Studies, Papers, and Presentations

Last Modified: 27 Jun 2014

For more information about any current studies, please contact FSRG.

Studies

McCormick RJ, Chamberlain RA, Chamberlain RL, Morales A, Poling MI. Study of Therapeutic Outcomes and Practices in Freeman-Sheldon syndrome (STOP-FSS) I: a Retrospective, Cohort Survey. [UTN: U1111-1120-5851; Active, enrolment open]

Classic FSS, SHS, and DA1 are poorly understood pathological entities within the same clinical syndrome, FSS. Stevenson et al. (2006) provided the only study to date on FSS features and history. They did not, however, focus to any degree on therapeutic outcomes. There is limited anecdotal data in single and multiple case reports. Future STOP-FSS studies will need to address physiological parameters, in an effort to better understand the underlying pathology and pathophysiology, and subsequent studies will need to address and evaluate surgical, pharmacological, and other types of interventions. Prior to any investigation, however, an understanding of the frequency and severity of features and types of therapies currently being pursued must be ascertained. 

The design is a cross-sectional randomised survey and retrospective records review study. The study's objectives are three-fold. The primary objective is to identify the most and least helpful therapeutic modalities and therapeutic modalities that most and least harmful. The secondary objective of the study is to collect better phenotypic data to enhance correlation of phenotype and response to therapy. Enhanced phenotypic characterisation would contribute to improved nosological classification off FSS and related entities. The tertiary objective is to identify areas for further research in therapeutics and diagnosis.

McCormick RJ, Chamberlain RA, Chamberlain RL, Morales A, Poling MI. Quality of Life Survey for Freeman-Sheldon syndrome (QLS-FSS): a Cross-Sectional, Cohort Study of Concomitant Disorder-Specific Contributors to Quality of Life and Clinical Outcomes. [UTN: U1111-1120-5996; Active, enrolment open]

Psychiatric morbidity is significant in patients with congenital deformities, especially those with craniofacial and limb deformities. Freeman-Sheldon syndrome and related entities present with both craniofacial and limb deformities; however, no quality of life survey (QLS) has been developed for this patient population. It has been shown previously disorder specific QLSs are important therapeutic tools to assess efficacy of and prioritise interventions. Disorder specific QLSs are preferred over general QLSs, as both sensitivity and specificity are increased, Results of disorder-specific QLSs are important predictors of clinical outcome. improving their clinical utility. This study aims to validate the FSRG-QLS, by comparing answers with actual clinical outcomes and concurrently completed general QLSs. 

McCormick RJ, Chamberlain RA, Chamberlain RL, Morales A, Poling MI. Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters. [UTN: U1111-1120-5931; Active, enrolment open]

Freeman-Sheldon syndrome is a rare congenital global human neuromusculoskeletal syndrome, involving primarily limb and craniofacial deformities. There are no studies that have addressed physiological parameters, which are required in order to better understand the underlying pathology and pathophysiology of Freeman-Sheldon syndrome and related entities. Elucidating any deviations in baseline and stress physiological parameters in FSS patients versus standard normal values and normal control subjects is of critical importance in tailoring therapeutic interventions to this challenging patient population. This study presents baseline and stress data from electrocardigraphy, peripheral oxygen saturation, spirometery, lactate and adenosine triphosphate levels, and oxygen ventilation. 

McCormick RJ, Chamberlain RL, Morales A, Poling MI. Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) II: a Cross-Sectional, Cohort Study of Origin of Idiopathic Hyperpyrexia. [
in preparation]

McCormick RJ, Chamberlain RL, Morales A, Poling MI. Trial Round and Management Protocols in Freeman-Sheldon syndrome (TRAMP-FSS) I: a Cross-Sectional, Cohort Study of Novel Physiotherapy and Pharmaceutical Interventions. [
in preparation]

Cabrera J, Páez M, Morales A, Poling MI, Flores B, Flores L, Vargas A. Novel Intron 9 Splicing Acid Alpha-Glucosidase Gene Mutation: Correlation to an Aggressive Classic Infantile-Onset Phenotype of Glycogen Storage Disease Type II. [Completed]

McCormick RJ, Buskirk ER, Poling MI. Heat Tolerance of Exercising Lean and Obese Middle-Aged Men. [UTN: U1111-1120-6134; Completed] 

Poling MI, McCormick RJ. Exploration of Bipolar Disorder in Rural Adolescents with the Mood Disorder Questionnaire. [IRB Protocol Number: 000027; Completed]

Papers and Abstracts

Chamberlain RL, Ramirez R, Portillo AL, McCormick RJ, Poling MI, de Courten JF. Freeman-Sheldon Syndrome and Related Entities: Evaluation and Biopsychosocial Management Guidelines. [in preparation]

Freeman-Sheldon syndrome is a highly variable spectrum of related pathological entities about which relatively little is known and guidance absent. This guideline, the product of exhaustive literature review and many years of clinical experience, aims to address the deficiency by providing basic protocols for evaluation and management of deformities and limitations,  through physiological investigation and rehabilitative (non-operative) and reconstructive (operative) interventions, with the goal of improving quality of life and reducing morbidity and mortality in patients with Freeman-Sheldon syndrome and related entities.

Portillo AL, McCormick RJ, Chamberlain RL, Poling MI. Histopathological and Operative Findings in a Severe Case of Freeman-Sheldon Syndrome: Implications for Nosology and Therapy. [in preparation]

Described is the most severe case of Freeman-Sheldon (or 'whistling-face') syndrome reported and the first case within West Virginia, USA. Freeman-Sheldon syndrome has been described as a type of distal arthrogryposis and a non-progressive myopathy, but neither nosological classification considers the multiple anatomical and physiological findings. Likely under-diagnosed pathological entity, FSS is best considered a rare congenital global human neuromusculoskeletal syndrome, involving primarily limb and craniofacial deformities. Clinical diagnosis requires the following: multiple contractures of the hands and feet, microstomia, whistling-face appearance, H-shaped chin dimpling, and nasolabial folds. Spinal deformities, metabolic and gastroenterological problems, other dysmorphic craniofacial characteristics, visual, and auditory impairments are frequent findings. Intelligence is above average; developmental delay results from physical deformities. Differential diagnoses includes: Sheldon-Hall syndrome, distal arthrogryposis multiplex congenita, Gorden syndrome, Pièrre-Robin sequence, and isolated non-syndromic deformities. Inheritance is autosomal dominant or recessive, but expression is frequently from new allelic variation. Prenatal diagnosis can be achieved via ultrasound or mutation analysis. Perinatal and neonatal complications are typically most severe and become less as the infant ages; thus, the implications for pre-natal diagnosis and planning for neonatal management are significant. Environmental and parental factors are not implicated in pathogenesis. Malignant hyperthermia and difficult endotracheal intubations complicate surgery, but with early and aggressive intervention, excellent outcomes can be achieved with a combination of surgery and physiotherapy. New histopathological and operative findings are described. Literature is reviewed and novel recommendations for evaluation and management given. Important implication exist for neonatologists, paediatricians, and plastic surgeons regarding this likely under-diagnosed syndrome.

McCormick RJ, Poling MI. Operating Otoscope for Oral Examination of Patients with Difficult Oral Access. [in preparation]

Poling MI. Medical Ministry as Our Heritage and Our Calling. [in preparation]

There is Scriptural evidence for the holiness of body and soul, so it follows that one of the Church’s foremost goals is to attend to the health of the people—physical, mental, social, and spiritual. All mainline Christian denominations have a heritage of medical ministry, but focusing on Rev. John Wesley, only the United Methodist Church will be discussed in this paper. Wesley is an important figure in medical ministry for the following reasons: (1) as a public health advocate; (2) as a mental health professional; (3) as a physician; (4) as a medical researcher; (5) as a healthcare administrator; and (6) as a prolific medical author. The Scriptural basis for medical ministry will be examined. Particular attention will be paid to the Methodist involvement, from its genesis, in medical ministry; less emphasis will be paid to emerging challenges for the Church’s medical ministry, including possible pandemic avian influenza and other public health issues.

McCormick RJ, Poling MI. Prayer as a Therapeutic Modality: From Faith out of Desperation to Faith Through Understanding. [in preparation]

Poling MI. Craniocarpotarsal Dysplasia (Freeman-Sheldon syndrome): A Comprehensive Case Study. [ABSTRACT] Presented at: Appalachian Undergraduate Research and Creative Arts Conference, Davis & Elkins College, Elkins, WV. 23 Apr. 2005.

Presentations

Poling MI, Ramirez R. Distal arthrogryposis, type 2A: Freeman-Sheldon syndrome: Review, case presentation, and treatment protocols. Paediatric Residents' 2009 Noon Conference at Robert C. Byrd Health Sciences Centre, West Virginia University School of Medicine, Morgantown. 13 Dec. 2006.

Poling MI. Craniocarpotarsal Dysplasia (Freeman-Sheldon syndrome): A Comprehensive Case Study. Presented at: Appalachian Undergraduate Research and Creative Arts Conference, Davis & Elkins College, Elkins, WV. 23 Apr. 2005.

Poling MI. Craniocarpotarsal Dysplasia (Freeman-Sheldon syndrome): A Comprehensive Case Study. Presented at: Mid-Atlantic Undergraduate Research Conference, WVWC. 2 Apr. 2005.