PDF(Pubmed)
Abstract：
Background: Sotos syndrome is a genetic disorder caused by NSD1 gene (nuclear receptor binding SET domain containing protein 1) variants and characterized by overgrowth, macrocephaly, learning disabilities, and co-occurring neuropsychiatric symptoms. Methods: Literature sources published in 2002-2023 were selected and analyzed from PubMed and Google Scholar databases. Results: Neuropsychiatric symptoms are observed among children and adolescents with Sotos syndrome. The majority have intellectual disabilities or borderline intellect. Verbal IQ is higher than performance IQ. Individuals display difficulties in expressing language. Aggression is reported by parents. Children express autistic behavior, ADHD, anxiety based on phobias, and early bedtime-wake times. Conclusions: Sotos syndrome is associated with neuropsychiatric disorders in children. Slow intellectual and language development, aggressive outbursts, anxiety, autism spectrum disorder, and hyperactivity are present in the newest studies. Comprehensive assistance is needed for Sotos syndrome patients in responding to areas of difficulty. There is still a lack of research on the developmental characteristics of these children and the possibilities of improving psychosocial adaptation by providing multidisciplinary long-term medical, educational, and social care.
摘要：
背景：Sotos综合征是由NSD1基因（包含核受体结合SET结构域的蛋白质1）变异体引起的遗传性疾病，其特征是过度生长，大头畸形,学习障碍,同时出现神经精神症状.方法：从PubMed和GoogleScholar数据库中选择并分析2002-2023年发表的文献来源。结果：在Sotos综合征的儿童和青少年中观察到神经精神症状。大多数人都有智力障碍或临界智力。言语智商高于表现智商。个人在表达语言时表现出困难。侵略是由父母报告的。儿童表现出自闭症行为，多动症,基于恐惧症的焦虑，和早睡时间。结论：Sotos综合征与儿童神经精神障碍有关。智力和语言发展缓慢，激进的爆发，焦虑,自闭症谱系障碍，多动症出现在最新的研究中。Sotos综合征患者需要全面的援助来应对困难领域。目前仍然缺乏对这些儿童的发育特征以及通过提供多学科长期医学来改善心理社会适应的可能性的研究，教育,和社会关怀。
