Clinical Trial: Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions

Study Status: Terminated
Recruit Status: Terminated
Study Type: Observational

Official Title: Freeman-Sheldon Syndrome Quality of Life Study (FSS-QLS): Cross-sectional Study of Concomitant Disorder-Specific Contributors to Quality of Life and Clinical Outcome

Brief Summary:

Freeman-Sheldon syndrome (FSS) is a rare human neuromusculoskeletal disorder present before birth, involving primarily limb and craniofacial deformities.

The hypotheses in the present study of FSS and related conditions are: (1) FSS and related conditions are associated with higher rates of posttraumatic stress symptoms (PTSS), depression, and reduced quality of life than is observed in the general population; (2) persons close to an individual with FSS or related condition suffer similarly; and (3) current measures, which are single-disease specific (i.e., PTSS, depression, craniofacial deformities, or limb deformities), do not capture the unique picture of FSS and related conditions, which involve both limb and craniofacial deformities in an intellectually capable individual.

There have been no studies looking at quality of life associated with FSS. Some authors have looked at quality of life in persons with facial differences; other authors have looked at bone and joint problems. Many other authors have looked at PTSS and depression caused by health problems and bad medical experiences. No authors have looked at these problems when they happen together, as they do in FSS. Because of the above, there may be differences in patients that have FSS versus patients in previous quality of life studies. The study will also develop and validate an outcomes-based quality of life survey for FSS and related conditions.


Detailed Summary:

This study is a research project initiated by the graduate research student (Mikaela I. Poling) and assisted by the clinical genetics fellow and graduate student (Andrés Morales) in partial fulfilment the requirements for their Masters degrees in Clinical and Applied Physiology, under approval, direction, and supervision of the study PI (Rodger J. McCormick).

Mental Health and Congenital Deformities:

Apajasalo et al. (1998) found significantly decreased health-related quality of life versus controls among adults and youth ages with chondrodysplasias. Differences in adult scores were in the areas of mobility, usual activities, and sexual activity and discomfort. Youth scores differed more in school and hobbies and friends and physical appearance. Didierjean-Pillet (2002) stressed concern for aesthetics of reconstruction in consideration of psychiatric impacts of congenital deformities in psychosocial functioning. Nagata et al. (2008) found that 20% of mothers with children operated on for congenital disease were likely to have post-traumatic stress disorder (PTSD). They found that pro-active, effective participation in the child's care may alleviate PTSS. Vitale et al. (2005) found quality of life survey scores among clubfoot patients compatible with age-matched controls, in agreement with Roye (2001), and not correlated to radiograph appearance. They advised quality of life survey scores be primary endpoint in determining therapeutic outcome. Engell et al. (2007) found significant post-operative improvement in the Short Form-12 Health Survey physical component scale in congenital clubbed-foot patients in the Danish Twin Registry. Vitale et al. (2001) observed that tailored quality of life scales were required for paediatric orthopaedic populations. Hawkins and Radcliffe (2006) concluded there was a lack of appropriate
Sponsor: Freeman-Sheldon Research Group, Inc.

Current Primary Outcome: Situational Mental Health in Persons with FSS or Related Condition [ Time Frame: Evaluated during 1-2 study visits (lasting an average of 1-3 hours each) and in self-completed surveys, over an average of 2-4 years from enrolment ]

Increased frequency of mental health symptoms and diagnoses (PTSS, Depression, and reduced quality of life) over expected for general population


Original Primary Outcome: Situational Mental Health in Persons with FSS or Related Condition [ Time Frame: Evaluated during one study visit (lasting an average of 1-3 hours) and during three telephone interviews (lasting an average of 30 min to 1 hour), over an average of 2-4 years from enrolment ]

Increased frequency of mental health symptoms and diagnoses (PTSS, Depression, and reduced quality of life) over expected for general population


Current Secondary Outcome:

  • Situational Mental Health in Family and Others with a Close Relationship to a Person with FSS or Related Condition [ Time Frame: Evaluated during 1-2 study visits (lasting an average of 1-3 hours each) and in self-completed surveys, over an average of 2-4 years from enrolment ]
    Increased frequency of mental health symptoms and diagnoses (PTSS, Depression, and reduced quality of life) over expected for general population
  • Current Survey Correlation with Disorder-Specific Survey for FSS and Related Conditions [ Time Frame: Evaluated during 1-2 study visits (lasting an average of 1-3 hours each) and in self-completed surveys, over an average of 2-4 years from enrolment ]
    Ability of current surveys to capture full picture of quality of life for persons, families, and others affected by FSS and related conditions will be assessed to determine need for a disorder-specific survey and usefulness of existing surveys.


Original Secondary Outcome:

  • Situational Mental Health in Family and Others Close to a Person with FSS or Related Condition [ Time Frame: Evaluated during one study visit (lasting an average of 1-3 hours) and during three telephone interviews (lasting an average of 30 min to 1 hour), over an average of 2-4 years from enrolment ]
    Increased frequency of mental health symptoms and diagnoses (PTSS, Depression, and reduced quality of life) over expected for general population
  • Current Survey Correlation with Disorder-Specific Survey for FSS and Related Conditions [ Time Frame: Evaluated during one study visit (lasting an average of 1-3 hours) and during three telephone interviews (lasting an average of 30 min to 1 hour), over an average of 2-4 years from enrolment ]
    Ability of current surveys to capture full picture of quality of life for persons, families, and others affected by FSS and related conditions will be assessed to determine need for a disorder-specific survey and usefulness of existing surveys.


Information By: Freeman-Sheldon Research Group, Inc.

Dates:
Date Received: February 27, 2011
Date Started: February 2011
Date Completion:
Last Updated: April 2, 2017
Last Verified: April 2017