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简要报告: 索托斯综合征中的自闭症症状,病例控制研究的初步结果

Assia Riccioni¹, Martina Siracusano², Lucrezia Arturi³

¹Child Neurology and Psychiatry Unit, Department of Neurosciences, Policlinico Tor Vergata Foundation Hospital, Viale Oxford 81, 00133 Rome, Italy.

Research in developmental disabilities

|December 27, 2023

概括

患有索托斯综合征 (SoS) 的儿童表现出自闭症谱系障碍 (ASD) 症状的高患病率. 在SoS中定期评估ASD对于定制治疗和改善结果至关重要.

科学领域:

神经发育障碍神经发育障碍
遗传学和罕见疾病.
儿科神经学儿科神经学

背景情况:

索托斯综合征 (SoS) 呈现出多样化的神经心理特征,通常包括类似于自闭症谱系障碍 (ASD) 的社会沟通和行为挑战.
目前,关于ASD症状在SoS患者中同时出现的研究有限.

研究的目的:

评估一组被诊断为索托斯综合征的儿童中ASD症状的存在和严重程度.
为了将患有SoS的儿童的ASD症状概况与具有特异性ASD的儿童匹配组进行比较.

主要方法:

招募了33名患有SoS的儿童和33名患有特异性ASD的儿童 (平均年龄~9.8岁) 的样本.
用自闭症诊断观察表第二版 (ADOS-2),社会响应度表 (SRS) 和社会沟通问卷 (SCQ) 来评估自闭症症状.

主要成果:

根据ADOS-2分数,超过72%的SOS儿童表现出轻度至中度的ASD症状.
在SoS个体中,较低的智商与ASD症状严重程度的增加相关 (p=0.01).
在SoS和ASD组之间没有发现SRS总得分的显著差异 (p=0.95).

结论:

这些发现表明,患有索托斯综合征的儿童患ASD的风险增加.
建议对患有SoS的儿童进行ASD症状的常规查,以告知治疗干预和长期管理.
早期识别和干预可以显著影响ASD特征的SoS患者的发育轨迹和结果.

关键词:

自闭症自闭症自闭症索托斯综合征 (Sotos Syndrome) 是一种疾病.行为行为行为行为.遗传学遗传学遗传学遗传学是一个神经发育的神经发育社会响应能力社会响应能力

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