Patient case (clinical description): A 15-week-old infant brought to the clinic for the follow up. The infant has flat facies, small ears, a single palmar crease, and upward slanting eyes. He was born on 39th week to a 39-year-old woman who didn't have prenatal care. The medical record confirms the trisomy of chromosome 21 (Down syndrome). The infant is otherwise healthy.

Patient's own account: My newborn, who is only 15 weeks old, had one of his follow-up appointments. The doctor pointed out that my baby had a flat face, small ears, only one palm line, and small eyes. He was born on his 39th week, while I was 39. What a coincidence! To be honest, I did not go to the doctor during my pregnancy. The doctor diagnosed my baby with Down syndrome. Apart from that he's healthy.

Clinical trial: Down Syndrome Clinic to You

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.
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 1 Year old.


Eligibility (NLI label): Contradiction