Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions

Summary

Freeman-Sheldon syndrome (FSS) is a rare human neuromusculoskeletal disorder present before birth, involving primarily limb and craniofacial deformities.

The hypotheses in the present study of FSS and related conditions are: (1) FSS and related conditions are associated with higher rates of posttraumatic stress symptoms (PTSS), depression, and reduced quality of life than is observed in the general population; (2) persons close to an individual with FSS or related condition suffer similarly; and (3) current measures, which are single-disease specific (i.e., PTSS, depression, craniofacial deformities, or limb deformities), do not capture the unique picture of FSS and related conditions, which involve both limb and craniofacial deformities in an intellectually capable individual.

There have been no studies looking at quality of life associated with FSS. Some authors have looked at quality of life in persons with facial differences; other authors have looked at bone and joint problems. Many other authors have looked at PTSS and depression caused by health problems and bad medical experiences. No authors have looked at these problems when they happen together, as they do in FSS. Because of the above, there may be differences in patients that have FSS versus patients in previous quality of life studies. The study will also develop and validate an outcomes-based quality of life survey for FSS and related conditions.

Conditions

• Arthrogryposis
• Craniofacial Abnormalities
• Posttraumatic Stress Disorder
• Depressive Disorder

Interventions

OTHER

PTSD Checklist-Specific

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

OTHER

Modified Flanagan Quality of Life Scale

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

OTHER

Center for Epidemiologic Studies Depression Scale

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

OTHER

Functional Enquiry Form

Completed by patients before clinical examination; it is a checklist of medical problems.

OTHER

Strength, Joint ROM, Girth and Length Measurements

Completed during the clinical examination by the researchers, it is a structured approach to evaluation of muscles, joints, arms, thighs, and legs.

OTHER

Study Physical Examination

Completed during the clinical examination by the researchers, it is a structured approach to a full physical examination, minus breasts, genitalia or rectum.

OTHER

PTSD, Depression, and FSS-Focused Examination

Completed during the clinical examination by the researchers, it is a structured approach to evaluation of symptoms, signs, and perceptions that may be related to FSS, PTSS, or depressive problems.

OTHER

Freeman-Sheldon Specific Quality of Life Survey

Completed after data analysis from the existing surveys and clinical examination, it will be a specific quality of life survey developed and tested during the study; it will take into consideration individual's total health outcome.

OTHER

Lactate, Glucose, and Adenosine Triphosphate Blood Levels

Completed during the clinical examination by the researchers, lactate, glucose, and free and total adenosine triphosphate blood levels are determined at rest.

Sponsors & Collaborators

• Freeman-Sheldon Research Group, Inc.

  lead OTHER

Principal Investigators

• Robert L Chamberlain, MD · Freeman-Sheldon Research Group, Inc.

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2011-02-28

Primary Completion

2017-04-01

Completion

2017-04-01

Countries

• United States
• Guatemala

Study Locations