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

NCT05419245 | Unknown

• 1 other identifier: U1111-1120-5851
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

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

Keywords

craniofacial abnormalities; arthrogryposis; rehabilitation; surgery; therapy; health status; quality of life; patient reported outcome; health-related quality of life; depressive symptoms

Outcome Measures

Primary Outcomes (2)

• 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

• 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 Outcomes (6)

• Difference in posttraumatic stress disorder symptoms between groups

  1 week to 1 day before a single study interview, which lasts 1-2 hours

• Difference in depressive symptoms between groups

  1 week to 1 day before a single study interview, which lasts 1-2 hours

• Difference in quality-of-life between groups

  1 week to 1 day before a single study interview, which lasts 1-2 hours

• Difference in facial appearance satisfaction between groups

  1 week to 1 day before a single study interview, which lasts 1-2 hours

• Difference in facial appearance distress between groups

  1 week to 1 day before a single study interview, which lasts 1-2 hours

Other Outcomes (11)

• 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)

  During a single study interview, which lasts 1-2 hours

• Difference in head and face (craniofacial) surgery-related outcome rates between groups

  During a single study interview, which lasts 1-2 hours

• Difference in spine surgery-related outcome rates between groups

  During a single study interview, which lasts 1-2 hours

Study Arms (6)

Freeman-Sheldon syndrome Classic Type

Patients who have all features required by the Stevenson criteria, including: very small mouth (microstomia); whistling-face appearance (pursed lips); "H" or "V" shaped chin dimple; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.

Other: Guided Health History for Freeman-Burian Syndrome Questionnaire; Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview; Other: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems; Other: FACE-Q | Craniofacial - Appearance of the Face; Other: FACE-Q | Craniofacial - Appearance Distress; Other: FACE-Q | Craniofacial - Facial Function

Freeman-Sheldon syndrome Craniofacial Type

Patients who have only the face and skull physical findings required by the Stevenson criteria, including: very small mouth (microstomia), whistling-face appearance (pursed lips), "H" or "V" shaped chin dimple, very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases).

Other: Guided Health History for Freeman-Burian Syndrome Questionnaire; Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview; Other: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems; Other: FACE-Q | Craniofacial - Appearance of the Face; Other: FACE-Q | Craniofacial - Appearance Distress; Other: FACE-Q | Craniofacial - Facial Function

Freeman-Sheldon syndrome Mixed Type

Patients who have the face and skull physical findings required by the Stevenson criteria and some but not all required joint problems.

Other: Guided Health History for Freeman-Burian Syndrome Questionnaire; Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview; Other: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems; Other: FACE-Q | Craniofacial - Appearance of the Face; Other: FACE-Q | Craniofacial - Appearance Distress; Other: FACE-Q | Craniofacial - Facial Function

Sheldon-Hall syndrome

Patients who have all features required by the Stevenson criteria, including: small mouth (not microstomia); neck webbing (pterygium colli); small but prominent chin; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.

Other: Guided Health History for Freeman-Burian Syndrome Questionnaire; Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview; Other: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems; Other: FACE-Q | Craniofacial - Appearance of the Face; Other: FACE-Q | Craniofacial - Appearance Distress; Other: FACE-Q | Craniofacial - Facial Function

Distal Arthrogryposis Type 1

Patients with features consistent with this diagnosis, including restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.

Other: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems

Distal Arthrogryposis Type 3

Patients with features consistent with this diagnosis, including: gap in the roof of the mouth (cleft palate); drooping eyelid (blepharoptosis); and spine curve problems; and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.

Other: Medical Records Review; Other: PTSD Checklist for DSM-5; Other: Modified Flanagan Quality of Life Scale; Other: Center for Epidemiologic Studies Depression Scale; Other: Review of Systems; Other: FACE-Q | Craniofacial - Appearance of the Face; Other: FACE-Q | Craniofacial - Appearance Distress; Other: FACE-Q | Craniofacial - Facial Function

Interventions

Guided Health History for Freeman-Burian Syndrome Questionnaire OTHER

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-Sheldon syndrome Classic Type; Freeman-Sheldon syndrome Craniofacial Type; Freeman-Sheldon syndrome Mixed Type; Sheldon-Hall syndrome

Freeman-Burian syndrome Semi-Structured Quality of Life Interview OTHER

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.

Freeman-Sheldon syndrome Classic Type; Freeman-Sheldon syndrome Craniofacial Type; Freeman-Sheldon syndrome Mixed Type; Sheldon-Hall syndrome

Medical Records Review OTHER

Review of medical records will be used, along with Guided Health History for Freeman-Burian Syndrome Questionnaire to assess patient histories and outcomes.

Also known as: treatment records review, review of patient notes, patient chart review, review of clinical data

Distal Arthrogryposis Type 1; Distal Arthrogryposis Type 3; Freeman-Sheldon syndrome Classic Type; Freeman-Sheldon syndrome Craniofacial Type; Freeman-Sheldon syndrome Mixed Type; Sheldon-Hall syndrome

PTSD Checklist for DSM-5 OTHER

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.

Distal Arthrogryposis Type 1; Distal Arthrogryposis Type 3; Freeman-Sheldon syndrome Classic Type; Freeman-Sheldon syndrome Craniofacial Type; Freeman-Sheldon syndrome Mixed Type; Sheldon-Hall syndrome

Modified Flanagan Quality of Life Scale OTHER

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.

Distal Arthrogryposis Type 1; Distal Arthrogryposis Type 3; Freeman-Sheldon syndrome Classic Type; Freeman-Sheldon syndrome Craniofacial Type; Freeman-Sheldon syndrome Mixed Type; Sheldon-Hall syndrome

Center for Epidemiologic Studies Depression Scale OTHER

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.

Distal Arthrogryposis Type 1; Distal Arthrogryposis Type 3; Freeman-Sheldon syndrome Classic Type; Freeman-Sheldon syndrome Craniofacial Type; Freeman-Sheldon syndrome Mixed Type; Sheldon-Hall syndrome

Review of Systems OTHER

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

Also known as: health history, medical history

Distal Arthrogryposis Type 1; Distal Arthrogryposis Type 3; Freeman-Sheldon syndrome Classic Type; Freeman-Sheldon syndrome Craniofacial Type; Freeman-Sheldon syndrome Mixed Type; Sheldon-Hall syndrome

FACE-Q | Craniofacial - Appearance of the Face OTHER

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.

Distal Arthrogryposis Type 3; Freeman-Sheldon syndrome Classic Type; Freeman-Sheldon syndrome Craniofacial Type; Freeman-Sheldon syndrome Mixed Type; Sheldon-Hall syndrome

FACE-Q | Craniofacial - Appearance Distress OTHER

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.

Distal Arthrogryposis Type 3; Freeman-Sheldon syndrome Classic Type; Freeman-Sheldon syndrome Craniofacial Type; Freeman-Sheldon syndrome Mixed Type; Sheldon-Hall syndrome

FACE-Q | Craniofacial - Facial Function OTHER

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.

Distal Arthrogryposis Type 3; Freeman-Sheldon syndrome Classic Type; Freeman-Sheldon syndrome Craniofacial Type; Freeman-Sheldon syndrome Mixed Type; Sheldon-Hall syndrome

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

There are no patient enrollment restrictions based on gender, ethnicity, religion, socio-economic status, geographical location, or clinical setting.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Dufresne, Craig, MD, PC: lead

Study Sites (1)

Office of Craig R Dufresne, MD, PC

Fairfax, Virginia, 22031, United States

RECRUITING

Related Publications (24)

• 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 BACKGROUND

• 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.

  PMID: 29370530 BACKGROUND

• 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.

  PMID: 30400128 BACKGROUND

• 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.

  PMID: 30630514 BACKGROUND

• 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.

  PMID: 31133050 BACKGROUND

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

  BACKGROUND

• 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.

  PMID: 31567769 BACKGROUND

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

  BACKGROUND

• 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.

  PMID: 31985597 BACKGROUND

• 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.

  PMID: 32149971 BACKGROUND

• 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.

  PMID: 32714615 BACKGROUND

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

  BACKGROUND

• 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. No abstract available.

  PMID: 33152847 BACKGROUND

• 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

  BACKGROUND

• 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

  BACKGROUND

• 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

  BACKGROUND

• 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. No abstract available.

  PMID: 35484845 BACKGROUND

• 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

  BACKGROUND

• 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.

  BACKGROUND

• 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.

  BACKGROUND

• 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.

  BACKGROUND

• 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.

  BACKGROUND

• 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 BACKGROUND

• Poling MI, Dufresne CR. Re: "Periocular Anomalies in Freeman-Sheldon Syndrome". Ophthalmic Plast Reconstr Surg. 2022 Nov-Dec 01;38(6):609-610. doi: 10.1097/IOP.0000000000002307. Epub 2021 Nov 4. No abstract available.

  PMID: 36326430 BACKGROUND

Related Links

• Principal Investigator's (Dr Craig R Dufresne) Research and Press Relations main webpage. Last Accessed: 7 Jun 2022
• "Freeman-Sheldon Syndrome" from the National Organization for Rare Disorders. Last Accessed: 10 Sept 2021
• 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

MeSH Terms

Conditions

Freeman-Sheldon syndrome; Distal arthrogryposis type 2B; Digitotalar Dysmorphism; Pseudohypoaldosteronism; Gordon syndrome; Craniofacial Abnormalities; Arthrogryposis; Depression

Interventions

Multicenter Studies as Topic; Health Records, Personal

Condition Hierarchy (Ancestors)

Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Congenital Abnormalities; Joint Diseases; Muscular Diseases; 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

Study Officials

• Craig R Dufresne, MD

  Dr Craig R Dufresne, MD, PC

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mikaela I Poling, BA

CONTACT

3044609038; research@duplastics.com

Craig R Dufresne, MD

CONTACT

7032073065; info@duplastics.com

Study Design

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

Study Record Dates

• First Submitted: June 3, 2022
• First Posted: June 15, 2022
• Study Start: June 1, 2022
• Primary Completion: December 1, 2023
• Study Completion: December 1, 2023
• Last Updated: July 19, 2022

Record last verified: 2022-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)