{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T14:47:54Z","timestamp":1789051674548,"version":"build-2803163510"},"reference-count":41,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,2,28]],"date-time":"2023-02-28T00:00:00Z","timestamp":1677542400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sirius University of Science and Technology","award":["COG-RND-2105"],"award-info":[{"award-number":["COG-RND-2105"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Potocki\u2013Lupski 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\u2013slow 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\u2019s 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.<\/jats:p>","DOI":"10.3390\/jpm13030439","type":"journal-article","created":{"date-parts":[[2023,2,28]],"date-time":"2023-02-28T06:09:52Z","timestamp":1677564592000},"page":"439","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Does the Potocki\u2013Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7555-1216","authenticated-orcid":false,"given":"Oksana I.","family":"Talantseva","sequence":"first","affiliation":[{"name":"Center for Cognitive Sciences, Sirius University of Science and Technology, 354340 Sirius, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galina V.","family":"Portnova","sequence":"additional","affiliation":[{"name":"Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Sciences, 117485 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raisa S.","family":"Romanova","sequence":"additional","affiliation":[{"name":"Center for Cognitive Sciences, Sirius University of Science and Technology, 354340 Sirius, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria A.","family":"Martynova","sequence":"additional","affiliation":[{"name":"Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Sciences, 117485 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4005-9512","authenticated-orcid":false,"given":"Olga V.","family":"Sysoeva","sequence":"additional","affiliation":[{"name":"Center for Cognitive Sciences, Sirius University of Science and Technology, 354340 Sirius, Russia"},{"name":"Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Sciences, 117485 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena L.","family":"Grigorenko","sequence":"additional","affiliation":[{"name":"Center for Cognitive Sciences, Sirius University of Science and Technology, 354340 Sirius, Russia"},{"name":"Department of Psychology, University of Houston, Houston, TX 77204, USA"},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA"},{"name":"Child Study Center, Yale University, New Haven, CT 06519, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1097\/DBP.0b013e3181cda67e","article-title":"Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2)","volume":"31","author":"Powell","year":"2010","journal-title":"J. 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