of Participants With Indicated Evaluations That Were Completed or Recommended by the PCP 0 indicated evaluations recommend/complete	69 participants	79 participants
Number of Participants With Indicated Evaluations That Were Completed or Recommended by the PCP 1 indicated evaluations recommend/complete	36 participants	31 participants
Number of Participants With Indicated Evaluations That Were Completed or Recommended by the PCP 2 indicated evaluations recommend/complete	10 participants	3 participants
Number of Participants With Indicated Evaluations That Were Completed or Recommended by the PCP 3 indicated evaluations recommend/complete	2 participants	0 participants

SECONDARY outcome

Timeframe: 2 weeks and 7 months after their scheduled PCP visit and with the intervention

Population: Of note, the number of analyzed in 7-month follow-up differs from number of analyzed in 2-week follow-up because certain questions were included at the 2-week follow-up survey which were not included in the 7-month follow-up survey.

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.

Outcome measures

Outcome measures
Measure	Intervention Group n=101 Participants 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. 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.	Control Group n=103 Participants 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.
Questionnaire: Caregiver Experience With the Intervention Did you discuss the Caregiver Checklist or any of the recommendations with the [name]? · No	58 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Did you have any problems viewing, downloading, or printing the Caregiver Checklist? · No	91 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Did you have any problems viewing, downloading, or printing the Caregiver Checklist? · Yes, somewhat	5 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Did you have any problems viewing, downloading, or printing the Caregiver Checklist? · Yes, definitely	5 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Did the caregiver checklist explain the recommendations in a way that was easy for you to understand · No	3 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Did the caregiver checklist explain the recommendations in a way that was easy for you to understand · Yes, somewhat	11 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Did the caregiver checklist explain the recommendations in a way that was easy for you to understand · Yes, definitely	87 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Did you use the links to information that were included in the Caregiver Checklist? · No	24 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Did you use the links to information that were included in the Caregiver Checklist? · Yes, somewhat	39 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Did you use the links to information that were included in the Caregiver Checklist? · Yes, definitely	38 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Did you discuss the Caregiver Checklist or any of the recommendations with the [name]? · Yes, somewhat	19 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Did you discuss the Caregiver Checklist or any of the recommendations with the [name]? · Yes, definitely	24 Participants	0 Participants
Questionnaire: Caregiver Experience With the Intervention Would you recommend the Caregiver Checklist to another caregiver? · No	0 Participants	1 Participants
Questionnaire: Caregiver Experience With the Intervention Would you recommend the Caregiver Checklist to another caregiver? · Yes, somewhat	17 Participants	26 Participants
Questionnaire: Caregiver Experience With the Intervention Would you recommend the Caregiver Checklist to another caregiver? · Yes, definitely	84 Participants	76 Participants

SECONDARY outcome

Timeframe: Change from baseline at the 2-week follow-up time point

Population: participants

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)

Outcome measures

Outcome measures
Measure	Intervention Group n=117 Participants 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. 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.	Control Group n=113 Participants 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.
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up baseline score on PedsQL Psychosocial Health Score	69.8 score on a scale Standard Deviation 14.7	71.2 score on a scale Standard Deviation 13.3
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up Change from baseline at 2 weeks on PedsQL Psychosocial Health Score	-3.2 score on a scale Standard Deviation 1.0	-2.3 score on a scale Standard Deviation 0.9
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up baseline score on PedsQL Physical	63.4 score on a scale Standard Deviation 25.4	62.9 score on a scale Standard Deviation 28.6
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up change from baseline score at 2 weeks on PedsQL Physical Functioning Score	-0.2 score on a scale Standard Deviation 1.9	-0.8 score on a scale Standard Deviation 1.9
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up baseline score on PedsQL Total Scale	67.7 score on a scale Standard Deviation 13.6	68.4 score on a scale Standard Deviation 15.5
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up change from baseline score at 2 weeks on PedsQL Total Scale Score	-2.0 score on a scale Standard Deviation 1.1	-1.6 score on a scale Standard Deviation 1.0
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up baseline score for PedsQL FIM Parental	68.6 score on a scale Standard Deviation 18.2	67.4 score on a scale Standard Deviation 19.6
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up change in baseline score at 2 weeks on PedsQL FIM Parental HRQL Summary Score	-2.4 score on a scale Standard Deviation 1.3	-2.3 score on a scale Standard Deviation 1.2
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up baseline score on PedsQL FIM Family	66.2 score on a scale Standard Deviation 20.7	65.2 score on a scale Standard Deviation 24.6
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up change in baseline score at 2 weeks for PedsQL FIM Family Functioning Summary Score	-0.8 score on a scale Standard Deviation 1.5	-1.8 score on a scale Standard Deviation 1.5
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up baseline score for PedsQL FIM Total Scale Score	65.8 score on a scale Standard Deviation 17.6	64.9 score on a scale Standard Deviation 20.3
Quality of Life Outcomes for Person With Down Syndrome: 2-week Follow-up change in baseline score for PedsQL FIM Total Scale Score	-0.7 score on a scale Standard Deviation 1.1	-1.8 score on a scale Standard Deviation 1.1

SECONDARY outcome

Timeframe: 7-month follow-up survey

Population: Participants

Outcome measures

Outcome measures
Measure	Intervention Group n=117 Participants 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. 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.	Control Group n=113 Participants 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.
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up baseline for PedsQL	69.8 scores on scales Standard Deviation 14.7	71.2 scores on scales Standard Deviation 13.3
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up Change from baseline for PedsQL Psychosocial Health Score	-2.3 scores on scales Standard Deviation 1.1	0.4 scores on scales Standard Deviation 1.1
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up baseline for PedsQL Physical Functioning Score	63.4 scores on scales Standard Deviation 25.4	62.9 scores on scales Standard Deviation 28.6
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up Change from baseline for PedsQL Physical Functioning Score	6.0 scores on scales Standard Deviation 1.9	6.3 scores on scales Standard Deviation 2.5
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up baseline for PedsQL Total	67.7 scores on scales Standard Deviation 13.6	68.4 scores on scales Standard Deviation 15.5
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up Change from baseline for PedsQL Total Scale Score	0.6 scores on scales Standard Deviation 1.1	2.5 scores on scales Standard Deviation 1.1
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up baseline for PedsQL FIM Parental HRQL Summary Score	68.6 scores on scales Standard Deviation 18.2	67.4 scores on scales Standard Deviation 19.6
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up Change from baseline for PedsQL FIM Parental HRQL Summary Score	-4.0 scores on scales Standard Deviation 1.3	-1.2 scores on scales Standard Deviation 1.3
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up baseline for PedsQL FIM Family Functioning Summary Score	66.2 scores on scales Standard Deviation 20.7	65.2 scores on scales Standard Deviation 24.6
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up Change from baseline for PedsQL FIM Family Functioning Summary Score	-2.0 scores on scales Standard Deviation 1.4	0.3 scores on scales Standard Deviation 1.4
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up baseline for PedsQL FIM Total Scale Score	65.8 scores on scales Standard Deviation 17.6	64.9 scores on scales Standard Deviation 20.3
Quality of Life Outcomes for Person With Down Syndrome: 7-month Follow-up Change from baseline for PedsQL FIM Total Scale Score	-2.3 scores on scales Standard Deviation 1.1	-0.4 scores on scales Standard Deviation 1.1

SECONDARY outcome

Timeframe: 2 weeks after the scheduled PCP visit

Population: 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?"

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.)

Outcome measures

Outcome measures
Measure	Intervention Group n=94 Participants 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. 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.	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.
PCP Experience With the Intervention (Down Syndrome Clinic to You) No	55 Participants	—
PCP Experience With the Intervention (Down Syndrome Clinic to You) Yes, at the visit	25 Participants	—
PCP Experience With the Intervention (Down Syndrome Clinic to You) Yes, before the visit	11 Participants	—
PCP Experience With the Intervention (Down Syndrome Clinic to You) missing	3 Participants	—

Adverse Events

Intervention Group

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Control Group

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Brian G Skotko, MD, MPP, Principal Investigator

Massachusetts General Hospital

Phone: (617) 643-3196

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place