Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome

Study Overview
=================
Brief Summary
-----------------
The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between Freeman-Burian syndrome (formerly, Freeman-Sheldon or whistling face syndrome), Sheldon-Hall syndrome, and distal arthrogryposis types 3, and 1. The approximate cumulative total time for study-related activities will be 3 hours, including email communication, survey completion, and a medical interview. The study will involve completing 6 short ½ to 1-page surveys and participating in a medical interview. Participants may be asked to provide medical records for review. All study-related activities will take place remotely, and no travel is required.

Detailed Description
-----------------
According to the only study of patients and a recent study of individual case reports, Freeman-Burian syndrome (FBS) may be over-diagnosed by 33-66%, and it is most often confused with Sheldon-Hall syndrome and distal arthrogryposis (DA) types 3 and 1. Unfortunately, while these conditions are different from FBS, many think of them as being less severe versions of FBS. This is not true. FBS is a skull and face syndrome, while Sheldon-Hall syndrome and DA types 1 and 3 are syndromes of the arms, legs, hands, and feet that (except DA type 1) may have mild face deformities. It is important to understand this difference, FBS does not respond well to treatment. The other syndromes generally do respond well to treatment. To improve diagnosis and treatment, it is important to understand factors contributing to an accurate diagnosis and treatment outcome. To provide better evidence for these being very different syndromes, it also is important to compare the above areas of health between people with all of these syndromes. It is hoped the study will help improve treatment and identify areas for further research.

Official Title
-----------------
Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes: a Cross-sectional, Non-randomized Study

Conditions
-----------------
Freeman-Sheldon Syndrome Variant, Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome, Arthrogryposis Distal Type 1, Arthrogryposis Distal Type 3, Gordon Syndrome

Intervention / Treatment
-----------------
* Other: Guided Health History for Freeman-Burian Syndrome Questionnaire
* Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview
* Other: Medical Records Review
* Other: PTSD Checklist for DSM-5
* Other: Modified Flanagan Quality of Life Scale
* Other: Center for Epidemiologic Studies Depression Scale
* Other: Review of Systems
* Other: FACE-Q | Craniofacial - Appearance of the Face
* Other: FACE-Q | Craniofacial - Appearance Distress
* Other: FACE-Q | Craniofacial - Facial Function


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Patients who are able to provide informed consent or have a legally appointed representative who is able to provide informed consent Patients who have Freeman-Burian syndrome (formerly, Freeman-Sheldon syndrome), Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3 Persons who speak and read English, German, Russian, or Czech Exclusion Criteria: Patients who are not able to provide informed consent or do not have a legally appointed representative who is able to provide informed consent Patients who do not have Freeman-Burian syndrome (formerly, Freeman-Sheldon syndrome), Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3 Persons who do not speak or read English, German, Russian, or Czech
Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Freeman-Sheldon syndrome Classic Type<br>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. | Other: Guided Health History for Freeman-Burian Syndrome Questionnaire<br>* Completed during the interview. The Guided Health History for Freeman-Burian Syndrome Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.<br>Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview<br>* Completed during the interview. Freeman-Burian syndrome Semi-Structured Quality of Life Interview is a quality of life interview for Freeman-Burian syndrome, taking into consideration individual's total health.<br>Other: Medical Records Review<br>* Review of medical records will be used, along with Guided Health History for Freeman-Burian Syndrome Questionnaire to assess patient histories and outcomes.<br>* Other names: review of clinical data;Other: PTSD Checklist for DSM-5<br>* Completed by patients before the interview. The PTSD Checklist for DSM-5 is a 20-item questionnaire. Each item is rated 0-4, with 0 being Not at all and 4 being Extremely. Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Modified Flanagan Quality of Life Scale<br>* Completed by patients before the interview. The Modified Flanagan Quality of Life Scale is a 16-item survey designed for use in persons with chronic illness. Each item is rated 1-7, with 1 being Terrible and 7 being Delighted. Higher scores suggest the person may be experiencing a better quality of life.<br>Other: Center for Epidemiologic Studies Depression Scale<br>* Completed by patients before the interview. The Center for Epidemiologic Studies Depression Scale is a 20-item survey that asks about depressive feelings and behaviours in the past week. Each item is rated 0-3, with 0 being Rarely or none of the time (less than 1 day) and 3 being Most or all of the time (5-7 days). Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Review of Systems<br>* Completed during the interview. A review of systems is a checklist of medical problems.<br>* Other names: medical history;Other: FACE-Q | Craniofacial - Appearance of the Face<br>* Completed by patients. The FACE-Q | Craniofacial - Appearance of the Face is a 9-item questionnaire. Each item is rated 1-4, with 1 being Not at All and 4 being Very Much. Lower scores suggest the person may be less pleased with the appearance of their face.<br>Other: FACE-Q | Craniofacial - Appearance Distress<br>* Completed by patients. The FACE-Q | Craniofacial - Appearance Distress is an 8-item questionnaire. Each item is rated 1-4, with 1 being Always and 4 being Never. Lower scores suggest the person may be experiencing more distress related to the appearance of their face.<br>Other: FACE-Q | Craniofacial - Facial Function<br>* Completed by patients. The FACE-Q | Craniofacial - Facial Function is a 10-item questionnaire. Each item is rated 1-3, with 1 being I cannot do this and 3 being I can do this. Lower scores suggest the person may be experiencing more problems with facial muscle functioning.<br>|
| Freeman-Sheldon syndrome Craniofacial Type<br>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). | Other: Guided Health History for Freeman-Burian Syndrome Questionnaire<br>* Completed during the interview. The Guided Health History for Freeman-Burian Syndrome Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.<br>Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview<br>* Completed during the interview. Freeman-Burian syndrome Semi-Structured Quality of Life Interview is a quality of life interview for Freeman-Burian syndrome, taking into consideration individual's total health.<br>Other: Medical Records Review<br>* Review of medical records will be used, along with Guided Health History for Freeman-Burian Syndrome Questionnaire to assess patient histories and outcomes.<br>* Other names: review of clinical data;Other: PTSD Checklist for DSM-5<br>* Completed by patients before the interview. The PTSD Checklist for DSM-5 is a 20-item questionnaire. Each item is rated 0-4, with 0 being Not at all and 4 being Extremely. Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Modified Flanagan Quality of Life Scale<br>* Completed by patients before the interview. The Modified Flanagan Quality of Life Scale is a 16-item survey designed for use in persons with chronic illness. Each item is rated 1-7, with 1 being Terrible and 7 being Delighted. Higher scores suggest the person may be experiencing a better quality of life.<br>Other: Center for Epidemiologic Studies Depression Scale<br>* Completed by patients before the interview. The Center for Epidemiologic Studies Depression Scale is a 20-item survey that asks about depressive feelings and behaviours in the past week. Each item is rated 0-3, with 0 being Rarely or none of the time (less than 1 day) and 3 being Most or all of the time (5-7 days). Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Review of Systems<br>* Completed during the interview. A review of systems is a checklist of medical problems.<br>* Other names: medical history;Other: FACE-Q | Craniofacial - Appearance of the Face<br>* Completed by patients. The FACE-Q | Craniofacial - Appearance of the Face is a 9-item questionnaire. Each item is rated 1-4, with 1 being Not at All and 4 being Very Much. Lower scores suggest the person may be less pleased with the appearance of their face.<br>Other: FACE-Q | Craniofacial - Appearance Distress<br>* Completed by patients. The FACE-Q | Craniofacial - Appearance Distress is an 8-item questionnaire. Each item is rated 1-4, with 1 being Always and 4 being Never. Lower scores suggest the person may be experiencing more distress related to the appearance of their face.<br>Other: FACE-Q | Craniofacial - Facial Function<br>* Completed by patients. The FACE-Q | Craniofacial - Facial Function is a 10-item questionnaire. Each item is rated 1-3, with 1 being I cannot do this and 3 being I can do this. Lower scores suggest the person may be experiencing more problems with facial muscle functioning.<br>|
| Freeman-Sheldon syndrome Mixed Type<br>Patients who have the face and skull physical findings required by the Stevenson criteria and some but not all required joint problems. | Other: Guided Health History for Freeman-Burian Syndrome Questionnaire<br>* Completed during the interview. The Guided Health History for Freeman-Burian Syndrome Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.<br>Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview<br>* Completed during the interview. Freeman-Burian syndrome Semi-Structured Quality of Life Interview is a quality of life interview for Freeman-Burian syndrome, taking into consideration individual's total health.<br>Other: Medical Records Review<br>* Review of medical records will be used, along with Guided Health History for Freeman-Burian Syndrome Questionnaire to assess patient histories and outcomes.<br>* Other names: review of clinical data;Other: PTSD Checklist for DSM-5<br>* Completed by patients before the interview. The PTSD Checklist for DSM-5 is a 20-item questionnaire. Each item is rated 0-4, with 0 being Not at all and 4 being Extremely. Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Modified Flanagan Quality of Life Scale<br>* Completed by patients before the interview. The Modified Flanagan Quality of Life Scale is a 16-item survey designed for use in persons with chronic illness. Each item is rated 1-7, with 1 being Terrible and 7 being Delighted. Higher scores suggest the person may be experiencing a better quality of life.<br>Other: Center for Epidemiologic Studies Depression Scale<br>* Completed by patients before the interview. The Center for Epidemiologic Studies Depression Scale is a 20-item survey that asks about depressive feelings and behaviours in the past week. Each item is rated 0-3, with 0 being Rarely or none of the time (less than 1 day) and 3 being Most or all of the time (5-7 days). Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Review of Systems<br>* Completed during the interview. A review of systems is a checklist of medical problems.<br>* Other names: medical history;Other: FACE-Q | Craniofacial - Appearance of the Face<br>* Completed by patients. The FACE-Q | Craniofacial - Appearance of the Face is a 9-item questionnaire. Each item is rated 1-4, with 1 being Not at All and 4 being Very Much. Lower scores suggest the person may be less pleased with the appearance of their face.<br>Other: FACE-Q | Craniofacial - Appearance Distress<br>* Completed by patients. The FACE-Q | Craniofacial - Appearance Distress is an 8-item questionnaire. Each item is rated 1-4, with 1 being Always and 4 being Never. Lower scores suggest the person may be experiencing more distress related to the appearance of their face.<br>Other: FACE-Q | Craniofacial - Facial Function<br>* Completed by patients. The FACE-Q | Craniofacial - Facial Function is a 10-item questionnaire. Each item is rated 1-3, with 1 being I cannot do this and 3 being I can do this. Lower scores suggest the person may be experiencing more problems with facial muscle functioning.<br>|
| Sheldon-Hall syndrome<br>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. | Other: Guided Health History for Freeman-Burian Syndrome Questionnaire<br>* Completed during the interview. The Guided Health History for Freeman-Burian Syndrome Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.<br>Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview<br>* Completed during the interview. Freeman-Burian syndrome Semi-Structured Quality of Life Interview is a quality of life interview for Freeman-Burian syndrome, taking into consideration individual's total health.<br>Other: Medical Records Review<br>* Review of medical records will be used, along with Guided Health History for Freeman-Burian Syndrome Questionnaire to assess patient histories and outcomes.<br>* Other names: review of clinical data;Other: PTSD Checklist for DSM-5<br>* Completed by patients before the interview. The PTSD Checklist for DSM-5 is a 20-item questionnaire. Each item is rated 0-4, with 0 being Not at all and 4 being Extremely. Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Modified Flanagan Quality of Life Scale<br>* Completed by patients before the interview. The Modified Flanagan Quality of Life Scale is a 16-item survey designed for use in persons with chronic illness. Each item is rated 1-7, with 1 being Terrible and 7 being Delighted. Higher scores suggest the person may be experiencing a better quality of life.<br>Other: Center for Epidemiologic Studies Depression Scale<br>* Completed by patients before the interview. The Center for Epidemiologic Studies Depression Scale is a 20-item survey that asks about depressive feelings and behaviours in the past week. Each item is rated 0-3, with 0 being Rarely or none of the time (less than 1 day) and 3 being Most or all of the time (5-7 days). Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Review of Systems<br>* Completed during the interview. A review of systems is a checklist of medical problems.<br>* Other names: medical history;Other: FACE-Q | Craniofacial - Appearance of the Face<br>* Completed by patients. The FACE-Q | Craniofacial - Appearance of the Face is a 9-item questionnaire. Each item is rated 1-4, with 1 being Not at All and 4 being Very Much. Lower scores suggest the person may be less pleased with the appearance of their face.<br>Other: FACE-Q | Craniofacial - Appearance Distress<br>* Completed by patients. The FACE-Q | Craniofacial - Appearance Distress is an 8-item questionnaire. Each item is rated 1-4, with 1 being Always and 4 being Never. Lower scores suggest the person may be experiencing more distress related to the appearance of their face.<br>Other: FACE-Q | Craniofacial - Facial Function<br>* Completed by patients. The FACE-Q | Craniofacial - Facial Function is a 10-item questionnaire. Each item is rated 1-3, with 1 being I cannot do this and 3 being I can do this. Lower scores suggest the person may be experiencing more problems with facial muscle functioning.<br>|
| Distal Arthrogryposis Type 1<br>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. | Other: Medical Records Review<br>* Review of medical records will be used, along with Guided Health History for Freeman-Burian Syndrome Questionnaire to assess patient histories and outcomes.<br>* Other names: review of clinical data;Other: PTSD Checklist for DSM-5<br>* Completed by patients before the interview. The PTSD Checklist for DSM-5 is a 20-item questionnaire. Each item is rated 0-4, with 0 being Not at all and 4 being Extremely. Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Modified Flanagan Quality of Life Scale<br>* Completed by patients before the interview. The Modified Flanagan Quality of Life Scale is a 16-item survey designed for use in persons with chronic illness. Each item is rated 1-7, with 1 being Terrible and 7 being Delighted. Higher scores suggest the person may be experiencing a better quality of life.<br>Other: Center for Epidemiologic Studies Depression Scale<br>* Completed by patients before the interview. The Center for Epidemiologic Studies Depression Scale is a 20-item survey that asks about depressive feelings and behaviours in the past week. Each item is rated 0-3, with 0 being Rarely or none of the time (less than 1 day) and 3 being Most or all of the time (5-7 days). Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Review of Systems<br>* Completed during the interview. A review of systems is a checklist of medical problems.<br>* Other names: medical history;|
| Distal Arthrogryposis Type 3<br>Patients with features consistent with this diagnosis, including: gap in the roof of the mouth (cleft palate); drooping eyelid (blepharoptosis); and spine curve problems; and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping. | Other: Medical Records Review<br>* Review of medical records will be used, along with Guided Health History for Freeman-Burian Syndrome Questionnaire to assess patient histories and outcomes.<br>* Other names: review of clinical data;Other: PTSD Checklist for DSM-5<br>* Completed by patients before the interview. The PTSD Checklist for DSM-5 is a 20-item questionnaire. Each item is rated 0-4, with 0 being Not at all and 4 being Extremely. Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Modified Flanagan Quality of Life Scale<br>* Completed by patients before the interview. The Modified Flanagan Quality of Life Scale is a 16-item survey designed for use in persons with chronic illness. Each item is rated 1-7, with 1 being Terrible and 7 being Delighted. Higher scores suggest the person may be experiencing a better quality of life.<br>Other: Center for Epidemiologic Studies Depression Scale<br>* Completed by patients before the interview. The Center for Epidemiologic Studies Depression Scale is a 20-item survey that asks about depressive feelings and behaviours in the past week. Each item is rated 0-3, with 0 being Rarely or none of the time (less than 1 day) and 3 being Most or all of the time (5-7 days). Lower scores suggest the person may be experiencing fewer symptoms.<br>Other: Review of Systems<br>* Completed during the interview. A review of systems is a checklist of medical problems.<br>* Other names: medical history;Other: FACE-Q | Craniofacial - Appearance of the Face<br>* Completed by patients. The FACE-Q | Craniofacial - Appearance of the Face is a 9-item questionnaire. Each item is rated 1-4, with 1 being Not at All and 4 being Very Much. Lower scores suggest the person may be less pleased with the appearance of their face.<br>Other: FACE-Q | Craniofacial - Appearance Distress<br>* Completed by patients. The FACE-Q | Craniofacial - Appearance Distress is an 8-item questionnaire. Each item is rated 1-4, with 1 being Always and 4 being Never. Lower scores suggest the person may be experiencing more distress related to the appearance of their face.<br>Other: FACE-Q | Craniofacial - Facial Function<br>* Completed by patients. The FACE-Q | Craniofacial - Facial Function is a 10-item questionnaire. Each item is rated 1-3, with 1 being I cannot do this and 3 being I can do this. Lower scores suggest the person may be experiencing more problems with facial muscle functioning.<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Difference in intervention-related outcome rates between groups | Outcomes for all interventions are rated as either acceptable, unacceptable, or potentially harmful/harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review. | During a single study interview, which lasts 1-2 hours | 
| Difference in diagnostic accuracy between groups | This is the percent of patients with a stated diagnosis re-screened by study investigators with the same diagnosis. Diagnostic information is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire and Medical Records Review. | During a single study interview, which lasts 1-2 hours | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Difference in posttraumatic stress disorder symptoms between groups | Posttraumatic stress symptoms are assessed using the self-completed and validated PTSD Checklist for DSM-5, a 20-item questionnaire; each item is rated 0-4, with 0 being Not at all and 4 being Extremely. | 1 week to 1 day before a single study interview, which lasts 1-2 hours | 
| Difference in depressive symptoms between groups | Depressive symptoms are assessed using the self-completed and validated Center for Epidemiologic Studies Depression Scale. | 1 week to 1 day before a single study interview, which lasts 1-2 hours | 
| Difference in quality-of-life between groups | Quality-of-life is scored using the self-completed Modified Flanagan Quality of Life Scale. | 1 week to 1 day before a single study interview, which lasts 1-2 hours | 
| Difference in facial appearance satisfaction between groups | Facial appearance satisfaction is scored using the self-completed FACE-Q | Craniofacial - Appearance of the Face. | 1 week to 1 day before a single study interview, which lasts 1-2 hours | 
| Difference in facial appearance distress between groups | Facial appearance distress is scored using the self-completed FACE-Q | Craniofacial - Appearance Distress. | 1 week to 1 day before a single study interview, which lasts 1-2 hours | 
| Difference in facial muscle functioning symptoms between groups | Facial muscle functioning symptoms are scored using the self-completed FACE-Q | Craniofacial - Facial Function. | 1 week to 1 day before a single study interview, which lasts 1-2 hours | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
craniofacial abnormalities, arthrogryposis, rehabilitation, surgery, therapy, health status, quality of life, patient reported outcome, health-related quality of life, depressive symptoms