A month later, at a face-to-face meeting, the results of the survey and the literature review were presented.
Respondents rated the statements using a 5-point Likert scale (Strongly Agree, Agree, Neutral, Disagree, and Strongly Disagree). The first electronic survey consisted of 26 statements and was distributed with the referenced literature search to a panel of international experts in September 2017 (round 1) (Table 1). The primary author (R.S.) created statements based on systematic literature review that were evaluated by the authors who edited the list. The Delphi methodology has been widely used in medical research to determine appropriate treatment and best practice guidelines, 4, 5, 6 and has been successfully used by this group previously. 2, 3 The group of clinicians who participated in this study have an average 20 years of experience in treating patients with type II collagen disorders (range 13–43 years), and manage over 500 patients with these conditions. This methodology consists of a systematic literature review, creation of a list of statements, multiple rounds vetting those statements, and a face-to-face meeting where these indications are rated anonymously by a group of experts. These expert guidelines aim to make relevant health-care professionals aware of these rare conditions, and their associated clinical manifestations, to assist them in optimizing patient outcomes through best” practice, including medical and surgical management, and genetic counseling.Ī RAND-UCLA modified Delphi method was used to create consensus-based guidelines for the treatment and management of patients with type II collagen disorders. The hallmarks of classic type II collagen disorders include disproportionate short stature, skeletal dysplasia, distinctive eye abnormalities, cleft palate, small jaw, and hearing loss, however, there is remarkable variability in disease presentation, and the clinical spectrum of COL2A1 variants extends from perinatal lethal to isolated joint disease (arthritis). 1 Variants in the gene encoding type II collagen ( COL2A1) give rise to a variety of clinical phenotypes ranging from severe perinatal lethal disorders that present antenatally to milder conditions that present in the postnatal period and childhood. The skeletal dysplasias comprise a large, heterogeneous, and collectively common group of inherited disorders that affect development, growth, and maintenance of cartilage and bone. ConclusionsĬonsensus-based, expert best practice guidelines developed as a standard of care to assist accurate diagnosis, minimize associated health risks, and improve clinical outcomes for patients with type II collagen skeletal dysplasias. After the panel discussion, the group reached consensus on 22 of 24 revised statements (92%). ResultsĪfter the first voting round, consensus was reached to support 12 of 26 (46%) statements. Those recommendations with more than 80% agreement were considered as consensual. MethodsĪ panel of 11 multidisciplinary international experts in the field of skeletal dysplasia participated in a Delphi process, which comprised analysis of a thorough literature review with subsequent generation of 26 diagnosis and care recommendations, followed by two rounds of anonymous voting with an intervening face-to-face meeting. This study presents expert guidelines developed to improve the diagnosis and management of patients with type II collagen skeletal disorders to optimize clinical outcomes. Because of their relative rarity and wide phenotypic variability, patients should be accurately identified, uniformly assessed, and managed by clinicians who are aware of their potential complications and possess the knowledge and resources to treat them effectively. 18p deletion syndrome - 18q deletion syndrome - 22q11.Skeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the human skeleton.
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