Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology

A diagnosis of autism spectrum disorder is reported in up to 19% of dystrophinopathies. However, over the last ten years, only a few papers have been published on this topic. Therefore, further studies are required to analyze this association in depth and ultimately to understand the role of the bra...

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Autores principales: Simone, Marta, Margari, Lucia, Pompamea, Francesco, De Giacomo, Andrea, Gabellone, Alessandra, Marzulli, Lucia, Palumbi, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509154/
https://www.ncbi.nlm.nih.gov/pubmed/34640386
http://dx.doi.org/10.3390/jcm10194370
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author Simone, Marta
Margari, Lucia
Pompamea, Francesco
De Giacomo, Andrea
Gabellone, Alessandra
Marzulli, Lucia
Palumbi, Roberto
author_facet Simone, Marta
Margari, Lucia
Pompamea, Francesco
De Giacomo, Andrea
Gabellone, Alessandra
Marzulli, Lucia
Palumbi, Roberto
author_sort Simone, Marta
collection PubMed
description A diagnosis of autism spectrum disorder is reported in up to 19% of dystrophinopathies. However, over the last ten years, only a few papers have been published on this topic. Therefore, further studies are required to analyze this association in depth and ultimately to understand the role of the brain dystrophin isoform in the pathogenesis of ASD and other neurodevelopmental disorders. In this paper, we report a clinical case of a patient affected by ASD and Duchenne muscular dystrophy, who carries a large deletion of the dystrophin gene. Then we present a brief overview of the literature about similar cases and about the potential role of the dystrophin protein in the neurobiology of autism spectrum disorder.
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spelling pubmed-85091542021-10-13 Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology Simone, Marta Margari, Lucia Pompamea, Francesco De Giacomo, Andrea Gabellone, Alessandra Marzulli, Lucia Palumbi, Roberto J Clin Med Case Report A diagnosis of autism spectrum disorder is reported in up to 19% of dystrophinopathies. However, over the last ten years, only a few papers have been published on this topic. Therefore, further studies are required to analyze this association in depth and ultimately to understand the role of the brain dystrophin isoform in the pathogenesis of ASD and other neurodevelopmental disorders. In this paper, we report a clinical case of a patient affected by ASD and Duchenne muscular dystrophy, who carries a large deletion of the dystrophin gene. Then we present a brief overview of the literature about similar cases and about the potential role of the dystrophin protein in the neurobiology of autism spectrum disorder. MDPI 2021-09-24 /pmc/articles/PMC8509154/ /pubmed/34640386 http://dx.doi.org/10.3390/jcm10194370 Text en © 2021 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
Simone, Marta
Margari, Lucia
Pompamea, Francesco
De Giacomo, Andrea
Gabellone, Alessandra
Marzulli, Lucia
Palumbi, Roberto
Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology
title Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology
title_full Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology
title_fullStr Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology
title_full_unstemmed Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology
title_short Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology
title_sort autism spectrum disorder and duchenne muscular dystrophy: a clinical case on the potential role of the dystrophin in autism neurobiology
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509154/
https://www.ncbi.nlm.nih.gov/pubmed/34640386
http://dx.doi.org/10.3390/jcm10194370
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