| Autor: |
Talantseva OI; Center for Cognitive Sciences, Sirius University of Science and Technology, 354340 Sirius, Russia., Portnova GV; Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Sciences, 117485 Moscow, Russia., Romanova RS; Center for Cognitive Sciences, Sirius University of Science and Technology, 354340 Sirius, Russia., Martynova DA; Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Sciences, 117485 Moscow, Russia., Sysoeva OV; 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., Grigorenko EL; Center for Cognitive Sciences, Sirius University of Science and Technology, 354340 Sirius, Russia.; Department of Psychology, University of Houston, Houston, TX 77204, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Child Study Center, Yale University, New Haven, CT 06519, USA. |
| Abstrakt: |
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. |
