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

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.

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

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.

Sponsors & Collaborators

• Dufresne, Craig, MD, PC

  lead OTHER

Principal Investigators

• Craig R Dufresne, MD · Dr Craig R Dufresne, MD, PC

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2022-06-01

Primary Completion

2023-12-31

Completion

2023-12-31

Countries

• United States

Study Locations