Abstract：
This study aimed to describe the behavioral profile of individuals with SYNGAP1-ID. Parents/carers of 30 individuals aged 3-18 years old with a diagnosis of SYNGAP1-ID and 21 typically developing individuals completed the Vineland-3 Adaptive Behavior Scale and the Child Behavior Checklist. We found that those with SYNGAP1-ID showed fewer adaptive behaviors and higher levels of internalizing and externalizing behaviors across almost all domains compared to typically developing controls. There was some evidence that these differences were greatest in older children, and more apparent in those with co-occuring epilepsy. This characterization of the phenotype of SYNGAP1-ID significantly aids our understanding of the behavioral profile of this population and is a step towards the development of tailored interventions.
摘要：
本研究旨在描述具有SYNGAP1-ID的个体的行为特征。30名3-18岁诊断为SYNGAP1-ID的个体的父母/照顾者和21名通常发育中的个体完成了Vineland-3适应性行为量表和儿童行为清单。我们发现，与通常开发的对照相比，具有SYNGAP1-ID的那些在几乎所有领域都表现出较少的适应性行为和较高水平的内在化和外在化行为。有一些证据表明，这些差异在年龄较大的儿童中最大，在患有癫痫的患者中更为明显。SYNGAP1-ID表型的这种表征显着帮助我们理解该人群的行为特征，并且是朝着开发定制干预措施迈出的一步。
