Hope Northrup1, Mary E Aronow2, E Martina Bebin3, John Bissler4, Thomas N Darling5, Petrus J de Vries6, Michael D Frost7, Zoë Fuchs8, Elizabeth S Gosnell9, Nishant Gupta10, Anna C Jansen11, Sergiusz Jóźwiak12, J Chris Kingswood13, Timothy K Knilans14, Francis X McCormack10, Ashley Pounders8, Steven L Roberds8, David F Rodriguez-Buritica15, Jonathan Roth16, Julian R Sampson17, Steven Sparagana18, Elizabeth Anne Thiele19, Howard L Weiner20, James W Wheless21, Alexander J Towbin22, Darcy A Krueger23. 1. Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas. 2. Retina Service, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts. 3. Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama. 4. Department of Pediatrics, University of Tennessee Health Science Center and Le Bonheur Children's Hospital, Memphis, Tennessee. 5. Uniformed Services University of the Health Sciences, Bethesda, Maryland. 6. Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa. 7. Minnesota Epilepsy Group, St. Paul, Minnesota. 8. TSC Alliance, Silver Spring, Maryland. 9. Department of Pediatrics, University of Cincinnati College of Medicine, and Division of Pediatric Dentistry, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. 10. Division of Pulmonary, Critical Care and Sleep Medicine, University of Cincinnati, Cincinnati, Ohio. 11. Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium. 12. Department of Pediatric Neurology, Medical University of Warsaw, Warsaw, Poland. 13. Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre, St Georges University of London, London, UK. 14. Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio. 15. Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas at Houston Medical Center, Houston, Texas. 16. Dana Children's Hospital, Tel Aviv Medical Center, Tel Aviv University, Israel. 17. Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University Medical School, Cardiff, Wales, UK. 18. Scottish Rite for Children and the University of Texas Southwestern Medical Center, Dallas, Texas. 19. Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts. 20. Texas Children's Hospital, Baylor College of Medicine, Houston, Texas. 21. 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. 22. Cincinnati Children's Hospital, Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, Ohio. 23. 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.
Abstract
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.
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.
Authors: David Lewis-Smith; Shridhar Parthasarathy; Julie Xian; Michael C Kaufman; Shiva Ganesan; Peter D Galer; Rhys H Thomas; Ingo Helbig Journal: Hum Mutat Date: 2022-05-22 Impact factor: 4.700
Authors: Piotr Skrzypczyk; Anna Maria Wabik; Michał Szyszka; Sergiusz Józwiak; Przemysław Bombiński; Aleksandra Jakimów-Kostrzewa; Michał Brzewski; Małgorzata Pańczyk-Tomaszewska Journal: Front Pediatr Date: 2021-11-29 Impact factor: 3.418