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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 Poor synchronization yet adequate tempo-keeping in adults with autism / Keren Kasten in Autism Research, 16-6 (June 2023)
[article]
Titre : Poor synchronization yet adequate tempo-keeping in adults with autism Type de document : Texte imprimé et/ou numérique Auteurs : Keren Kasten, Auteur ; Nori Jacoby, Auteur ; Merav Ahissar, Auteur Article en page(s) : p.1161-1173 Langues : Anglais (eng) Mots-clés : adults auditory learning motor (control, system) sensory integration sequencing Index. décimale : PER Périodiques Résumé : Abstract Sensorimotor synchronization to external events is fundamental to social interactions. Adults with autism spectrum condition (ASC) have difficulty with synchronization, manifested in both social and non-social situations, such as paced finger-tapping tasks, where participants synchronize their taps to metronome beats. What limits ASC's synchronization is a matter of debate, especially whether it stems from reduced online correction of synchronization error (the ?slow update? account) or from noisy internal representations (the ?elevated internal noise? account). To test these opposing theories, we administered a synchronization-continuation tapping task, with and without tempo changes. Participants were asked to synchronize with the metronome and continue the tempo when it stopped. Since continuation is based only on internal representations, the slow update hypothesis predicts no difficulty, whereas the elevated noise hypothesis predicts similar or enhanced difficulties. Additionally, tempo changes were introduced, to assess whether adequate updating of internal representations to external changes is possible when given a longer temporal window for updating. We found that the ability to keep the metronome's tempo after it stopped did not differ between ASC and typically developing (TD) individuals. Importantly, when given a longer period to adapt to external changes, keeping a modified tempo was also similar in ASC. These results suggest that synchronization difficulties in ASC stem from slow update rather than elevated internal noise. En ligne : https://doi.org/10.1002/aur.2926 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=507
in Autism Research > 16-6 (June 2023) . - p.1161-1173[article] Poor synchronization yet adequate tempo-keeping in adults with autism [Texte imprimé et/ou numérique] / Keren Kasten, Auteur ; Nori Jacoby, Auteur ; Merav Ahissar, Auteur . - p.1161-1173.
Langues : Anglais (eng)
in Autism Research > 16-6 (June 2023) . - p.1161-1173
Mots-clés : adults auditory learning motor (control, system) sensory integration sequencing Index. décimale : PER Périodiques Résumé : Abstract Sensorimotor synchronization to external events is fundamental to social interactions. Adults with autism spectrum condition (ASC) have difficulty with synchronization, manifested in both social and non-social situations, such as paced finger-tapping tasks, where participants synchronize their taps to metronome beats. What limits ASC's synchronization is a matter of debate, especially whether it stems from reduced online correction of synchronization error (the ?slow update? account) or from noisy internal representations (the ?elevated internal noise? account). To test these opposing theories, we administered a synchronization-continuation tapping task, with and without tempo changes. Participants were asked to synchronize with the metronome and continue the tempo when it stopped. Since continuation is based only on internal representations, the slow update hypothesis predicts no difficulty, whereas the elevated noise hypothesis predicts similar or enhanced difficulties. Additionally, tempo changes were introduced, to assess whether adequate updating of internal representations to external changes is possible when given a longer temporal window for updating. We found that the ability to keep the metronome's tempo after it stopped did not differ between ASC and typically developing (TD) individuals. Importantly, when given a longer period to adapt to external changes, keeping a modified tempo was also similar in ASC. These results suggest that synchronization difficulties in ASC stem from slow update rather than elevated internal noise. En ligne : https://doi.org/10.1002/aur.2926 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=507