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.
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.
Study Type
OBSERVATIONAL
Enrollment
20
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.
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.
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.
Completed during the interview. A review of systems is a checklist of medical problems.
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.
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.
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.
Office of Craig R Dufresne, MD, PC
Fairfax, Virginia, United States
RECRUITINGDifference 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.
Time frame: 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.
Time frame: During a single study interview, which lasts 1-2 hours
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".
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 1 week to 1 day before a single study interview, which lasts 1-2 hours
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