Associated features in females with an FMR1 premutation / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.30 Titre : Associated features in females with an FMR1 premutation Type de document : Texte imprimé et/ou numérique Auteurs : Anne C. WHEELER, Auteur ; Donald B. Jr BAILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; J. GREENBERG, Auteur ; M. LOSH, Auteur ; M. MAILICK, Auteur ; M. MILA, Auteur ; J. M. OLICHNEY, Auteur ; L. RODRIGUEZ-REVENGA, Auteur ; S. SHERMAN, Auteur ; L. SMITH, Auteur ; S. SUMMERS, Auteur ; J. C. YANG, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.30 Langues : Anglais (eng) Mots-clés : FMR1 premutation  fragile X  health risks Index. décimale : PER Périodiques Résumé : Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested. En ligne : http://dx.doi.org/10.1186/1866-1955-6-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Associated features in females with an FMR1 premutation [Texte imprimé et/ou numérique] / Anne C. WHEELER, Auteur ; Donald B. Jr BAILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; J. GREENBERG, Auteur ; M. LOSH, Auteur ; M. MAILICK, Auteur ; M. MILA, Auteur ; J. M. OLICHNEY, Auteur ; L. RODRIGUEZ-REVENGA, Auteur ; S. SHERMAN, Auteur ; L. SMITH, Auteur ; S. SUMMERS, Auteur ; J. C. YANG, Auteur ; Randi J. HAGERMAN, Auteur . - p.30. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.30 Mots-clés : FMR1 premutation  fragile X  health risks Index. décimale : PER Périodiques Résumé : Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested. En ligne : http://dx.doi.org/10.1186/1866-1955-6-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Association between autism spectrum disorder and inflammatory bowel disease: A systematic review and meta-analysis / J. Y. KIM in Autism Research, 15-2 (February 2022)  

Public ISBD [article]  inAutism Research > 15-2 (February 2022) . - p.340-352 Titre : Association between autism spectrum disorder and inflammatory bowel disease: A systematic review and meta-analysis Type de document : Texte imprimé et/ou numérique Auteurs : J. Y. KIM, Auteur ; M. J. CHOI, Auteur ; S. HA, Auteur ; J. HWANG, Auteur ; A. KOYANAGI, Auteur ; E. DRAGIOTI, Auteur ; J. RADUA, Auteur ; L. SMITH, Auteur ; L. JACOB, Auteur ; G. S. DE PABLO, Auteur ; S. W. LEE, Auteur ; D. K. YON, Auteur ; T. THOMPSON, Auteur ; S. CORTESE, Auteur ; G. LOLLO, Auteur ; C. S. LIANG, Auteur ; C. S. CHU, Auteur ; P. FUSAR-POLI, Auteur ; Keun-Ah CHEON, Auteur ; J. I. SHIN, Auteur ; M. SOLMI, Auteur Article en page(s) : p.340-352 Langues : Anglais (eng) Mots-clés : Crohn's disease  autism spectrum disorder  inflammatory bowel disease  meta-analysis  ulcerative colitis Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) are frequently diagnosed with co-occurring medical conditions including inflammatory bowel disease (IBD). To investigate the association, we conducted a systematic review registered in PROSPERO (ID:CRD42021236263) with a random-effects meta-analysis. We searched PubMed, Embase, and PsycInfo (last search on January 25, 2021), and manually searched relevant publications. We included observational studies measuring the association between ASD and IBD. The primary outcome was the association (odds ratio, OR) between ASD and later development of IBD. Sensitivity analyses were conducted by quality, confounding adjustment, and study design. We performed meta-regression analyses and assessed heterogeneity, publication bias, and quality of studies with the Newcastle-Ottawa Scale. Overall, we included six studies consisting of eight datasets, including over 11 million participants. We found that ASD was significantly associated with subsequent incident IBD (any IBD, OR = 1.66, 95% confidence interval[CI] = 1.25-2.21, p  En ligne : http://dx.doi.org/10.1002/aur.2656 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] Association between autism spectrum disorder and inflammatory bowel disease: A systematic review and meta-analysis [Texte imprimé et/ou numérique] / J. Y. KIM, Auteur ; M. J. CHOI, Auteur ; S. HA, Auteur ; J. HWANG, Auteur ; A. KOYANAGI, Auteur ; E. DRAGIOTI, Auteur ; J. RADUA, Auteur ; L. SMITH, Auteur ; L. JACOB, Auteur ; G. S. DE PABLO, Auteur ; S. W. LEE, Auteur ; D. K. YON, Auteur ; T. THOMPSON, Auteur ; S. CORTESE, Auteur ; G. LOLLO, Auteur ; C. S. LIANG, Auteur ; C. S. CHU, Auteur ; P. FUSAR-POLI, Auteur ; Keun-Ah CHEON, Auteur ; J. I. SHIN, Auteur ; M. SOLMI, Auteur . - p.340-352. Langues : Anglais (eng) in Autism Research > 15-2 (February 2022) . - p.340-352 Mots-clés : Crohn's disease  autism spectrum disorder  inflammatory bowel disease  meta-analysis  ulcerative colitis Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) are frequently diagnosed with co-occurring medical conditions including inflammatory bowel disease (IBD). To investigate the association, we conducted a systematic review registered in PROSPERO (ID:CRD42021236263) with a random-effects meta-analysis. We searched PubMed, Embase, and PsycInfo (last search on January 25, 2021), and manually searched relevant publications. We included observational studies measuring the association between ASD and IBD. The primary outcome was the association (odds ratio, OR) between ASD and later development of IBD. Sensitivity analyses were conducted by quality, confounding adjustment, and study design. We performed meta-regression analyses and assessed heterogeneity, publication bias, and quality of studies with the Newcastle-Ottawa Scale. Overall, we included six studies consisting of eight datasets, including over 11 million participants. We found that ASD was significantly associated with subsequent incident IBD (any IBD, OR = 1.66, 95% confidence interval[CI] = 1.25-2.21, p  En ligne : http://dx.doi.org/10.1002/aur.2656 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

Belief-attribution in adults with and without autistic spectrum disorders / E. E. F. BRADFORD in Autism Research, 11-11 (November 2018)  

Public ISBD [article]  inAutism Research > 11-11 (November 2018) . - p.1542-1553 Titre : Belief-attribution in adults with and without autistic spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : E. E. F. BRADFORD, Auteur ; V. HUKKER, Auteur ; L. SMITH, Auteur ; H. J. FERGUSON, Auteur Article en page(s) : p.1542-1553 Langues : Anglais (eng) Mots-clés : autistic spectrum disorders  belief-attribution  false-belief  perspective-taking  theory of mind Index. décimale : PER Périodiques Résumé : An important aspect of daily life is the ability to infer information about the contents of other people's minds, such as what they can see and what they know, in order to engage in successful interactions. This is referred to as possession of a "Theory of Mind" (ToM). Past research has shown that adults with Autistic Spectrum Disorders (ASD) often show deficits in social communication abilities, although can successfully pass tests of explicit ToM. The current study utilized a computerized false-belief task to explore subtle differences (i.e., measuring response times and accuracy rates) in how efficiently ToM capacities-specifically, belief-attribution-are utilized in adults with and without ASD. In the task, participants were asked to attribute a belief-state to either themselves or another person, following establishment of a true or false-belief scenario. Results revealed comparable patterns of ToM engagement across individuals with and without ASD, with faster and more accurate responses to "Self" versus "Other" oriented questions, and slower response times when shifting between the "Self" and "Other" perspective compared to when maintaining a perspective. However, autistic individuals showed a particular deficit in correctly identifying a belief-state in false-belief trials, in which two contrasting belief-states had to be held in mind, suggesting more difficulty disengaging from current, reality based belief-states than neuro-typical individuals. Autism Res 2018, 11: 1542-1553. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: To successfully communicate, we have to think about what other people do/do not know; this is called having a "Theory of Mind." This study looked at how well people use their Theory of Mind when thinking about the contents of people's minds. Results showed that people with autism had difficulties considering more than one mental state at a time, suggesting they may have more trouble in stopping themselves thinking about what is happening in reality than people without autism. En ligne : http://dx.doi.org/10.1002/aur.2032 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=370 [article] Belief-attribution in adults with and without autistic spectrum disorders [Texte imprimé et/ou numérique] / E. E. F. BRADFORD, Auteur ; V. HUKKER, Auteur ; L. SMITH, Auteur ; H. J. FERGUSON, Auteur . - p.1542-1553. Langues : Anglais (eng) in Autism Research > 11-11 (November 2018) . - p.1542-1553 Mots-clés : autistic spectrum disorders  belief-attribution  false-belief  perspective-taking  theory of mind Index. décimale : PER Périodiques Résumé : An important aspect of daily life is the ability to infer information about the contents of other people's minds, such as what they can see and what they know, in order to engage in successful interactions. This is referred to as possession of a "Theory of Mind" (ToM). Past research has shown that adults with Autistic Spectrum Disorders (ASD) often show deficits in social communication abilities, although can successfully pass tests of explicit ToM. The current study utilized a computerized false-belief task to explore subtle differences (i.e., measuring response times and accuracy rates) in how efficiently ToM capacities-specifically, belief-attribution-are utilized in adults with and without ASD. In the task, participants were asked to attribute a belief-state to either themselves or another person, following establishment of a true or false-belief scenario. Results revealed comparable patterns of ToM engagement across individuals with and without ASD, with faster and more accurate responses to "Self" versus "Other" oriented questions, and slower response times when shifting between the "Self" and "Other" perspective compared to when maintaining a perspective. However, autistic individuals showed a particular deficit in correctly identifying a belief-state in false-belief trials, in which two contrasting belief-states had to be held in mind, suggesting more difficulty disengaging from current, reality based belief-states than neuro-typical individuals. Autism Res 2018, 11: 1542-1553. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: To successfully communicate, we have to think about what other people do/do not know; this is called having a "Theory of Mind." This study looked at how well people use their Theory of Mind when thinking about the contents of people's minds. Results showed that people with autism had difficulties considering more than one mental state at a time, suggesting they may have more trouble in stopping themselves thinking about what is happening in reality than people without autism. En ligne : http://dx.doi.org/10.1002/aur.2032 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=370

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