TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.
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DOI：
10.1186/s13023-018-0901-8
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发表时间：
2018-09-10
影响因子：
3.7
通讯作者：
TOSCA Consortium and TOSCA Investigators
中科院分区：
文献类型：
--
作者：
de Vries PJ;Belousova E;Benedik MP;Carter T;Cottin V;Curatolo P;Dahlin M;D'Amato L;d'Augères GB;Ferreira JC;Feucht M;Fladrowski C;Hertzberg C;Jozwiak S;Kingswood JC;Lawson JA;Macaya A;Marques R;Nabbout R;O'Callaghan F;Qin J;Sander V;Sauter M;Shah S;Takahashi Y;Touraine R;Youroukos S;Zonnenberg B;Jansen AC;TOSCA Consortium and TOSCA Investigators
到目前为止，TSC相关性神经精神障碍(TAND)的大部分证据来自小型研究和病例报告，对成年人的TAND知之甚少。我们探索了来自大规模国际托斯卡自然历史研究的基线tand数据，以比较儿童和成人的模式，描述基于年龄的模式，并探索基因与tand的相关性。在第三次中期分析的数据截止日期(数据截止日期：2015年9月30日)，这项研究从31个国家的170个地点招募了2216名符合条件的TSC参与者。最常见的行为问题(在>； 报告中有10%的参与者)是过度活动、睡眠困难、冲动、焦虑、情绪波动、严重的攻击性、抑郁情绪、自我伤害和痴迷。精神障碍包括自闭症谱系障碍(21.1%)、注意缺陷多动障碍(19.1%)、焦虑障碍(9.7%)和抑郁障碍(6.1%)。885名参与者获得了智商(IQ)分数。在这些人中，44.4%的人智商正常，而轻度、中度、重度和重度智力残疾(ID)分别为28.1、15.1、9.3和3.1%。58.6%的受试者发现学习困难，55.7%的受试者存在神经心理缺陷(表现和第五个百分位数)。儿童的过度活动和冲动的发生率明显更高，成人的焦虑、抑郁情绪、情绪波动、强迫症、精神错乱和幻觉的发生率更高。基因相关分析显示TSC2的自伤、自闭症、学习困难和神经心理缺陷的发生率较高。未发现突变(NMI)的患者表现为TAND表现的混合模式。儿童和患有TSC2的儿童智力残疾的比率明显更高，这表明应该谨慎地解释年龄和基因型的比较。这些结果强调了TSC中TAND的大小，以及在所有TSC儿童和成人中，跨TSC1和TSC2基因型以及在未发现突变的儿童和成人中评估神经精神共病的重要性。然而，这项研究中未报告或遗漏TAND数据的比率很高，这突显了这样一个事实，即即使在专家中心，TAND仍未得到充分诊断和潜在的治疗不足。
Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date have come from small studies and case reports, and very little is known about TAND in adults. We explored baseline TAND data from the large-scale international TOSCA natural history study to compare childhood and adult patterns, describe age-based patterns, and explore genotype-TAND correlations. The study enrolled 2216 eligible participants with TSC from 170 sites across 31 countries at the data cut-off for the third interim analysis (data cut-off date: September 30, 2015). The most common behavioural problems (reported in > 10% of participants) were overactivity, sleep difficulties, impulsivity, anxiety, mood swings, severe aggression, depressed mood, self-injury, and obsessions. Psychiatric disorders included autism spectrum disorder (ASD, 21.1%), attention deficit hyperactivity disorder (ADHD, 19.1%), anxiety disorder (9.7%), and depressive disorder (6.1%). Intelligence quotient (IQ) scores were available for 885 participants. Of these, 44.4% had normal IQ, while mild, moderate, severe, and profound degrees of intellectual disability (ID) were observed in 28.1, 15.1, 9.3, and 3.1%, respectively. Academic difficulties were identified in 58.6% of participants, and neuropsychological deficits (performance <5th percentile) in 55.7%. Significantly higher rates of overactivity and impulsivity were observed in children and higher rates of anxiety, depressed mood, mood swings, obsessions, psychosis and hallucinations were observed in adults. Genotype-TAND correlations showed a higher frequency of self-injury, ASD, academic difficulties and neuropsychological deficits in TSC2. Those with no mutations identified (NMI) showed a mixed pattern of TAND manifestations. Children and those with TSC2 had significantly higher rates of intellectual disability, suggesting that age and genotype comparisons should be interpreted with caution. These results emphasize the magnitude of TAND in TSC and the importance of evaluating for neuropsychiatric comorbidity in all children and adults with TSC, across TSC1 and TSC2 genotypes, as well as in those with no mutations identified. However, the high rates of unreported or missing TAND data in this study underline the fact that, even in expert centres, TAND remains underdiagnosed and potentially undertreated.
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