Arthrogryposis Distal Type 1, Arthrogryposis Distal Type 3, Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Freeman-Sheldon Syndrome Variant, Gordon Syndrome, Sheldon-Hall Syndrome, Whistling Face Syndrome
Conditions
Keywords
craniofacial abnormalities, arthrogryposis, rehabilitation, surgery, therapy, health status, quality of life, patient reported outcome, health-related quality of life, depressive symptoms
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.
Interventions
OTHERGuided Health History for Freeman-Burian Syndrome Questionnaire
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.
OTHERFreeman-Burian syndrome Semi-Structured Quality of Life Interview
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.
Review of medical records will be used, along with Guided Health History for Freeman-Burian Syndrome Questionnaire to assess patient histories and outcomes.
OTHERPTSD Checklist for DSM-5
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.
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.
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.
OTHERReview of Systems
Completed during the interview. A review of systems is a checklist of medical problems.
OTHERFACE-Q | Craniofacial - Appearance of the Face
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.
OTHERFACE-Q | Craniofacial - Appearance Distress
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.
OTHERFACE-Q | Craniofacial - Facial Function
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.
Sponsors
Dufresne, Craig, MD, PC
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Difference in intervention-related outcome rates between groups | During a single study interview, which lasts 1-2 hours | 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. |
| Difference in diagnostic accuracy between groups | During a single study interview, which lasts 1-2 hours | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Difference in quality-of-life between groups | 1 week to 1 day before a single study interview, which lasts 1-2 hours | Quality-of-life is scored using the self-completed Modified Flanagan Quality of Life Scale. |
| Difference in facial appearance satisfaction between groups | 1 week to 1 day before a single study interview, which lasts 1-2 hours | Facial appearance satisfaction is scored using the self-completed FACE-Q \| Craniofacial - Appearance of the Face. |
| Difference in posttraumatic stress disorder symptoms between groups | 1 week to 1 day before a single study interview, which lasts 1-2 hours | 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. |
| Difference in facial muscle functioning symptoms between groups | 1 week to 1 day before a single study interview, which lasts 1-2 hours | Facial muscle functioning symptoms are scored using the self-completed FACE-Q \| Craniofacial - Facial Function. |
| Difference in facial appearance distress between groups | 1 week to 1 day before a single study interview, which lasts 1-2 hours | Facial appearance distress is scored using the self-completed FACE-Q \| Craniofacial - Appearance Distress. |
| Difference in depressive symptoms between groups | 1 week to 1 day before a single study interview, which lasts 1-2 hours | Depressive symptoms are assessed using the self-completed and validated Center for Epidemiologic Studies Depression Scale. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Difference in rates of difficulty eating (chewing and swallowing) between groups | During a single study interview, which lasts 1-2 hours | Difficulty eating (chewing and swallowing) is assessed using the Guided Health History for Freeman-Burian Syndrome Questionnaire. Additional information on physical findings is collected using the Review of Systems forms and from the Medical Records Review. |
| Difference in diagnostic accuracy between specialities between all sub-types of Freeman-Burian syndrome and the other diagnosis groups (Sheldon-Hall syndrome, distal arthrogryposis type 3, and distal arthrogryposis type 1) | During a single study interview, which lasts 1-2 hours | Diagnostic accuracy is the percent of patients with a stated diagnosis re-screened by study investigators with the same diagnosis. Specialities include: orthopedics, plastic surgery, anesthesia, pediatrics, and medical genetics. Diagnostic information is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire and Medical Records Review. |
| Qualitative difference in quality of life between groups | During a single study interview, which lasts 1-2 hours | Qualitative assessment is done using the Freeman-Burian syndrome Semi-Structured Quality of Life Interview, a guided interview consisting of open-ended questions. |
| Difference in rates of difficulty walking between groups | During a single study interview, which lasts 1-2 hours | Difficulty walking is assessed using the Guided Health History for Freeman-Burian Syndrome Questionnaire. Additional information on physical findings is collected using the Review of Systems forms and from the Medical Records Review. |
| Difference in head and face (craniofacial) surgery-related outcome rates between groups | During a single study interview, which lasts 1-2 hours | Outcomes for all head and face (craniofacial) surgeries are rated as either acceptable, unacceptable, or harmful/potentially 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. |
| Difference in spine surgery-related outcome rates between groups | During a single study interview, which lasts 1-2 hours | Outcomes for all spine surgeries are rated as either acceptable, unacceptable, or harmful/potentially 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. |
| Difference in foot and ankle surgery-related outcome rates between groups | During a single study interview, which lasts 1-2 hours | Outcomes for all foot and ankle surgeries are rated as either acceptable, unacceptable, or harmful/potentially 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. |
| Difference in hand and wrist surgery-related outcome rates between groups | During a single study interview, which lasts 1-2 hours | Outcomes for all hand and wrist surgeries are rated as either acceptable, unacceptable, or harmful/potentially 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. |
| Difference in other bone and joint surgery-related outcome rates between groups | During a single study interview, which lasts 1-2 hours | Outcomes for other bone and joint surgeries are rated as either acceptable, unacceptable, or harmful/potentially 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. |
| Difference in general anesthesia-related complication rates between groups | During a single study interview, which lasts 1-2 hours | The course of general anesthesia-related is rated as either routine, minor, complication, major complication, or failure. Information related to complications of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review. |
| Difference in respiratory-related complication rates between groups | During a single study interview, which lasts 1-2 hours | Respiratory-related complications are assessed using the Guided Health History for Freeman-Burian Syndrome Questionnaire. Additional information on physical findings is collected using the Review of Systems forms and from the Medical Records Review. |
Countries
United States
Contacts
Primary ContactMikaela I Poling, BA
Backup ContactCraig R Dufresne, MD
Outcome results
None listed