Wang Yang-Yang, Pang Ling-Yu, Ma Shu-Fang, Zhang Meng-Na, Liu Li-Ying, Zou Li-Ping
Department of Paediatrics, Chinese PLA General Hospital, Beijing 100853, China.
Department of Paediatrics, Chinese PLA General Hospital, Beijing 100853, China; Centre of Epilepsy, Beijing Institute for Brain Disorders, Beijing 100069, China.
Epilepsy Behav. 2017 Dec;77:13-18. doi: 10.1016/j.yebeh.2017.09.017. Epub 2017 Oct 23.
Mental retardation (MR) is one of the most common cognitive comorbidities in children with tuberous sclerosis, and there are enormous studies about its risk factors. The genetic difference and the severity of epilepsy are the two main factors, but their weight in the occurrence of MR is still unclear. Two hundred twenty-three patients with tuberous sclerosis who received intelligence assessment, genetic mutation analysis, and the epilepsy severity assessment were included in our study. Genotype-neurocognitive phenotype correlations and epilepsy-neurocognitive phenotype correlations were analyzed by binary logistic regression analysis. No statistical significant result was found on genotype-neurocognitive phenotype correlations, which contrasted the previous report. The prevalence of MR was 50.0% for the patients with tuberous sclerosis complex-1 (TSC1) mutation, 54.5% for TSC2 (p=0.561), 54.7% for patients with protein-truncating (PT) and 50.0% for patients with nontruncating (NT) (p=0.791), and 54.3% for patients with family history and 53.7% for patients without family history (p=0.748). Statistical significant results were found on epilepsy-neurocognitive phenotype correlations, both on E-chess score (p=0.01) and the occurrence of infantile spasms (p=0.014), which was consistent to the previous study. For children with tuberous sclerosis, instead of genetic factors, epilepsy may play the main role for the presence of mental retardation. Patients with mental retardation tend to have earlier seizure attack, take more AEDs, have more seizure types, and have higher seizure frequency. Among the four cognitive functions in Denver II, social ability and language ability are more vulnerable to be influenced than fine and gross motor ability.
智力迟钝（MR）是结节性硬化症患儿最常见的认知合并症之一，关于其危险因素已有大量研究。基因差异和癫痫严重程度是两个主要因素，但它们在MR发生中的权重仍不清楚。我们的研究纳入了223例接受智力评估、基因突变分析和癫痫严重程度评估的结节性硬化症患者。通过二元逻辑回归分析来分析基因型-神经认知表型相关性和癫痫-神经认知表型相关性。在基因型-神经认知表型相关性方面未发现统计学显著结果，这与之前的报告形成对比。结节性硬化症复杂型1（TSC1）突变患者的MR患病率为50.0%，TSC2突变患者为54.5%（p = 0.561），蛋白截短（PT）患者为54.7%，非截短（NT）患者为50.0%（p = 0.791），有家族史患者为54.3%，无家族史患者为53.7%（p = 0.748）。在癫痫-神经认知表型相关性方面发现了统计学显著结果，无论是在电子象棋评分（p = 0.01）还是婴儿痉挛的发生方面（p = 0.014），这与之前的研究一致。对于结节性硬化症患儿，智力迟钝的出现可能主要由癫痫而非遗传因素起作用。智力迟钝患者往往癫痫发作更早，服用更多抗癫痫药物，癫痫发作类型更多，发作频率更高。在丹佛发育筛查测验的四项认知功能中，社交能力和语言能力比精细和粗大运动能力更容易受到影响。
