Down Syndrome Program

Important Guidance from the American Academy of Pediatrics Regarding Obstructive Sleep Apnea & Related Study at the Down Syndrome Program

The American Academy of Pediatrics now recommends that all people with Down syndrome have at least one sleep study to screen for obstructive sleep apnea (OSA). If your child has not yet had a sleep study, our doctors will be recommending one during your upcoming clinic visit. In light of that, you may be interested in participating in a new OSA research project in coordination with this appointment. Participation in this research project is optional and will in no way change the clinical care that you receive from our clinic.

Obstructive sleep apnea or OSA is highly prevalent in children and young adults with Down syndrome. Defined as the partial or complete blockage of airflow while sleeping, OSA is associated with a wide range of medical complications, if left untreated. The current method for diagnosing OSA is an overnight sleep study, called a polysomnogram. While noninvasive and highly accurate, sleep studies can be uncomfortable, costly, and inconvenient for both the patient and their family. We would like to change that. So, in conjunction with the Down syndrome program, we are conducting a study to help develop a screening tool that is comfortable, practical, and most importantly, effective for diagnosing OSA in individuals with Down syndrome. Right now, we are inviting all children with Down syndrome ages 3-18, to participate. All participants must be patients who already have a scheduled visit in our Program. As part of the study, all participants will be evaluated for OSA. If you, or someone you know would be interested in learning more, please contact Lauren Voelz  for more information.

Opportunity to Participate in the New National Down Syndrome Registry

All current patients in the Down Syndrome Program at Boston Children's Hospital are invited to participate in a project to build a national registry to track the health and medical history of people with Down syndrome across their lives.  Health information will be collected from existing and future medical records, so there are no extra study visits or procedures.  This Longitudinal Down Syndrome Study (LDSS) is taking place at Boston Children's Hospital, as well as other centers specializing in Down syndrome clinical care and research.  For more information, please contact Lauren Voelz.

The Gene Partnership is being created to study childhood health and development at Children’s Hospital Boston.  As we do not know what genetic and environmental factors are important in the health and development of children, we are setting up a single medical data bank that researchers can use to carry out a variety of studies on different health conditions.  The data bank will include genetic information and medical history information for patients and their family members and families can choose to be informed of study findings. All families are welcome to enroll, including adoptive families. The Gene Partnership is separate from the National Down Syndrome Registry Project and is not specific to patients with Down syndrome, but will be used to study a variety of different health conditions in children. Participation takes approximately 30 minutes and does not require any follow up appointments. If you are interested in participating or have any questions about the Gene Partnership, please feel free to contact our staff toll free at: 1-877-208-5151 or by email.