Behavioral profiles of mouse models for autism spectrum disorders / Elodie EY in Autism Research, 4-1 (February 2011)  

Public ISBD [article]  inAutism Research > 4-1 (February 2011) . - p.5-16 Titre : Behavioral profiles of mouse models for autism spectrum disorders Type de document : texte imprimé Auteurs : Elodie EY, Auteur ; Claire S. LEBLOND, Auteur ; Thomas BOURGERON, Auteur Année de publication : 2011 Article en page(s) : p.5-16 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  mouse model  synaptic pathway  mTOR/PI3K pathway  behavior Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are characterized by impairments in reciprocal social communication, and stereotyped verbal and nonverbal behaviors. In approximately 10–25% of the affected individuals, a genetic mutation associated with the condition can be identified. Recently, mutations altering synapse formation, cellular/synaptic growth rate and regulation of excitatory and inhibitory currents were identified in patients with intellectual disability, typical autism, Asperger syndrome or neurological syndromes associated with autistic traits. Following these genetic findings, mouse models carrying mutations similar to those identified in patients have been generated. These models offer the opportunity to investigate in vivo the physiological and behavioral consequences of the mutations. Here, we review the existing data on the phenotypes of mice carrying mutations in genes associated with ASD including neuroligin, neurexin and Shank mutant mice as well as the Fmr1, Mecp2, Ube3a, Nf1, Pten and Tsc1/Tsc2 mutant mice. The diversity and complexity of the phenotype of these mouse models reflect the broad range of phenotypes observed in patients with ASD. Remarkably, results from therapeutic approaches (e.g., modulation of gene expression, administration of pharmacological and nonpharmacological substances, enriched environment) are encouraging since some behavioral alterations could be reversed even when treatment was performed on adult mice. These ongoing studies should therefore increase our understanding of the biological alterations associated with ASD as well as the development of knowledge-based treatments. En ligne : http://dx.doi.org/10.1002/aur.175 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118 [article] Behavioral profiles of mouse models for autism spectrum disorders [texte imprimé] / Elodie EY, Auteur ; Claire S. LEBLOND, Auteur ; Thomas BOURGERON, Auteur . - 2011 . - p.5-16. Langues : Anglais (eng) in Autism Research > 4-1 (February 2011) . - p.5-16 Mots-clés : autism spectrum disorder  mouse model  synaptic pathway  mTOR/PI3K pathway  behavior Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are characterized by impairments in reciprocal social communication, and stereotyped verbal and nonverbal behaviors. In approximately 10–25% of the affected individuals, a genetic mutation associated with the condition can be identified. Recently, mutations altering synapse formation, cellular/synaptic growth rate and regulation of excitatory and inhibitory currents were identified in patients with intellectual disability, typical autism, Asperger syndrome or neurological syndromes associated with autistic traits. Following these genetic findings, mouse models carrying mutations similar to those identified in patients have been generated. These models offer the opportunity to investigate in vivo the physiological and behavioral consequences of the mutations. Here, we review the existing data on the phenotypes of mice carrying mutations in genes associated with ASD including neuroligin, neurexin and Shank mutant mice as well as the Fmr1, Mecp2, Ube3a, Nf1, Pten and Tsc1/Tsc2 mutant mice. The diversity and complexity of the phenotype of these mouse models reflect the broad range of phenotypes observed in patients with ASD. Remarkably, results from therapeutic approaches (e.g., modulation of gene expression, administration of pharmacological and nonpharmacological substances, enriched environment) are encouraging since some behavioral alterations could be reversed even when treatment was performed on adult mice. These ongoing studies should therefore increase our understanding of the biological alterations associated with ASD as well as the development of knowledge-based treatments. En ligne : http://dx.doi.org/10.1002/aur.175 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118

Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways / Julian TILLMANN ; Freddy CLIQUET ; Frédérique AMSELLEM ; Anna MARUANI ; Claire S. LEBLOND ; Anita BEGGIATO ; David GERMANAUD ; Anouck AMESTOY ; Myriam Ly LE-MOAL ; Daniel UMBRICHT ; Christopher H. CHATHAM ; Lorraine MURTAGH ; Manuel P. BOUVARD ; Marion LEBOYER ; Tony CHARMAN ; Thomas BOURGERON ; Richard DELORME ; Guillaume DUMAS ; EU-AIMS LEAP GROUP in Autism Research, 16-2 (February 2023)  

Public ISBD [article]  inAutism Research > 16-2 (February 2023) . - p.364-378 Titre : Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways Type de document : texte imprimé Auteurs : Julian TILLMANN, Auteur ; Freddy CLIQUET, Auteur ; Frédérique AMSELLEM, Auteur ; Anna MARUANI, Auteur ; Claire S. LEBLOND, Auteur ; Anita BEGGIATO, Auteur ; David GERMANAUD, Auteur ; Anouck AMESTOY, Auteur ; Myriam Ly LE-MOAL, Auteur ; Daniel UMBRICHT, Auteur ; Christopher H. CHATHAM, Auteur ; Lorraine MURTAGH, Auteur ; Manuel P. BOUVARD, Auteur ; Marion LEBOYER, Auteur ; Tony CHARMAN, Auteur ; Thomas BOURGERON, Auteur ; Richard DELORME, Auteur ; Guillaume DUMAS, Auteur ; EU-AIMS LEAP GROUP, Auteur Article en page(s) : p.364-378 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract As an integral part of autism spectrum symptoms, sensory processing issues including both hypo and hyper sensory sensitivities. These sensory specificities may result from an excitation/inhibition imbalance with a poorly understood of their level of convergence with genetic alterations in GABA-ergic and glutamatergic pathways. In our study, we aimed to characterize the hypo/hyper-sensory profile among autistic individuals. We then explored its link with the burden of deleterious mutations in a subset of individuals with available whole-genome sequencing data. To characterize the hypo/hyper-sensory profile, the differential Short Sensory Profile (dSSP) was defined as a normalized and centralized hypo/hypersensitivity ratio from the Short Sensory Profile (SSP). Including 1136 participants (533 autistic individuals, 210 first-degree relatives, and 267 controls) from two independent study samples (PARIS and LEAP), we observed a statistically significant dSSP mean difference between autistic individuals and controls, driven mostly by a high dSSP variability, with an intermediated profile represented by relatives. Our genetic analysis tended to associate the dSSP and the hyposensitivity with mutations of the GABAergic pathway. The major limitation was the dSSP difficulty to discriminate subjects with a similar quantum of hypo- and hyper-sensory symptoms to those with no such symptoms, resulting both in a similar ratio score of 0. However, the dSSP could be a relevant clinical score, and combined with additional sensory descriptions, genetics and endophenotypic substrates, will improve the exploration of the underlying neurobiological mechanisms of sensory processing differences in autism spectrum. En ligne : https://doi.org/10.1002/aur.2861 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=496 [article] Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways [texte imprimé] / Julian TILLMANN, Auteur ; Freddy CLIQUET, Auteur ; Frédérique AMSELLEM, Auteur ; Anna MARUANI, Auteur ; Claire S. LEBLOND, Auteur ; Anita BEGGIATO, Auteur ; David GERMANAUD, Auteur ; Anouck AMESTOY, Auteur ; Myriam Ly LE-MOAL, Auteur ; Daniel UMBRICHT, Auteur ; Christopher H. CHATHAM, Auteur ; Lorraine MURTAGH, Auteur ; Manuel P. BOUVARD, Auteur ; Marion LEBOYER, Auteur ; Tony CHARMAN, Auteur ; Thomas BOURGERON, Auteur ; Richard DELORME, Auteur ; Guillaume DUMAS, Auteur ; EU-AIMS LEAP GROUP, Auteur . - p.364-378. Langues : Anglais (eng) in Autism Research > 16-2 (February 2023) . - p.364-378 Index. décimale : PER Périodiques Résumé : Abstract As an integral part of autism spectrum symptoms, sensory processing issues including both hypo and hyper sensory sensitivities. These sensory specificities may result from an excitation/inhibition imbalance with a poorly understood of their level of convergence with genetic alterations in GABA-ergic and glutamatergic pathways. In our study, we aimed to characterize the hypo/hyper-sensory profile among autistic individuals. We then explored its link with the burden of deleterious mutations in a subset of individuals with available whole-genome sequencing data. To characterize the hypo/hyper-sensory profile, the differential Short Sensory Profile (dSSP) was defined as a normalized and centralized hypo/hypersensitivity ratio from the Short Sensory Profile (SSP). Including 1136 participants (533 autistic individuals, 210 first-degree relatives, and 267 controls) from two independent study samples (PARIS and LEAP), we observed a statistically significant dSSP mean difference between autistic individuals and controls, driven mostly by a high dSSP variability, with an intermediated profile represented by relatives. Our genetic analysis tended to associate the dSSP and the hyposensitivity with mutations of the GABAergic pathway. The major limitation was the dSSP difficulty to discriminate subjects with a similar quantum of hypo- and hyper-sensory symptoms to those with no such symptoms, resulting both in a similar ratio score of 0. However, the dSSP could be a relevant clinical score, and combined with additional sensory descriptions, genetics and endophenotypic substrates, will improve the exploration of the underlying neurobiological mechanisms of sensory processing differences in autism spectrum. En ligne : https://doi.org/10.1002/aur.2861 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=496

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