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

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.

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.

Eligibility Criteria:
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.