Stefaniak-Preis Urszula, Kaczmarek Ada, Andrusiewicz Mirosław, Roszak Magdalena, Trzeszczyńska Natalia, Samborski Włodzimierz, Mojs Ewa, Malak Roksana
Department of Clinical Psychology, Poznan University of Medical Sciences, Bukowska 70, 60-812 Poznań, Poland.
Department of Cell Biology, Faculty of Health Sciences, Poznan University of Medical Sciences, Rokietnicka 5D, 60-806 Poznań, Poland.
J Clin Med. 2024 Dec 22;13(24):7842. doi: 10.3390/jcm13247842.
DDX3X syndrome is often misdiagnosed as autism spectrum disorder (ASD, Rett Syndrome, and Dandy-Walker Syndrome). Precise phenotyping is needed with reference to neurodevelopmental diagnosis. Observation of behavior and communication in parents with DDX3X syndrome in the USA, France, and Poland; conversations with the parents of patients; and rudimentary information in evidence-based medical articles prompted us to identify differences in communication, play, and social interaction between children with ASD only, those with both ASD and , and those with only. As diagnostic tool for patients, we created a questionnaire divided into four sections: medical, social, play, and communication. The results showed inconsistent diagnoses in different countries where children could have been diagnosed with . In a comparative analysis, individuals with exhibited greater social skills than individuals with ASD. Furthermore, those with demonstrated higher levels of social functioning compared to children with ASD. Therefore, parents of children recently diagnosed with ASD or similar conditions are encouraged to complete a survey to determine if their child is likely to have features of DDX3X syndrome. Identification of early behavioral markers that differentiate children with ASD and those with could lead to the earliest opportunity for identification and intervention, and can significantly impact developmental trajectories, leading to better long-term outcomes.
DDX3X综合征常被误诊为自闭症谱系障碍（ASD）、雷特综合征和丹迪-沃克综合征。神经发育诊断需要精确的表型分析。对美国、法国和波兰患有DDX3X综合征的父母的行为和交流进行观察；与患者父母交谈；以及循证医学文章中的基础信息促使我们确定仅患有ASD的儿童、同时患有ASD和DDX3X综合征的儿童以及仅患有DDX3X综合征的儿童在交流、玩耍和社交互动方面的差异。作为诊断DDX3X综合征患者的工具，我们创建了一份分为四个部分的问卷：医学、社交、玩耍和交流。结果显示，在不同国家，对可能患有DDX3X综合征的儿童的诊断存在不一致。在一项比较分析中，患有DDX3X综合征的个体比患有ASD的个体表现出更强的社交技能。此外，与患有ASD的儿童相比，患有DDX3X综合征的个体表现出更高水平的社交功能。因此，鼓励最近被诊断患有ASD或类似病症的儿童的父母完成一项调查，以确定他们的孩子是否可能具有DDX3X综合征的特征。识别区分患有ASD的儿童和患有DDX3X综合征的儿童的早期行为标志物，可以带来最早的识别和干预机会，并能显著影响发育轨迹，从而带来更好的长期结果。
