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

Study 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.

Primary Outcome

The frequency to which certain features of the syndromes contribute to mortality or morbidity, especially life-long functional impairment.

Interventions

• OTHER Modified Flanagan Quality of Life Scale
• OTHER PTSD Checklist-Civilian (PCL-C)
• OTHER Center for Epidemiologic Studies Depression Scale (CES-D)
• OTHER Functional Enquiry (or Review of Systems) Form
• OTHER Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire