Advancing paternal age and simplex autism / Connor M. PULEO in Autism, 16-4 (July 2012)  

Public ISBD [article]  inAutism > 16-4 (July 2012) . - p.367-380 Titre : Advancing paternal age and simplex autism Type de document : Texte imprimé et/ou numérique Auteurs : Connor M. PULEO, Auteur ; James SCHMEIDLER, Auteur ; Abraham REICHENBERG, Auteur ; Alexander KOLEVZON, Auteur ; Latha V. SOORYA, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2012 Article en page(s) : p.367-380 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  de novo  multiplex  paternal age  sex differences  simplex Index. décimale : PER Périodiques Résumé : De novo events appear more common in female and simplex autism spectrum disorder (ASD) cases and may underlie greater ASD risk in older fathers’ offspring. This study examined whether advancing paternal age predicts an increase in simplex (n = 90) versus multiplex ASD cases (n = 587) in 677 participants (340 families). Whether or not controlling for maternal age, results support a significant interaction of linear paternal age and sex of the child on simplex family type. Female ASD cases were significantly more likely to be simplex as paternal age increased, but the increase for males was not significant. Findings suggest that ASD arising from non-familial, de novo events may be far less prominent in males than in females, even if more prevalent in males, due to the substantially larger number of male cases attributable to other, more strongly male-biased risk factors. En ligne : http://dx.doi.org/10.1177/1362361311427154 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 [article] Advancing paternal age and simplex autism [Texte imprimé et/ou numérique] / Connor M. PULEO, Auteur ; James SCHMEIDLER, Auteur ; Abraham REICHENBERG, Auteur ; Alexander KOLEVZON, Auteur ; Latha V. SOORYA, Auteur ; Joseph D. BUXBAUM, Auteur . - 2012 . - p.367-380. Langues : Anglais (eng) in Autism > 16-4 (July 2012) . - p.367-380 Mots-clés : autism spectrum disorder  de novo  multiplex  paternal age  sex differences  simplex Index. décimale : PER Périodiques Résumé : De novo events appear more common in female and simplex autism spectrum disorder (ASD) cases and may underlie greater ASD risk in older fathers’ offspring. This study examined whether advancing paternal age predicts an increase in simplex (n = 90) versus multiplex ASD cases (n = 587) in 677 participants (340 families). Whether or not controlling for maternal age, results support a significant interaction of linear paternal age and sex of the child on simplex family type. Female ASD cases were significantly more likely to be simplex as paternal age increased, but the increase for males was not significant. Findings suggest that ASD arising from non-familial, de novo events may be far less prominent in males than in females, even if more prevalent in males, due to the substantially larger number of male cases attributable to other, more strongly male-biased risk factors. En ligne : http://dx.doi.org/10.1177/1362361311427154 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178

Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats / Sarah JACOT-DESCOMBES in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) Titre : Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats Type de document : Texte imprimé et/ou numérique Auteurs : Sarah JACOT-DESCOMBES, Auteur ; Neha U. KESHAV, Auteur ; Dara L. DICKSTEIN, Auteur ; Bridget WICINSKI, Auteur ; William G. M. JANSSEN, Auteur ; Liam L. HIESTER, Auteur ; Edward K. SARFO, Auteur ; Tahia WARDA, Auteur ; Matthew M. FAM, Auteur ; Hala HARONY-NICOLAS, Auteur ; Joseph D. BUXBAUM, Auteur ; Patrick R. HOF, Auteur ; Merina VARGHESE, Auteur Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Electron microscopy  Phelan–McDermid syndrome  Synapse morphology Index. décimale : PER Périodiques Résumé : BACKGROUND: Deletion or mutations of SHANK3 lead to Phelan-McDermid syndrome and monogenic forms of autism spectrum disorder (ASD). SHANK3 encodes its eponymous scaffolding protein at excitatory glutamatergic synapses. Altered morphology of dendrites and spines in the hippocampus, cerebellum, and striatum have been associated with behavioral impairments in Shank3-deficient animal models. Given the attentional deficit in these animals, our study explored whether deficiency of Shank3 in a rat model alters neuron morphology and synaptic ultrastructure in the medial prefrontal cortex (mPFC). METHODS: We assessed dendrite and spine morphology and spine density in mPFC layer III neurons in Shank3-homozygous knockout (Shank3-KO), heterozygous (Shank3-Het), and wild-type (WT) rats. We used electron microscopy to determine the density of asymmetric synapses in mPFC layer III excitatory neurons in these rats. We measured postsynaptic density (PSD) length, PSD area, and head diameter (HD) of spines at these synapses. RESULTS: Basal dendritic morphology was similar among the three genotypes. Spine density and morphology were comparable, but more thin and mushroom spines had larger head volumes in Shank3-Het compared to WT and Shank3-KO. All three groups had comparable synapse density and PSD length. Spine HD of total and non-perforated synapses in Shank3-Het rats, but not Shank3-KO rats, was significantly larger than in WT rats. The total and non-perforated PSD area was significantly larger in Shank3-Het rats compared to Shank3-KO rats. These findings represent preliminary evidence for synaptic ultrastructural alterations in the mPFC of rats that lack one copy of Shank3 and mimic the heterozygous loss of SHANK3 in Phelan-McDermid syndrome. LIMITATIONS: The Shank3 deletion in the rat model we used does not affect all isoforms of the protein and would only model the effect of mutations resulting in loss of the N-terminus of the protein. Given the higher prevalence of ASD in males, the ultrastructural study focused only on synaptic structure in male Shank3-deficient rats. CONCLUSIONS: We observed increased HD and PSD area in Shank3-Het rats. These observations suggest the occurrence of altered synaptic ultrastructure in this animal model, further pointing to a key role of defective expression of the Shank3 protein in ASD and Phelan-McDermid syndrome. En ligne : http://dx.doi.org/10.1186/s13229-020-00393-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438 [article] Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats [Texte imprimé et/ou numérique] / Sarah JACOT-DESCOMBES, Auteur ; Neha U. KESHAV, Auteur ; Dara L. DICKSTEIN, Auteur ; Bridget WICINSKI, Auteur ; William G. M. JANSSEN, Auteur ; Liam L. HIESTER, Auteur ; Edward K. SARFO, Auteur ; Tahia WARDA, Auteur ; Matthew M. FAM, Auteur ; Hala HARONY-NICOLAS, Auteur ; Joseph D. BUXBAUM, Auteur ; Patrick R. HOF, Auteur ; Merina VARGHESE, Auteur. Langues : Anglais (eng) in Molecular Autism > 11 (2020) Mots-clés : Autism spectrum disorder  Electron microscopy  Phelan–McDermid syndrome  Synapse morphology Index. décimale : PER Périodiques Résumé : BACKGROUND: Deletion or mutations of SHANK3 lead to Phelan-McDermid syndrome and monogenic forms of autism spectrum disorder (ASD). SHANK3 encodes its eponymous scaffolding protein at excitatory glutamatergic synapses. Altered morphology of dendrites and spines in the hippocampus, cerebellum, and striatum have been associated with behavioral impairments in Shank3-deficient animal models. Given the attentional deficit in these animals, our study explored whether deficiency of Shank3 in a rat model alters neuron morphology and synaptic ultrastructure in the medial prefrontal cortex (mPFC). METHODS: We assessed dendrite and spine morphology and spine density in mPFC layer III neurons in Shank3-homozygous knockout (Shank3-KO), heterozygous (Shank3-Het), and wild-type (WT) rats. We used electron microscopy to determine the density of asymmetric synapses in mPFC layer III excitatory neurons in these rats. We measured postsynaptic density (PSD) length, PSD area, and head diameter (HD) of spines at these synapses. RESULTS: Basal dendritic morphology was similar among the three genotypes. Spine density and morphology were comparable, but more thin and mushroom spines had larger head volumes in Shank3-Het compared to WT and Shank3-KO. All three groups had comparable synapse density and PSD length. Spine HD of total and non-perforated synapses in Shank3-Het rats, but not Shank3-KO rats, was significantly larger than in WT rats. The total and non-perforated PSD area was significantly larger in Shank3-Het rats compared to Shank3-KO rats. These findings represent preliminary evidence for synaptic ultrastructural alterations in the mPFC of rats that lack one copy of Shank3 and mimic the heterozygous loss of SHANK3 in Phelan-McDermid syndrome. LIMITATIONS: The Shank3 deletion in the rat model we used does not affect all isoforms of the protein and would only model the effect of mutations resulting in loss of the N-terminus of the protein. Given the higher prevalence of ASD in males, the ultrastructural study focused only on synaptic structure in male Shank3-deficient rats. CONCLUSIONS: We observed increased HD and PSD area in Shank3-Het rats. These observations suggest the occurrence of altered synaptic ultrastructure in this animal model, further pointing to a key role of defective expression of the Shank3 protein in ASD and Phelan-McDermid syndrome. En ligne : http://dx.doi.org/10.1186/s13229-020-00393-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438

Altered tactile processing in children with autism spectrum disorder / Teresa TAVASSOLI in Autism Research, 9-6 (June 2016)  

Public ISBD [article]  inAutism Research > 9-6 (June 2016) . - p.616-620 Titre : Altered tactile processing in children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Teresa TAVASSOLI, Auteur ; Katherine BELLESHEIM, Auteur ; Mark TOMMERDAHL, Auteur ; Jameson M. HOLDEN, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur Article en page(s) : p.616-620 Langues : Anglais (eng) Mots-clés : tactile processing  inhibition  autism spectrum disorder  GABA Index. décimale : PER Périodiques Résumé : Although tactile reactivity issues are commonly reported in children with autism spectrum disorder (ASD), the underlying mechanisms are poorly understood. Less feed-forward inhibition has been proposed as a potential mechanism for some symptoms of ASD. We tested static and dynamic tactile thresholds as a behavioral proxy of feed-forward inhibition in 42 children (21 children with ASD and 21 typically developing [TD] children). Subthreshold conditioning typically raises the dynamic detection threshold, thus comparison of the dynamic to the static threshold generates a metric that predicts gamma-aminobutyric acid (GABA) mediated feed-forward inhibition. Children with ASD had marginally higher static thresholds and a significantly lower ratio between thresholds as compared with TD children. The lower ratio, only seen in children with ASD, might be indicative of less inhibition. Static thresholds were correlated with autism spectrum quotient scores, indicating the higher the tactile threshold, the more ASD traits. The amount of feed-forward inhibition (ratio between dynamic/static) was negatively correlated with autism diagnostic observation schedule repetitive behavior scores, meaning the less inhibition the more ASD symptoms. In summary, children with ASD showed altered tactile processing compared with TD children; thus measuring static and dynamic thresholds could be a potential biomarker for ASD and might be useful for prediction of treatment response with therapeutics, including those that target the GABAergic system. Autism Res 2016, 9: 616–620. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1563 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=290 [article] Altered tactile processing in children with autism spectrum disorder [Texte imprimé et/ou numérique] / Teresa TAVASSOLI, Auteur ; Katherine BELLESHEIM, Auteur ; Mark TOMMERDAHL, Auteur ; Jameson M. HOLDEN, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur . - p.616-620. Langues : Anglais (eng) in Autism Research > 9-6 (June 2016) . - p.616-620 Mots-clés : tactile processing  inhibition  autism spectrum disorder  GABA Index. décimale : PER Périodiques Résumé : Although tactile reactivity issues are commonly reported in children with autism spectrum disorder (ASD), the underlying mechanisms are poorly understood. Less feed-forward inhibition has been proposed as a potential mechanism for some symptoms of ASD. We tested static and dynamic tactile thresholds as a behavioral proxy of feed-forward inhibition in 42 children (21 children with ASD and 21 typically developing [TD] children). Subthreshold conditioning typically raises the dynamic detection threshold, thus comparison of the dynamic to the static threshold generates a metric that predicts gamma-aminobutyric acid (GABA) mediated feed-forward inhibition. Children with ASD had marginally higher static thresholds and a significantly lower ratio between thresholds as compared with TD children. The lower ratio, only seen in children with ASD, might be indicative of less inhibition. Static thresholds were correlated with autism spectrum quotient scores, indicating the higher the tactile threshold, the more ASD traits. The amount of feed-forward inhibition (ratio between dynamic/static) was negatively correlated with autism diagnostic observation schedule repetitive behavior scores, meaning the less inhibition the more ASD symptoms. In summary, children with ASD showed altered tactile processing compared with TD children; thus measuring static and dynamic thresholds could be a potential biomarker for ASD and might be useful for prediction of treatment response with therapeutics, including those that target the GABAergic system. Autism Res 2016, 9: 616–620. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1563 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=290

An overview of the genetics of autism spectrum disorders / Joseph D. BUXBAUM

Public ISBD in The Autisms / Craig M. POWELL Titre : An overview of the genetics of autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Joseph D. BUXBAUM, Auteur Année de publication : 2013 Importance : p.46-56 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 in The Autisms / Craig M. POWELL An overview of the genetics of autism spectrum disorders [Texte imprimé et/ou numérique] / Joseph D. BUXBAUM, Auteur . - 2013 . - p.46-56. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189

Exemplaires

Code-barres	Cote	Support	Localisation	Section	Disponibilité
aucun exemplaire

Animal Models for Neurodevelopmental Disorders / Hala HARONY-NICOLAS

Public ISBD in The Genetics of Neurodevelopmental Disorders / Kevin J. MITCHELL Titre : Animal Models for Neurodevelopmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Hala HARONY-NICOLAS, Auteur ; Joseph D. BUXBAUM, Auteur Année de publication : 2015 Importance : p.261-274 Langues : Anglais (eng) Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 in The Genetics of Neurodevelopmental Disorders / Kevin J. MITCHELL Animal Models for Neurodevelopmental Disorders [Texte imprimé et/ou numérique] / Hala HARONY-NICOLAS, Auteur ; Joseph D. BUXBAUM, Auteur . - 2015 . - p.261-274. Langues : Anglais (eng) Index. décimale : SCI-B SCI-B - Génétique Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400

Exemplaires

Code-barres	Cote	Support	Localisation	Section	Disponibilité
aucun exemplaire

Assessing the utility of electronic measures as a proxy for cognitive ability / Tess LEVY in Autism Research, 15-6 (June 2022)  

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Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism / Christine HONSBERGER ; Nathaniel A. SHANOK ; Erin Brooker LOZOTT ; Tess LEVY ; Alexander KOLEVZON ; Joseph D. BUXBAUM ; Marlene SOTELO ; Jennifer FOSS-FEIG ; Paige M. SIPER in Journal of Autism and Developmental Disorders, 54-2 (February 2024)  

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Brief Report: The Autism Mental Status Examination: Development of a Brief Autism-Focused Exam / David GRODBERG in Journal of Autism and Developmental Disorders, 42-3 (March 2012)  

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Candidate susceptibility genes for autism / Irina N. BESPALOVA

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Capping four years of growth of Molecular Autism: impact factor coming in 2014 / Joseph D. BUXBAUM in Molecular Autism, (December 2013)  

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A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD / Paige M. SIPER in Autism Research, 10-6 (June 2017)  

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DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics / Li LIU in Molecular Autism, (March 2014)  

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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations / S. DE RUBEIS in Molecular Autism, 9 (2018)  

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Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder / Elizabeth L. BERG in Autism Research, 11-4 (April 2018)  

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Did Hans Asperger actively assist the Nazi euthanasia program? / Simon BARON-COHEN in Molecular Autism, 9 (2018)  

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