Jump to: Authorized Access | Attribution | Authorized Requests

Study Description

This research study will investigate sleep behavior in the rare neurological disorders Angelman Syndrome (AS), Rett Syndrome (RTT), Prader-Willi Syndrome (PWS) and Early-onset Morbid Obesity (EMO). Sleep is very important to proper health and plays a critical role in learning, memory, brain development and brain function. Sleep disturbances can have negative effects on health and the quality of life of children and their families. Sleep disorders are common in individuals with AS, RTT, PWS and EMO. As a result, individuals with AS, RTT, PWS and EMO are at risk for sleep-related health problems that can worsen existing daytime behaviors and lead to additional problems with learning and memory.

The principal objectives of the study are to:

  1. Characterize sleep behavior in individuals with Angelman Syndrome, Rett Syndrome, Prader-Willi Syndrome and Early-onset Morbid Obesity.
  2. Compare sleep behavior in these individuals with sleep behavior in normal controls
  3. Assess the natural history of sleep behavior in individuals with Angelman Syndrome, Rett Syndrome, Prader-Willi Syndrome and Early-onset Morbid Obesity

About this Study

This is a questionnaire study that will evaluate the sleep behavior of individuals with AS, RTT or PWS (participants), or unaffected siblings of individuals with AS, RTT or PWS (controls). Those participating in the study will already be registered with the Rare Disease Clinical Research Network (RDCRN) and have a confirmed diagnosis of AS, RTT or PWS or be an unaffected sibling. We will look at the medical records on file with the RDCRN to confirm diagnosis of AS, RTT or PWS. Study participants will participate in the study at their regularly scheduled RDCRN clinic visits. Participants will be asked to complete questionnaires at the study visits that will document their sleep behaviors.

The questionnaires are not difficult and participants should be able to complete them in approximately 15-30 minutes. Parents and legal guardians are allowed to assist participants or answer on their behalf. Questionnaires will be administered at the initial study visit and at a 12 month follow-up visit to document any changes in sleep behavior. We hope to enroll approximately 1400 individuals with either AS, RTT or PWS or their unaffected siblings.

  • Study Weblinks:
  • Study Design:
    • Case-Control
  • Study Type:
    • Case-Control
  • Number of study subjects that have individual-level data available through Authorized Access:
Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. The site also contains data dictionaries, variable summaries, documents, and truncated analyses, whenever available.

Study Inclusion/Exclusion Criteria

To be eligible to participate as a study subject, you must:

  • Be enrolled in a RDCRN consortium registry for either AS, RTT, PWS or EMO.
  • Have a clinical diagnosis of AS, RTT, PWS or EMO.
  • Be between 0 to19 years of age.
  • Be English-speaking (study questionnaires will only be available in English).

To be eligible to participate as a control subject, you must:

  • Have a sibling with either AS, RTT, PWS or EMO enrolled in the study.
  • Must not have a diagnosis of any neurological disorder.
  • Be between 0 to19 years of age.
  • Be English-speaking (study questionnaires will only be available in English).

Study History

♦ Study Activated 6/20/2011
♦ First Accrual 8/9/2011
♦ Last DSMB review June 30, 2015

Selected publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Genes
Links to Related Resources
Authorized Data Access Requests
Study Attribution
Feedback