AIM To characterize early changes in developmental ability, language, and adaptive behaviour in infants diagnosed with tuberous sclerosis complex (TSC), and determine whether clinical features of epilepsy influence this pathway. METHOD Prospective, longitudinal data were collected within the Early Development in Tuberous Sclerosis (EDiTS) Study to track development of infants with TSC (n = 32) and typically developing infants (n = 33) between 3 and 24 months of age. Questionnaire and observational measures were used at up to seven timepoints to assess infants' adaptive behaviour, developmental ability, language, and epilepsy. RESULTS A significant group by age interaction effect showed that infants with TSC had lower adaptive functioning at 18 to 24 months old (intercept = 88.12, slope estimate = -0.82, p < 0.001) and lower developmental ability scores from 10 months old (intercept = 83.33, slope estimate = -1.44, p < 0.001) compared to typically developing infants. Early epilepsy severity was a significant predictor of these emerging developmental (R2  = 0.35, p = 0.004, 95% confidence interval [CI] -0.08 to -0.01) and adaptive behaviour delays (R2  = 0.34, p = 0.004, 95% CI -0.05 to -0.01]). Lower vocabulary production (intercept = -1.25, slope = -0.12, p < 0.001) and comprehension scores (intercept = 2.39, slope estimate = -0.05, p < 0.001) in infants with TSC at 24 months old were not associated with epilepsy severity. INTERPRETATION Divergence of developmental ability and adaptive functioning skills occur in infants with TSC from 10 and 18 months, respectively. Associations between early epilepsy severity and impaired development supports the importance of early intervention to reduce seizure severity.

中文翻译：

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结节性硬化症的早期发展和癫痫：一项前瞻性纵向研究。

目的 表征诊断为结节性硬化症 (TSC) 的婴儿的发育能力、语言和适应行为的早期变化，并确定癫痫的临床特征是否影响这一途径。方法 在结节性硬化症早期发育 (EDiTS) 研究中收集前瞻性纵向数据，以跟踪 3 至 24 个月大的 TSC 婴儿 (n = 32) 和典型发育婴儿 (n = 33) 的发育情况。在多达七个时间点使用问卷和观察措施来评估婴儿的适应行为、发育能力、语言和癫痫。结果 按年龄分组的显着交互效应显示，患有 TSC 的婴儿在 18 至 24 个月大时适应性功能较低（截距 = 88.12，斜率估计 = -0.82，p < 0.001），并且从 10 个月大起发育能力得分较低（截距 = 83.33，斜率估计 = -1.44，p < 0.001）与正常发育的婴儿相比。早期癫痫严重程度是这些新兴发育（R2 = 0.35，p = 0.004，95% 置信区间 [CI] -0.08 至 -0.01）和适应性行为延迟（R2 = 0.34，p = 0.004，95% CI - 0.05 至 -0.01]）。24 个月大的 TSC 婴儿的较低词汇量（截距 = -1.25，斜率 = -0.12，p < 0.001）和理解得分（截距 = 2.39，斜率估计 = -0.05，p < 0.001）与癫痫严重程度无关。解释 患有 TSC 的婴儿在 10 个月和 18 个月时分别出现发育能力和适应功能技能的差异。早期癫痫严重程度与发育受损之间的关联支持了早期干预以降低癫痫严重程度的重要性。