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

Summary

Freeman-Sheldon syndrome (FSS) is a rare muscle disorder present before birth, involving primarily problems of the face and skull and the hands and feet.

This is a study of problems, experiences, helpful treatments, and quality of life focusing on patients with FSS but including patients with Sheldon-Hall syndrome (SHS), distal arthrogryposis type 1 (DA1), and distal arthrogryposis type 3 (DA3), also called Gorden syndrome. These and related disorders are very challenging to treat, partly because the big differences in individual patients and lack of information on previous clinical experience with treatment options. It is hoped the study will identify areas for further research in physiology and therapy.

This study will cover all types of treatment \[medical (non-surgical), including psychiatric, and surgical treatments\], even unconventional. It also includes questions about effects on the patient's thoughts, feelings, quality of life, and relationship with siblings, family, and parents' and if any intervention was required or advised. This study will also look for similarities and differences in patients who meet the head and face part of the diagnostic criteria but do not meet all other parts and patients who met the full diagnostic criteria. There will be questions about problems or experiences to investigate if both groups of patients may have the same syndrome. Treatment success depends on getting a correct diagnosis.

Conditions

• Freeman-Sheldon Syndrome
• Arthrogryposis Distal Type 2A
• Whistling Face Syndrome
• Craniocarpotarsal Dysplasia
• Craniocarpotarsal Dystrophy
• Freeman-Sheldon Syndrome Variant
• Sheldon-Hall Syndrome
• Arthrogryposis Distal Type 2B
• Gordon Syndrome
• Arthrogryposis Distal Type 3
• Arthrogryposis Distal Type 1
• Arthrogryposis, Distal, Type 1A
• Arthrogryposis Distal Type 1B
• Arthrogryposis, Distal
• Craniofacial Abnormalities
• Arthrogryposis

Interventions

OTHER

PTSD Checklist-Civilian (PCL-C)

Completed by patients before the interview; it is a 17-item survey listing of symptoms of posttraumatic stress disorder.

OTHER

Modified Flanagan Quality of Life Scale

Completed by patients before the interview; it is a 16-item survey designed for use in persons with chronic illness.

OTHER

Center for Epidemiologic Studies Depression Scale (CES-D)

Completed by patients before the interview; it is a 20-item survey that asks about depressive feelings and behaviours in the past week.

OTHER

Functional Enquiry (or Review of Systems) Form

Completed during the interview; it is a checklist of medical problems.

OTHER

Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire

The STOP Questionnaire is a guided interview form that will be used to assess diagnosis, problems, treatments, and outcomes.

OTHER

FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI)

Completed after data analysis from the existing surveys, it will be a specific quality of life interview, taking into consideration individual's total health outcome.

OTHER

Medical Records Review

Review of medical records will be used, along with STOP-FSS Survey to assess patient histories and outcomes.

Sponsors & Collaborators

• Freeman-Sheldon Research Group, Inc.

  lead OTHER

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2010-02-28

Primary Completion

2022-06-14

Completion

2022-06-14

Countries

• United States

Study Locations