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

Brief Report: Parental Age and the Sex Ratio in Autism / Alene ANELLO in Journal of Autism and Developmental Disorders, 39-10 (October 2009)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 39-10 (October 2009) . - p.1487-1492 Titre : Brief Report: Parental Age and the Sex Ratio in Autism Type de document : Texte imprimé et/ou numérique Auteurs : Alene ANELLO, Auteur ; Eric HOLLANDER, Auteur ; Christopher J. SMITH, Auteur ; Lauren KRYZAK, Auteur ; Abraham REICHENBERG, Auteur ; Jeremy M. SILVERMAN, Auteur ; Xiaodong LUO, Auteur ; James SCHMEIDLER, Auteur ; Connor M. PULEO, Auteur Année de publication : 2009 Article en page(s) : p.1487-1492 Langues : Anglais (eng) Mots-clés : Paternal-age Maternal-age Sex-ratio Genetics Genomic-anomalies Copy-number-variants Index. décimale : PER Périodiques Résumé : The male-to-female (M:F) ratio for autism spectrum disorders (ASD), typically about 4:1, appears to decrease with increasing paternal age, but this relationship has not been systematically tested. With 393 ASD cases from families with two or more ASD cases, we categorized paternal age into five age groups (<30, 30–34, 35–39, 40–44, 45+) and found that the M:F ratio was significantly decreased with increasing paternal age groups and remained so after also adjusting for maternal age. No significant relationship between maternal age group and the M:F ratio was observed. This study suggests that the M:F ratio is reduced with increasing paternal age consistent with de novo genetic or genomic anomalies arising more frequently as men age and then conceive children. En ligne : http://dx.doi.org/10.1007/s10803-009-0755-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=840 [article] Brief Report: Parental Age and the Sex Ratio in Autism [Texte imprimé et/ou numérique] / Alene ANELLO, Auteur ; Eric HOLLANDER, Auteur ; Christopher J. SMITH, Auteur ; Lauren KRYZAK, Auteur ; Abraham REICHENBERG, Auteur ; Jeremy M. SILVERMAN, Auteur ; Xiaodong LUO, Auteur ; James SCHMEIDLER, Auteur ; Connor M. PULEO, Auteur . - 2009 . - p.1487-1492. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 39-10 (October 2009) . - p.1487-1492 Mots-clés : Paternal-age Maternal-age Sex-ratio Genetics Genomic-anomalies Copy-number-variants Index. décimale : PER Périodiques Résumé : The male-to-female (M:F) ratio for autism spectrum disorders (ASD), typically about 4:1, appears to decrease with increasing paternal age, but this relationship has not been systematically tested. With 393 ASD cases from families with two or more ASD cases, we categorized paternal age into five age groups (<30, 30–34, 35–39, 40–44, 45+) and found that the M:F ratio was significantly decreased with increasing paternal age groups and remained so after also adjusting for maternal age. No significant relationship between maternal age group and the M:F ratio was observed. This study suggests that the M:F ratio is reduced with increasing paternal age consistent with de novo genetic or genomic anomalies arising more frequently as men age and then conceive children. En ligne : http://dx.doi.org/10.1007/s10803-009-0755-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=840

Neuropathology of the posteroinferior occipitotemporal gyrus in children with autism / Neha UPPAL in Molecular Autism, (February 2014)  

Public ISBD [article]  inMolecular Autism > (February 2014) Titre : Neuropathology of the posteroinferior occipitotemporal gyrus in children with autism Type de document : Texte imprimé et/ou numérique Auteurs : Neha UPPAL, Auteur ; Isabella GIANATIEMPO, Auteur ; Bridget WICINSKI, Auteur ; James SCHMEIDLER, Auteur ; Helmut HEINSEN, Auteur ; Christoph SCHMITZ, Auteur ; Joseph D. BUXBAUM, Auteur ; Patrick R. HOF, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : While most neuropathologic studies focus on regions involved in behavioral abnormalities in autism, it is also important to identify whether areas that appear functionally normal are devoid of pathologic alterations. In this study we analyzed the posteroinferior occipitotemporal gyrus, an extrastriate area not considered to be affected in autism. This area borders the fusiform gyrus, which is known to exhibit functional and cellular abnormalities in autism.FINDINGS:No studies have implicated posteroinferior occipitotemporal gyrus dysfunction in autism, leading us to hypothesize that neuropathology would not occur in this area. We indeed observed no significant differences in pyramidal neuron number or size in layers III, V, and VI in seven pairs of autism and controls. These findings are consistent with the hypothesis that neuropathology is unique to areas involved in stereotypies and social and emotional behaviors, and support the specificity of the localization of pathology in the fusiform gyrus. En ligne : http://dx.doi.org/10.1186/2040-2392-5-17 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] Neuropathology of the posteroinferior occipitotemporal gyrus in children with autism [Texte imprimé et/ou numérique] / Neha UPPAL, Auteur ; Isabella GIANATIEMPO, Auteur ; Bridget WICINSKI, Auteur ; James SCHMEIDLER, Auteur ; Helmut HEINSEN, Auteur ; Christoph SCHMITZ, Auteur ; Joseph D. BUXBAUM, Auteur ; Patrick R. HOF, Auteur. Langues : Anglais (eng) in Molecular Autism > (February 2014) Index. décimale : PER Périodiques Résumé : While most neuropathologic studies focus on regions involved in behavioral abnormalities in autism, it is also important to identify whether areas that appear functionally normal are devoid of pathologic alterations. In this study we analyzed the posteroinferior occipitotemporal gyrus, an extrastriate area not considered to be affected in autism. This area borders the fusiform gyrus, which is known to exhibit functional and cellular abnormalities in autism.FINDINGS:No studies have implicated posteroinferior occipitotemporal gyrus dysfunction in autism, leading us to hypothesize that neuropathology would not occur in this area. We indeed observed no significant differences in pyramidal neuron number or size in layers III, V, and VI in seven pairs of autism and controls. These findings are consistent with the hypothesis that neuropathology is unique to areas involved in stereotypies and social and emotional behaviors, and support the specificity of the localization of pathology in the fusiform gyrus. En ligne : http://dx.doi.org/10.1186/2040-2392-5-17 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

The Effect of an Autism-Associated Polymorphism in the STK39 Gene on the Autism Symptom Domains / Rick D. VAVOLIZZA in Journal of Autism and Developmental Disorders, 42-2 (February 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-2 (February 2012) . - p.319-320 Titre : The Effect of an Autism-Associated Polymorphism in the STK39 Gene on the Autism Symptom Domains Type de document : Texte imprimé et/ou numérique Auteurs : Rick D. VAVOLIZZA, Auteur ; James SCHMEIDLER, Auteur ; Nicolas RAMOZ, Auteur ; Joseph D. BUXBAUM, Auteur ; Christopher J. SMITH, Auteur ; Jeremy M. SILVERMAN, Auteur Année de publication : 2012 Article en page(s) : p.319-320 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-011-1226-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=151 [article] The Effect of an Autism-Associated Polymorphism in the STK39 Gene on the Autism Symptom Domains [Texte imprimé et/ou numérique] / Rick D. VAVOLIZZA, Auteur ; James SCHMEIDLER, Auteur ; Nicolas RAMOZ, Auteur ; Joseph D. BUXBAUM, Auteur ; Christopher J. SMITH, Auteur ; Jeremy M. SILVERMAN, Auteur . - 2012 . - p.319-320. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-2 (February 2012) . - p.319-320 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-011-1226-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=151

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