Ydedahl-Jensen Erika, Jensen Stefan Lock, Vilmar Janne Walløe
Ugeskr Laeger. 2021 Feb 1;183(5).
This case report describes a 12-year-old girl with neurofibromatosis type 1 (NF1), infantile autism, attention deficit hyperactivity disorder, executive difficulties and an IQ of 88. Her symptoms of autism being primarily of social communicative character seemed to be characteristic for patients with NF1 and autism spectrum disorders (ASD) compared to non-syndrome patients with ASD. Furthermore, her cognitive difficulties, including executive difficulties, attentional problems and an IQ-point reduction of ten, were very characteristic for NF1. There is a risk of overlapping symptoms, and the need for a thorough psychiatric examination is of great importance.
本病例报告描述了一名12岁女孩,她患有1型神经纤维瘤病(NF1)、婴儿期自闭症、注意力缺陷多动障碍、执行功能障碍,智商为88。与非综合征自闭症谱系障碍(ASD)患者相比,她主要表现为社交沟通特征的自闭症症状似乎是NF1和ASD患者的特征。此外,她的认知困难,包括执行功能障碍、注意力问题以及智商降低10分,都是NF1的典型特征。存在症状重叠的风险,因此进行全面的精神科检查非常重要。