Hinton Rebecca, Budimirovic Dejan B, Marschik Peter B, Talisa Victor B, Einspieler Christa, Gipson Tanjala, Johnston Michael V
Clinical Trials Center, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Dev Neurorehabil. 2013;16(1):58-66. doi: 10.3109/17518423.2012.704414.
This study examined features of early language and motor milestones in children with fragile X syndrome (FXS) and contrasted these features with a diagnosis of Autism Spectrum Disorder (ASD) later in life in these children.
We retrospectively examined parental report of age of onset for walking and first words for primarily boys with FXS, both with ASD (FXS + ASD) and FXS-only. The diagnosis of ASD was established by DSM-IV criteria, which were complemented by the ADOS. The age of onset was analyzed as a continuous and categorical variable, which were compared to the upper limit of typically developing children.
Individuals with FXS-only are more delayed in the onset of first words than first walks. The finding represents a pattern suggesting a continuum as robustly demonstrated in individuals with FXS + ASD vs. FXS-only.
Our results support validity of FXS + ASD co-morbidity as a distinct phenotype in individuals with FXS.
本研究调查了脆性X综合征（FXS）患儿早期语言和运动发育里程碑的特征，并将这些特征与这些患儿日后被诊断为自闭症谱系障碍（ASD）的情况进行对比。
我们回顾性地调查了主要为患有FXS的男孩（包括同时患有ASD的FXS患儿（FXS+ASD）和仅患有FXS的患儿）开始走路和说出第一个单词的年龄的家长报告。ASD的诊断依据DSM-IV标准，并辅以ADOS。将发病年龄作为连续和分类变量进行分析，并与正常发育儿童的上限进行比较。
仅患有FXS的个体说出第一个单词的起始时间比开始走路的时间更延迟。这一发现代表了一种模式，表明在患有FXS+ASD的个体与仅患有FXS的个体中都有力地证明了这种连续性。
我们的结果支持FXS+ASD共病作为FXS个体中一种独特表型的有效性。
