A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

被引：75
作者：
de Vries, Petrus J. [1 ]
Wilde, Lucy [2 ]
de Vries, Magdalena C. [1 ]
Moavero, Romina [3 ,4 ]
Pearson, Deborah A. [5 ]
Curatolo, Paolo [3 ]
机构：
[1] Univ Cape Town, Div Child & Adolescent Psychiat, 46 Sawkins Rd, ZA-7700 Cape Town, South Africa
[2] Univ Birmingham, Sch Psychol, Cerebra Ctr Neurodev Disorders, Birmingham, W Midlands, England
[3] Univ Roma Tor Vergata, Syst Med Dept, Child Neurol & Psychiat Unit, Rome, Italy
[4] Bambino Gesu Pediat Hosp, Neurosci & Neurorehabil Dept, Child Neurol Unit, IRCCS, Rome, Italy
[5] Univ Texas Hlth Ctr, McGovern Med Sch, Dept Psychiat & Behav Sci, Houston, TX USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2018年 / 178卷 / 03期
基金：
美国国家卫生研究院; 新加坡国家研究基金会;
关键词：
ADHD; anxiety; autism spectrum disorder; behavior; depression; mental health; neuropsychological deficits; scholastic difficulties; TANDTSC; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; DEFICIT HYPERACTIVITY DISORDER; CONSENSUS CONFERENCE; MUTATIONAL ANALYSIS; INFANTILE SPASMS; DOUBLE-BLIND; RISK-FACTORS; CHILDREN; EVEROLIMUS;
D O I：
10.1002/ajmg.c.31637
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Tuberous sclerosis complex (TSC) is associated with a wide range of behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties, which are often underdiagnosed and undertreated. Here, we present a clinical update on TSC-associated neuropsychiatric disorders, abbreviated as TAND, to guide screening, diagnosis, and treatment in practice. The review is aimed at clinical geneticists, genetic counselors, pediatricians, and all generalists involved in the assessment and treatment of children, adolescents and adults with TSC, and related disorders. The review starts with a summary of the construct and levels of TAND, before presenting up-to-date information about each level of investigation. The review concludes with a synopsis of current and future TAND research.
引用
收藏
页码：309 / 320
页数：12
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