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简短报告:探索在前往发展儿科诊所就诊的儿童中,未被诊断出的智力残疾的程度。

Short Report: Exploring the extent to which Intellectual Disability is undiagnosed within children attending developmental paediatric clinics.

机构信息

Salvesen Mindroom Research Centre, University of Edinburgh, Edinburgh, UK; NHS Greater Glasgow and Clyde, Glasgow, UK.

Salvesen Mindroom Research Centre, University of Edinburgh, Edinburgh, UK.

出版信息

Res Dev Disabil. 2022 Dec;131:104359. doi: 10.1016/j.ridd.2022.104359. Epub 2022 Oct 8.

DOI:10.1016/j.ridd.2022.104359
PMID:36219958
Abstract

Intellectual Disability is under-ascertained worldwide and is associated with greater physical and mental health difficulties. This research aimed to identify clinical features and characteristics of children with Intellectual Disability in a population of 126 6-18 year olds in mainstream school, attending paediatric developmental clinics. Intellectual Disability was defined according to the DSM-5 (deficits in intellectual and adaptive functioning, present during childhood). Measures used to assess this were WISC-IV IQ (score <70) and ABAS adaptive behaviour (score =<70). Clinical features were compared from a structured clinical records investigation and logistic regression explored which factors were associated with Intellectual Disability. Twenty-eight children (22%) met the criteria for Intellectual Disability. Five variables were associated with higher odds of having Intellectual Disability: no other neurodevelopmental diagnosis, multiple other health problems, prior genetic testing, maternal smoking during pregnancy, and parental unemployment. Routinely-collected paediatric data only predicted Intellectual Disability correctly in two out of five cases. Further research is needed to verify these findings and improve identification. WHAT THIS PAPER ADDS?: Many children with Intellectual Disability, particularly a milder version, still reach adulthood without a diagnosis, despite evidence indicating that diagnosis is generally well received by children and families, and that early intervention leads to improvements in outcomes. This short report, based on a small sample of 126 children aged 6-18 in mainstream school who attended a paediatric development clinic in South East Scotland, provides tentative data on the clinical features and characteristics which are associated with Intellectual Disability. This tentative evidence suggests that the combination of a) having multiple concerns and investigations, alongside b) one or both parents being out of work (which may be related to familial undiagnosed Intellectual Disability), should raise a flag for paediatricians to further investigate the possibility of an Intellectual Disability diagnosis among these children and young people. Further research with larger samples is needed to explore this more robustly, with the potential to create an algorithm to highlight to paediatricians cases requiring formal screening for Intellectual Disability.

摘要

智力障碍在全球范围内都未得到充分诊断,且与更严重的身心健康困难有关。本研究旨在确定在主流学校的 126 名 6-18 岁儿童人群中,儿科发育诊所就诊的儿童的智力障碍的临床特征和特点。智力障碍根据 DSM-5 定义(儿童期存在智力和适应功能缺陷)。用于评估的措施是 WISC-IV IQ(得分<70)和 ABAS 适应行为(得分=<70)。通过结构化临床记录调查比较临床特征,并通过逻辑回归探讨与智力障碍相关的因素。28 名儿童(22%)符合智力障碍的标准。五个变量与更高的智力障碍可能性相关:无其他神经发育诊断、多个其他健康问题、先前的基因测试、母亲怀孕期间吸烟以及父母失业。常规收集的儿科数据仅正确预测了五个病例中的两个。需要进一步研究以验证这些发现并提高识别能力。本文的贡献是什么?尽管有证据表明诊断通常会被儿童和家庭接受,早期干预会改善结果,但仍有许多智力障碍儿童,特别是轻度智力障碍儿童,在成年后仍未得到诊断。本简短报告基于苏格兰东南部一家儿科发展诊所就诊的 126 名 6-18 岁主流学校儿童的小样本,提供了与智力障碍相关的临床特征和特点的初步数据。这一初步证据表明,组合 a)存在多种问题和调查,以及 b)父母一方或双方失业(这可能与家庭未确诊的智力障碍有关),应引起儿科医生的警惕,进一步调查这些儿童和年轻人是否有可能诊断为智力障碍。需要进一步研究更大的样本,以更有力地探讨这一点,有可能创建一个算法,以提示儿科医生注意需要正式筛查智力障碍的病例。

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