■虽然低剂量拉莫三嗪在儿科人群中显示出治疗阵发性运动障碍(PKD)的有效性,延长使用的认知后果尚未完全阐明。这项研究旨在评估儿童接受两年拉莫三嗪治疗后认知功能的演变以及注意力缺陷和多动障碍(ADHD)症状的改善。
■这项调查采用了开放标签,不受控制的试验设计。2008年1月至2021年12月,31名参与者,年龄在6.5至14.1岁之间,在接受新的PKD诊断后登记,由Bruno在2004年制定的临床诊断标准所定义。使用全外显子组测序(WES)和所有受试者的拷贝数变体(CNV)的生物信息学分析,实现了PRRT2变体和16p11.2微缺失的综合评估。诊断后立即,参与者开始接受低剂量拉莫三嗪治疗.在基线和2年后使用韦氏儿童智力量表-中国修订版(WISC-CR)评估认知功能,专家根据ADHD的DSM-IV诊断标准和ADHD评定量表-IV(ADHD-RS-IV)同时评估ADHD诊断和症状严重程度。
■最初,31例患者中有12例(38.7%)合并多动症.有ADHD的PKD患者(30.75±12.88个月)的治疗开始潜伏期明显长于无ADHD的患者(11.66±9.08个月)。t=4.856,p<0.001。值得注意的是,与潜伏期较短的患者相比,潜伏期超过2年的患者出现多动症合并症的风险增加(OR=4.671,P=0.015).在队列中,25名患者看到临床试验完成。这些人在FSIQ开始时相对于2年的WISC-CR得分显着升高(基线平均值:108.72±10.45vs.24个月:110.56±10.03,p=0.001),VIQ(基线平均值:109.44±11.15vs.24个月:110.80±10.44,p=0.028),和PIQ域(基线平均值:106.52±9.74vs.24个月:108.24±9.38,p=0.012)。同时,与基线相比,在2年时观察到ADHD注意力不集中的缓解(p<0.001),平均总分量表得分从9.04±4.99下降到6.24±4.05。
■儿童未治疗PKD的持续时间延长可能会增加多动症合并症的风险。值得注意的是,在2年的拉莫三嗪方案后,认知测试结果和ADHD症状学均得到改善.
UNASSIGNED: While low-dose lamotrigine has shown effectiveness in managing paroxysmal kinesigenic dyskinesia (
PKD) in pediatric populations, the cognitive consequences of extended use are yet to be fully elucidated. This study seeks to assess the evolution of cognitive functions and the amelioration of attention deficit and hyperactivity disorder (ADHD) symptoms following a two-year lamotrigine treatment in children.
UNASSIGNED: This investigation employed an open-label, uncontrolled trial design. Between January 2008 and December 2021, thirty-one participants, ranging in age from 6.5 to 14.1 years, were enrolled upon receiving a new diagnosis of
PKD, as defined by the clinical diagnostic criteria set by Bruno in 2004. Comprehensive evaluation of PRRT2 variants and 16p11.2 microdeletion was achieved using whole-exome sequencing (WES) and bioinformatics analysis of copy number variant (CNV) for all subjects. Immediately after diagnosis, participants commenced treatment with low-dose lamotrigine. Cognitive function was assessed using the Wechsler Intelligence Scale for Children-Chinese Revised (WISC-CR) at baseline and after 2 years, with ADHD diagnoses and symptom severity simultaneously assessed by experts in accordance with the DSM-IV diagnostic criteria for ADHD and the ADHD Rating Scale-IV (ADHD-RS-IV).
UNASSIGNED: Initially, twelve out of 31 patients (38.7%) presented with comorbid ADHD. The latency to treatment initiation was notably longer in
PKD patients with ADHD (30.75 ± 12.88 months) than in those without ADHD (11.66 ± 9.08 months), t = 4.856, p<0.001. Notably, patients with a latency exceeding 2 years exhibited a heightened risk for comorbid ADHD (OR = 4.671, P=0.015) in comparison to those with shorter latency. Out of the cohort, twenty-five patients saw the clinical trial to its completion. These individuals demonstrated a marked elevation in WISC-CR scores at the 2-year mark relative to the outset across FSIQ (baseline mean: 108.72 ± 10.45 vs 24 months: 110.56 ± 10.03, p=0.001), VIQ (baseline mean: 109.44 ± 11.15 vs 24 months: 110.80 ± 10.44, p=0.028), and PIQ domains (baseline mean: 106.52 ± 9.74 vs 24 months: 108.24 ± 9.38, p=0.012). Concurrently, a substantial mitigation was observed in ADHD inattention at 2 years compared to baseline (p<0.001), with an average total subscale scores decrement from 9.04 ± 4.99 to 6.24 ± 4.05.
UNASSIGNED: Prolonged duration of untreated
PKD in children may elevate the risk of ADHD comorbidity. Notably, following a 2-year lamotrigine regimen, enhancements were observed in both cognitive test outcomes and ADHD symptomatology.