Behavioural phenotype of SYNGAP1-related intellectual disability

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL

Journal of Intellectual Disability Research Pub Date : 2024-05-23 DOI:10.1111/jir.13145

M. P. Kranak, G. Rooker, C. Smith-Hicks

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引用次数: 0

Abstract

Background

SYNGAP1- related intellectual disability (SYNGAP1-ID) is a rare genetic disorder presenting with intellectual disability (ID), epilepsy, maladaptive behaviours and communication challenges. To date, few studies have assessed the context in which these maladaptive behaviours occur. This study aims to investigate the prevalence of problem behaviours, characterise the behavioural phenotype and use well-validated measures to explore variables that maintain the behaviours.

Methods

Our sample includes 19 individuals diagnosed with SYNGAP1-ID and their parents. Parents provided information on behaviours that their children engage in, as well as their general behavioural dispositions. Well-validated measures (e.g., the Repetitive Behaviour Scale-Revised, Sensory Profile-2 and Vineland Adaptive Behaviour Scale) were used. A subset of individuals underwent further direct experimental assessment of their problem behaviour to identify the variables maintaining those problem behaviours. Parental reports were analysed using nonparametric statistical analysis; the direct assessments of individuals' problem behaviour were analysed using visual analysis and validated supplemental measures.

Results

All 19 individuals engaged in some form of maladaptive problem behaviour. Ratings of ritualistic, sameness and restricted behaviours measured by the RBS-R were commensurate with individuals diagnosed with idiopathic autism spectrum disorder (ASD) while self-injurious behaviours were endorsed at a higher level in SYNGAP1-ID when compared with idiopathic ASD. The problem behaviours in our cohort of patients with SYNGAP1-ID were maintained by automatic reinforcement and social attention and are positively correlated with atypical sensory responses.

Conclusions

Individuals with SYNGAP1-ID engage in problem behaviours commensurate with other populations (e.g., those with ASD), they exhibit atypical response to sensory stimuli. Problem behaviours were frequently maintained by automatic reinforcement, which may result from a dysregulated sensory system. Children with SYNGAP1-ID may benefit from strategies used in persons with ASD.

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SYNGAP1相关智障的行为表型。

背景：SYNGAP1-相关智障（SYNGAP1-ID）是一种罕见的遗传性疾病，表现为智障（ID）、癫痫、适应不良行为和沟通障碍。迄今为止，很少有研究对这些适应不良行为发生的背景进行评估。本研究旨在调查问题行为的发生率，描述行为表型的特征，并使用经过充分验证的测量方法来探讨维持这些行为的变量：我们的样本包括 19 名被诊断为 SYNGAP1-ID 的患者及其父母。父母提供了有关子女行为的信息，以及他们的一般行为倾向。他们使用了经过充分验证的测量方法（如重复行为量表（Repetitive Behaviour Scale-Revised）、感官档案-2（Sensory Profile-2）和文兰适应行为量表（Vineland Adaptive Behaviour Scale））。对一部分人的问题行为进行了进一步的直接实验评估，以确定维持这些问题行为的变量。父母的报告采用非参数统计分析法进行分析；对个人问题行为的直接评估采用视觉分析法和经过验证的补充测量法进行分析：所有 19 人都有某种形式的适应不良问题行为。RBS-R对仪式性、同一性和限制性行为的评分与被诊断为特发性自闭症谱系障碍（ASD）的患者一致，而与特发性自闭症相比，SYNGAP1-ID患者的自伤行为评分更高。SYNGAP1-ID患者的问题行为是通过自动强化和社会关注维持的，并且与不典型的感官反应呈正相关：结论：SYNGAP1-ID 患者的问题行为与其他人群（如 ASD 患者）相同，他们对感官刺激的反应不典型。问题行为经常通过自动强化来维持，这可能是感官系统失调的结果。患有 SYNGAP1-ID 的儿童可能会从 ASD 患者采用的策略中受益。

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来源期刊

Journal of Intellectual Disability Research Multiple-

CiteScore

5.60

自引率

5.60%

发文量

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.