Talantseva Oksana I, Portnova Galina V, Romanova Raisa S, Martynova Daria A, Sysoeva Olga V, Grigorenko Elena L
Center for Cognitive Sciences, Sirius University of Science and Technology, 354340 Sirius, Russia.
Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Sciences, 117485 Moscow, Russia.
J Pers Med. 2023 Feb 28;13(3):439. doi: 10.3390/jpm13030439.
Potocki-Lupski Syndrome (PTLS) is a rare condition associated with a duplication of 17p11.2 that may underlie a wide range of congenital abnormalities and heterogeneous behavioral phenotypes. Along with developmental delay and intellectual disability, autism-specific traits are often reported to be the most common among patients with PTLS. To contribute to the discussion of the role of autism spectrum disorder (ASD) in the PTLS phenotype, we present a case of a female adolescent with a de novo dup(17) (p11.2p11.2) without ASD features, focusing on in-depth clinical, behavioral, and electrophysiological (EEG) evaluations. Among EEG features, we found the atypical peak-slow wave patterns and a unique saw-like sharp wave of 13 Hz that was not previously described in any other patient. The power spectral density of the resting state EEG was typical in our patient with only the values of non-linear EEG dynamics: Hjorth complexity and fractal dimension were drastically attenuated compared with the patient's neurotypical peers. Here we also summarize results from previously published reports of PTLS that point to the approximately 21% occurrence of ASD in PTLS that might be biased, taking into account methodological limitations. More consistent among PTLS patients were intellectual disability and speech and language disorders.
波托基-卢普斯基综合征（PTLS）是一种罕见疾病，与17p11.2重复有关，可能是多种先天性异常和异质性行为表型的潜在原因。除发育迟缓与智力障碍外，自闭症特异性特征在PTLS患者中常被报道为最常见的。为促进关于自闭症谱系障碍（ASD）在PTLS表型中作用的讨论，我们报告一例无ASD特征的女性青少年新发dup(17)(p11.2p11.2)病例，重点进行深入的临床、行为和电生理（脑电图）评估。在脑电图特征方面，我们发现了非典型的峰-慢波模式以及一种独特的13赫兹锯状尖波，此前在其他患者中未曾描述过。静息态脑电图的功率谱密度在我们的患者中是典型的，仅有非线性脑电图动力学值：与该患者的神经典型同龄人相比，约尔特复杂度和分形维数显著降低。在此我们还总结了先前发表的PTLS报告结果，考虑到方法学局限性，这些结果指出PTLS中约21%的ASD发生率可能存在偏差。PTLS患者中更一致的表现是智力障碍以及言语和语言障碍。
