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

Brief Report: Phenotypic Differences and their Relationship to Paternal Age and Gender in Autism Spectrum Disorder / Esther VIERCK in Journal of Autism and Developmental Disorders, 45-6 (June 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-6 (June 2015) . - p.1915-1924 Titre : Brief Report: Phenotypic Differences and their Relationship to Paternal Age and Gender in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Esther VIERCK, Auteur ; Jeremy M. SILVERMAN, Auteur Article en page(s) : p.1915-1924 Langues : Anglais (eng) Mots-clés : Autism  De novo mutations  Paternal age  Phenotype  Maternal age Index. décimale : PER Périodiques Résumé : Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic differences. To test this possibility we measured IQ, adaptive behavior, and autistic symptoms in 830 probands from simplex families. We conducted multiple linear regression analysis to estimate the predictive value of paternal age, maternal age, and gender on behavioral measures and IQ. We found a differential effect of parental age and sex on repetitive and restricted behaviors. Findings suggest effects of paternal age on phenotypic differences in simplex families with ASD. En ligne : http://dx.doi.org/10.1007/s10803-014-2346-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259 [article] Brief Report: Phenotypic Differences and their Relationship to Paternal Age and Gender in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Esther VIERCK, Auteur ; Jeremy M. SILVERMAN, Auteur . - p.1915-1924. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-6 (June 2015) . - p.1915-1924 Mots-clés : Autism  De novo mutations  Paternal age  Phenotype  Maternal age Index. décimale : PER Périodiques Résumé : Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic differences. To test this possibility we measured IQ, adaptive behavior, and autistic symptoms in 830 probands from simplex families. We conducted multiple linear regression analysis to estimate the predictive value of paternal age, maternal age, and gender on behavioral measures and IQ. We found a differential effect of parental age and sex on repetitive and restricted behaviors. Findings suggest effects of paternal age on phenotypic differences in simplex families with ASD. En ligne : http://dx.doi.org/10.1007/s10803-014-2346-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=259

Familial associations of intense preoccupations, an empirical factor of the restricted, repetitive behaviors and interests domain of autism / Christopher J. SMITH in Journal of Child Psychology and Psychiatry, 50-8 (August 2009)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 50-8 (August 2009) . - p.982-990 Titre : Familial associations of intense preoccupations, an empirical factor of the restricted, repetitive behaviors and interests domain of autism Type de document : Texte imprimé et/ou numérique Auteurs : Christopher J. SMITH, Auteur ; Eric HOLLANDER, Auteur ; Colleen M. LANG, Auteur ; Lauren KRYZAK, Auteur ; Abraham REICHENBERG, Auteur ; Jeremy M. SILVERMAN, Auteur Année de publication : 2009 Article en page(s) : p.982-990 Langues : Anglais (eng) Mots-clés : Developmental-delay family-factors fathers genetics autistic-disorder Index. décimale : PER Périodiques Résumé : Background: Clinical heterogeneity of autism likely hinders efforts to find genes associated with this complex psychiatric disorder. Some studies have produced promising results by restricting the sample according to the expression of specific familial factors or components of autism. Previous factor analyses of the restricted, repetitive behaviors and interest (RRBI) domain of autism have consistently identified a two-factor model that explains a moderate amount of variance. The identification of additional factors may explain more variance in the RRBI domain and provide an additional component of autism that may help in the identification of underlying genetic association. Methods: We conducted factor analyses of RRBI symptoms with a sample that included verbal subjects meeting full criteria for autism aged 5 to 22 years (n = 245). Among affected sibling pairs (n = 126) we examined the familial aggregation of the identified factors. We also examined the associations of the factors with autism-related personality traits in fathers and mothers (n = 50). Results: The previously identified two-factor model – insistence on sameness (IS) and repetitive stereotypic motor behaviors (RSMB) – was replicated in our sample. Next, a second factor analysis that included the item for verbal rituals resulted in a four-factor model – IS, 'simple' RSMB, 'complex' RSMB, and a fourth factor including symptoms associated with intense preoccupations (IP). Of these four, both IS and IP were significantly familial among affected siblings, but only IP was significantly correlated with the broader autism phenotype traits of rigidity and aloofness in fathers. Conclusions: The results support previous evidence for the IS factor, its familiality, and the identification of IP as an additional strong candidate trait for genetic studies of autism. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2009.02060.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=788 [article] Familial associations of intense preoccupations, an empirical factor of the restricted, repetitive behaviors and interests domain of autism [Texte imprimé et/ou numérique] / Christopher J. SMITH, Auteur ; Eric HOLLANDER, Auteur ; Colleen M. LANG, Auteur ; Lauren KRYZAK, Auteur ; Abraham REICHENBERG, Auteur ; Jeremy M. SILVERMAN, Auteur . - 2009 . - p.982-990. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 50-8 (August 2009) . - p.982-990 Mots-clés : Developmental-delay family-factors fathers genetics autistic-disorder Index. décimale : PER Périodiques Résumé : Background: Clinical heterogeneity of autism likely hinders efforts to find genes associated with this complex psychiatric disorder. Some studies have produced promising results by restricting the sample according to the expression of specific familial factors or components of autism. Previous factor analyses of the restricted, repetitive behaviors and interest (RRBI) domain of autism have consistently identified a two-factor model that explains a moderate amount of variance. The identification of additional factors may explain more variance in the RRBI domain and provide an additional component of autism that may help in the identification of underlying genetic association. Methods: We conducted factor analyses of RRBI symptoms with a sample that included verbal subjects meeting full criteria for autism aged 5 to 22 years (n = 245). Among affected sibling pairs (n = 126) we examined the familial aggregation of the identified factors. We also examined the associations of the factors with autism-related personality traits in fathers and mothers (n = 50). Results: The previously identified two-factor model – insistence on sameness (IS) and repetitive stereotypic motor behaviors (RSMB) – was replicated in our sample. Next, a second factor analysis that included the item for verbal rituals resulted in a four-factor model – IS, 'simple' RSMB, 'complex' RSMB, and a fourth factor including symptoms associated with intense preoccupations (IP). Of these four, both IS and IP were significantly familial among affected siblings, but only IP was significantly correlated with the broader autism phenotype traits of rigidity and aloofness in fathers. Conclusions: The results support previous evidence for the IS factor, its familiality, and the identification of IP as an additional strong candidate trait for genetic studies of autism. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2009.02060.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=788

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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