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FOXP2 down expression is associated with executive dysfunctions and electrophysiological abnormalities of brain in Autism spectrum disorder; a neuroimaging genetic study / Arvin HAGHIGHATFARD in Autism & Developmental Language Impairments, 7 (January-December 2022)
[article]
Titre : FOXP2 down expression is associated with executive dysfunctions and electrophysiological abnormalities of brain in Autism spectrum disorder; a neuroimaging genetic study Type de document : Texte imprimé et/ou numérique Auteurs : Arvin HAGHIGHATFARD, Auteur ; Elham YAGHOUBI ASL, Auteur ; Rosita Azar BAHADORI, Auteur ; Rojina ALIABADIAN, Auteur ; Mahdi FARHADI, Auteur ; Fatemeh MOHAMMADPOUR, Auteur ; Zeinab TABRIZI, Auteur Langues : Anglais (eng) Mots-clés : ASD executive function electroencephalography FOXP2 sequencing gene expression Index. décimale : PER Périodiques Résumé : Background and aims Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by language impairment, and challenges with social interaction, communication, and repetitive behaviors. Although genetics are a primary cause of ASD, the exact genes and molecular mechanisms involved in its pathogenesis are not completely clear. The FOXP2 gene encodes a transcription factor that is known for its major role in language development and severe speech problems. The present study aimed to evaluate the role of FOXP2 in ASD etiology, executive functions, and brain activities. Methods In the present study, we recruited 450 children with ASD and 490 neurotypical control children. Three domains of executive functions (working memory, response inhibition, and vigilance) were assessed. In addition, five-minute eyes closed electroencephalography was obtained from some of the children with ASD and neurotypical children. DNA sequence and expression level of FOXP2 in blood samples of children with ASD and the control group were evaluated by using sequencing and Real-time PCR, respectively. Results The results showed no mutations but a significant down expression of FOXP2 genes in children with ASD vs. neurotypical children. Several cognitive and executive function deficiencies were detected in children with ASD. Low alpha and gamma bands in the frontal lobe and high theta bands in the occipital lobe were revealed in children with ASD. We also found several correlations between FOXP2 expression levels and clinical assessments. Conclusions Our finding revealed the down expression of FOXP2, which could be considered as a biomarker for ASD as well as cognitive and executive dysfunction. Based on brain mapping data, FOXP2 may be related to the theta wave abnormality of children with ASD. FOXP2 may be considered a target of novel treatment to improve memory and executive functions. Implications Our findings highlight the role of FOXP2 mRNA level in ASD etiology, executive functions, and brain wave frequencies. En ligne : http://dx.doi.org/10.1177/23969415221126391 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491
in Autism & Developmental Language Impairments > 7 (January-December 2022)[article] FOXP2 down expression is associated with executive dysfunctions and electrophysiological abnormalities of brain in Autism spectrum disorder; a neuroimaging genetic study [Texte imprimé et/ou numérique] / Arvin HAGHIGHATFARD, Auteur ; Elham YAGHOUBI ASL, Auteur ; Rosita Azar BAHADORI, Auteur ; Rojina ALIABADIAN, Auteur ; Mahdi FARHADI, Auteur ; Fatemeh MOHAMMADPOUR, Auteur ; Zeinab TABRIZI, Auteur.
Langues : Anglais (eng)
in Autism & Developmental Language Impairments > 7 (January-December 2022)
Mots-clés : ASD executive function electroencephalography FOXP2 sequencing gene expression Index. décimale : PER Périodiques Résumé : Background and aims Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by language impairment, and challenges with social interaction, communication, and repetitive behaviors. Although genetics are a primary cause of ASD, the exact genes and molecular mechanisms involved in its pathogenesis are not completely clear. The FOXP2 gene encodes a transcription factor that is known for its major role in language development and severe speech problems. The present study aimed to evaluate the role of FOXP2 in ASD etiology, executive functions, and brain activities. Methods In the present study, we recruited 450 children with ASD and 490 neurotypical control children. Three domains of executive functions (working memory, response inhibition, and vigilance) were assessed. In addition, five-minute eyes closed electroencephalography was obtained from some of the children with ASD and neurotypical children. DNA sequence and expression level of FOXP2 in blood samples of children with ASD and the control group were evaluated by using sequencing and Real-time PCR, respectively. Results The results showed no mutations but a significant down expression of FOXP2 genes in children with ASD vs. neurotypical children. Several cognitive and executive function deficiencies were detected in children with ASD. Low alpha and gamma bands in the frontal lobe and high theta bands in the occipital lobe were revealed in children with ASD. We also found several correlations between FOXP2 expression levels and clinical assessments. Conclusions Our finding revealed the down expression of FOXP2, which could be considered as a biomarker for ASD as well as cognitive and executive dysfunction. Based on brain mapping data, FOXP2 may be related to the theta wave abnormality of children with ASD. FOXP2 may be considered a target of novel treatment to improve memory and executive functions. Implications Our findings highlight the role of FOXP2 mRNA level in ASD etiology, executive functions, and brain wave frequencies. En ligne : http://dx.doi.org/10.1177/23969415221126391 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 ASD-relevant Animal Models of the Foxp Family of Transcription Factors / J. Michael BOWERS in Autism - Open Access, 2-S ([01/12/2012])
[article]
Titre : ASD-relevant Animal Models of the Foxp Family of Transcription Factors Type de document : Texte imprimé et/ou numérique Auteurs : J. Michael BOWERS, Auteur ; Genevieve KONOPKA, Auteur Article en page(s) : 7 p. Langues : Anglais (eng) Mots-clés : FOXP2 FOXP1 Autism Genetics Rodent vocalization Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder with a multifaceted association between genes and the environment. Currently, in the majority of patients, the etiology of autism is not known and coupled with increasing prevalence rates, along with the high degree of heritability of autism, the development of animal models is crucial for studying and developing therapies for autism. A key characteristic of autism is marked abnormalities in the acquisition and use of language. Thus, to understand and ultimately treat autism is an especially difficult task because no animal produces language, as it is defined in humans. In this review, we will discuss the FOXP family of genes, which are a group of transcription factors that have been linked to both autism, as well as language in humans. Due to the association of language/communication and the Foxp family of transcription factors, animal models with targeted disruptions of Foxp functioning are powerful tools for understanding the developmental signaling pathways that may be vulnerable in autism. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-010 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Autism - Open Access > 2-S [01/12/2012] . - 7 p.[article] ASD-relevant Animal Models of the Foxp Family of Transcription Factors [Texte imprimé et/ou numérique] / J. Michael BOWERS, Auteur ; Genevieve KONOPKA, Auteur . - 7 p.
Langues : Anglais (eng)
in Autism - Open Access > 2-S [01/12/2012] . - 7 p.
Mots-clés : FOXP2 FOXP1 Autism Genetics Rodent vocalization Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder with a multifaceted association between genes and the environment. Currently, in the majority of patients, the etiology of autism is not known and coupled with increasing prevalence rates, along with the high degree of heritability of autism, the development of animal models is crucial for studying and developing therapies for autism. A key characteristic of autism is marked abnormalities in the acquisition and use of language. Thus, to understand and ultimately treat autism is an especially difficult task because no animal produces language, as it is defined in humans. In this review, we will discuss the FOXP family of genes, which are a group of transcription factors that have been linked to both autism, as well as language in humans. Due to the association of language/communication and the Foxp family of transcription factors, animal models with targeted disruptions of Foxp functioning are powerful tools for understanding the developmental signaling pathways that may be vulnerable in autism. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-010 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 La dyspraxie verbale : trouble spécifique complexe du neurodéveloppement / Gérald BUSSY in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E., 110 (Décembre 2010)
[article]
Titre : La dyspraxie verbale : trouble spécifique complexe du neurodéveloppement Type de document : Texte imprimé et/ou numérique Auteurs : Gérald BUSSY, Auteur ; Stéphanie MARIGNIER, Auteur ; J. MARGUIN, Auteur ; G. LESCA, Auteur ; Aurore CURIE, Auteur ; Vincent DES PORTES, Auteur ; C. ROUSSELLE, Auteur Année de publication : 2010 Article en page(s) : p.377-382 Langues : Français (fre) Mots-clés : Dysphasie Dyspraxie Retard mental FOXP2 Apprentissage procédural Index. décimale : PER Périodiques Résumé : La dyspraxie verbale est un trouble spécifique du neurodéveloppement qui, en raison de ses caractéristiques symptomatiques, est souvent confondu avec la déficience intellectuelle. Afin de cerner ces difficultés diagnostiques et d’en comprendre la complexité, nous faisons une description clinique de ces troubles et de leurs origines. Ceci permettra de mettre en évidence les points communs et les points de divergence entre la dyspraxie verbale et le retard mental. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115
in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 110 (Décembre 2010) . - p.377-382[article] La dyspraxie verbale : trouble spécifique complexe du neurodéveloppement [Texte imprimé et/ou numérique] / Gérald BUSSY, Auteur ; Stéphanie MARIGNIER, Auteur ; J. MARGUIN, Auteur ; G. LESCA, Auteur ; Aurore CURIE, Auteur ; Vincent DES PORTES, Auteur ; C. ROUSSELLE, Auteur . - 2010 . - p.377-382.
Langues : Français (fre)
in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 110 (Décembre 2010) . - p.377-382
Mots-clés : Dysphasie Dyspraxie Retard mental FOXP2 Apprentissage procédural Index. décimale : PER Périodiques Résumé : La dyspraxie verbale est un trouble spécifique du neurodéveloppement qui, en raison de ses caractéristiques symptomatiques, est souvent confondu avec la déficience intellectuelle. Afin de cerner ces difficultés diagnostiques et d’en comprendre la complexité, nous faisons une description clinique de ces troubles et de leurs origines. Ceci permettra de mettre en évidence les points communs et les points de divergence entre la dyspraxie verbale et le retard mental. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115