Dépouillements

First evidence of sensory atypicality in mothers of children with Autism Spectrum Disorder (ASD) / Mirko ULJAREVIC in Molecular Autism, (April 2014)  

Public ISBD [article]  inMolecular Autism > (April 2014) . - p.1-4 Titre : First evidence of sensory atypicality in mothers of children with Autism Spectrum Disorder (ASD) Type de document : Texte imprimé et/ou numérique Auteurs : Mirko ULJAREVIC, Auteur ; Margot R. PRIOR, Auteur ; Susan R. LEEKAM, Auteur Article en page(s) : p.1-4 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Atypical reactions to sensory stimuli show heritability in the general population and are a known risk factor for affective disorders. As sensory problems are highly prevalent in individuals with ASD and their siblings, and the occurrence of affective disorders is elevated in parents of children with ASD, investigating sensory symptoms in parents is important both from clinical and theoretical standpoints. En ligne : http://dx.doi.org/10.1186/2040-2392-5-26 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] First evidence of sensory atypicality in mothers of children with Autism Spectrum Disorder (ASD) [Texte imprimé et/ou numérique] / Mirko ULJAREVIC, Auteur ; Margot R. PRIOR, Auteur ; Susan R. LEEKAM, Auteur . - p.1-4. Langues : Anglais (eng) in Molecular Autism > (April 2014) . - p.1-4 Index. décimale : PER Périodiques Résumé : Atypical reactions to sensory stimuli show heritability in the general population and are a known risk factor for affective disorders. As sensory problems are highly prevalent in individuals with ASD and their siblings, and the occurrence of affective disorders is elevated in parents of children with ASD, investigating sensory symptoms in parents is important both from clinical and theoretical standpoints. En ligne : http://dx.doi.org/10.1186/2040-2392-5-26 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

Uncovering steroidopathy in women with autism: a latent class analysis / Alexa POHL in Molecular Autism, (April 2014)  

Public ISBD [article]  inMolecular Autism > (April 2014) . - p.1-12 Titre : Uncovering steroidopathy in women with autism: a latent class analysis Type de document : Texte imprimé et/ou numérique Auteurs : Alexa POHL, Auteur ; Sarah A. CASSIDY, Auteur ; Bonnie AUYEUNG, Auteur ; Simon BARON-COHEN, Auteur Article en page(s) : p.1-12 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Prenatal exposure to increased androgens has been implicated in both polycystic ovary syndrome (PCOS) and autism spectrum conditions (ASC), suggesting that PCOS may be increased among women with ASC. One study suggested elevated steroidopathic symptoms (‘steroidopathy’) in women with ASC. As the symptoms are not independent, we conducted a latent class analysis (LCA). The objectives of the current study are: (1) to test if these findings replicate in a larger sample; and (2) to use LCA to uncover affected clusters of women with ASC. En ligne : http://dx.doi.org/10.1186/2040-2392-5-27 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Uncovering steroidopathy in women with autism: a latent class analysis [Texte imprimé et/ou numérique] / Alexa POHL, Auteur ; Sarah A. CASSIDY, Auteur ; Bonnie AUYEUNG, Auteur ; Simon BARON-COHEN, Auteur . - p.1-12. Langues : Anglais (eng) in Molecular Autism > (April 2014) . - p.1-12 Index. décimale : PER Périodiques Résumé : Prenatal exposure to increased androgens has been implicated in both polycystic ovary syndrome (PCOS) and autism spectrum conditions (ASC), suggesting that PCOS may be increased among women with ASC. One study suggested elevated steroidopathic symptoms (‘steroidopathy’) in women with ASC. As the symptoms are not independent, we conducted a latent class analysis (LCA). The objectives of the current study are: (1) to test if these findings replicate in a larger sample; and (2) to use LCA to uncover affected clusters of women with ASC. En ligne : http://dx.doi.org/10.1186/2040-2392-5-27 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders / Catarina T. CORREIA in Molecular Autism, (April 2014)  

Public ISBD [article]  inMolecular Autism > (April 2014) . - p.1-14 Titre : Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Catarina T. CORREIA, Auteur ; Inês C. CONCEIÇÃO, Auteur ; Bárbara OLIVEIRA, Auteur ; Joana COELHO, Auteur ; Inês SOUSA, Auteur ; Ana F. SEQUEIRA, Auteur ; Joana ALMEIDA, Auteur ; Cátia CAFÉ, Auteur ; Frederico DUQUE, Auteur ; Susana MOUGA, Auteur ; Wendy ROBERTS, Auteur ; Kun GAO, Auteur ; Jennifer K. LOWE, Auteur ; Bhooma THIRUVAHINDRAPURAM, Auteur ; Susan WALKER, Auteur ; Christian R. MARSHALL, Auteur ; Dalila PINTO, Auteur ; John I. NURNBERGER, Auteur ; Stephen SCHERER, Auteur ; Daniel H. GESCHWIND, Auteur ; Guiomar OLIVEIRA, Auteur ; Astrid M. VICENTE, Auteur Article en page(s) : p.1-14 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. En ligne : http://dx.doi.org/10.1186/2040-2392-5-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders [Texte imprimé et/ou numérique] / Catarina T. CORREIA, Auteur ; Inês C. CONCEIÇÃO, Auteur ; Bárbara OLIVEIRA, Auteur ; Joana COELHO, Auteur ; Inês SOUSA, Auteur ; Ana F. SEQUEIRA, Auteur ; Joana ALMEIDA, Auteur ; Cátia CAFÉ, Auteur ; Frederico DUQUE, Auteur ; Susana MOUGA, Auteur ; Wendy ROBERTS, Auteur ; Kun GAO, Auteur ; Jennifer K. LOWE, Auteur ; Bhooma THIRUVAHINDRAPURAM, Auteur ; Susan WALKER, Auteur ; Christian R. MARSHALL, Auteur ; Dalila PINTO, Auteur ; John I. NURNBERGER, Auteur ; Stephen SCHERER, Auteur ; Daniel H. GESCHWIND, Auteur ; Guiomar OLIVEIRA, Auteur ; Astrid M. VICENTE, Auteur . - p.1-14. Langues : Anglais (eng) in Molecular Autism > (April 2014) . - p.1-14 Index. décimale : PER Périodiques Résumé : Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. En ligne : http://dx.doi.org/10.1186/2040-2392-5-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

The Sensory Perception Quotient (SPQ): development and validation of a new sensory questionnaire for adults with and without autism / Teresa TAVASSOLI in Molecular Autism, (April 2014)  

Public ISBD [article]  inMolecular Autism > (April 2014) . - p.1-10 Titre : The Sensory Perception Quotient (SPQ): development and validation of a new sensory questionnaire for adults with and without autism Type de document : Texte imprimé et/ou numérique Auteurs : Teresa TAVASSOLI, Auteur ; Rosa A. HOEKSTRA, Auteur ; Simon BARON-COHEN, Auteur Article en page(s) : p.1-10 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Questionnaire-based studies suggest atypical sensory perception in over 90% of individuals with autism spectrum conditions (ASC). Sensory questionnaire-based studies in ASC mainly record parental reports of their child’s sensory experience; less is known about sensory reactivity in adults with ASC. Given the DSM-5 criteria for ASC now include sensory reactivity, there is a need for an adult questionnaire investigating basic sensory functioning. We aimed to develop and validate the Sensory Perception Quotient (SPQ), which assesses basic sensory hyper- and hyposensitivity across all five modalities. En ligne : http://dx.doi.org/10.1186/2040-2392-5-29 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] The Sensory Perception Quotient (SPQ): development and validation of a new sensory questionnaire for adults with and without autism [Texte imprimé et/ou numérique] / Teresa TAVASSOLI, Auteur ; Rosa A. HOEKSTRA, Auteur ; Simon BARON-COHEN, Auteur . - p.1-10. Langues : Anglais (eng) in Molecular Autism > (April 2014) . - p.1-10 Index. décimale : PER Périodiques Résumé : Questionnaire-based studies suggest atypical sensory perception in over 90% of individuals with autism spectrum conditions (ASC). Sensory questionnaire-based studies in ASC mainly record parental reports of their child’s sensory experience; less is known about sensory reactivity in adults with ASC. Given the DSM-5 criteria for ASC now include sensory reactivity, there is a need for an adult questionnaire investigating basic sensory functioning. We aimed to develop and validate the Sensory Perception Quotient (SPQ), which assesses basic sensory hyper- and hyposensitivity across all five modalities. En ligne : http://dx.doi.org/10.1186/2040-2392-5-29 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice / Xiaoming WANG in Molecular Autism, (April 2014)  

Public ISBD [article]  inMolecular Autism > (April 2014) . - p.1-14 Titre : Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice Type de document : Texte imprimé et/ou numérique Auteurs : Xiaoming WANG, Auteur ; Qiong XU, Auteur ; Alexandra L. BEY, Auteur ; Yoonji LEE, Auteur ; Yong-hui JIANG, Auteur Article en page(s) : p.1-14 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Considerable clinical heterogeneity has been well documented amongst individuals with autism spectrum disorders (ASD). However, little is known about the biological mechanisms underlying phenotypic diversity. Genetic studies have established a strong causal relationship between ASD and molecular defects in the SHANK3 gene. Individuals with various defects of SHANK3 display considerable clinical heterogeneity. Different lines of Shank3 mutant mice with deletions of different portions of coding exons have been reported recently. Variable synaptic and behavioral phenotypes have been reported in these mice, which makes the interpretations for these data complicated without the full knowledge of the complexity of the Shank3 transcript structure. En ligne : http://dx.doi.org/10.1186/2040-2392-5-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice [Texte imprimé et/ou numérique] / Xiaoming WANG, Auteur ; Qiong XU, Auteur ; Alexandra L. BEY, Auteur ; Yoonji LEE, Auteur ; Yong-hui JIANG, Auteur . - p.1-14. Langues : Anglais (eng) in Molecular Autism > (April 2014) . - p.1-14 Index. décimale : PER Périodiques Résumé : Considerable clinical heterogeneity has been well documented amongst individuals with autism spectrum disorders (ASD). However, little is known about the biological mechanisms underlying phenotypic diversity. Genetic studies have established a strong causal relationship between ASD and molecular defects in the SHANK3 gene. Individuals with various defects of SHANK3 display considerable clinical heterogeneity. Different lines of Shank3 mutant mice with deletions of different portions of coding exons have been reported recently. Variable synaptic and behavioral phenotypes have been reported in these mice, which makes the interpretations for these data complicated without the full knowledge of the complexity of the Shank3 transcript structure. En ligne : http://dx.doi.org/10.1186/2040-2392-5-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

Rare deleterious mutations of the gene EFR3A in autism spectrum disorders / Abha R. GUPTA in Molecular Autism, (April 2014)  

Public ISBD [article]  inMolecular Autism > (April 2014) . - p.1-14 Titre : Rare deleterious mutations of the gene EFR3A in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Abha R. GUPTA, Auteur ; Michelle PIRRUCCELLO, Auteur ; Feng CHENG, Auteur ; Hyo Jung KANG, Auteur ; Thomas V. FERNANDEZ, Auteur ; Jeremy M. BASKIN, Auteur ; Murim CHOI, Auteur ; Li LIU, Auteur ; Adife Gulhan ERCAN-SENCICEK, Auteur ; John D. MURDOCH, Auteur ; Lambertus KLEI, Auteur ; Benjamin M. NEALE, Auteur ; Daniel FRANJIC, Auteur ; Mark J. DALY, Auteur ; Richard P. LIFTON, Auteur ; Pietro DE CAMILLI, Auteur ; Hongyu ZHAO, Auteur ; Nenad ŠESTAN, Auteur ; Matthew W. STATE, Auteur Article en page(s) : p.1-14 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical component of a protein complex required for the synthesis of the phosphoinositide PtdIns4P, which has a variety of functions at the neural synapse. We hypothesized that deleterious mutations in EFR3A would be significantly associated with ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-31 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 [article] Rare deleterious mutations of the gene EFR3A in autism spectrum disorders [Texte imprimé et/ou numérique] / Abha R. GUPTA, Auteur ; Michelle PIRRUCCELLO, Auteur ; Feng CHENG, Auteur ; Hyo Jung KANG, Auteur ; Thomas V. FERNANDEZ, Auteur ; Jeremy M. BASKIN, Auteur ; Murim CHOI, Auteur ; Li LIU, Auteur ; Adife Gulhan ERCAN-SENCICEK, Auteur ; John D. MURDOCH, Auteur ; Lambertus KLEI, Auteur ; Benjamin M. NEALE, Auteur ; Daniel FRANJIC, Auteur ; Mark J. DALY, Auteur ; Richard P. LIFTON, Auteur ; Pietro DE CAMILLI, Auteur ; Hongyu ZHAO, Auteur ; Nenad ŠESTAN, Auteur ; Matthew W. STATE, Auteur . - p.1-14. Langues : Anglais (eng) in Molecular Autism > (April 2014) . - p.1-14 Index. décimale : PER Périodiques Résumé : Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical component of a protein complex required for the synthesis of the phosphoinositide PtdIns4P, which has a variety of functions at the neural synapse. We hypothesized that deleterious mutations in EFR3A would be significantly associated with ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-31 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276