SYNGAP1相关的智力障碍（ID）是最近描述的一种神经发育障碍，由SYNGAP1基因的致病性变异引起。迄今为止,这种疾病的行为特征主要通过病例系列中现有诊断的患病率得到强调.我们着手通过与患有SYNGAP1相关ID的孩子的人进行访谈，以描述他们孩子的行为，从而详细说明这种疾病的行为特征。
我们对父母和照顾者进行了27次半结构化访谈，涵盖了基本信息(例如，年龄,性别)，家族史,围产期病史,既往病史,发展史,癫痫,行为史，以及他们孩子行为的一般描述。
采用定量和定性混合的方法，父母的反应表明，那些与SYNGAP1相关的ID表现出很高的自闭症谱系障碍（52％），精细和粗大运动技能方面的困难，语言发展的延迟，和癫痫的高患病率（70％）。定性分析强调了他们的一般行为影响了日常生活技能的主题，与痛苦相关的行为，情绪调节,改变的困难，缺乏危险意识，和感官差异。描述的感觉特征涉及听觉，视觉，触觉,味觉,和本体感受主题。
我们的发现和行为描述为SYNGAP1相关ID的诊断和护理提供了重要的见解和意义。
SYNGAP1-related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathogenic variation in the SYNGAP1 gene. To date, the behavioural characteristics of this disorder have mainly been highlighted via the prevalence of existing diagnoses in case series. We set out to detail the behavioural features of this disorder by undertaking interviews with those who have a child with SYNGAP1-related ID to allow them to describe their child\'s behaviour.
We conducted 27 semi-structured interviews with parents and caregivers which covered basic information (e.g., age, gender), family history, perinatal history, past medical history, developmental history, epilepsy, behavioural history, and a general description of their child\'s behaviour.
Using a mixed quantitative and qualitative approach, the responses from the parents indicated that those with SYNGAP1-related ID showed high rates of autism spectrum disorder (52%), difficulties with fine and gross motor skills, delays in language development, and a high prevalence of epilepsy (70%). A qualitative analysis highlighted their general behaviour affected the themes of daily living skills, distress-related behaviours, emotional regulation, difficulties with change, a lack of danger awareness, and sensory differences. Sensory features described involved auditory, visual, tactile, gustatory, and proprioceptive themes.
Our findings and behavioural descriptions provide important insights as well as implications for the diagnosis and care of those with SYNGAP1-related ID.
