Behavioural, developmental and psychological characteristics in children with germline PTEN mutations: a carer report study

IF 2.1 2区 医学 Q1 EDUCATION, SPECIAL Journal of Intellectual Disability Research Pub Date : 2024-03-20 DOI:10.1111/jir.13130
K. Cummings, R. P. Dias, R. Hart, A. Welham
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Abstract

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.

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PTEN基因突变患儿的行为、发育和心理特征:一项护理人员报告研究。
背景:PTEN 主要是一种肿瘤抑制基因。然而,有研究表明,PTEN 基因突变的患者出现智力障碍和自闭症谱系障碍(ASCs)等困难的比例较高。其他心理特征/经历较少报道,本研究将对此进行探讨:20名PTEN基因突变儿童的父母完成了一项在线调查,调查内容包括适应行为、与自闭症谱系相关的行为、焦虑、情绪、过度活动、挑战行为、感官体验、生活质量和父母的幸福感。研究人员利用已公布的常模数据和来自其他遗传性神经发育疾病患者群体的数据对研究结果进行了综合分析:适应行为的总体水平低于 "典型 "范围,不同领域之间没有明显的相对差异。与 "典型发育 "儿童相比,ASC 相关困难(包括感官体验)的程度更高,限制性/重复性行为可能达到高峰;ASC 和感官处理不典型性还与报告的关节活动过度密切相关。他们的社交动机相对保持不变。研究发现,除社交焦虑与常模数据相当外,其他焦虑水平总体偏高(并与感觉处理和关节过度活动有关)。自伤行为很常见:结论:研究结果表明,PTEN 基因突变的儿童可能存在多种困难,其中包括焦虑症。尽管 ASC 现象升高,但社交动机可能仍然相对较强。由于样本量较小,且可能存在招募偏差,因此无法得出肯定的结论。
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来源期刊
CiteScore
5.60
自引率
5.60%
发文量
81
期刊介绍: The Journal of Intellectual Disability Research is devoted exclusively to the scientific study of intellectual disability and publishes papers reporting original observations in this field. The subject matter is broad and includes, but is not restricted to, findings from biological, educational, genetic, medical, psychiatric, psychological and sociological studies, and ethical, philosophical, and legal contributions that increase knowledge on the treatment and prevention of intellectual disability and of associated impairments and disabilities, and/or inform public policy and practice. Expert reviews on themes in which recent research has produced notable advances will be included. Such reviews will normally be by invitation.
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