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

Abstract

BackgroundFreeman-Sheldon and Sheldon-Hall syndromes (FSS and SHS) and distal arthrogryposis types 1 and 3 (DA1 and DA3) are rare, often confused, congenital syndromes. Few studies exist. With reported diagnosis unreliable, it would be scientifically inappropriate to consider articles describing FSS, SHS, DA1, or DA3, unless diagnoses were independently verified, rendering conventional systematic review and meta-analysis methodology inappropriate and necessitating patient-level data analysis (PROSPERO: CRD42015024740).Methods/designAs part of a clinical practise guideline development process, we evaluate (1) diagnostic accuracy from 1938–2017, using the Stevenson criteria; (2) the most common physical findings, possible frequency clusters, and complications of physical findings amongst patients with FSS; and (3) treatment types and outcomes. All papers reporting diagnosis of FSS, SHS, DA1, and DA3 are included in searching PubMed and Google Scholar from December 2014 to July 2015 and again before final analyses. Patients with FSS are divided into four phenotype-defined sub-types; all patients are grouped by published diagnosis and medical speciality. Significance of physical findings and historical data is evaluated by chi-square. Associations of physical findings and history with diagnosis and treatment outcome are evaluated by Pearson correlation and linear regression analysis. Two-tailed alpha level of 0.05 is used throughout.DiscussionThe need for detailed patient-level data extraction may limit the types of articles included and questions able to be answered. For treatment and psychosocial health outcomes, we anticipate enhanced difficulties, which may limit significance, power, and results’ usability. We hope to outline knowledge gaps and prioritise areas for clinical investigation.Systematic review registration number CRD42015024740 Universal Trial Number: U1111-1172-4670Electronic supplementary materialThe online version of this article (doi:10.1186/s13643-017-0444-4) contains supplementary material, which is available to authorized users.

Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman–Burian Syndrome: Principles for Global Treatment

“…The protocol for the systematic review upon which this discussion of rehabilitation-related topics is based has been completed as part of the unfunded FBS clinical practice guideline development process, received Institutional Review Board approval from FSRG IRB #1 (UTN: U1111-1172-4670), was registered on PROSPERO (CRD42015024740), and published elsewhere. 21 A comprehensive review of FBS is beyond the scope of this discussion. As part of this decadelong effort to clarify the descriptor, 1 definition, classification, 2 and clinical care framework for FBS, broad, 17 and focused [18][19][20] discussions, and a meta-analysis 22 covering FBS have been published.…”

Distal Arthrogryposis and Lethal Congenital Contracture Syndrome – An Overview

“…The range and severity of these features can vary from patient to patient. Usually, the patient's intelligence is unaffected and mostly normal (Poling et al, 2017). Other clinical features include rigid fingers, bilateral congenital clubfoot, constrained horizontal and vertical eye movements, inflexible back, stiff walk, anteverted slouched shoulders, and pectus excavatum (Schrander-Stumpel et al, 1993).…”

“…Distal Arthrogryposis Type 1 sometimes overlaps with a disorder called FSS owing to the similarity of respective clinical features ( Gurnett et al, 2010 ; Alvarado et al, 2011 ; Beck et al, 2013 ; Wang et al, 2016 ; Jin et al, 2017 ; Poling et al, 2017 ). The prevalence of DA is estimated to be ∼1 in every 3,000 people worldwide ( Hall et al, 1982 ; Bamshad et al, 1996 ; Beals, 2005 ), and it is more common than other types.…”

Nonoperative Orthodontic Therapy for Retrognathia and Finding of Sella Turcica Bridging in a 16-Year-Old Girl With Freeman-Burian Syndrome

“…We delineate an approach to nonoperative orthodontic treatment for FBS is discussed, in the context of a case presentation of a 16-year-old girl (Figures 1 –6 and Supplemental Data Figure 1 and Table 1) treated for retrognathia associated with FBS. Literature reviewed originates from 2 larger systematic reviews, whose methodologies and search strategies have been published elsewhere (Poling, Morales Corado, Chamberlain, 2017; Poling and Morales Corado, 2015; Poling and Dufresne, 2018c), and we have published a more comprehensive narrative review elsewhere (Poling, Dufresne, and Chamerlain, 2019).…”