Kamila Gautam, Jauhari Prashant, Kumar Atin, Singh Sonali, Chakrabarty Biswaroop, Gulati Sheffali, Pandey R M
Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Seizure. 2025 Apr;127:94-100. doi: 10.1016/j.seizure.2025.03.006. Epub 2025 Mar 10.
This cross-sectional study compared the thalamic volume (TV) of children with Developmental and/or Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS) with age matched children with well-controlled epilepsy(WCE).
An unaided eye assessment of T1-weighted brain MRI sequences and quantitative volumetric analysis through "volBrain" online software was performed in children (5-12 years) with steroid-naïve D/EE-SWAS {spike-wave-index(SWI) in sleep≥50 %} and typically developing children with WCE (seizure-free period ≥1-year). The absolute and relative thalamic volume (ATV/RTV) (RTV: thalamic volume as percentage of the total intracranial volume), were compared between the two groups.
Twenty-children each with D/EE-SWAS (14 boys; mean age: 8.05±1.76 years) and WCE (15 boys; mean age: 9.1 ± 1.74 years) were analysed. In the D/EE-SWAS group, (16/20) 80% of participants had a structural lesion while all the children in the WCE group had a presumed genetic etiology. Volumetric analysis detected low ATV (<2 standard deviation) in 12/20 (60 %) children with D/EE-SWAS while unaided eye assessment could pick up thalamic involvement only in six (30 %). On comparison with WCE group (N = 20), mean ATV and RTV in structural D/EE-SWAS (n = 16) [(7.25 cm ± 1.66 versus 11.17 cm ± 1.22; p < 0.0001)(0.73 % ± 0.17 versus 0.87 % ± 0.05; p < 0.001)] and presumed genetic D/EE-SWAS (n = 4) [(9.25 cm ± 0.55, versus 11.17 cm ± 1.22, p < 0.01)(0.74 % ± 0.04 versus 0.87 % ± 0.05; p < 0.0001)] were significantly reduced. ATV did not correlate with SWI in sleep EEG (r =-0.25) in D/EE-SWAS.
Thalamic volume is reduced in majority of children with D/EE-SWAS in both structural and presumed genetic etiology.
本横断面研究比较了睡眠期伴有棘波激活的发育性和/或癫痫性脑病（D/EE-SWAS）儿童与年龄匹配的癫痫控制良好（WCE）儿童的丘脑体积（TV）。
对未使用类固醇的D/EE-SWAS（睡眠期棘波指数[SWI]≥50%）儿童（5 - 12岁）和癫痫控制良好的典型发育儿童（无癫痫发作期≥1年）进行了T1加权脑MRI序列的肉眼评估，并通过“volBrain”在线软件进行定量体积分析。比较了两组之间的绝对和相对丘脑体积（ATV/RTV）（RTV：丘脑体积占总颅内体积的百分比）。
分析了20名D/EE-SWAS儿童（14名男孩；平均年龄：8.05±1.76岁）和20名WCE儿童（15名男孩；平均年龄：9.1±1.74岁）。在D/EE-SWAS组中，80%（16/20）的参与者有结构性病变，而WCE组的所有儿童都有推测的遗传病因。体积分析在12/20（60%）的D/EE-SWAS儿童中检测到低ATV（<2个标准差），而肉眼评估仅能发现6名（30%）儿童的丘脑受累。与WCE组（N = 20）相比，结构性D/EE-SWAS（n = 16）的平均ATV和RTV[（7.25 cm±1.66对11.17 cm±1.22；p < 0.0001）（0.73%±0.17对0.87%±0.05；p < 0.001）]和推测性遗传D/EE-SWAS（n = 4）的平均ATV和RTV[（9.25 cm±0.55对11.17 cm±1.22，p < 0.01）（0.74%±0.04对0.87%±0.05；p < 0.0001）]均显著降低。在D/EE-SWAS中，ATV与睡眠脑电图中的SWI无相关性（r = -0.25）。
在结构性和推测性遗传病因的大多数D/EE-SWAS儿童中，丘脑体积减小。
