Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions
| Status: | Recruiting |
|---|---|
| Conditions: | Depression, Neurology, Orthopedic, Psychiatric, Women's Studies |
| Therapuetic Areas: | Neurology, Psychiatry / Psychology, Orthopedics / Podiatry, Reproductive |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/2/2016 |
| Start Date: | February 2011 |
| Contact: | Mikaela I Poling, BA |
| Email: | poling_mi@fsrgroup.org |
| Phone: | 304-460-9038 |
Freeman-Sheldon Syndrome Quality of Life Study (FSS-QLS): Cross-sectional, Cohort Study of Concomitant Disorder-Specific Contributors to Quality of Life and Clinical Outcome
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.
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.
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 and validated PTSD measures for paediatric patients. Part of this
problem of lacking validated paediatric PTSD measures was likely do to non-comprehensive
Diagnostic and Statistical Manual of Mental Disorders IV Text-Revision criteria.
Relevance to Current Study:
Because FSS-related deformities were more comprehensive, treatment-resistant, and associated
with poorer clinical outcome, quality of life studies not including a subset of FSS patients
may not be appropriate in the more challenging clinical picture of FSS-related deformities.
In many conditions, disorder-specific quality of life measures (QLM) showed increased
sensitivity and specificity over general QLMs and were important therapeutic tools to assess
efficacy of and prioritise interventions. Results of disorder-specific QLMs were important
predictors of clinical outcome.
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 and validated PTSD measures for paediatric patients. Part of this
problem of lacking validated paediatric PTSD measures was likely do to non-comprehensive
Diagnostic and Statistical Manual of Mental Disorders IV Text-Revision criteria.
Relevance to Current Study:
Because FSS-related deformities were more comprehensive, treatment-resistant, and associated
with poorer clinical outcome, quality of life studies not including a subset of FSS patients
may not be appropriate in the more challenging clinical picture of FSS-related deformities.
In many conditions, disorder-specific quality of life measures (QLM) showed increased
sensitivity and specificity over general QLMs and were important therapeutic tools to assess
efficacy of and prioritise interventions. Results of disorder-specific QLMs were important
predictors of clinical outcome.
Inclusion Criteria:
- Freeman-Sheldon syndrome,
- Sheldon-Hall syndrome,
- Distal arthrogryposis type 1, or
- distal arthrogryposis type 3
- Deceased probands with enough clinical information available to satisfy study
requirements
- Probands who participated in a prior Freeman-Sheldon Research Group (FSRG)-study are
automatically accepted, since their diagnoses have been confirmed by FSRG clinical
faculty.
- Probands with a reported qualifying diagnosis, who have not participated in a prior
FSRG-study, will be required to complete the complete a survey from a prior study and
provide photographs and any requested medical records to confirm their diagnoses.
- Family members and other close contacts may enrol, so long as they have either
resided with or had substantial and prolonged contact with a proband, who has an
FSRG-verified qualifying diagnosis. Investigators will make the final decision on a
case-by-case basis, based on information provided.
Exclusion Criteria:
- Patients with other anomalies, not having one of the above syndromes, will not be
accepted.
- Deceased probands will not be accepted for analysis, without enough clinical data
available to satisfy study data collection requirements.
- Patients or parents of minor children not willing to give consent will not be
included.
- Family members or other contacts that neither resided with nor had substantial and
prolonged contact with the proband.
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