在一系列神经发育障碍中的皮层视觉障碍:临床特征,诊断工具评估和与发育结果的关联
Megan Abbott1,2, Katie Angione1,2, Megan Stringfellow3
1Precision Medicine Institute, Children's Hospital Colorado, Anschutz Medical Campus, Aurora, CO, USA.
Journal of child neurology
|August 6, 2025
概括
皮层视觉障碍影响44%患有某些神经遗传障碍的儿童,特别是STXBP1和8p相关的疾病. 通过CDKL5-临床严重性评估等工具进行早期检测对于更好的发育结果至关重要.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
背景情况:
- 皮层视觉障碍 (CVI) 是儿科神经发育障碍的一个重要问题,但往往被低诊断.
- 了解特定神经遗传疾病中的CVI患病率对于有针对性的干预措施至关重要.
研究的目的:
- 确定STXBP1,SLC6A1,环14和8p相关疾病中CVI的患病率和严重程度.
- 评估CDKL5-临床严重性评估-临床医生视觉子域作为CVI的诊断工具.
- 检查这些患者群体中CVI和发育结果之间的关系.
主要方法:
- 85名患有STXBP1,SLC6A1,环14或8p相关疾病的患者的回顾性图表审查.
- 使用CDKL5-临床严重性评估-临床医生视觉子域对CVI的评估.
- CVI,CDKL5分数和Vineland适应性行为量表第三版 (VABS-3) 分数之间的相关性分析.
主要成果:
- 在44%的患者中发现了CVI,其中8p疾病 (54%) 和STXBP1疾病 (50%) 的患病率最高.
- 在SLC6A1疾病组中没有观察到CVI病例.
- CDKL5-临床严重性评估-临床医生视觉子域有效地识别了CVI (平均得分25.9比2.6,P<.0001),截止分数≥11显示高特异性 (95.9%) 和积极的预测值 (94.3%).
- CVI与较差的发育结果有显著的关联,由较高的CDKL5得分和较低的VABS-3得分表明.
结论:
- CVI在特定的神经遗传性疾病中普遍存在,并且与不良的发育轨迹有关.
- CDKL5-临床严重性评估-临床医生视觉子域是诊断CVI的宝贵工具.
- 建议在患有神经遗传疾病的儿童中进行系统的CVI查,以促进早期干预和改善结果.
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