Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome (STOP-FSS)
Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome
Freeman-Sheldon syndrome (FSS) is a rare muscle disorder present before birth, involving primarily problems of the face and skull and the hands and feet.
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.
Study Overview
Status
Conditions
- Craniofacial Abnormalities
- Arthrogryposis
- Freeman-Sheldon Syndrome
- Arthrogryposis Distal Type 2A
- Whistling Face Syndrome
- Craniocarpotarsal Dysplasia
- Craniocarpotarsal Dystrophy
- Freeman-Sheldon Syndrome Variant
- Sheldon-Hall Syndrome
- Arthrogryposis Distal Type 2B
- Gordon Syndrome
- Arthrogryposis Distal Type 3
- Arthrogryposis Distal Type 1
- Arthrogryposis, Distal, Type 1A
- Arthrogryposis Distal Type 1B
- Arthrogryposis, Distal
Intervention / Treatment
- Other: PTSD Checklist-Civilian (PCL-C)
- Other: Modified Flanagan Quality of Life Scale
- Other: Center for Epidemiologic Studies Depression Scale (CES-D)
- Other: Functional Enquiry (or Review of Systems) Form
- Other: Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire
- Other: FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)
- Other: Medical Records Review
Detailed Description
This study was initiated by the research assistant (Mikaela I. Poling) and assisted by another research assistant (J. Andrés Morales), as part of their academic project on these syndromes, under the supervision of the Principal Investigator (Robert L Chamberlain).
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.
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
West Virginia
-
Buckhannon, West Virginia, United States, 26201
- Freeman-Sheldon Research Group, Inc. Headquarters
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Patients who have phenotypes consistent with (1) the Stevenson criteria for classic FBS or SHS; (2) one of four tentative FBS subtypes; or (3) DA1A, DA1B, or DA3.
- 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:
- Patients who do not have phenotypes consistent with (1) the Stevenson criteria for classic FBS or SHS; (2) one of four tentative FBS subtypes; or (3) DA1A, DA1B, or DA3.
- 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
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Cross-Sectional
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
|---|---|
|
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.
|
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Completed during the interview; it is a checklist of medical problems.
Other Names:
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
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.
Other Names:
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
|
|
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).
|
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Completed during the interview; it is a checklist of medical problems.
Other Names:
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
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.
Other Names:
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
|
|
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.
|
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Completed during the interview; it is a checklist of medical problems.
Other Names:
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
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.
Other Names:
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
|
|
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.
|
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Completed during the interview; it is a checklist of medical problems.
Other Names:
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
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.
Other Names:
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
|
|
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.
|
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Completed during the interview; it is a checklist of medical problems.
Other Names:
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
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.
Other Names:
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
|
|
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.
|
Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.
Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.
Other Names:
Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.
Completed during the interview; it is a checklist of medical problems.
Other Names:
The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.
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.
Other Names:
Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.
Other Names:
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Physical Findings and Complications of Physical Findings
Time Frame: during a single study interview, which lasts 1-2 hours
|
The frequency to which certain features of the syndromes contribute to mortality or morbidity, especially life-long functional impairment.
|
during a single study interview, which lasts 1-2 hours
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Posttraumatic Stress and Depressive Symptoms
Time Frame: at study enrolment and during a single study interview, which lasts 1-2 hours
|
Increased frequency of mental health symptoms (posttraumatic and depressive) over expected for general population
|
at study enrolment and during a single study interview, which lasts 1-2 hours
|
Other Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Intervention-Related Outcome
Time Frame: during a single study interview, which lasts 1-2 hours
|
Self-report or medical record evidence of ability to complete activities of daily living and instrumental activities of daily living compared with abilities before each intervention reported and, if relevant, how long this change in abilities lasted
|
during a single study interview, which lasts 1-2 hours
|
|
Quality of Life Status
Time Frame: at enrolment and during a single study interview, which lasts 1-2 hours
|
Stated and evidenced experience of life
|
at enrolment and during a single study interview, which lasts 1-2 hours
|
|
Educational attainment
Time Frame: during a single study interview, which lasts 1-2 hours
|
Educational level completed compared with age
|
during a single study interview, which lasts 1-2 hours
|
|
Diagnostic Accuracy for Freeman-Sheldon and Sheldon-Hall syndromes
Time Frame: at study enrolment
|
Correct diagnosis, using the Stevenson criteria
|
at study enrolment
|
|
Correlations of Full and Partial Stevenson Criteria Freeman-Sheldon syndrome with
Time Frame: at study enrolment and during a single study interview, which lasts 1-2 hours
|
Significant differences or correlations of patients meeting the full Stevenson criteria for FSS with those fulfilling the craniofacial part of the Stevenson criteria, with or without additional malformations
|
at study enrolment and during a single study interview, which lasts 1-2 hours
|
Collaborators and Investigators
Publications and helpful links
General Publications
- 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.
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 000063
- U1111-1120-5851 (World Health Organisation, Universal Trial Number)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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