结节性硬化症儿童智力障碍高危因素研究

Study on clinical high-risk factors of intellectual disability in children with tuberous sclerosis complex

目的探讨致结节性硬化症(TSC)智力障碍的临床高危因素。方法回顾分析2016年12月至2020年11月TSC专病队列6~16岁患儿的临床资料,采用韦氏智力测试量表评估智商(IQ),应用儿童青少年简易国际神经心理学访谈量表(MINI-KID)筛查、诊断TSC相关的神经精神障碍性疾病。采用多因素logistic回归寻找智力障碍高危因素。结果入组患儿共95例,85例(89.4%)检出TSC 1/TSC 2基因变异,其中TSC 1基因变异27例,TSC 2变异58例。67例(70.5%)合并智力障碍(IQ<70);76例(80.0%)发生癫痫;79例(83.2%)共患神经精神障碍性疾病,共筛查出16种神经精神障碍性疾病。TSC相关神经精神障碍性疾病、癫痫、抗癫痫药物(≥2种)、较早的癫痫发病年龄(<2岁)、较频繁的癫痫发作频率(每月发作1次以上)与智力障碍显著相关。结论智力障碍是TSC最常见和最主要的特征之一;神经精神障碍性疾病和癫痫是TSC患儿智力障碍的高危因素。

Objective To explore the clinical high-risk factors of intellectual disability in tuberous sclerosis complex(TSC).Methods The clinical data of children aged 6-16 years old with TSC from December 2016 to November 2020 were retrospectively analyzed.The Wechsler Intelligence Scale for Children in Chinese was used to assess intellectual development,and the Mini International Neuropsychiatric Interview for Children(MINI-KID)was used to screen and diagnose TSC-associated neuropsychiatric disorders.Binary logistic regression analysis was used to find the high risk factors for intellectual disability.Results A total of 95 children were enrolled,and TSC1/TSC2 gene variation was detected in 85 cases(89.4%),including 27 cases of TSC1 gene variation and 58 cases of TSC2 gene variation.Sixty-seven(70.5%)children had an intellectual disability(IQ≤70).Epilepsy occurred in 76 children(80.0%).Seventy-nine patients(83.2%)suffered from TSC-associated neuropsychiatric disorders,and 16 kinds of neuropsychiatric disorders were identified.TSC-associated neuropsychiatric disorders,epilepsy,use of a greater number of antiepileptic drugs(≥2),an earlier age of epilepsy onset(<2 years),more frequent seizure frequency(more than once a month)were closely related to the occurrence of intellectual disability(P<0.05).Conclusions Intellectual disability is one of the most common and major characteristics of TSC.Neuropsychiatric disorders and epilepsy are high-risk factors for intellectual disability in children with TSC.