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Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion

The authors report on a boy with dyslexia and attention deficit hyperactivity disorder. A protocol of standardized tests assessed the neuroadaptive profile, allowing deep neuropsychiatric phenotyping. In addition to the diagnosis of dyslexia and attention deficit hyperactivity disorder, such methodo...

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Autores principales: Galesi, Ornella, Di Blasi, Francesco Domenico, Grillo, Lucia, Elia, Flaviana, Giambirtone, Maria Concetta, Figura, Maria Grazia, Rizzo, Biagio, Buono, Serafino, Romano, Corrado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689888/
https://www.ncbi.nlm.nih.gov/pubmed/36360163
http://dx.doi.org/10.3390/genes13111926
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author Galesi, Ornella
Di Blasi, Francesco Domenico
Grillo, Lucia
Elia, Flaviana
Giambirtone, Maria Concetta
Figura, Maria Grazia
Rizzo, Biagio
Buono, Serafino
Romano, Corrado
author_facet Galesi, Ornella
Di Blasi, Francesco Domenico
Grillo, Lucia
Elia, Flaviana
Giambirtone, Maria Concetta
Figura, Maria Grazia
Rizzo, Biagio
Buono, Serafino
Romano, Corrado
author_sort Galesi, Ornella
collection PubMed
description The authors report on a boy with dyslexia and attention deficit hyperactivity disorder. A protocol of standardized tests assessed the neuroadaptive profile, allowing deep neuropsychiatric phenotyping. In addition to the diagnosis of dyslexia and attention deficit hyperactivity disorder, such methodology led to endeavor cognitive, adaptive, and academic skills. Chromosomal microarray analysis detected a 452.4 Kb de novo heterozygous microdeletion in chromosomal region 1p34.3, including seven OMIM genes. The authors took a thorough evaluation of the association to the phenotype of the deleted genes. Further reports could strengthen such association.
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spelling pubmed-96898882022-11-25 Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion Galesi, Ornella Di Blasi, Francesco Domenico Grillo, Lucia Elia, Flaviana Giambirtone, Maria Concetta Figura, Maria Grazia Rizzo, Biagio Buono, Serafino Romano, Corrado Genes (Basel) Case Report The authors report on a boy with dyslexia and attention deficit hyperactivity disorder. A protocol of standardized tests assessed the neuroadaptive profile, allowing deep neuropsychiatric phenotyping. In addition to the diagnosis of dyslexia and attention deficit hyperactivity disorder, such methodology led to endeavor cognitive, adaptive, and academic skills. Chromosomal microarray analysis detected a 452.4 Kb de novo heterozygous microdeletion in chromosomal region 1p34.3, including seven OMIM genes. The authors took a thorough evaluation of the association to the phenotype of the deleted genes. Further reports could strengthen such association. MDPI 2022-10-23 /pmc/articles/PMC9689888/ /pubmed/36360163 http://dx.doi.org/10.3390/genes13111926 Text en © 2022 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
Galesi, Ornella
Di Blasi, Francesco Domenico
Grillo, Lucia
Elia, Flaviana
Giambirtone, Maria Concetta
Figura, Maria Grazia
Rizzo, Biagio
Buono, Serafino
Romano, Corrado
Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion
title Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion
title_full Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion
title_fullStr Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion
title_full_unstemmed Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion
title_short Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion
title_sort dyslexia and attention deficit hyperactivity disorder associated to a de novo 1p34.3 microdeletion
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689888/
https://www.ncbi.nlm.nih.gov/pubmed/36360163
http://dx.doi.org/10.3390/genes13111926
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