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

Arthrogryposis Distal Type 1 Clinical Trial

— FINDFSS  

Official title:

Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes: a Cross-sectional, Non-randomized Study

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05419245
• Other study ID #: U1111-1120-5851
• Status: Recruiting
• Start date: June 1, 2022
• Est. completion date: December 2023

Study information

• Verified date: July 2022
• Source: Dufresne, Craig, MD, PC
• Contact: Mikaela I Poling, BA
• Phone: 3044609038
• Email: research[@]duplastics.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Description:

According to the only study of patients and a recent study of individual case reports, Freeman-Burian syndrome (FBS) may be over-diagnosed by 33-66%, and it is most often confused with Sheldon-Hall syndrome and distal arthrogryposis (DA) types 3 and 1. Unfortunately, while these conditions are different from FBS, many think of them as being less severe versions of FBS. This is not true. FBS is a skull and face syndrome, while Sheldon-Hall syndrome and DA types 1 and 3 are syndromes of the arms, legs, hands, and feet that (except DA type 1) may have mild face deformities. It is important to understand this difference, FBS does not respond well to treatment. The other syndromes generally do respond well to treatment. To improve diagnosis and treatment, it is important to understand factors contributing to an accurate diagnosis and treatment outcome. To provide better evidence for these being very different syndromes, it also is important to compare the above areas of health between people with all of these syndromes. It is hoped the study will help improve treatment and identify areas for further research.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 20
• Est. completion date: December 2023
• Est. primary completion date: December 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Patients who are able to provide informed consent or have a legally appointed representative who is able to provide informed consent

• Patients who have Freeman-Burian syndrome (formerly, Freeman-Sheldon syndrome), Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3

• Persons who speak and read English, German, Russian, or Czech

Exclusion Criteria:

• Patients who are not able to provide informed consent or do not have a legally appointed representative who is able to provide informed consent

• Patients who do not have Freeman-Burian syndrome (formerly, Freeman-Sheldon syndrome), Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3

• Persons who do not speak or read English, German, Russian, or Czech

Related Conditions & MeSH terms

• Arthrogryposis
• Arthrogryposis Distal Type 1
• Arthrogryposis Distal Type 3
• Freeman-Sheldon Syndrome
• Freeman-Sheldon Syndrome Variant
• Gordon Syndrome
• Sheldon-Hall Syndrome
• Syndrome
• Whistling Face Syndrome

Intervention

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.
• 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.
• 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.
• 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.
• 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.
• 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.
• Review of Systems
Completed during the interview. A review of systems is a checklist of medical problems.
• 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.
• 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.
• 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.

Locations

Country	Name	City	State
United States	Office of Craig R Dufresne, MD, PC	Fairfax	Virginia

Sponsors (1)

Lead Sponsor	Collaborator
Dufresne, Craig, MD, PC

Country where clinical trial is conducted

United States, 

References & Publications (25)

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. — View Citation

Poling MI, Dufresne CR, Chamberlain RL. Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. J Craniofac Surg. 2020 Jun;31(4):1063-1069. doi: 10.1097/SCS.0000000000006299. — View Citation

Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian syndrome. Orphanet J Rare Dis. 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. Review. — View Citation

Poling MI, Dufresne CR, McCormick RJ. Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment. J Pediatr Genet. 2020 Sep;9(3):158-163. doi: 10.1055/s-0040-1710339. Epub 2020 May 7. Review. — View Citation

Poling MI, Dufresne CR, Portillo AL. Identification and Recent Approaches for Evaluation, Operative Counseling, and Management in Patients With Freeman-Burian Syndrome: Principles for Global Treatment. J Craniofac Surg. 2019 Nov-Dec;30(8):2502-2508. doi: 10.1097/SCS.0000000000005968. — View Citation

Poling MI, Dufresne CR. Accuracy of facts about Freeman-Sheldon syndrome. Clinical and Experimental Obstetrics and Gynecolology. 2021; 48(5): 997-998. doi: 10.31083/j.ceog4805160

Poling MI, Dufresne CR. Anaesthesia recommendations for Sheldon-Hall syndrome. OrphanAnesthesia. 20 Feb 2019. Available at: https://www.orphananesthesia.eu/en/rare-diseases/published-guidelines/cat_view/61-rare-diseases/60-published-guidelines/237-sheldon-hall-syndrome.html

Poling MI, Dufresne CR. Clarity on Diagnosis in Freeman-Burian syndrome. Turkiye Klinikleri Journal of Case Reports. doi: 10.5336/caserep.2022-88270 [In Press] Available online: 17 February 2022. Available at: https://www.turkiyeklinikleri.com/inpress_article/en-clarity-on-diagnosis-in-freeman-burian-syndrome-97915.html

Poling MI, Dufresne CR. Diagnosis, evaluation, and treatment in Freeman-Burian syndrome: clinical practice guideline for a rare and complex craniofacial syndrome. Craniomaxillofacial Abstracts Presented at 78th Annual Meeting of the American Cleft Palate Craniofacial Meeting. FACE. 2021; 2(4): NP3. doi: 10.1177/27325016211049488

Poling MI, Dufresne CR. Distal arthrogryposis type 3. Anasthesiologie und Intensivmedizin. 2019; 60(13): S536-S543. doi: 10.19224/ai2019.s536.

Poling MI, Dufresne CR. Epidemiology, prevention, diagnosis, treatment, and outcomes for psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions: a systematic review protocol of qualitative data. Syst Rev. 2019 May 27;8(1):127. doi: 10.1186/s13643-019-1045-1. — View Citation

Poling MI, Dufresne CR. Freeman-Burian syndrome. Anasthesiologie und Intensivmedizin. 2019; 60(1): S8-S17. doi: 10.19224/ai2019.S008

Poling MI, Dufresne CR. Head First, Not Feet First: Freeman-Sheldon Syndrome as Primarily a Craniofacial Condition. Cleft Palate Craniofac J. 2018 May;55(5):787-788. doi: 10.1177/1055665617753482. Epub 2018 Jan 25. — View Citation

Poling MI, Dufresne CR. Identification and Recent Approaches for Evaluation and Management of Dentofacial and Otolaryngologic Concerns for Patients With Freeman-Burian Syndrome: Principles for Global Treatment. J Craniofac Surg. 2020 May/Jun;31(3):787-790. doi: 10.1097/SCS.0000000000006155. — View Citation

Poling MI, Dufresne CR. Letter. AANA Journal. 2020; 88(5): 54.

Poling MI, Dufresne CR. Letter: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70). Ann Rehabil Med. 2020 Oct;44(5):409-410. doi: 10.5535/arm.20110. Epub 2020 Oct 29. — View Citation

Poling MI, Dufresne CR. Limb Deformity Treatment and Diagnosis in Freeman-Burian syndrome. Version: 1. Authorea [preprint]. January 31, 2022. doi: 10.22541/au.164366820.05370920/v1.

Poling MI, Dufresne CR. Misinformation and Misdiagnosis in Freeman-Burian syndrome. Version: 1. Authorea [preprint]. January 31, 2022. doi: 10.22541/au.164366815.52860865/v1.

Poling MI, Dufresne CR. Obstetrics and Diagnosis in Freeman-Burian syndrome. Version: 1. Authorea [preprint]. January 31, 2022. doi: 10.22541/au.164366820.09260728/v1.

Poling MI, Dufresne CR. Oculoplastic surgery, diagnosis, and other matters in Freeman-Burian syndrome. Ophthalmic Genet. 2022 Jun;43(3):431-432. doi: 10.1080/13816810.2022.2068043. Epub 2022 Apr 28. — View Citation

Poling MI, Dufresne CR. Reply re: Periocular Anomalies in Freeman-Sheldon Syndrome. Version: 1. Authorea [preprint]. July 01, 2022. doi: 10.22541/au.165668902.20562659/v1

Poling MI, Dufresne CR. Revisiting the Many Names of Freeman-Sheldon Syndrome. J Craniofac Surg. 2018 Nov;29(8):2176-2178. doi: 10.1097/SCS.0000000000004802. — View Citation

Poling MI, Dufresne CR. The epidemiology, prevention, diagnosis, treatment, and outcomes of psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions. In: PROSPERO [Internet]. York, UK: Centre for Reviews and Dissemination University of York; 2018. Available from: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42018093021. Other: CRD42018093021.

Poling MI, Dufresne CR. Unsafe Care and Misunderstanding Diagnosis in Freeman-Burian syndrome: Problems in Writing Case Reports Involving Rare Conditions and Strategies for Improvement. Authorea. January 24, 2022. doi: 10.22541/au.164303994.43963430/v1.

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. — View Citation

* Note: There are 25 references in all — Click here to view all references

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Difference in diagnostic accuracy between specialities between all sub-types of Freeman-Burian syndrome and the other diagnosis groups (Sheldon-Hall syndrome, distal arthrogryposis type 3, and distal arthrogryposis type 1)	Diagnostic accuracy is the percent of patients with a stated diagnosis re-screened by study investigators with the same diagnosis. Specialities include: orthopedics, plastic surgery, anesthesia, pediatrics, and medical genetics. Diagnostic information is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire and Medical Records Review.	During a single study interview, which lasts 1-2 hours
Other	Difference in head and face (craniofacial) surgery-related outcome rates between groups	Outcomes for all head and face (craniofacial) surgeries are rated as either acceptable, unacceptable, or harmful/potentially harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.	During a single study interview, which lasts 1-2 hours
Other	Difference in spine surgery-related outcome rates between groups	Outcomes for all spine surgeries are rated as either acceptable, unacceptable, or harmful/potentially harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.	During a single study interview, which lasts 1-2 hours
Other	Difference in foot and ankle surgery-related outcome rates between groups	Outcomes for all foot and ankle surgeries are rated as either acceptable, unacceptable, or harmful/potentially harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.	During a single study interview, which lasts 1-2 hours
Other	Difference in hand and wrist surgery-related outcome rates between groups	Outcomes for all hand and wrist surgeries are rated as either acceptable, unacceptable, or harmful/potentially harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.	During a single study interview, which lasts 1-2 hours
Other	Difference in other bone and joint surgery-related outcome rates between groups	Outcomes for other bone and joint surgeries are rated as either acceptable, unacceptable, or harmful/potentially harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.	During a single study interview, which lasts 1-2 hours
Other	Difference in general anesthesia-related complication rates between groups	The course of general anesthesia-related is rated as either routine, minor, complication, major complication, or failure. Information related to complications of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.	During a single study interview, which lasts 1-2 hours
Other	Difference in respiratory-related complication rates between groups	Respiratory-related complications are assessed using the Guided Health History for Freeman-Burian Syndrome Questionnaire. Additional information on physical findings is collected using the Review of Systems forms and from the Medical Records Review.	During a single study interview, which lasts 1-2 hours
Other	Difference in rates of difficulty eating (chewing and swallowing) between groups	Difficulty eating (chewing and swallowing) is assessed using the Guided Health History for Freeman-Burian Syndrome Questionnaire. Additional information on physical findings is collected using the Review of Systems forms and from the Medical Records Review.	During a single study interview, which lasts 1-2 hours
Other	Difference in rates of difficulty walking between groups	Difficulty walking is assessed using the Guided Health History for Freeman-Burian Syndrome Questionnaire. Additional information on physical findings is collected using the Review of Systems forms and from the Medical Records Review.	During a single study interview, which lasts 1-2 hours
Other	Qualitative difference in quality of life between groups	Qualitative assessment is done using the Freeman-Burian syndrome Semi-Structured Quality of Life Interview, a guided interview consisting of open-ended questions.	During a single study interview, which lasts 1-2 hours
Primary	Difference in intervention-related outcome rates between groups	Outcomes for all interventions are rated as either acceptable, unacceptable, or potentially harmful/harmful. Information related to outcomes of interventions is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire, Review of Systems forms, and Medical Records Review.	During a single study interview, which lasts 1-2 hours
Primary	Difference in diagnostic accuracy between groups	This is the percent of patients with a stated diagnosis re-screened by study investigators with the same diagnosis. Diagnostic information is collected using the Guided Health History for Freeman-Burian Syndrome Questionnaire and Medical Records Review.	During a single study interview, which lasts 1-2 hours
Secondary	Difference in posttraumatic stress disorder symptoms between groups	Posttraumatic stress symptoms are assessed using the self-completed and validated PTSD Checklist for DSM-5, a 20-item questionnaire; each item is rated 0-4, with 0 being "Not at all" and 4 being "Extremely".	1 week to 1 day before a single study interview, which lasts 1-2 hours
Secondary	Difference in depressive symptoms between groups	Depressive symptoms are assessed using the self-completed and validated Center for Epidemiologic Studies Depression Scale.	1 week to 1 day before a single study interview, which lasts 1-2 hours
Secondary	Difference in quality-of-life between groups	Quality-of-life is scored using the self-completed Modified Flanagan Quality of Life Scale.	1 week to 1 day before a single study interview, which lasts 1-2 hours
Secondary	Difference in facial appearance satisfaction between groups	Facial appearance satisfaction is scored using the self-completed FACE-Q | Craniofacial - Appearance of the Face.	1 week to 1 day before a single study interview, which lasts 1-2 hours
Secondary	Difference in facial appearance distress between groups	Facial appearance distress is scored using the self-completed FACE-Q | Craniofacial - Appearance Distress.	1 week to 1 day before a single study interview, which lasts 1-2 hours
Secondary	Difference in facial muscle functioning symptoms between groups	Facial muscle functioning symptoms are scored using the self-completed FACE-Q | Craniofacial - Facial Function.	1 week to 1 day before a single study interview, which lasts 1-2 hours

External Links

•   "Freeman-Sheldon Syndrome" from the National Organization for Rare Disorders. Last Accessed: 10 Sept 2021
•   Principal Investigator's (Dr Craig R Dufresne) Research and Press Relations main webpage. Last Accessed: 7 Jun 2022
•   Video about Freeman-Burian syndrome (previously known as Freeman-Sheldon syndrome) hosted by Genetic Alliance and presented by the Principal Investigator and Sub-Investigator (Craig R Dufresne and MI Poling). Last Accessed: 7 Jun 2022