言語病理学および言語療法ジャーナル

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Exploring the Association between Potocki-Lupski Syndrome and Autism Spectrum Disorder: A Case Report

Elena Williams

Potocki-Lupski Syndrome (PTLS) is a rare genetic disorder characterized by a duplication of 17p11.2, which can lead to various congenital abnormalities and diverse behavioral phenotypes. While developmental delay and intellectual disability are commonly observed in PTLS, autism-specific traits are frequently reported as well. In this study, we present a case of a female adolescent with a de novo dup(17) (p11.2p11.2) who does not exhibit features of autism spectrum disorder (ASD). Our investigation focuses on comprehensive clinical, behavioral, and electrophysiological (EEG) evaluations. Notably, the EEG analysis revealed atypical peak–slow wave patterns and a distinctive saw-like sharp wave at 13 Hz, which have not been previously documented in other PTLS patients. The power spectral density of the resting state EEG in our patient appeared typical, but non-linear EEG dynamics, such as Hjorth complexity and fractal dimension, exhibited significant attenuation compared to neurotypical peers. Furthermore, we provide a summary of previously published reports on PTLS, highlighting the estimated occurrence of ASD (approximately 21%) which may be subject to bias due to methodological limitations. Intellectual disability and speech and language disorders were found to be more consistent features among PTLS patients.