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Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review

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...

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Autores principales: Talantseva, Oksana I., Portnova, Galina V., Romanova, Raisa S., Martynova, Daria A., Sysoeva, Olga V., Grigorenko, Elena L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10053863/
https://www.ncbi.nlm.nih.gov/pubmed/36983620
http://dx.doi.org/10.3390/jpm13030439
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author Talantseva, Oksana I.
Portnova, Galina V.
Romanova, Raisa S.
Martynova, Daria A.
Sysoeva, Olga V.
Grigorenko, Elena L.
author_facet Talantseva, Oksana I.
Portnova, Galina V.
Romanova, Raisa S.
Martynova, Daria A.
Sysoeva, Olga V.
Grigorenko, Elena L.
author_sort Talantseva, Oksana I.
collection PubMed
description 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.
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spelling pubmed-100538632023-03-30 Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review Talantseva, Oksana I. Portnova, Galina V. Romanova, Raisa S. Martynova, Daria A. Sysoeva, Olga V. Grigorenko, Elena L. J Pers Med Case Report 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. MDPI 2023-02-28 /pmc/articles/PMC10053863/ /pubmed/36983620 http://dx.doi.org/10.3390/jpm13030439 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Talantseva, Oksana I.
Portnova, Galina V.
Romanova, Raisa S.
Martynova, Daria A.
Sysoeva, Olga V.
Grigorenko, Elena L.
Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review
title Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review
title_full Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review
title_fullStr Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review
title_full_unstemmed Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review
title_short Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review
title_sort does the potocki–lupski syndrome convey the autism spectrum disorder phenotype? case report and scoping review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10053863/
https://www.ncbi.nlm.nih.gov/pubmed/36983620
http://dx.doi.org/10.3390/jpm13030439
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