Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

Autor: Northrup H; Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas., Aronow ME; Retina Service, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama., Bissler J; Department of Pediatrics, University of Tennessee Health Science Center and Le Bonheur Children's Hospital, Memphis, Tennessee., Darling TN; Uniformed Services University of the Health Sciences, Bethesda, Maryland., de Vries PJ; Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa., Frost MD; Minnesota Epilepsy Group, St. Paul, Minnesota., Fuchs Z; TSC Alliance, Silver Spring, Maryland., Gosnell ES; Department of Pediatrics, University of Cincinnati College of Medicine, and Division of Pediatric Dentistry, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Gupta N; Division of Pulmonary, Critical Care and Sleep Medicine, University of Cincinnati, Cincinnati, Ohio., Jansen AC; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium., Jóźwiak S; Department of Pediatric Neurology, Medical University of Warsaw, Warsaw, Poland., Kingswood JC; Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre, St Georges University of London, London, UK., Knilans TK; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio., McCormack FX; Division of Pulmonary, Critical Care and Sleep Medicine, University of Cincinnati, Cincinnati, Ohio., Pounders A; TSC Alliance, Silver Spring, Maryland., Roberds SL; TSC Alliance, Silver Spring, Maryland., Rodriguez-Buritica DF; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas at Houston Medical Center, Houston, Texas., Roth J; Dana Children's Hospital, Tel Aviv Medical Center, Tel Aviv University, Israel., Sampson JR; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University Medical School, Cardiff, Wales, UK., Sparagana S; Scottish Rite for Children and the University of Texas Southwestern Medical Center, Dallas, Texas., Thiele EA; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts., Weiner HL; Texas Children's Hospital, Baylor College of Medicine, Houston, Texas., Wheless JW; Professor & Chief of Pediatric Neurology, Le Bonheur Chair in Pediatric Neurology, University of Tennessee Health Science Center; Director, Neuroscience Institute & Le Bonheur Comprehensive Epilepsy Program, Co-Director Le Bonheur Tuberous Sclerosis Center of Excellence, Le Bonheur Children's Hospital, Memphis, Tennessee., Towbin AJ; Cincinnati Children's Hospital, Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, Ohio., Krueger DA; Division of Neurology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: darcy.krueger@cchmc.og.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2021 Oct; Vol. 123, pp. 50-66. Date of Electronic Publication: 2021 Jul 24.
DOI: 10.1016/j.pediatrneurol.2021.07.011
Abstrakt: Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of disease manifestations. Advances in knowledge and approvals of new therapies necessitated a revision of those criteria and recommendations.
Methods: Chairs and working group cochairs from the 2012 International TSC Consensus Group were invited to meet face-to-face over two days at the 2018 World TSC Conference on July 25 and 26 in Dallas, TX, USA. Before the meeting, working group cochairs worked with group members via e-mail and telephone to (1) review TSC literature since the 2013 publication, (2) confirm or amend prior recommendations, and (3) provide new recommendations as required.
Results: Only two changes were made to clinical diagnostic criteria reported in 2013: "multiple cortical tubers and/or radial migration lines" replaced the more general term "cortical dysplasias," and sclerotic bone lesions were reinstated as a minor criterion. Genetic diagnostic criteria were reaffirmed, including highlighting recent findings that some individuals with TSC are genetically mosaic for variants in TSC1 or TSC2. Changes to surveillance and management criteria largely reflected increased emphasis on early screening for electroencephalographic abnormalities, enhanced surveillance and management of TSC-associated neuropsychiatric disorders, and new medication approvals.
Conclusions: Updated TSC diagnostic criteria and surveillance and management recommendations presented here should provide an improved framework for optimal care of those living with TSC and their families.
(Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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