Lesinskiene Sigita, Montvilaite Reda, Pociute Kamile, Matuleviciene Ausra, Utkus Algirdas
Clinic of Psychiatry, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania.
Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania.
J Clin Med. 2024 Apr 11;13(8):2204. doi: 10.3390/jcm13082204.
Sotos syndrome is a genetic disorder caused by gene (nuclear receptor binding SET domain containing protein 1) variants and characterized by overgrowth, macrocephaly, learning disabilities, and co-occurring neuropsychiatric symptoms. Literature sources published in 2002-2023 were selected and analyzed from PubMed and Google Scholar databases. 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. 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.
索托斯综合征是一种由基因（含SET结构域的核受体结合蛋白1）变异引起的遗传性疾病，其特征为生长过度、巨头畸形、学习障碍以及并发的神经精神症状。从PubMed和谷歌学术数据库中选取并分析了2002年至2023年发表的文献资料。在患有索托斯综合征的儿童和青少年中观察到神经精神症状。大多数患者有智力障碍或边缘智力。言语智商高于操作智商。个体在语言表达方面存在困难。家长报告有攻击行为。儿童表现出自闭行为、注意力缺陷多动障碍、基于恐惧症的焦虑以及早睡早起。索托斯综合征与儿童神经精神障碍有关。最新研究表明存在智力和语言发育迟缓、攻击爆发、焦虑、自闭症谱系障碍和多动。索托斯综合征患者在应对困难领域时需要全面的帮助。目前对于这些儿童的发育特征以及通过提供多学科长期医疗、教育和社会护理来改善心理社会适应的可能性仍缺乏研究。
