NCT05419245

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

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 20 (estimated)
• Sponsor: Dufresne, Craig, MD, PC · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

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

Interventions

Type	Name	Description
OTHER	Guided 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.
OTHER	Freeman-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.
OTHER	Medical Records Review	Review of medical records will be used, along with Guided Health History for Freeman-Burian Syndrome Questionnaire to assess patient histories and outcomes.
OTHER	PTSD 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.
OTHER	Modified Flanagan Quality of Life Scale	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.
OTHER	Center for Epidemiologic Studies Depression Scale	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.
OTHER	Review of Systems	Completed during the interview. A review of systems is a checklist of medical problems.
OTHER	FACE-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.
OTHER	FACE-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.
OTHER	FACE-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.

Timeline

• Start date: 2022-06-01
• Primary completion: 2023-12-01
• Completion: 2023-12-01
• First posted: 2022-06-15
• Last updated: 2022-07-19

Locations

1 site across 1 country: United States