Abstract：
Background: Phelan-McDermid syndrome is a genetic disorder caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.3 and is characterized by autism spectrum disorder, intellectual disability, speech and language abnormalities, hypotonia, and mild dysmorphic features. Early literature in Phelan-McDermid syndrome did not include gait abnormalities as part of the syndrome although recent prospective studies report that the prevalence of gait abnormalities ranges from 55% to 94%. We compared gait abnormalities in individuals with Phelan-McDermid syndrome, idiopathic autism spectrum disorder, and typically developing controls, and explored associations between gait abnormalities, autism spectrum disorder, and intellectual functioning. Method: The study cohort consists of 67 participants between the ages of 3 and 18 years, divided into 3 groups: Phelan-McDermid syndrome (n = 46), idiopathic autism spectrum disorder (n = 11), and typically developing controls (n = 10). Gait was recorded using a video camera and scored across 26 gait features using a \"Gait Clinical Observations scale\" designed specifically for this study. Results: Gait abnormalities were significantly higher in the Phelan-McDermid syndrome group as compared to idiopathic autism spectrum disorder or typically developing controls. The number of gait abnormalities across groups was also significantly correlated with Intellectual Quotient/Developmental Quotient (IQ/DQ). In analysis of covariance including IQ/DQ, the effect of group was not significant, but the effect of IQ/DQ was significant. Conclusions: Overall differences in gait abnormalities were determined by the degree of intellectual disability, which was significantly higher in Phelan-McDermid syndrome.
摘要：
背景：Phelan-McDermid综合征是由染色体22q13.3上SHANK3基因单倍体功能不全引起的遗传性疾病，以孤独症谱系障碍为特征，智力残疾,言语和语言异常，低张力,和轻度的变形特征。Phelan-McDermid综合征的早期文献并未将步态异常作为该综合征的一部分，尽管最近的前瞻性研究报告步态异常的患病率为55％至94％。我们比较了Phelan-McDermid综合征患者的步态异常，特发性自闭症谱系障碍，通常是开发控件，探索步态异常之间的关联，自闭症谱系障碍，和智力功能。方法：研究队列由67名3至18岁的参与者组成，分为3组：Phelan-McDermid综合征（n=46），特发性自闭症谱系障碍（n=11），通常开发对照（n=10）。使用摄像机记录步态，并使用专门为此研究设计的“步态临床观察量表”对26个步态特征进行评分。结果：与特发性自闭症谱系障碍或通常发展中的对照组相比，Phelan-McDermid综合征组的步态异常明显更高。各组步态异常的数量也与智商/发育商（IQ/DQ）显着相关。在包括IQ/DQ在内的协方差分析中，组的效果不显著，但IQ/DQ效应显著。结论：步态异常的总体差异取决于智力残疾的程度，在Phelan-McDermid综合征中明显更高。
