背景:PTEN主要是已知的肿瘤抑制基因。然而,研究描述了在有种系PTEN突变的人群中,包括智力残疾和与自闭症谱系疾病(ASC)相关的困难的比率更高.其他心理特征/经历很少报道,并在本研究中进行了探讨。
方法:20名PTEN突变儿童的父母完成了一项在线调查,探索适应性行为。ASC相关行为,焦虑,心情,高流动性,挑战的行为,感官体验,生活质量和父母福祉。已发布的规范数据和来自具有其他遗传神经发育状况的个体组的数据被用于将发现情境化。
结果:适应行为的总体水平低于“典型”范围,域之间没有明显的相对差异。与ASC相关的困难水平更高,包括感官体验,与“通常发育中的儿童”相比,限制/重复行为可能达到峰值;ASC和感觉加工非典型性也与报告的关节过度活动密切相关。注意到社会动机的相对保留。发现焦虑水平整体升高(与感觉处理和关节过度活动有关),除了社交焦虑,与规范数据相当。自我伤害行为很常见。
结论:结果表明,PTEN突变儿童可能存在广泛的困难,包括高度焦虑。尽管ASC现象学提高了,社会动机可能仍然相对较强。确定的结论受到样本量小和潜在招聘偏差的限制,未来的研究需要进一步探索这些特征之间的关系。
BACKGROUND: PTEN is primarily known as a tumour suppressor gene. However, research describes higher rates of difficulties including intellectual disability and difficulties relating to autism spectrum conditions (ASCs) in people with germline PTEN mutations. Other psychological characteristics/experiences are less often reported and are explored in this study.
METHODS: The parents of 20 children with PTEN mutations completed an online survey exploring adaptive behaviour, ASC-associated behaviours, anxiety, mood, hypermobility, behaviours that challenge, sensory experiences, quality of life and parental wellbeing. Published normative data and data from groups of individuals with other genetic neurodevelopmental conditions were used to contextualise findings.
RESULTS: Overall levels of adaptive behaviour were below the \'typical\' range, and no marked relative differences were noted between domains. Higher levels of ASC-related difficulties, including sensory experiences, were found in comparison with \'typically developing\' children, with a possible peak in restrictive/repetitive behaviour; ASC and sensory processing atypicality also strongly correlated with reported joint hypermobility. A relative preservation of social motivation was noted. Anxiety levels were found to be elevated overall (and to relate to sensory processing and joint hypermobility), with the exception of social anxiety, which was comparable with normative data. Self-injurious behaviour was common.
CONCLUSIONS: Results suggest a wide range of possible difficulties in children with PTEN mutations, including elevated anxiety. Despite elevated ASC phenomenology, social motivation may remain relatively strong. Firm conclusions are restricted by a small sample size and potential recruitment bias, and future research is required to further explore the relationships between such characteristics.