背景:在Sotos综合征(SoS)中已经报道了一种极其异质的神经心理学表型,包括涉及自闭症谱系障碍(ASD)的社会交往和行为困难。尽管如此,到目前为止,关于该主题的数据很少。
目的:研究SoS患儿样本中的ASD症状,并与匹配的特发性ASD患者对照组进行比较。
方法:SoS(n=33,年龄:9.8±4.1)和ASD(n=33,年龄:9.9±4.1)的便利样本,包括在内。自闭症症状评估通过自闭症诊断观察时间表-第二版-ADOS-2,社会反应量表-SRS和社会沟通问卷-SCQ进行。
结果:72.7%的SoS儿童表现出ADOS-2测量的轻度至中度ASD症状。单向方差分析显示,智商较低的SoS个体表现出更高的ASD症状水平(p=0.01)。在SRS总分范围内,SoS和ASD组之间没有统计学上的显着差异(p=0.95)。
结论:我们的结果支持SoS中ASD风险增加的证据,建议应定期对SoS儿童进行ASD症状评估,在治疗策略和后期结局方面具有重要意义。
BACKGROUND: An extremely heterogeneous neuropsychological phenotype has been reported in Sotos Syndrome (SoS), including socio-communicative and behavioral difficulties referred to Autism Spectrum Disorder (ASD). Nonetheless, to date, only few data are available on the topic.
OBJECTIVE: To investigate ASD symptoms within a sample of children with SoS in comparison to a matched control group of individuals with idiopathic ASD.
METHODS: A convenience sample of SoS (n = 33, age: 9.8 ± 4.1) and ASD (n = 33, age: 9.9 ± 4.1), was included. Autistic symptoms\' assessment was performed through the administration of the Autism Diagnostic Observation Schedule-Second Edition- ADOS-2, the Social Responsiveness Scale -SRS and the Social Communication Questionnaire-SCQ.
RESULTS: 72.7% of SoS children presented mild to moderate levels of ASD symptoms as measured by the ADOS-2. Oneway ANOVA analysis showed that SoS individuals presenting lower IQ demonstrated higher ASD symptom\'s level (p = 0.01). No statistically significant differences emerged between the SoS and ASD groups within the SRS total score domain (p = 0.95).
CONCLUSIONS: Our results support the evidence for an increased risk for ASD in SoS, suggesting that the ASD symptoms\' assessment should be regularly performed in SoS children, with subsequent important implications in terms of therapeutic strategies and later outcome.