DS-Connect {TM}: The Down Syndrome Registry

Objective: The development of a patient registry for Down syndrome (DS) was identified as a
priority in the 2007 Down Syndrome Research Plan. Under the auspices of the Down Syndrome
Consortium, founded in 2011 as a public-private partnership between the NIH and DS advocacy
organizations, NICHD awarded a contract in 2012 to create a patient-focused online registry
to facilitate research participation by individuals with DS. Two advisory boards, composed of
advocates, family members, clinicians, researchers, and other relevant parties, have been
involved in the development of the registry materials.

Study Population: Individuals with DS (including those with mosaic DS and partial trisomy 21)

Design: DS-Connect (TM) is an online survey tool designed to collect demographic data and
health information from individuals with DS.

Outcome measures: The purposes of DS-Connect (TM) are:

1. To identify the various phenotypic manifestations of DS.

2. To identify individuals with DS who may be eligible for research studies or new clinical
trials, based on specific information about their diagnosis and health history.

- INCLUSION CRITERIA:

- Adults (at least 18 years of age) with a diagnosis of DS (including mosaic DS or
partial trisomy 21) who are capable of providing consent to participate, or for whom a
legally authorized representative (LAR) may give permission on behalf of the
individual to participate. Adults with DS who cannot consent for themselves but can
provide assent would need to provide assent to their LAR.

- Children (up to age 18 years of age) with a diagnosis of DS. Parents/guardians may
enter registry information and give permission to participate on behalf of their
child; if the child is over 7 years of age and able to provide assent, they must do
so. (Note: Once a child has reached age 18, he or she will be prompted to re-enroll
into the registry as an adult, if he/she is able to provide informed consent or with
the consent of his/her LAR if unable to re-enroll themselves.)

- Children with DS (between the ages of 7 and 18 years) will be asked to provide their
assent to register.

No individuals with DS will be excluded from taking part in DS-Connect based on age, race,

ethnicity, or gender.

EXCLUSION CRITERIA:

- A person who does not have a diagnosis of DS (or mosaic DS or partial trisomy 21)

- Adults with DS who are not capable of providing informed consent or assent to
participate and do not have a Legally Authorized Representative who can do so. In the
case where an adults with DS is able to provide assent but does not do so, that adult
will be excluded.

- A participant, parent, and/or LAR who cannot provide consent or does not read or
understand a language that is available for the registry, either English or Spanish.

- A child with DS (between the ages of 7 and 18 years) who is capable of providing
assent but does not do so.

- A child under the age of 18 years whose parents share joint custody and one parent
indicates that they do not consent to the child s participation.