Raznahan Armin, Higgins Nicholas P, Griffiths Paul D, Humphrey Ayla, Yates John R W, Bolton Patrick F
Department of Child and Adolescent Psychiatry, Institute of Psychiatry, King's College London, UK.
Psychol Med. 2007 Sep;37(9):1293-304. doi: 10.1017/S0033291707000177. Epub 2007 Mar 5.
Intellectual disability (ID) is highly prevalent in tuberous sclerosis (TS). Putative neurobiological risk factors include indices of cortical tuber (CT) load and epilepsy. We have used univariate and multivariate analyses, including both CT and epilepsy measures as predictors, in an attempt to clarify the pattern of cross-sectional associations between these variables and ID in TS.
Forty-eight children, adolescents and young adults with TS were identified through regional specialist clinics. All subjects underwent thorough history taking and examination, and had brain magnetic resonance imaging (MRI) scans. The number and regional distribution of CTs was recorded. Subjects were assigned to one of nine ordered intellectual quotient (IQ) categories (range 130) using age-appropriate tests of intelligence.
On univariate analyses, ID was significantly associated with both a history of infantile spasm (IS) (Z=-2.49, p=0.01) and total CT count (Spearman's rho=-0.30, p=0.04). When controlling for total CT count, the presence of CTs in frontal (regression coefficient=-2.43, p=0.02) and temporal (regression coefficient=-1.60, p=0.02) lobes was significantly associated with ID. In multivariate analyses the association between IS and ID was rendered insignificant by the inclusion of the presence of CTs in temporal and frontal lobes, both of which remained associated (p=0.05 and p=0.06 respectively) with ID.
The presence of CTs in specific brain regions as opposed to a history of IS was associated with ID in TS. The significance of these findings is discussed in relation to previous work in TS, and the neural basis of intelligence.
智力障碍（ID）在结节性硬化症（TS）中极为常见。假定的神经生物学危险因素包括皮质结节（CT）负荷指标和癫痫。我们采用单变量和多变量分析，将CT和癫痫指标均作为预测因素，试图阐明这些变量与TS中ID之间的横断面关联模式。
通过地区专科诊所确定了48名患有TS的儿童、青少年和年轻人。所有受试者均接受了全面的病史采集和检查，并进行了脑磁共振成像（MRI）扫描。记录CT的数量和区域分布。使用适合年龄的智力测试将受试者分为九个有序的智商（IQ）类别之一（范围130）。
在单变量分析中，ID与婴儿痉挛症（IS）病史（Z = -2.49，p = 0.01）和CT总数（Spearman等级相关系数=-0.30，p = 0.04）均显著相关。在控制CT总数时，额叶（回归系数=-2.43，p = 0.02）和颞叶（回归系数=-1.60，p = 0.02）中CT的存在与ID显著相关。在多变量分析中，通过纳入颞叶和额叶中CT的存在，IS与ID之间的关联变得不显著，而颞叶和额叶中的CT均与ID保持相关（分别为p = 0.05和p = 0.06）。
与IS病史相反，特定脑区中CT的存在与TS中的ID相关。结合TS以前的研究工作以及智力的神经基础，对这些发现的意义进行了讨论。
