Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
Condition: Rett Syndrome; Prader-Willi Syndrome; Angelman Syndrome; Sleep Problems
MeSH terms: Prader-Willi Syndrome; Rett Syndrome; Dyssomnias; Parasomnias; Angelman Syndrome; Genetic Diseases, Inborn; Syndrome
Study type: Observational

Summary: 
      This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome
      or Prader-Willi Syndrome.

      The study will also investigate sleep behavior in healthy siblings of subjects with Angelman
      Syndrome, Rett Syndrome or Prader-Willi Syndrome. These individuals will serve as control
      subjects.

      The study will use questionnaires designed to identify sleep disorders and how they affect
      behavior and quality of life.

      The principal goals of this study are:

        1. To see how common sleep disorders are in individuals with Angelman Syndrome, Rett
           Syndrome or Prader-Willi Syndrome;

        2. To see how sleep disorders affect behavior in these individuals;

        3. To see whether sleep disorders and related behavior problems improve or worsen with age;

        4. To see how specific disease conditions relate to sleep disorders and how bad the sleep
           disorders are;

        5. To develop new treatment options to improve quality of life and behavior issues; and

        6. To evaluate current treatment options to improve sleep problems in these individuals.
    

Detailed description: 
      Subjects with AS, RTT or PWS and normal siblings (controls) will be recruited for study
      participation.

      Subjects will be recruited from the Rare Disease Clinical Research Network (RDCRN) consortium
      registries for AS, RTT and PWS. The RDCRN registries provide listings of individuals
      currently enrolled in the RDCRN along with clinical and genetic diagnosis, medical history
      and contact information.

      The RDCRN consortium sites for AS, RTT and PWS will participate in the study. These sites
      will recruit study participants, obtain informed consent and administer the sleep
      questionnaires. Institutional Review Board (IRB) approval will be obtained at each RDCRN
      consortium site.

      "Subjects" is defined as those children with a diagnosis of AS, PWS, and RTT. Subjects will
      be divided into separate study arms based upon their medical diagnosis. Study arms will
      consist of: 1) AS group, 2) PWS group, 3) RTT group, and 4) control group. "Control group" is
      defined as normal healthy siblings of subjects.

      Study participants and parents/guardians will be asked to complete the study questionnaires
      during the clinic visit. The questionnaires are brief and should not be difficult to
      complete. It is anticipated that the questionnaires can be completed in 15-30 minutes. If
      parents are unable to complete the questionnaires at the time of their scheduled clinic visit
      they will be asked to take the questionnaires home to complete and to mail them back to the
      research team. When the research team receives the returned questionnaires they will be
      reviewed for completion. If questions are skipped or left blank, a member of the research
      team will call the family to complete the missed questions over the phone.

      Parents/guardians are allowed to answer the questions on behalf of the study participants and
      will be asked to answer all the questions for each age-appropriate questionnaire in order for
      the responses to be scored correctly. Subjects with AS, RTT and PWS and normal siblings will
      complete the same questionnaire forms.

      Study participants will be administered the questionnaires again in 12-24 months at a
      follow-up RDCRN clinic visit or by mail to assess the natural history of their sleep behavior
      and any sleep disorders.

      Study participants identified as having a potential severe sleep disorder based on
      questionnaire responses will be contacted or sent a letter by the study investigators and
      advised to see a sleep specialist for further evaluation.

      Potential "Subjects" must be members of the RDCRN consortium registries with available
      contact and clinical diagnostic information on file. These individuals will be invited to
      participate in the study at their next regularly scheduled RDCRN visit.

      Study recruitment will continue for one year. Subjects with a clinical diagnosis of AS, RTT
      or PWS, or normal siblings of these individuals will be recruited for study participation.

      The sample size of study participants, including controls, will be based upon the number of
      individuals currently enrolled in the RDCRN consortium registries. Currently the combined
      number of individuals in the AS, RTT and PWS RDCRN consortium registries is 1082. The
      breakdown by disorder is: 678 RTT, 172 AS, 141 PWS. Final sample size will be the total
      number of subjects consented during the one year recruitment period. A projected enrollment
      total would be approximately 1,000 total individuals ( 500 subjects including 300 RTT, 100
      AS, 100 PWS & 500 controls).
    

Observational model: Case-Control
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        This research study will investigate sleep behavior in the rare neurological disorders
        Angelman Syndrome (AS), Rett Syndrome (RTT) and Prader-Willi Syndrome (PWS).
      
Keywords: Rett Syndrome; Prader-Willi Syndrome; Angelman Syndrome; Sleep Problems