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The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome

This study has been completed.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier:
First received: April 30, 2009
Last updated: April 19, 2017
Last verified: January 13, 2016


  • Rett syndrome (RS) is a panethnic (affecting all ethnicities) neurodevelopmental (impairment of the growth and development of the brain) disorder affecting primarily females. RS is characterized by the loss of intellectual functioning, fine and gross motor skills, and communicative abilities after a period of seemingly normal development.
  • Caregivers of individuals with RS face many psychosocial challenges. The stressors can be grouped into the following six categories: emotional difficulties, health-related stressors, uncertainty about their daughter s illness, rejection by their social environment, lack of available or competent experts, and unfavorable comparison with healthy children.
  • Researchers are making a significant contribution to the adaptation literature with a focus on family functioning and to the little psychosocial research that exists on families with RS.
  • Researchers hope to narrow down the most important areas on which to focus for intervention strategies in families with RS.


  • To describe family functioning, perceived illness burden, self-efficacy, types of coping methods, and adaptation in caregivers of individuals with RS to examine the relationships between these variables and the outcomes of family functioning and adaptation.
  • To examine the extent to which appraisals of being a caregiver of an individual with RS and methods of coping are associated with family functioning.
  • To examine the extent to which appraisals of being a caregiver of an individual with RS, methods of coping, and family functioning are associated with caregiver adaptation.


- Eligibility is based on answering yes to the following three questions: Are you 18 years old or older? Are you the caregiver of a child diagnosed with Rett Syndrome? and Does the child with Rett Syndrome currently reside in your home with you?


  • Participants in this cross-sectional research design will answer a quantitative survey that includes some open-ended questions. The cross-sectional study involves a one-time self-administered questionnaire that takes approximately 20 to 30 minutes to complete.
  • The survey will be available in paper and electronic versions and includes demographics questions, measures of perceived illness burden, parental self-efficacy, coping methods, family functioning, and adaptation. Participants also will answer open-ended questions related to the individual s diagnosis.
  • Participants may withdraw from the study at any point up until submission of the survey and may skip any question.
  • Participants who experience psychological distress as a result of taking the survey are advised to contact the researcher. Study coordinators at the various clinics from which participants will be recruited will be notified of the possibility of adverse events and instructed to direct any members who experience distress to the appropriate professional services.
  • Participants will receive a small financial compensation for completing the survey.

Rett Syndrome

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 600
Study Start Date: April 24, 2009
Estimated Study Completion Date: January 13, 2016
Detailed Description:
This study aims to investigate the predictors of family functioning and adaptation in caregivers of individuals with Rett Syndrome (RS), a neurodevelopmental disorder affecting primarily females. After an apparently normal prenatal and postnatal period of development, individuals with RS lose intellectual functioning, fine and gross motor skills including purposeful hand use, and communicative abilities. Individuals with RS also experience a host of other medical problems including seizures and respiratory dysfunction. Prior research demonstrates that caregivers of individuals with RS experience more stress than normative samples and that family functioning plays a role in maternal mental health. However, there is much that is not understood about how cognitive appraisals (thoughts that assess the circumstances), coping methods, and family functioning are related to caregiver adaptation in this population. This study is based on Thompson and colleagues Transactional Stress and Coping Model which conceptualizes family functioning and adaptation to being a caregiver of an individual with RS. A cross-sectional research design using quantitative methodology will explore the relationships between perceived illness burden, self-efficacy, coping methods, family functioning and adaptation. In addition, an open-ended section will be included to qualitatively describe the role of family relationships on the caregivers perception of their ability to care for their child with RS. Caregivers of individuals with RS will be recruited through an international RS organization, a national RS educational meeting, and several national RS clinics. Eligible participants will be able to complete a paper or online version of the survey.

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • The study population will consist of men and women ages 18 or older who are the primary caregivers of a child with Rett Syndrome.
  • The parent may be a biological or adoptive parent or other primary caregiver and the child must reside with the primary caregiver.
  • Individuals of all ethnic, religious, socioeconomic, and educational backgrounds and from a variety of geographic locations in the United States will be included.


-Participants must be able to read and write in English, as it is essential for the researchers to be able to understand participants responses.

  Contacts and Locations
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Please refer to this study by its identifier: NCT00891956

United States, Alabama
University of Alabama
Birmingham, Alabama, United States
United States, Maryland
Kennedy Krieger Institute
Baltimore, Maryland, United States, 21205
United States, Texas
Baylor College of Medicine
Houston, Texas, United States, 77030
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: Barbara B Biesecker National Human Genome Research Institute (NHGRI)
  More Information

Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT00891956     History of Changes
Other Study ID Numbers: 999909132
Study First Received: April 30, 2009
Last Updated: April 19, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Rett Syndrome

Additional relevant MeSH terms:
Rett Syndrome
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System processed this record on May 22, 2017