Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
NCT ID: NCT01144741
Last Updated: 2022-06-21
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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TERMINATED
2 participants
OBSERVATIONAL
2010-02-28
2022-06-14
Brief Summary
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This is a study of problems, experiences, helpful treatments, and quality of life focusing on patients with FSS but including patients with Sheldon-Hall syndrome (SHS), distal arthrogryposis type 1 (DA1), and distal arthrogryposis type 3 (DA3), also called Gorden syndrome. These and related disorders are very challenging to treat, partly because the big differences in individual patients and lack of information on previous clinical experience with treatment options. It is hoped the study will identify areas for further research in physiology and therapy.
This study will cover all types of treatment \[medical (non-surgical), including psychiatric, and surgical treatments\], even unconventional. It also includes questions about effects on the patient's thoughts, feelings, quality of life, and relationship with siblings, family, and parents' and if any intervention was required or advised. This study will also look for similarities and differences in patients who meet the head and face part of the diagnostic criteria but do not meet all other parts and patients who met the full diagnostic criteria. There will be questions about problems or experiences to investigate if both groups of patients may have the same syndrome. Treatment success depends on getting a correct diagnosis.
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Detailed Description
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Classic FSS, SHS, DA1, and DA3 are poorly understood pathological entities that share some similar physical findings to FSS. Stevenson et al. (2006) provided the only study to date on FSS features and history. They did not, however, focus on therapeutic outcomes, and there was limited anecdotal outcome data in single and multiple case reports.
The objectives for STOP-FSS are as follows: to evaluate (1) physical findings, possible frequency clusters, and complications of physical findings amongst patients with FSS; (2) posttraumatic stress and depressive symptoms and associated therapeutic outcomes in patients with FSS, using single-disease specific (i.e., posttraumatic stress symptoms, chronic depression) measures; (3) document treatment types and outcomes; (4) evaluate quality of life in patients with FSS, using a general quality of life self-report measure and syndrome-specific semi-structured quality of life interview; (5) educational attainment and services used; (6) evaluate diagnostic accuracy of FSS and SHS, using the Stevenson criteria; and (7) evaluate possible differences with patients meeting the full Stevenson criteria and those fulfilling the craniofacial part of the Stevenson criteria, with or without additional malformations.
The following hypotheses are thus proposed. First, it is suggested that physical findings and frequency clusters will be similar to those previously reported, but complications of physical findings amongst patients with FSS, having received little attention in the literature, will be pronounced and result in nearly as significant of a disease burden for the patient as the primary physical findings themselves, e.g., intercostal myopathy eventually leading to right heart failure in some patients. Second, it is suggested that FSS is associated with higher rates of posttraumatic stress symptoms, depressive symptoms than is observed in the general population. Third, it is suggested that physiotherapy alone or with surgery is expected to be superior to surgery alone, especially for patients with FSS, in treating most problems, but surgery may have an important role, especially treating blepharophimosis and in combination with intensive pre- and post-operative physiotherapy in treating selective tendon lengthening in hands and feet. Fourth, it is suggested that FSS is associated with reduced quality of life than is observed in the general population. Fifth, it is suggested that when patients with FSS who do not have neurocognitive features receive the appropriate academic services, they frequently excel beyond family and peers, and it is also suggested that most patients with FSS do not receive educational services that are responsive to their unique needs and abilities, e.g., placement in 'special' classes or schools based on the patient's appearance or poorly conducted intelligence tests. Sixth, it is suggested, based on systematic review and meta-analysis preliminary results, that two-thirds of patients with a stated diagnosis of FSS will not meet the Stevenson criteria and be rediagnosed, mostly as DA1. Seventh, it is suggested, based on systematic review and meta-analysis preliminary results, that two-thirds of patients with stated diagnosis of FSS who do not meet the Stevenson criteria, one-third will be meet the craniofacial stipulates of the Stevenson criteria, with or without additional malformations, and share a natural history with those who met the full Stevenson criteria.
Conditions
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Study Design
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CASE_ONLY
CROSS_SECTIONAL
Study Groups
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Freeman-Sheldon syndrome Classic Type
Patients who have all features required by the Stevenson criteria, including: very small mouth (microstomia); whistling-face appearance (pursed lips); "H" or "V" shaped chin dimple; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Freeman-Sheldon syndrome Craniofacial Type
Patients who have only the face and skull physical findings required by the Stevenson criteria, including: very small mouth (microstomia), whistling-face appearance (pursed lips), "H" or "V" shaped chin dimple, very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases).
PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Freeman-Sheldon syndrome Mixed Type
Patients who have the face and skull physical findings required by the Stevenson criteria and some but not all required joint problems.
PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Sheldon-Hall syndrome
Patients who have all features required by the Stevenson criteria, including: small mouth (not microstomia); neck webbing (pterygium colli); small but prominent chin; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Distal Arthrogryposis Type 1
Patients with features consistent with this diagnosis, including restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Distal Arthrogryposis Type 3
Patients with features consistent with this diagnosis, including: gap in the roof of the mouth (cleft palate); drooping eyelid (blepharoptosis); and backbones curve problems; and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Interventions
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PTSD Checklist-Civilian (PCL-C)
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Modified Flanagan Quality of Life Scale
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Center for Epidemiologic Studies Depression Scale (CES-D)
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Functional Enquiry (or Review of Systems) Form
Completed during the interview; it is a checklist of medical problems.
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.
Medical Records Review
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* Any of the following: (1) patients or parents of minor children willing to give consent, or (2) patients who are deceased or (3) retrospective chart review patients (living or deceased) who have enough clinical data available to establish the diagnosis and satisfy minimum data collection requirements.
* Persons who speak English, Spanish, German, Russian, or Czech.
Exclusion Criteria
* Any of the following: (1) patients or parents of minor children not willing to give consent, or (2) patients who are deceased or (3) retrospective chart review patients (living or deceased) who do not have enough clinical data available to establish the diagnosis and satisfy minimum data collection requirements.
* Potentially persons who speak languages other than English, Spanish, German, Russian, or Czech, subject to translator availability
ALL
No
Sponsors
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Freeman-Sheldon Research Group, Inc.
OTHER
Responsible Party
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Locations
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Freeman-Sheldon Research Group, Inc. Headquarters
Buckhannon, West Virginia, United States
Countries
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References
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Poling MI, Morales Corado JA, Chamberlain RL. Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. Syst Rev. 2017 Mar 6;6(1):46. doi: 10.1186/s13643-017-0444-4.
Chamberlain RL, Poling MI, Portillo AL, Morales A, Ramirez RR, McCormick RJ. Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features. BMJ Case Rep. 2015 Oct 22;2015:bcr2015212607. doi: 10.1136/bcr-2015-212607.
Other Identifiers
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U1111-1120-5851
Identifier Type: OTHER
Identifier Source: secondary_id
000063
Identifier Type: -
Identifier Source: org_study_id
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