TY - JOUR
T1 - Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders
AU - on behalf of the Skeletal Dysplasia Management Consortium
AU - Savarirayan, Ravi
AU - Bompadre, Viviana
AU - Bober, Michael B.
AU - Cho, Tae Joon
AU - Goldberg, Michael J.
AU - Hoover-Fong, Julie
AU - Irving, Melita
AU - Kamps, Shawn E.
AU - Mackenzie, William G.
AU - Raggio, Cathleen
AU - Spencer, Samantha S.
AU - White, Klane K.
N1 - Publisher Copyright:
© 2019, American College of Medical Genetics and Genomics.
PY - 2019/9/1
Y1 - 2019/9/1
N2 - Purpose: Skeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the human skeleton. 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. This study presents expert guidelines developed to improve the diagnosis and management of patients with type II collagen skeletal disorders to optimize clinical outcomes. Methods: A 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. Those recommendations with more than 80% agreement were considered as consensual. Results: After the first voting round, consensus was reached to support 12 of 26 (46%) statements. After the panel discussion, the group reached consensus on 22 of 24 revised statements (92%). Conclusions: Consensus-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.
AB - Purpose: Skeletal dysplasias comprise a heterogeneous group of inherited disorders of development, growth, and maintenance of the human skeleton. 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. This study presents expert guidelines developed to improve the diagnosis and management of patients with type II collagen skeletal disorders to optimize clinical outcomes. Methods: A 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. Those recommendations with more than 80% agreement were considered as consensual. Results: After the first voting round, consensus was reached to support 12 of 26 (46%) statements. After the panel discussion, the group reached consensus on 22 of 24 revised statements (92%). Conclusions: Consensus-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.
KW - Delphi process
KW - best practice guidelines
KW - management
KW - skeletal dysplasia
KW - type II collagen disorder
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U2 - 10.1038/s41436-019-0446-9
DO - 10.1038/s41436-019-0446-9
M3 - Article
C2 - 30696995
AN - SCOPUS:85060937206
SN - 1098-3600
VL - 21
SP - 2070
EP - 2080
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 9
ER -