探索具有生殖PTEN变体的个体的神经特征:一个多中心研究
Andrew Dhawan1,2, Sarah Baitamouni1, Darren Liu1
1Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.
Annals of clinical and translational neurology
|March 19, 2024
概括
PTEN hamartoma瘤综合征 (PHTS) 经常导致儿童自闭症谱系障碍 (ASD) 和. 大多数PHTS患者需要相关卫生服务来提供神经和发育支持.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- PTEN基因突变导致PTEN哈马托马瘤综合征 (PHTS),这种疾病与神经发育问题有关.
- 患有PHTS的儿童经常经历神经和神经精神疾病的挑战,包括自闭症谱系障碍 (ASD).
- 儿科PHTS患者的特定发作模式和相关医疗服务利用情况仍未得到充分研究.
研究的目的:
- 调查PHTS的年轻患者中发作的频率和特征.
- 确定患有PHTS的儿童在相关卫生服务的使用模式.
- 描述PHTS中的神经学和神经成像发现,特别是与ASD相关的发现.
主要方法:
- 展望,纵向研究涉及107名PHTS年轻患者和38名兄弟控制在五个美国中心.
- 数据收集包括照顾者病史,神经发育评估,异形学检查,脑MRI,特征和接受的疗法.
- 随访发生每6-12个月,平均为2.1年.
主要成果:
- 自闭症谱系障碍 (ASD) 影响了51%的PHTS患者,患者占15%. 一般性与ASD有很强的关联.
- 患有的患者通常需要多种抗发作药物.
- 神经成像显示出突出周周血管空间,并减少了ASD的PHTS患者的周三角髓化. 89%的PHTS患者使用至少一种辅助疗法.
结论:
- 患有PHTS的年轻人表现出广泛的神经症状.
- ASD是PHTS中常见的并发症,通常与有关.
- PHTS患者普遍使用联合医疗服务,这凸显了全面护理规划的必要性.
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