The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC) - A postal survey of UK families
The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC) - A postal survey of UK families
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DOI：
10.1007/s00787-006-0570-3
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发表时间：
2007-02-01
影响因子：
6.4
通讯作者：
Bolton, Patrick F.
中科院分区：
文献类型：
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作者：
de Vries, Petrus J.;Hunt, Ann;Bolton, Patrick F.
多发性硬化症（TSC）是一种多系统遗传性疾病，与广泛的身体特征和非常高的许多神经认知表现率相关。然而，这些特征的表达存在很大的变异性，并且对这种变异性的机制的理解仍然有限。已知精神发育迟滞（MR）和男性性别与一般人群中精神病理学风险增加相关，但没有研究将TSC中的这些亚组作为观察到的变量表达的可能贡献者。目前还不清楚是否家庭散发的差异可能有助于变量的表达。在这项邮政调查中，英国家庭报告了265名TSC儿童和青少年的身体和行为异常的频率和范围。分析显示，没有性别或家庭散发的差异。患有MR的儿童更有可能患有自闭症谱系障碍，注意力缺陷相关症状以及言语和语言困难。他们更有可能有癫痫、面部血管纤维瘤和鲨鱼皮斑的病史，并且往往有更多的疾病的身体特征。然而，大约三分之一没有MR的儿童有发育障碍的特征。焦虑症状、抑郁情绪和攻击性爆发在有和没有MR的人中发生率同样高。这些研究结果表明，TSC可以使任何儿童或青少年患一系列神经发育障碍的风险显著增加。这些困难，往往没有认识到，需要显着的临床和研究的关注。
Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder associated with a wide range of physical features and very high rates of numerous neurocognitive manifestations. However, there is great variability of expression of these features and understanding of the mechanisms underlying this variability is still limited. Mental retardation (MR) and male gender are known to be associated with increased risks of psychopathologies in the general population, but no study has examined these subgroups in TSC as possible contributors to the variable expression observed. It has also remained unclear whether familial-sporadic differences may contribute to variable expression. In this postal survey, UK families reported the frequency and range of physical and behavioural abnormalities in 265 children and adolescents with TSC. Analysis revealed no gender or familial-sporadic differences. Children with MR were significantly more likely to have an autism spectrum disorder, attention deficit-related symptoms and speech and language difficulties. They were more likely to have a history of epilepsy, facial angiofibromata and shagreen patches and tended to have a greater number of physical features of the disorder. However, about one third of the children without MR had features suggestive of a developmental disorder. Anxiety symptoms, depressed mood and aggressive outbursts occurred at equally high rates in those with and without MR. These findings show that TSC can place any child or adolescent at significantly increased risk of a range of neurodevelopmental disabilities. These difficulties, often not recognised, require significant clinical and research attention.