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希腊自闭症谱系障碍儿童样本的临床和实验室数据。

Clinical and laboratory data in a sample of Greek children with autism spectrum disorders.

机构信息

1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, 9 Anixeos Str, Panorama, 55236 Thessaloniki, Greece.

出版信息

J Autism Dev Disord. 2012 Jul;42(7):1470-6. doi: 10.1007/s10803-011-1414-7.

DOI:10.1007/s10803-011-1414-7
PMID:22146932
Abstract

The purpose of this study is to describe clinical and laboratory data, as well as comorbid disorders in Greek children with autism spectrum disorders (ASD). Data were retrospectively collected for 222 children aged 1.5-9 years. The mean age at diagnosis was 43.7 ± 17.6 months. Significantly earlier diagnoses were noted in children with comorbid disorders (epilepsy, hearing deficits, genetic/metabolic disorders), mental retardation and a large head circumference (HC). Macrocephaly (HC ≥ 97th percentile) was found in 21.2% of children, genetic and metabolic disorders in 11.7% and 2.7% respectively and mental retardation in 23%. Patients with certain clinical features (i.e. syndromic) are earlier diagnosed. It is of ultimate importance to promptly identify all children with ASD, probably through the appliance of screening and surveillance programs in the Greek population.

摘要

本研究旨在描述希腊自闭症谱系障碍(ASD)儿童的临床和实验室数据以及合并症。数据是回顾性收集的,共 222 名年龄在 1.5-9 岁的儿童。诊断时的平均年龄为 43.7±17.6 个月。患有合并症(癫痫、听力缺陷、遗传/代谢疾病)、智力障碍和大头围(HC)的儿童的诊断明显更早。21.2%的儿童存在头围过大(HC≥第 97 百分位),11.7%和 2.7%分别存在遗传和代谢疾病以及智力障碍。具有某些临床特征(即综合征)的患者更早被诊断。通过在希腊人群中应用筛查和监测计划,尽早识别所有 ASD 儿童可能具有重要意义。

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本文引用的文献

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Macrocephaly in children with autism spectrum disorders.自闭症谱系障碍儿童的大头畸形。
Pediatr Neurol. 2011 Feb;44(2):97-100. doi: 10.1016/j.pediatrneurol.2010.09.011.
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Variants in several genomic regions associated with asperger disorder.与阿斯伯格综合征相关的几个基因组区域的变异。
Autism Res. 2010 Dec;3(6):303-10. doi: 10.1002/aur.158.
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Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.PTEN 基因突变在自闭症或发育迟缓/智力障碍合并大头畸形患者中的确认性研究。
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Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes.携带 CHD8 或其保守靶基因突变的患者的临床表型。
Biol Psychiatry. 2020 Jan 15;87(2):123-131. doi: 10.1016/j.biopsych.2019.07.020. Epub 2019 Jul 30.
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J Inherit Metab Dis. 2018 Jul;41(4):623-629. doi: 10.1007/s10545-017-0070-2. Epub 2017 Aug 30.
8
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