Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex
Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex
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DOI：
10.1017/s0033291702007092
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发表时间：
2003-02-01
影响因子：
6.9
通讯作者：
Bolton, PF
中科院分区：
文献类型：
--
作者：
Joinson, C;O'Callaghan, FJ;Bolton, PF
背景智力障碍是结节性硬化症（TSC）的一个公认的特征，但智力障碍的频率和程度还没有系统地研究了大规模流行病学样本使用标准化的措施。因此，IQ分布的形式（单峰或双峰）尚未建立，IQ与其他特征（例如癫痫病史）之间的关系也未得到很好的描述。为了解决这些缺点，我们评估了一个大的流行病学样本的个人与TSC的智力能力，从'Wessex'英格兰西南部地区，并比较他们的能力，他们未受影响的同胞。使用标准化测试来估计108名（56名男性，52名女性，中位年龄= 25，范围= 4-75）患有TSC的个体和29名未受影响的兄弟姐妹（14名男性，15名女性，中位年龄= 18，范围= 6-55）的能力。癫痫发作史来源于报告人和病历。估计的IQ为双峰分布：55（.）5%的人智商在正常范围内; 14%的人有轻度至严重的障碍; 30（.）5%有严重残疾（IQ < 21）。44%的TSC患者的IQ < 70。在正常智力的TSC患者中，IQ呈正态分布，平均值为93（.）6.这一平均值明显低于未受影响的兄弟姐妹的平均智商（智商= 105）。6）。所有有学习障碍的人都有癫痫发作史，通常在12个月大之前开始发作，通常表现为婴儿痉挛症。多因素分析表明，癫痫发作史以及婴儿痉挛症史是智力障碍程度的预测因素。在TSC患者的代表性样本中，智力呈双峰分布。损害的可能性与癫痫发作史有关，特别是婴儿痉挛。这些发现的遗传和大脑基础需要进一步研究。
Background. Intellectual impairments are a recognized feature of tuberous sclerosis complex (TSC), but the frequency and degree of intellectual impairments has not been systematically studied in large epidemiological samples using standardized measures. As such, the form of the IQ distribution (uni-or bi-modal) has not been established and the relationship between IQ and other features (e.g. epilepsy history) is poorly delineated. To address these shortcomings, we assessed the intellectual abilities of a large epidemiological sample of individuals with TSC, drawn from the 'Wessex' area of SW England and compared them with the abilities of their unaffected siblings.Method. Standardized tests were used to estimate the abilities of 108 (56 males, 52 females, median age = 25, range = 4-75) individuals with TSC and 29 unaffected siblings (14 males, 15 females, median age = 18, range = 6-55). Seizure history was obtained from informants and medical records.Results. Estimated IQ was bi-modally distributed: 55(.)5% had an IQ in the normal range; 14% had mild to severe impairments; and 30(.)5% had profound disability (IQ < 21). Forty-four per cent of the individuals with TSC had an IQ < 70. In the subset of normally intelligent individuals with TSC, IQ was normally distributed with a mean of 93(.)6. This mean was significantly lower than the mean IQ of unaffected siblings (IQ = 105(.)6). All individuals with learning disability had a history of seizures that usually commenced before 12 months of age and that often presented as infantile spasms. Multivariate analyses indicated that a history of seizures as well as a history of infantile spasms was predictive of the degree of intellectual impairment.Conclusions. Intellectual abilities were bi-modally distributed in a representative sample of individuals with TSC. The likelihood of impairment was associated with a history of seizures, particularly infantile spasms. The genetic and brain basis of these findings requires further investigation.