CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes / C. FRICANO-KUGLER in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 25p. Titre : CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes Type de document : Texte imprimé et/ou numérique Auteurs : C. FRICANO-KUGLER, Auteur ; A. GORDON, Auteur ; G. SHIN, Auteur ; K. GAO, Auteur ; J. NGUYEN, Auteur ; J. BERG, Auteur ; M. STARKS, Auteur ; Daniel H. GESCHWIND, Auteur Article en page(s) : 25p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Cyfip1  Dup15q  Fear conditioning  Mouse behavior  Neurodevelopmental disorders  RNA sequencing Index. décimale : PER Périodiques Résumé : Background: CYFIP1, a protein that interacts with FMRP and regulates protein synthesis and actin dynamics, is overexpressed in Dup15q syndrome as well as autism spectrum disorder (ASD). While CYFIP1 heterozygosity has been rigorously studied due to its loss in 15q11.2 deletion, Prader-Willi and Angelman syndrome, the effects of CYFIP1 overexpression, as is observed in patients with CYFIP1 duplication, are less well understood. Methods: We developed and validated a mouse model of human CYFIP1 overexpression (CYFIP1 OE) using qPCR and western blot analysis. We performed a large battery of behavior testing on these mice, including ultrasonic vocalizations, three-chamber social assay, home-cage behavior, Y-maze, elevated plus maze, open field test, Morris water maze, fear conditioning, prepulse inhibition, and the hot plate assay. We also performed RNA sequencing and analysis on the basolateral amygdala. Results: Extensive behavioral testing in CYFIP1 OE mice reveals no changes in the core behaviors related to ASD: social interactions and repetitive behaviors. However, we did observe mild learning deficits and an exaggerated fear response. Using RNA sequencing of the basolateral amygdala, a region associated with fear response, we observed changes in pathways related to cytoskeletal regulation, oligodendrocytes, and myelination. We also identified GABA-A subunit composition changes in basolateral amygdala neurons, which are essential components of the neural fear conditioning circuit. Conclusion: Overall, this research identifies the behavioral and molecular consequences of CYFIP1 overexpression and how they contribute to the variable phenotype seen in Dup15q syndrome and in ASD patients with excess CYFIP1. En ligne : http://dx.doi.org/10.1186/s13229-019-0278-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes [Texte imprimé et/ou numérique] / C. FRICANO-KUGLER, Auteur ; A. GORDON, Auteur ; G. SHIN, Auteur ; K. GAO, Auteur ; J. NGUYEN, Auteur ; J. BERG, Auteur ; M. STARKS, Auteur ; Daniel H. GESCHWIND, Auteur . - 25p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 25p. Mots-clés : Autism spectrum disorder (ASD)  Cyfip1  Dup15q  Fear conditioning  Mouse behavior  Neurodevelopmental disorders  RNA sequencing Index. décimale : PER Périodiques Résumé : Background: CYFIP1, a protein that interacts with FMRP and regulates protein synthesis and actin dynamics, is overexpressed in Dup15q syndrome as well as autism spectrum disorder (ASD). While CYFIP1 heterozygosity has been rigorously studied due to its loss in 15q11.2 deletion, Prader-Willi and Angelman syndrome, the effects of CYFIP1 overexpression, as is observed in patients with CYFIP1 duplication, are less well understood. Methods: We developed and validated a mouse model of human CYFIP1 overexpression (CYFIP1 OE) using qPCR and western blot analysis. We performed a large battery of behavior testing on these mice, including ultrasonic vocalizations, three-chamber social assay, home-cage behavior, Y-maze, elevated plus maze, open field test, Morris water maze, fear conditioning, prepulse inhibition, and the hot plate assay. We also performed RNA sequencing and analysis on the basolateral amygdala. Results: Extensive behavioral testing in CYFIP1 OE mice reveals no changes in the core behaviors related to ASD: social interactions and repetitive behaviors. However, we did observe mild learning deficits and an exaggerated fear response. Using RNA sequencing of the basolateral amygdala, a region associated with fear response, we observed changes in pathways related to cytoskeletal regulation, oligodendrocytes, and myelination. We also identified GABA-A subunit composition changes in basolateral amygdala neurons, which are essential components of the neural fear conditioning circuit. Conclusion: Overall, this research identifies the behavioral and molecular consequences of CYFIP1 overexpression and how they contribute to the variable phenotype seen in Dup15q syndrome and in ASD patients with excess CYFIP1. En ligne : http://dx.doi.org/10.1186/s13229-019-0278-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

Examining the effect of a wearable, anxiety detection technology on improving the awareness of anxiety signs in autism spectrum disorder: a pilot randomized controlled trial / J. NGUYEN in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 72 p. Titre : Examining the effect of a wearable, anxiety detection technology on improving the awareness of anxiety signs in autism spectrum disorder: a pilot randomized controlled trial Type de document : Texte imprimé et/ou numérique Auteurs : J. NGUYEN, Auteur ; Robyn E. CARDY, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Jessica BRIAN, Auteur ; A. KUSHKI, Auteur Article en page(s) : 72 p. Langues : Anglais (eng) Mots-clés : Asd  Anxiety  Autism  Intervention  Wearables  commercialization, and will benefit financially from its sales. Index. décimale : PER Périodiques Résumé : BACKGROUND: Anxiety is prevalent in autism spectrum disorder (ASD) and can negatively impact physical and mental health. Self-awareness of anxiety signs is a key barrier to success of anxiety interventions for many children. METHODS: To address this, we conducted a randomized controlled trial to assess whether the Anxiety Meter, a wearable, real-time anxiety detection technology, can improve awareness of anxiety symptoms and the initiation of relaxation techniques in children with ASD. Twenty-eight children with ASD were trained on the use of the Anxiety Meter and taught a diaphragmatic breathing relaxation technique over three visits. On the fourth visit, participants were randomized to either receive feedback of their anxiety level or no feedback from the Anxiety Meter while completing a stress-eliciting task (public speaking) and asked to engage in deep breathing if anxious. RESULTS: Feedback from the Anxiety Meter was associated with increased likelihood of initiating deep breathing in response to anxiety. LIMITATIONS: Limitations include the small sample size, imbalanced group matching for IQ and sex, and the controlled-laboratory settings which limit the statistical power and generalizability of the results to real-world settings. CONCLUSIONS: Although these results are limited by the relatively small sample size, they support the feasibility of using a wearable device and real-time feedback to improve anxiety symptom awareness. Trial Registration ClinicalTrials.gov Identifier: NCT02160691, registration date: 06/05/2014. En ligne : http://dx.doi.org/10.1186/s13229-021-00477-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Examining the effect of a wearable, anxiety detection technology on improving the awareness of anxiety signs in autism spectrum disorder: a pilot randomized controlled trial [Texte imprimé et/ou numérique] / J. NGUYEN, Auteur ; Robyn E. CARDY, Auteur ; Evdokia ANAGNOSTOU, Auteur ; Jessica BRIAN, Auteur ; A. KUSHKI, Auteur . - 72 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 72 p. Mots-clés : Asd  Anxiety  Autism  Intervention  Wearables  commercialization, and will benefit financially from its sales. Index. décimale : PER Périodiques Résumé : BACKGROUND: Anxiety is prevalent in autism spectrum disorder (ASD) and can negatively impact physical and mental health. Self-awareness of anxiety signs is a key barrier to success of anxiety interventions for many children. METHODS: To address this, we conducted a randomized controlled trial to assess whether the Anxiety Meter, a wearable, real-time anxiety detection technology, can improve awareness of anxiety symptoms and the initiation of relaxation techniques in children with ASD. Twenty-eight children with ASD were trained on the use of the Anxiety Meter and taught a diaphragmatic breathing relaxation technique over three visits. On the fourth visit, participants were randomized to either receive feedback of their anxiety level or no feedback from the Anxiety Meter while completing a stress-eliciting task (public speaking) and asked to engage in deep breathing if anxious. RESULTS: Feedback from the Anxiety Meter was associated with increased likelihood of initiating deep breathing in response to anxiety. LIMITATIONS: Limitations include the small sample size, imbalanced group matching for IQ and sex, and the controlled-laboratory settings which limit the statistical power and generalizability of the results to real-world settings. CONCLUSIONS: Although these results are limited by the relatively small sample size, they support the feasibility of using a wearable device and real-time feedback to improve anxiety symptom awareness. Trial Registration ClinicalTrials.gov Identifier: NCT02160691, registration date: 06/05/2014. En ligne : http://dx.doi.org/10.1186/s13229-021-00477-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

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