Enhancing the utility of tuberous sclerosis complex-associated neuropsychiatric disorders checklist in China  

作　　者：Jing Zhang Gang Zhu Yan Liang Lin Wan Xinting Liu Huimin Yan Guoyin Liu Bo Zhang Guang Yang 

机构地区：[1]Senior Department of Pediatrics,the Seventh Medical Center of Chinese PLA General Hospital,Beijing,China [2]Department of Pediatrics,the First Medical Center of Chinese PLA General Hospital,Beijing,China [3]Medical School of Chinese PLA,Beijing,China [4]Department of Neurology,Boston Children’s Hospital,Harvard Medical School,Boston,Massachusetts 02115,USA [5]Biostatistics and Research Design Center,Institutional Centers for Clinical and Translational Research,Boston Children’s Hospital,Harvard Medical School,Boston,Massachusetts,USA

出　　处：《Pediatric Investigation》2024年第3期171-176,共6页儿科学研究(英文)

基　　金：General project of National Key Research and Development Program of China,Grant/Award Number:2023YFC2706405;Beijing Natural Science Foundation,Grant/Award Number:7222187;The equipment comprehensive research project of General Armament Department,Grant/Award Number:145BHQ090025000X;The special scientific research project of military family planning,Grant/Award Number:22JSZ20;Capital’s Funds for Health Improvement and Research,Grant/Award Number:2024-2-5082;The key project of innovation cultivation fund of the Seventh Medical Center of Chinese PLA General Hospital,Grant/Award Number:qzx-2023-1

摘　　要：INTRODUCTION Tuberous sclerosis complex(TSC)is a genetic disorder characterized by abnormalities affecting various organ systems,including the skin,brain,kidneys,heart,lungs,and eyes.It presents with a diverse range of physical manifestations,necessitating continuous assessment,monitoring,and treatment.1 The incidence of TSC is estimated to range between 1:6000 and 1:10000 live births.2 TSC2 pathogenic variants typically result in a more severe phenotype compared to TSC1 pathogenic variants.3 The diagnosis of TSC is confirmed in a proband through genetic diagnostic criteria,which involves identifying a heterozygous pathogenic variant in either TSC1 or TSC2 using molecular genetic testing.Alternatively,clinical diagnostic criteria can be employed based on the presence and quantity of major and minor clinical features.Regular evaluation and monitoring are essential for the comprehensive management of individuals affected by TSC.

关 键 词：CHECKLIST tuberous sclerosis complex tsc organ systemsincluding organ systems neuropsychiatric disorders 

分 类 号：R741[医药卫生—神经病学与精神病学]