Pitt–Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo / Vladimir GRUBIÅ IĆ in Autism Research, 8-5 (October 2015)  

Public ISBD [article]  inAutism Research > 8-5 (October 2015) . - p.629-633 Titre : Pitt–Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo Type de document : texte imprimé Auteurs : Vladimir GRUBIÅ IĆ, Auteur ; Andrew KENNEDY, Auteur ; J. David SWEATT, Auteur ; Vladimir PARPURA, Auteur Article en page(s) : p.629-633 Langues : Anglais (eng) Mots-clés : PTHS mouse model  gut transit  TCF4  E2-2  ITF2 Index. décimale : PER Périodiques Résumé : Pitt–Hopkins syndrome (PTHS) is a neurodevelopmental disorder, classified as an autism spectrum disorder that is caused by the haploinsufficiency of Transcription Factor 4 (TCF4). The most common non-neurological symptoms in PTHS patients are gastrointestinal (GI) disturbances, mainly gastroesophageal reflux and severe constipation (in about 30 and 75% of PTHS patients, respectively). We hypothesized that the recently recognized mouse model of PTHS will exhibit problems with their gut function. We conducted series of in vivo tests on 15- to 19- week old male mice, heterozygous for the TCF4 functional deletion, mimicking the TCF4 haploinsufficiency in PTHS patients, and their wild type littermates. Data collection and initial analysis were performed blindly, that is, the genotyping key was received after the mean values were calculated for each individual animal, and then mean/median of each group was subsequently calculated. Body weight, fecal pellet output, and fluid content were similar between the groups, indicating normal gross growth of PTHS mice and their overall physiological GI motility and intestinal secretion/absorption. There were no significant differences in gut length and gross appearance pointing out that PTHS mice have normal gut in gross anatomical terms. However, the assessment of gut transit indicates that, while whole-gut transit velocity was similar between the groups, the upper GI and distal colon transit velocities were significantly reduced in the PTHS mice. This is the first evidence of specific gut related problems in the PTHS mice. Our study also validates the TCF4 functional knockout mice as an animal model to study PTHS-associated GI disturbances. Autism Res 2015, 8: 629–633. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1467 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270 [article] Pitt–Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo [texte imprimé] / Vladimir GRUBIÅ IĆ, Auteur ; Andrew KENNEDY, Auteur ; J. David SWEATT, Auteur ; Vladimir PARPURA, Auteur . - p.629-633. Langues : Anglais (eng) in Autism Research > 8-5 (October 2015) . - p.629-633 Mots-clés : PTHS mouse model  gut transit  TCF4  E2-2  ITF2 Index. décimale : PER Périodiques Résumé : Pitt–Hopkins syndrome (PTHS) is a neurodevelopmental disorder, classified as an autism spectrum disorder that is caused by the haploinsufficiency of Transcription Factor 4 (TCF4). The most common non-neurological symptoms in PTHS patients are gastrointestinal (GI) disturbances, mainly gastroesophageal reflux and severe constipation (in about 30 and 75% of PTHS patients, respectively). We hypothesized that the recently recognized mouse model of PTHS will exhibit problems with their gut function. We conducted series of in vivo tests on 15- to 19- week old male mice, heterozygous for the TCF4 functional deletion, mimicking the TCF4 haploinsufficiency in PTHS patients, and their wild type littermates. Data collection and initial analysis were performed blindly, that is, the genotyping key was received after the mean values were calculated for each individual animal, and then mean/median of each group was subsequently calculated. Body weight, fecal pellet output, and fluid content were similar between the groups, indicating normal gross growth of PTHS mice and their overall physiological GI motility and intestinal secretion/absorption. There were no significant differences in gut length and gross appearance pointing out that PTHS mice have normal gut in gross anatomical terms. However, the assessment of gut transit indicates that, while whole-gut transit velocity was similar between the groups, the upper GI and distal colon transit velocities were significantly reduced in the PTHS mice. This is the first evidence of specific gut related problems in the PTHS mice. Our study also validates the TCF4 functional knockout mice as an animal model to study PTHS-associated GI disturbances. Autism Res 2015, 8: 629–633. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1467 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270

The use of eye-tracking to explore social difficulties in cognitively able students with autism spectrum disorder: A pilot investigation / Mary HANLEY in Autism, 19-7 (October 2015)  

Public ISBD [article]  inAutism > 19-7 (October 2015) . - p.868-873 Titre : The use of eye-tracking to explore social difficulties in cognitively able students with autism spectrum disorder: A pilot investigation Type de document : texte imprimé Auteurs : Mary HANLEY, Auteur ; Debbie M. RIBY, Auteur ; Clare CARTY, Auteur ; Annie MELAUGH MCATEER, Auteur ; Andrew KENNEDY, Auteur ; Martin MCPHILLIPS, Auteur Année de publication : 2015 Article en page(s) : p.868-873 Langues : Anglais (eng) Mots-clés : autism  spectrum disorders  eye-tracking  high functioning  social attention  social awareness  social interaction Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder do not just ‘grow out of’ their early difficulties in understanding the social world. Even for those who are cognitively able, autism-related difficulties continue into adulthood. Atypicalities attending to and interpreting communicative signals from others can provide barriers to success in education, employment and relationships. In the current study, we use eye-tracking during real social interaction to explore attention to social cues (e.g. face, eyes, mouth) and links to social awareness in a group of cognitively able University students with autism spectrum disorder and typically developing students from the same University. During the interaction, students with autism spectrum disorder showed less eye fixation and more mouth fixation than typically developing students. Importantly, while 63% of typically developing participants reported thinking they were deceived about the true nature of the interaction, only 9% of autism spectrum disorder participants picked up this subtle social signal. We argue that understanding how these social attentional and social awareness difficulties manifest during adulthood is important given the growing number of adults with autism spectrum disorder who are attending higher level education. These adults may be particularly susceptible to drop-out due to demands of coping in situations where social awareness is so important. En ligne : http://dx.doi.org/10.1177/1362361315580767 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=269 [article] The use of eye-tracking to explore social difficulties in cognitively able students with autism spectrum disorder: A pilot investigation [texte imprimé] / Mary HANLEY, Auteur ; Debbie M. RIBY, Auteur ; Clare CARTY, Auteur ; Annie MELAUGH MCATEER, Auteur ; Andrew KENNEDY, Auteur ; Martin MCPHILLIPS, Auteur . - 2015 . - p.868-873. Langues : Anglais (eng) in Autism > 19-7 (October 2015) . - p.868-873 Mots-clés : autism  spectrum disorders  eye-tracking  high functioning  social attention  social awareness  social interaction Index. décimale : PER Périodiques Résumé : Individuals with autism spectrum disorder do not just ‘grow out of’ their early difficulties in understanding the social world. Even for those who are cognitively able, autism-related difficulties continue into adulthood. Atypicalities attending to and interpreting communicative signals from others can provide barriers to success in education, employment and relationships. In the current study, we use eye-tracking during real social interaction to explore attention to social cues (e.g. face, eyes, mouth) and links to social awareness in a group of cognitively able University students with autism spectrum disorder and typically developing students from the same University. During the interaction, students with autism spectrum disorder showed less eye fixation and more mouth fixation than typically developing students. Importantly, while 63% of typically developing participants reported thinking they were deceived about the true nature of the interaction, only 9% of autism spectrum disorder participants picked up this subtle social signal. We argue that understanding how these social attentional and social awareness difficulties manifest during adulthood is important given the growing number of adults with autism spectrum disorder who are attending higher level education. These adults may be particularly susceptible to drop-out due to demands of coping in situations where social awareness is so important. En ligne : http://dx.doi.org/10.1177/1362361315580767 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=269

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