Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations,Pediatric Neurology

当前位置： X-MOL 学术 › Pediatr. Neurol. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
Pediatric Neurology ( IF 3.2 ) Pub Date : 2021-07-24 , DOI: 10.1016/j.pediatrneurol.2021.07.011
Hope Northrup ₁ , Mary E Aronow ₂ , E Martina Bebin ₃ , John Bissler ₄ , Thomas N Darling ₅ , Petrus J de Vries ₆ , Michael D Frost ₇ , Zoë Fuchs ₈ , Elizabeth S Gosnell ₉ , Nishant Gupta ₁₀ , Anna C Jansen ₁₁ , Sergiusz Jóźwiak ₁₂ , J Chris Kingswood ₁₃ , Timothy K Knilans ₁₄ , Francis X McCormack ₁₀ , Ashley Pounders ₈ , Steven L Roberds ₈ , David F Rodriguez-Buritica ₁₅ , Jonathan Roth ₁₆ , Julian R Sampson ₁₇ , Steven Sparagana ₁₈ , Elizabeth Anne Thiele ₁₉ , Howard L Weiner ₂₀ , James W Wheless ₂₁ , Alexander J Towbin ₂₂ , Darcy A Krueger ₂₃ ,

Affiliation

Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.
Retina Service, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.
Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama.
Department of Pediatrics, University of Tennessee Health Science Center and Le Bonheur Children's Hospital, Memphis, Tennessee.
Uniformed Services University of the Health Sciences, Bethesda, Maryland.
Division of Child and Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa.
Minnesota Epilepsy Group, St. Paul, Minnesota.
TSC Alliance, Silver Spring, Maryland.
Department of Pediatrics, University of Cincinnati College of Medicine, and Division of Pediatric Dentistry, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Division of Pulmonary, Critical Care and Sleep Medicine, University of Cincinnati, Cincinnati, Ohio.
Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.
Department of Pediatric Neurology, Medical University of Warsaw, Warsaw, Poland.
Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre, St Georges University of London, London, UK.
Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas at Houston Medical Center, Houston, Texas.
Dana Children's Hospital, Tel Aviv Medical Center, Tel Aviv University, Israel.
Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University Medical School, Cardiff, Wales, UK.
Scottish Rite for Children and the University of Texas Southwestern Medical Center, Dallas, Texas.
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.
Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.
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.
Cincinnati Children's Hospital, Department of Radiology, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Division of Neurology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.

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.

中文翻译：

更新的国际结节性硬化症诊断标准以及监测和管理建议

背景

结节性硬化症 (TSC) 是一种常染色体显性遗传病，影响多种身体系统，表现形式差异很大。2013 年，儿科神经病学发表了文章，概述了更新的诊断标准以及对疾病表现的监测和管理的建议。新疗法的知识和批准方面的进步需要对这些标准和建议进行修订。

方法

2012 年国际 TSC 共识组的主席和工作组联合主席应邀在 7 月 25 日至 26 日于美国德克萨斯州达拉斯举行的 2018 年世界 TSC 会议上进行为期两天的面对面会谈。会前，工作组联合主席通过电子邮件和电话与组成员合作，以 (1) 审查自 2013 年出版以来的 TSC 文献，(2) 确认或修改先前的建议，以及 (3) 根据需要提供新的建议。

结果

2013 年报告的临床诊断标准仅发生了两项变化：“多发性皮质结节和/或径向迁移线”取代了更通用的术语“皮质发育不良”，并且恢复了硬化性骨病变作为次要标准。重申了遗传诊断标准，包括强调最近的发现，即一些 TSC 患者在基因上存在TSC1或TSC2变异的嵌合体。监测和管理标准的变化在很大程度上反映了对脑电图异常早期筛查、加强对 TSC 相关神经精神疾病的监测和管理以及新药物批准的重视。