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诊断2岁以下儿童自闭症的临床分析:一个案例报告

Maria Fernandez¹, Augusta Soyele², Toritseju Arenyeka³

¹Pediatric Medicine, Florida International University, Miami, USA.

|August 28, 2024

概括

在幼儿中早期诊断自闭症谱系障碍 (ASD) 是至关重要的. 总运动延迟,遗传因素和MCHAT查工具的局限性是准确识别ASD的关键考虑因素.

科学领域:

神经发育障碍神经发育障碍
儿科神经学儿科神经学
遗传学遗传学是一个

背景情况:

自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况,患病率越来越高.
早期诊断和干预对于改善ASD儿童的结果至关重要.
目前的诊断方法可能会在非常年幼的儿童中面临挑战.

研究的目的:

检查2岁以下儿童的ASD临床诊断方法.
在这个年龄组中确定早期ASD诊断的潜在关键指标.
突出现有查工具 (如MCHAT) 的局限性.

主要方法:

对5名被诊断患有自闭症的2岁以下儿童的案例报告分析.
强调临床观察,包括运动发育,遗传因素和身体特征.
对现有文献进行系统审查,以验证发现.

主要成果:

在所有五个案例中都观察到毛发动机延迟,这表明它是潜在的关键诊断指标.
两个案例最初呈现出虚假阴性MCHAT结果.
在两名患者中发现了19号染色体异常,其中一人患有大脑症和氨基酸代谢障碍.
观察到非典型的ASD行为,如手拍.

结论:

早期运动延迟,遗传因素 (例如,染色体19异常) 和早产在ASD诊断中具有重要意义.
在早期发现ASD方面,MCHAT可能存在局限性,需要进行全面的评估.
需要改进的查工具,遗传调查和彻底的评估,以加强早期ASD检测和干预.

关键词:

: 自闭症谱系障碍 (ASD)自闭症和19号染色体自闭症和通信自闭症和基因与基因自闭症和手的方式.自闭症查自闭症查宏观头脑是什么意思?宏观头脑是什么意思 mchat 聊天聊天聊天 mchat-r/f/f 这是一个很好的方法.过早出生的婴儿是早产的

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