在患有SYNGAP1相关智力障碍的儿童中,描述自闭症和注意力缺陷多动性障碍特征
Damien Wright1, Aisling Kenny2, Lindsay A M Mizen2
1Patrick Wild Centre, Division of Psychiatry, Kennedy Tower, Royal Edinburgh Hospital, University of Edinburgh, EH10 5HF, Edinburgh, UK. damien.wright@ed.ac.uk.
Journal of autism and developmental disorders
|December 6, 2023
概括
患有SYNGAP1相关智力障碍 (ID) 的儿童表现出显著的自闭症和注意力缺陷多动症障碍 (ADHD) 特征. 这些发现有助于描述行为表型,以便更好地诊断和干预.
科学领域:
- 遗传学 是一个遗传学.
- 神经发育障碍 神经发育障碍
- 行为表现型化行为表现型化.
背景情况:
- 与SYNGAP1相关的智力障碍 (ID) 是一种遗传性疾病,导致全球发育迟缓和.
- 个人经常表现出注意力和社交沟通差异,经常与自闭症谱系障碍 (ASD) 或注意力缺陷多动性障碍 (ADHD) 一起发生.
研究的目的:
- 量化自闭症谱系障碍 (ASD) 和注意力缺陷多动性障碍 (ADHD) 症状在SYNGAP1相关的儿童中.
- 为了进一步描述与SYNGAP1相关的ID相关的行为表型.
主要方法:
- 与SYNGAP1相关的ID (N=34) 和典型发展的对照 (N=21) 的儿童的父母/照顾者完成了社会响应度量-2 (SRS) 和社会沟通问卷 (SCQ).
- 一个子组还完成了康纳斯-3以评估ADHD症状.
- 使用等级聚类分析,根据ASD和ADHD特征识别子组.
主要成果:
- 与对照组相比,患有SYNGAP1相关的ID的儿童在SRS和SCQ上表现出更高的自闭症特征.
- 在SRS上,受限制的重复行为是最明显的,而社会意识是最不受损害的.
- 在Conners-3中,观察到显著的ADHD特征,包括同伴关系困难,但行为和反对性挑性障碍的流行率较低.
结论:
- 与SYNGAP1相关的ID与一个独特的行为表型有关,包括显著的ASD和ADHD特征.
- 在SYNGAP1相关的ID中,对于ASD和ADHD特征存在不同的子组.
- 这些发现支持改善SYNGAP1相关ID的诊断,评估和干预策略.
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