an online health tool about down syndrome: down syndrome clinic to you

Conditions: Down Syndrome

Summary: 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.

Keywords: online health tool health evaluations celiac screen sleep study thyroid test audiogram ophthalmology evaluation healthcare outcomes survey experience survey