Language
English
Publication Date
2-28-2023
Journal
Journal of Personalized Medicine
DOI
10.3390/jpm13030439
PMID
36983620
PMCID
PMC10053863
PubMedCentral® Posted Date
2-28-2023
PubMedCentral® Full Text Version
Post-print
Abstract
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.
Keywords
Potocki–Lupski syndrome, 17p11.2, PTLS, autism, ASD, EEG, language, speech
Published Open-Access
yes
Recommended Citation
Talantseva, Oksana I; Portnova, Galina V; Romanova, Raisa S; et al., "Does the Potocki-Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review." (2023). Faculty and Staff Publications. 5222.
https://digitalcommons.library.tmc.edu/baylor_docs/5222
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