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

NCT01307475 | Terminated

• 2 other identifiers: 000082U1111-1120-5996
• Study Type: observational
• Target: 6
• Locations: 2 countries
• Sites: 2

Brief 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

Keywords

Chronic Post-Traumatic Stress Disorder; Delayed Onset Post-Traumatic Stress Disorder; Post-Traumatic Neuroses; Posttraumatic Neuroses; Post-Traumatic Stress Disorders; Posttraumatic Stress Disorders; PTSD; Post TraumaticStress Disorder; Endogenous Depression; Neurotic Depression; Depressive Syndrome; Melancholia; Depressive Neurosis; Unipolar Depression; Depressive Symptoms; Emotional Depression; Quality of Life

Outcome Measures

Primary Outcomes (1)

• Situational Mental Health in Persons with FSS or Related Condition

  Increased frequency of mental health symptoms and diagnoses (PTSS, Depression, and reduced quality of life) over expected for general population

  Evaluated during 1-2 study visits (lasting an average of 1-3 hours each) and in self-completed surveys, over an average of 2-4 years from enrolment

Secondary Outcomes (2)

• Situational Mental Health in Family and Others with a Close Relationship to a Person with FSS or Related Condition

  Evaluated during 1-2 study visits (lasting an average of 1-3 hours each) and in self-completed surveys, over an average of 2-4 years from enrolment

• Current Survey Correlation with Disorder-Specific Survey for FSS and Related Conditions

  Evaluated during 1-2 study visits (lasting an average of 1-3 hours each) and in self-completed surveys, over an average of 2-4 years from enrolment

Study Arms (3)

Proband Group

Patients identified with FSS or a related condition

Other: PTSD Checklist-Specific; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Functional Enquiry Form; Other: Strength, Joint ROM, Girth and Length Measurements; Other: Study Physical Examination; Other: PTSD, Depression, and FSS-Focused Examination; Other: Freeman-Sheldon Specific Quality of Life Survey; Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels

Family Group

Persons who are genetically or legally related to a person with FSS or related condition

Other: PTSD Checklist-Specific; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Functional Enquiry Form; Other: Strength, Joint ROM, Girth and Length Measurements; Other: Study Physical Examination; Other: PTSD, Depression, and FSS-Focused Examination; Other: Freeman-Sheldon Specific Quality of Life Survey; Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels

Other Affected Individuals Group

Persons who have had significant and meaningful contact with a person with FSS or related condition but do not qualify for family group enrolment

Other: PTSD Checklist-Specific; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Functional Enquiry Form; Other: Strength, Joint ROM, Girth and Length Measurements; Other: Study Physical Examination; Other: PTSD, Depression, and FSS-Focused Examination; Other: Freeman-Sheldon Specific Quality of Life Survey; Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels

Interventions

PTSD Checklist-Specific OTHER

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

Also known as: PCL-S, PCL-C, PTSD Checklist-Civilian

Family Group; Other Affected Individuals Group; Proband Group

Modified Flanagan Quality of Life Scale OTHER

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

Also known as: QOLS, Flanagan Quality of Life Scale, Quality of Life Scale

Family Group; Other Affected Individuals Group; Proband Group

Center for Epidemiologic Studies Depression Scale OTHER

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

Also known as: CES-D

Family Group; Other Affected Individuals Group; Proband Group

Functional Enquiry Form OTHER

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

Also known as: FSRG Form 08, health history, review of systems, systems review, medical history, personal health history

Family Group; Other Affected Individuals Group; Proband Group

Strength, Joint ROM, Girth and Length Measurements OTHER

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

Also known as: SF 527, Standard Form 527, musculoskeletal examination, musculoskeletal exam, musculoskeletal evaluation, musculoskeletal assessment, extremity examination, extremity evaluation, extremity assessment, extremity exam

Family Group; Other Affected Individuals Group; Proband Group

Study Physical Examination OTHER

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

Also known as: FSRG Form 14, physical examination, physical evaluation, physical assessment, medical examination, medical evaluation, medical assessment, full medical examination, full medical evaluation, full medical assessment, periodic medical examination, periodic medical evaluation, periodic medical assessment, annual medical examination, annual medical evaluation, annual medical assessment, yearly medical examination, yearly medical evaluation, yearly medical assessment, full physical examination, full physical evaluation, full physical assessment, complete physical examination, complete physical evaluation, complete physical assessment, yearly physical examination, yearly physical evaluation, yearly physical assessment, annual physical examination, annual physical evaluation, annual physical assessment, periodic physical examination, periodic physical evaluation, periodic physical assessment, screening physical examination, screening physical evaluation, screening physical assessment, screening physical, physical, periodic physical, annual physical, annual check-up, annual check up, yearly physical, yearly check up, yearly check-up, check up, check-up, medical check-up, medical check up, annual medical check-up, annual medical check up, yearly medical check-up, yearly medical check up, periodic medical check-up, periodic medical check up, periodic health evaluation, periodic health assessment, annual health evaluation, annual health assessment, yearly health evaluation, yearly health assessment, screening health evaluation, screening health assessment, screening medical examination, screening medical evaluation, screening medical assessment, med check

Family Group; Other Affected Individuals Group; Proband Group

PTSD, Depression, and FSS-Focused Examination OTHER

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.

Also known as: psychiatric examination, psychiatric evaluation, psychiatric assessment, diagnostic mental health examination, diagnostic mental health evaluation, diagnostic mental health assessment, diagnostic psychiatric examination, diagnostic psychiatric evaluation, diagnostic psychiatric assessment, intake examination, intake evaluation, intake assessment, mental health evaluation, mental health examination, mental health assessment, psychological examination, psychological evaluation, psychological assessment, psychological intake examination, psychological intake evaluation, psychological intake assessment, PTSD examination, PTSD evaluation, PTSD assessment, posttraumatic stress disorder evaluation, posttraumatic stress disorder examination, posttraumatic stress disorder assessment, post-traumatic stress disorder evaluation, post-traumatic stress disorder examination, post-traumatic stress disorder assessment, post traumatic stress disorder evaluation, post traumatic stress disorder examination, post traumatic stress disorder assessment, depression diagnostic examination, depression diagnostic evaluation, depression diagnostic assessment, depression evaluation, depression assessment

Family Group; Other Affected Individuals Group; Proband Group

Freeman-Sheldon Specific Quality of Life Survey OTHER

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.

Also known as: psychometric test development, psychometric testing, psychometric test validation, quality of life scale development, quality of life scale validation, quality of life survey development, quality of life survey validation, quality of life measure development, quality of life measure validation

Family Group; Other Affected Individuals Group; Proband Group

Lactate, Glucose, and Adenosine Triphosphate Blood Levels OTHER

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

Also known as: ATP levels, ATP blood levels, adenosine triphosphate test, blood test for ATP, blood test for adenosine triphosphate, ATP blood test, adenosine triphosphate blood test, ATP test, glucose test, glucose blood test, sugar test, lactic acid levels, lactic acid blood test, lactate blood test, lactate levels

Family Group; Other Affected Individuals Group; Proband Group

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients, family, and others affected world-wide are welcome, so long as they currently or previously have had significant and meaningful contact with a person who has a qualifying diagnosis.

You may qualify if:

• Freeman-Sheldon syndrome,
• Sheldon-Hall syndrome,
• Distal arthrogryposis type 1, or
• distal arthrogryposis type 3
• Deceased probands with enough clinical information available to satisfy study requirements
• Probands who participated in a prior Freeman-Sheldon Research Group (FSRG)-study are automatically accepted, since their diagnoses have been confirmed by FSRG clinical faculty.
• Probands with a reported qualifying diagnosis, who have not participated in a prior FSRG-study, will be required to complete the complete a survey from a prior study and provide photographs and any requested medical records to confirm their diagnoses.
• Family members and other close contacts may enrol, so long as they have either resided with or had substantial and prolonged contact with a proband, who has an FSRG-verified qualifying diagnosis. Investigators will make the final decision on a case-by-case basis, based on information provided.

You may not qualify if:

• Patients with other anomalies, not having one of the above syndromes, will not be accepted.
• Deceased probands will not be accepted for analysis, without enough clinical data available to satisfy study data collection requirements.
• Patients or parents of minor children not willing to give consent will not be included.
• Family members or other contacts that neither resided with nor had substantial and prolonged contact with the proband.

Sponsors & Collaborators

• Freeman-Sheldon Research Group, Inc.: lead

Study Sites (2)

Freeman-Sheldon Research Group, Inc. Headquarters

Buckhannon, West Virginia, 26201, United States

Location

San Juan de Dios General Hospital

Guatemala City, Guatemala

Location

Related Publications (12)

• Apajasalo M, Sintonen H, Rautonen J, Kaitila I. Health-related quality of life of patients with genetic skeletal dysplasias. Eur J Pediatr. 1998 Feb;157(2):114-21. doi: 10.1007/s004310050781.

  PMID: 9504784 BACKGROUND

• Didierjean-Pillet A. [Psychological approach to congenital hand deformities. Congenital deformities, the desire to know]. Ann Chir Plast Esthet. 2002 Feb;47(1):2-8. doi: 10.1016/s0294-1260(01)00079-6. French.

  PMID: 11980349 BACKGROUND

• Nagata S, Funakosi S, Amae S, Yoshida S, Ambo H, Kudo A, Yokota A, Ueno T, Matsuoka H, Hayashi Y. Posttraumatic stress disorder in mothers of children who have undergone surgery for congenital disease at a pediatric surgery department. J Pediatr Surg. 2008 Aug;43(8):1480-6. doi: 10.1016/j.jpedsurg.2007.12.055.

  PMID: 18675639 BACKGROUND

• Vitale MG, Choe JC, Vitale MA, Lee FY, Hyman JE, Roye DP Jr. Patient-based outcomes following clubfoot surgery: a 16-year follow-up study. J Pediatr Orthop. 2005 Jul-Aug;25(4):533-8. doi: 10.1097/01.bpo.0000157999.38424.ba.

  PMID: 15958910 BACKGROUND

• Roye BD, Vitale MG, Gelijns AC, Roye DP Jr. Patient-based outcomes after clubfoot surgery. J Pediatr Orthop. 2001 Jan-Feb;21(1):42-9. doi: 10.1097/00004694-200101000-00010.

  PMID: 11176352 BACKGROUND

• Vitale MG, Levy DE, Johnson MG, Gelijns AC, Moskowitz AJ, Roye BP, Verdisco L, Roye DP Jr. Assessment of quality of life in adolescent patients with orthopaedic problems: are adult measures appropriate? J Pediatr Orthop. 2001 Sep-Oct;21(5):622-8.

  PMID: 11521031 BACKGROUND

• Hawkins SS, Radcliffe J. Current measures of PTSD for children and adolescents. J Pediatr Psychol. 2006 May;31(4):420-30. doi: 10.1093/jpepsy/jsj039. Epub 2005 Jun 9.

  PMID: 15947119 BACKGROUND

• McCormick RJ, Poling MI, Portillo AL, Chamberlain RL. Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years. BMJ Case Rep. 2015 Jul 14;2015:bcr2015210935. doi: 10.1136/bcr-2015-210935.

  PMID: 26174733 RESULT

• McCormick RJ, Poling MI, Chamberlain RL. Bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus. BMJ Case Rep. 2015 Jul 15;2015:bcr2015211338. doi: 10.1136/bcr-2015-211338.

  PMID: 26178231 RESULT

• Chamberlain RL, Poling MI, Portillo AL, Morales A, Ramirez RR, McCormick RJ. Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features. BMJ Case Rep. 2015 Oct 22;2015:bcr2015212607. doi: 10.1136/bcr-2015-212607.

  PMID: 26494722 RESULT

• Poling MI, Dufresne CR, Chamberlain RL. Dr Ben Franklin and an unusual modern-day cure for recurrent pleuritis. Br J Gen Pract. 2017 Jan;67(654):32-33. doi: 10.3399/bjgp17X688705. No abstract available.

  PMID: 28034943 RESULT

• Poling MI, Morales Corado JA, Chamberlain RL. Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. Syst Rev. 2017 Mar 6;6(1):46. doi: 10.1186/s13643-017-0444-4.

  PMID: 28264711 RESULT

Biospecimen

Retention: NONE RETAINED

Blood samples will be taken but no retention is expected.

MeSH Terms

Conditions

Arthrogryposis; Craniofacial Abnormalities; Stress Disorders, Post-Traumatic; Depressive Disorder; Depression

Interventions

Multicenter Studies as Topic; Health Records, Personal; Restraint, Physical; Independent Medical Evaluation; Psychometrics; Lactic Acid; Glucose; Hematologic Tests; Adenosine Triphosphate; Glucose Tolerance Test; Blood Glucose

Condition Hierarchy (Ancestors)

Joint Diseases; Musculoskeletal Diseases; Muscular Diseases; Musculoskeletal Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stress Disorders, Traumatic; Trauma and Stressor Related Disorders; Mental Disorders; Mood Disorders; Behavioral Symptoms; Behavior

Intervention Hierarchy (Ancestors)

Epidemiologic Study Characteristics; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Medical Records; Records; Data Collection; Behavior Control; Therapeutics; Immobilization; Psychological Tests; Behavioral Disciplines and Activities; Lactates; Hydroxy Acids; Carboxylic Acids; Organic Chemicals; Hexoses; Monosaccharides; Sugars; Carbohydrates; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Adenine Nucleotides; Purine Nucleotides; Purines; Heterocyclic Compounds, 2-Ring; Heterocyclic Compounds, Fused-Ring; Heterocyclic Compounds; Nucleotides; Nucleic Acids, Nucleotides, and Nucleosides; Ribonucleotides; Blood Chemical Analysis; Clinical Chemistry Tests; Diagnostic Techniques, Endocrine

Study Officials

• Robert L Chamberlain, MD

  Freeman-Sheldon Research Group, Inc.

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 27, 2011
• First Posted: March 3, 2011
• Study Start: February 1, 2011
• Primary Completion: April 1, 2017
• Study Completion: April 1, 2017
• Last Updated: April 4, 2017

Record last verified: 2017-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1); GU (1)