Conversation Skills in Chinese-Speaking Preschoolers with Autism: The Contributing Role of Parents' Verbal Responsiveness / W. C. SO in Journal of Autism and Developmental Disorders, 52-3 (March 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1106-1119 Titre : Conversation Skills in Chinese-Speaking Preschoolers with Autism: The Contributing Role of Parents' Verbal Responsiveness Type de document : Texte imprimé et/ou numérique Auteurs : W. C. SO, Auteur ; X. K. SONG, Auteur ; C. H. CHENG, Auteur ; W. W. LAW, Auteur ; T. WONG, Auteur ; O. K. LEUNG, Auteur ; Y. HUANG, Auteur Article en page(s) : p.1106-1119 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Autistic Disorder  China  Humans  Language  Parents  Chinese-speaking  Conversation abilities  Intervention  Naturalistic language sampling  Parental inputs Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) have conversation deficits, yet the growth of conversation abilities is understudied, especially in Chinese-speaking populations. Little is known about whether their parents' verbal responsiveness and redirectives are related to their conversation skills. Children with ASD (N = 37; M = 5;5) and their parents contributed their language samples. These children interacted with their parents at four time points over nine months. The number of conversational turns and the proportion of child-initiated conversation (but not the proportion of children's appropriate responses) grew over nine months. After controlling for time, autism severity, and language skills, parents' verbal responsiveness positively predicted children's appropriate responses. Parents' redirectives negatively predicted the proportion of children's appropriate responses and the number of conversational turns. En ligne : http://dx.doi.org/10.1007/s10803-021-05017-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Conversation Skills in Chinese-Speaking Preschoolers with Autism: The Contributing Role of Parents' Verbal Responsiveness [Texte imprimé et/ou numérique] / W. C. SO, Auteur ; X. K. SONG, Auteur ; C. H. CHENG, Auteur ; W. W. LAW, Auteur ; T. WONG, Auteur ; O. K. LEUNG, Auteur ; Y. HUANG, Auteur . - p.1106-1119. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1106-1119 Mots-clés : Autism Spectrum Disorder  Autistic Disorder  China  Humans  Language  Parents  Chinese-speaking  Conversation abilities  Intervention  Naturalistic language sampling  Parental inputs Index. décimale : PER Périodiques Résumé : Children with autism spectrum disorder (ASD) have conversation deficits, yet the growth of conversation abilities is understudied, especially in Chinese-speaking populations. Little is known about whether their parents' verbal responsiveness and redirectives are related to their conversation skills. Children with ASD (N = 37; M = 5;5) and their parents contributed their language samples. These children interacted with their parents at four time points over nine months. The number of conversational turns and the proportion of child-initiated conversation (but not the proportion of children's appropriate responses) grew over nine months. After controlling for time, autism severity, and language skills, parents' verbal responsiveness positively predicted children's appropriate responses. Parents' redirectives negatively predicted the proportion of children's appropriate responses and the number of conversational turns. En ligne : http://dx.doi.org/10.1007/s10803-021-05017-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

Factors associated with age at autism diagnosis in a community sample of Australian adults / Y. HUANG in Autism Research, 14-12 (December 2021)  

Public ISBD [article]  inAutism Research > 14-12 (December 2021) . - p.2677-2687 Titre : Factors associated with age at autism diagnosis in a community sample of Australian adults Type de document : Texte imprimé et/ou numérique Auteurs : Y. HUANG, Auteur ; Samuel R. C. ARNOLD, Auteur ; K. R. FOLEY, Auteur ; L. P. LAWSON, Auteur ; A. L. RICHDALE, Auteur ; J. N. TROLLOR, Auteur Article en page(s) : p.2677-2687 Langues : Anglais (eng) Mots-clés : Adult  Aged  Australia/epidemiology  Autism Spectrum Disorder  Autistic Disorder/diagnosis/epidemiology  Child  Cross-Sectional Studies  Female  Humans  Longitudinal Studies  adults  aging/ASD in adults  diagnosis  gender/female ASD Index. décimale : PER Périodiques Résumé : Autism diagnosis in adulthood has become increasingly common due to a range of factors including changes in awareness, diagnostic criteria, and professional practices. Past research identified a range of demographic and autism-related factors associated with autism diagnosis age in children. However, it is unclear whether these apply to autistic adults. This study aimed to examine predictors of autism diagnosis age in adults while controlling for current age and autistic traits. We used a cross-sectional sample of 657 adults aged 15-80 from three self and carer-report studies: the Australian Longitudinal Study of Autism in Adulthood (ALSAA), Study of Australian School-Leavers with Autism (SASLA) and Pathways, Predictors and Impact of Receiving an Autism Spectrum Diagnosis in Adulthood (Pathways). Using hierarchical multiplicative heteroscedastic regression, we found that older current age and higher self-reported autistic traits predicted older diagnosis age, and that female gender, lack of intellectual disability, language other than English, family history of autism, lifetime depression, and no obsessive-compulsive disorder predicted older diagnosis age beyond current age and autistic traits. The paradoxical relationship between high autistic traits and older diagnosis age requires further investigation. Based on these findings, we recommended strategies to improve autism recognition in women and people from non-English-speaking backgrounds. Future studies could extend the findings by examining the effects of childhood and adulthood socioeconomic status on adult diagnosis age. LAY SUMMARY: We studied the relationship between age at autism diagnosis and other characteristics in adults. We found that both older current age and higher autistic traits, female gender, language other than English, family history of autism, and history of depression were related to older age at diagnosis, while intellectual disability and history of obsessive-compulsive disorder were related to younger age at diagnosis. Our findings suggest more work is needed to help recognize autism in women and people from non-English-speaking backgrounds. En ligne : http://dx.doi.org/10.1002/aur.2610 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] Factors associated with age at autism diagnosis in a community sample of Australian adults [Texte imprimé et/ou numérique] / Y. HUANG, Auteur ; Samuel R. C. ARNOLD, Auteur ; K. R. FOLEY, Auteur ; L. P. LAWSON, Auteur ; A. L. RICHDALE, Auteur ; J. N. TROLLOR, Auteur . - p.2677-2687. Langues : Anglais (eng) in Autism Research > 14-12 (December 2021) . - p.2677-2687 Mots-clés : Adult  Aged  Australia/epidemiology  Autism Spectrum Disorder  Autistic Disorder/diagnosis/epidemiology  Child  Cross-Sectional Studies  Female  Humans  Longitudinal Studies  adults  aging/ASD in adults  diagnosis  gender/female ASD Index. décimale : PER Périodiques Résumé : Autism diagnosis in adulthood has become increasingly common due to a range of factors including changes in awareness, diagnostic criteria, and professional practices. Past research identified a range of demographic and autism-related factors associated with autism diagnosis age in children. However, it is unclear whether these apply to autistic adults. This study aimed to examine predictors of autism diagnosis age in adults while controlling for current age and autistic traits. We used a cross-sectional sample of 657 adults aged 15-80 from three self and carer-report studies: the Australian Longitudinal Study of Autism in Adulthood (ALSAA), Study of Australian School-Leavers with Autism (SASLA) and Pathways, Predictors and Impact of Receiving an Autism Spectrum Diagnosis in Adulthood (Pathways). Using hierarchical multiplicative heteroscedastic regression, we found that older current age and higher self-reported autistic traits predicted older diagnosis age, and that female gender, lack of intellectual disability, language other than English, family history of autism, lifetime depression, and no obsessive-compulsive disorder predicted older diagnosis age beyond current age and autistic traits. The paradoxical relationship between high autistic traits and older diagnosis age requires further investigation. Based on these findings, we recommended strategies to improve autism recognition in women and people from non-English-speaking backgrounds. Future studies could extend the findings by examining the effects of childhood and adulthood socioeconomic status on adult diagnosis age. LAY SUMMARY: We studied the relationship between age at autism diagnosis and other characteristics in adults. We found that both older current age and higher autistic traits, female gender, language other than English, family history of autism, and history of depression were related to older age at diagnosis, while intellectual disability and history of obsessive-compulsive disorder were related to younger age at diagnosis. Our findings suggest more work is needed to help recognize autism in women and people from non-English-speaking backgrounds. En ligne : http://dx.doi.org/10.1002/aur.2610 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts / B. G. MCKENNA in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 43 p. Titre : Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts Type de document : Texte imprimé et/ou numérique Auteurs : B. G. MCKENNA, Auteur ; Y. HUANG, Auteur ; K. VERVIER, Auteur ; D. HOFAMMANN, Auteur ; M. CAFFERATA, Auteur ; S. AL-MOMANI, Auteur ; F. LOWENTHAL, Auteur ; A. ZHANG, Auteur ; J. Y. KOH, Auteur ; S. THENUWARA, Auteur ; L. BRUEGGEMAN, Auteur ; E. BAHL, Auteur ; T. KOOMAR, Auteur ; N. POTTSCHMIDT, Auteur ; T. KALMUS, Auteur ; L. CASTEN, Auteur ; T. R. THOMAS, Auteur ; J. J. MICHAELSON, Auteur Article en page(s) : 43 p. Langues : Anglais (eng) Mots-clés : Androgen exposure  Autism spectrum disorder  Masculinity  Neurodevelopment  Social functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) display a strong male bias. Androgen exposure is profoundly increased in typical male development, but it also varies within the sexes, and previous work has sought to connect morphological proxies of androgen exposure, including digit ratio and facial morphology, to neurodevelopmental outcomes. The results of these studies have been mixed, and the relationships between androgen exposure and behavior remain unclear. METHODS: Here, we measured both digit ratio masculinity (DRM) and facial landmark masculinity (FLM) in the same neurodevelopmental cohort (N = 763) and compared these proxies of androgen exposure to clinical and parent-reported features as well as polygenic risk scores. RESULTS: We found that FLM was significantly associated with NDD diagnosis (ASD, ADHD, ID; all [Formula: see text]), while DRM was not. When testing for association with parent-reported problems, we found that both FLM and DRM were positively associated with concerns about social behavior ([Formula: see text], [Formula: see text]; [Formula: see text], [Formula: see text], respectively). Furthermore, we found evidence via polygenic risk scores (PRS) that DRM indexes masculinity via testosterone levels ([Formula: see text], [Formula: see text]), while FLM indexes masculinity through a negative relationship with sex hormone binding globulin (SHBG) levels ([Formula: see text], [Formula: see text]). Finally, using the SPARK cohort (N = 9419) we replicated the observed relationship between polygenic estimates of testosterone, SHBG, and social functioning ([Formula: see text], [Formula: see text], and [Formula: see text], [Formula: see text] for testosterone and SHBG, respectively). Remarkably, when considered over the extremes of each variable, these quantitative sex effects on social functioning were comparable to the effect of binary sex itself (binary male: [Formula: see text]; testosterone: [Formula: see text] from 0.1%-ile to 99.9%-ile; SHBG: [Formula: see text] from 0.1%-ile to 99.9%-ile). LIMITATIONS: In the devGenes and SPARK cohorts, our analyses rely on indirect, rather than direct measurement of androgens and related molecules. CONCLUSIONS: These findings and their replication in the large SPARK cohort lend support to the hypothesis that increasing net androgen exposure diminishes capacity for social functioning in both males and females. En ligne : http://dx.doi.org/10.1186/s13229-021-00450-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts [Texte imprimé et/ou numérique] / B. G. MCKENNA, Auteur ; Y. HUANG, Auteur ; K. VERVIER, Auteur ; D. HOFAMMANN, Auteur ; M. CAFFERATA, Auteur ; S. AL-MOMANI, Auteur ; F. LOWENTHAL, Auteur ; A. ZHANG, Auteur ; J. Y. KOH, Auteur ; S. THENUWARA, Auteur ; L. BRUEGGEMAN, Auteur ; E. BAHL, Auteur ; T. KOOMAR, Auteur ; N. POTTSCHMIDT, Auteur ; T. KALMUS, Auteur ; L. CASTEN, Auteur ; T. R. THOMAS, Auteur ; J. J. MICHAELSON, Auteur . - 43 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 43 p. Mots-clés : Androgen exposure  Autism spectrum disorder  Masculinity  Neurodevelopment  Social functioning Index. décimale : PER Périodiques Résumé : BACKGROUND: Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) display a strong male bias. Androgen exposure is profoundly increased in typical male development, but it also varies within the sexes, and previous work has sought to connect morphological proxies of androgen exposure, including digit ratio and facial morphology, to neurodevelopmental outcomes. The results of these studies have been mixed, and the relationships between androgen exposure and behavior remain unclear. METHODS: Here, we measured both digit ratio masculinity (DRM) and facial landmark masculinity (FLM) in the same neurodevelopmental cohort (N = 763) and compared these proxies of androgen exposure to clinical and parent-reported features as well as polygenic risk scores. RESULTS: We found that FLM was significantly associated with NDD diagnosis (ASD, ADHD, ID; all [Formula: see text]), while DRM was not. When testing for association with parent-reported problems, we found that both FLM and DRM were positively associated with concerns about social behavior ([Formula: see text], [Formula: see text]; [Formula: see text], [Formula: see text], respectively). Furthermore, we found evidence via polygenic risk scores (PRS) that DRM indexes masculinity via testosterone levels ([Formula: see text], [Formula: see text]), while FLM indexes masculinity through a negative relationship with sex hormone binding globulin (SHBG) levels ([Formula: see text], [Formula: see text]). Finally, using the SPARK cohort (N = 9419) we replicated the observed relationship between polygenic estimates of testosterone, SHBG, and social functioning ([Formula: see text], [Formula: see text], and [Formula: see text], [Formula: see text] for testosterone and SHBG, respectively). Remarkably, when considered over the extremes of each variable, these quantitative sex effects on social functioning were comparable to the effect of binary sex itself (binary male: [Formula: see text]; testosterone: [Formula: see text] from 0.1%-ile to 99.9%-ile; SHBG: [Formula: see text] from 0.1%-ile to 99.9%-ile). LIMITATIONS: In the devGenes and SPARK cohorts, our analyses rely on indirect, rather than direct measurement of androgens and related molecules. CONCLUSIONS: These findings and their replication in the large SPARK cohort lend support to the hypothesis that increasing net androgen exposure diminishes capacity for social functioning in both males and females. En ligne : http://dx.doi.org/10.1186/s13229-021-00450-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

A molecular genetic study of autism and related phenotypes in extended pedigrees / J. PIVEN in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.30 Titre : A molecular genetic study of autism and related phenotypes in extended pedigrees Type de document : Texte imprimé et/ou numérique Auteurs : J. PIVEN, Auteur ; V. J. VIELAND, Auteur ; M. PARLIER, Auteur ; A. THOMPSON, Auteur ; I. O'CONNER, Auteur ; M. WOODBURY-SMITH, Auteur ; Y. HUANG, Auteur ; K. A. WALTERS, Auteur ; B. FERNANDEZ, Auteur ; P. SZATMARI, Auteur Article en page(s) : p.30 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Efforts to uncover the risk genotypes associated with the familial nature of autism spectrum disorder (ASD) have had limited success. The study of extended pedigrees, incorporating additional ASD-related phenotypes into linkage analysis, offers an alternative approach to the search for inherited ASD susceptibility variants that complements traditional methods used to study the genetics of ASD. METHODS: We examined evidence for linkage in 19 extended pedigrees ascertained through ASD cases spread across at least two (and in most cases three) nuclear families. Both compound phenotypes (i.e., ASD and, in non-ASD individuals, the broad autism phenotype) and more narrowly defined components of these phenotypes, e.g., social and repetitive behavior, pragmatic language, and anxiety, were examined. The overarching goal was to maximize the aggregate information available on the maximum number of individuals and to disaggregate syndromic phenotypes in order to examine the genetic underpinnings of more narrowly defined aspects of ASD behavior. RESULTS: Results reveal substantial between-family locus heterogeneity and support the importance of previously reported ASD loci in inherited, familial, forms of ASD. Additional loci, not seen in the ASD analyses, show evidence for linkage to the broad autism phenotype (BAP). BAP peaks are well supported by multiple subphenotypes (including anxiety, pragmatic language, and social behavior) showing linkage to regions overlapping with the compound BAP phenotype. Whereas 'repetitive behavior', showing the strongest evidence for linkage (Posterior Probability of Linkage = 62% at 6p25.2-24.3, and 69% at 19p13.3), appears to be linked to novel regions not detected with other compound or narrow phenotypes examined in this study. CONCLUSIONS: These results provide support for the presence of key features underlying the complexity of the genetic architecture of ASD: substantial between-family locus heterogeneity, that the BAP appears to correspond to sets of subclinical features segregating with ASD within pedigrees, and that different features of the ASD phenotype segregate independently of one another. These findings support the additional study of larger, even more individually informative pedigrees, together with measurement of multiple, behavioral- and biomarker-based phenotypes, in both affected and non-affected individuals, to elucidate the complex genetics of familial ASD. En ligne : http://dx.doi.org/10.1186/1866-1955-5-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345 [article] A molecular genetic study of autism and related phenotypes in extended pedigrees [Texte imprimé et/ou numérique] / J. PIVEN, Auteur ; V. J. VIELAND, Auteur ; M. PARLIER, Auteur ; A. THOMPSON, Auteur ; I. O'CONNER, Auteur ; M. WOODBURY-SMITH, Auteur ; Y. HUANG, Auteur ; K. A. WALTERS, Auteur ; B. FERNANDEZ, Auteur ; P. SZATMARI, Auteur . - p.30. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.30 Index. décimale : PER Périodiques Résumé : BACKGROUND: Efforts to uncover the risk genotypes associated with the familial nature of autism spectrum disorder (ASD) have had limited success. The study of extended pedigrees, incorporating additional ASD-related phenotypes into linkage analysis, offers an alternative approach to the search for inherited ASD susceptibility variants that complements traditional methods used to study the genetics of ASD. METHODS: We examined evidence for linkage in 19 extended pedigrees ascertained through ASD cases spread across at least two (and in most cases three) nuclear families. Both compound phenotypes (i.e., ASD and, in non-ASD individuals, the broad autism phenotype) and more narrowly defined components of these phenotypes, e.g., social and repetitive behavior, pragmatic language, and anxiety, were examined. The overarching goal was to maximize the aggregate information available on the maximum number of individuals and to disaggregate syndromic phenotypes in order to examine the genetic underpinnings of more narrowly defined aspects of ASD behavior. RESULTS: Results reveal substantial between-family locus heterogeneity and support the importance of previously reported ASD loci in inherited, familial, forms of ASD. Additional loci, not seen in the ASD analyses, show evidence for linkage to the broad autism phenotype (BAP). BAP peaks are well supported by multiple subphenotypes (including anxiety, pragmatic language, and social behavior) showing linkage to regions overlapping with the compound BAP phenotype. Whereas 'repetitive behavior', showing the strongest evidence for linkage (Posterior Probability of Linkage = 62% at 6p25.2-24.3, and 69% at 19p13.3), appears to be linked to novel regions not detected with other compound or narrow phenotypes examined in this study. CONCLUSIONS: These results provide support for the presence of key features underlying the complexity of the genetic architecture of ASD: substantial between-family locus heterogeneity, that the BAP appears to correspond to sets of subclinical features segregating with ASD within pedigrees, and that different features of the ASD phenotype segregate independently of one another. These findings support the additional study of larger, even more individually informative pedigrees, together with measurement of multiple, behavioral- and biomarker-based phenotypes, in both affected and non-affected individuals, to elucidate the complex genetics of familial ASD. En ligne : http://dx.doi.org/10.1186/1866-1955-5-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism / V. J. VIELAND in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.113-23 Titre : Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism Type de document : Texte imprimé et/ou numérique Auteurs : V. J. VIELAND, Auteur ; J. HALLMAYER, Auteur ; Y. HUANG, Auteur ; Alistair T. PAGNAMENTA, Auteur ; D. PINTO, Auteur ; H. KHAN, Auteur ; A. P. MONACO, Auteur ; Andrew D. PATERSON, Auteur ; Stephen SCHERER, Auteur ; J. S. SUTCLIFFE, Auteur ; P. SZATMARI, Auteur Article en page(s) : p.113-23 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The Autism Genome Project has assembled two large datasets originally designed for linkage analysis and genome-wide association analysis, respectively: 1,069 multiplex families genotyped on the Affymetrix 10 K platform, and 1,129 autism trios genotyped on the Illumina 1 M platform. We set out to exploit this unique pair of resources by analyzing the combined data with a novel statistical method, based on the PPL statistical framework, simultaneously searching for linkage and association to loci involved in autism spectrum disorders (ASD). Our analysis also allowed for potential differences in genetic architecture for ASD in the presence or absence of lower IQ, an important clinical indicator of ASD subtypes. We found strong evidence of multiple linked loci; however, association evidence implicating specific genes was low even under the linkage peaks. Distinct loci were found in the lower IQ families, and these families showed stronger and more numerous linkage peaks, while the normal IQ group yielded the strongest association evidence. It appears that presence/absence of lower IQ (LIQ) demarcates more genetically homogeneous subgroups of ASD patients, with not just different sets of loci acting in the two groups, but possibly distinct genetic architecture between them, such that the LIQ group involves more major gene effects (amenable to linkage mapping), while the normal IQ group potentially involves more common alleles with lower penetrances. The possibility of distinct genetic architecture across subtypes of ASD has implications for further research and perhaps for research approaches to other complex disorders as well. En ligne : http://dx.doi.org/10.1007/s11689-011-9072-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism [Texte imprimé et/ou numérique] / V. J. VIELAND, Auteur ; J. HALLMAYER, Auteur ; Y. HUANG, Auteur ; Alistair T. PAGNAMENTA, Auteur ; D. PINTO, Auteur ; H. KHAN, Auteur ; A. P. MONACO, Auteur ; Andrew D. PATERSON, Auteur ; Stephen SCHERER, Auteur ; J. S. SUTCLIFFE, Auteur ; P. SZATMARI, Auteur . - p.113-23. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.113-23 Index. décimale : PER Périodiques Résumé : The Autism Genome Project has assembled two large datasets originally designed for linkage analysis and genome-wide association analysis, respectively: 1,069 multiplex families genotyped on the Affymetrix 10 K platform, and 1,129 autism trios genotyped on the Illumina 1 M platform. We set out to exploit this unique pair of resources by analyzing the combined data with a novel statistical method, based on the PPL statistical framework, simultaneously searching for linkage and association to loci involved in autism spectrum disorders (ASD). Our analysis also allowed for potential differences in genetic architecture for ASD in the presence or absence of lower IQ, an important clinical indicator of ASD subtypes. We found strong evidence of multiple linked loci; however, association evidence implicating specific genes was low even under the linkage peaks. Distinct loci were found in the lower IQ families, and these families showed stronger and more numerous linkage peaks, while the normal IQ group yielded the strongest association evidence. It appears that presence/absence of lower IQ (LIQ) demarcates more genetically homogeneous subgroups of ASD patients, with not just different sets of loci acting in the two groups, but possibly distinct genetic architecture between them, such that the LIQ group involves more major gene effects (amenable to linkage mapping), while the normal IQ group potentially involves more common alleles with lower penetrances. The possibility of distinct genetic architecture across subtypes of ASD has implications for further research and perhaps for research approaches to other complex disorders as well. En ligne : http://dx.doi.org/10.1007/s11689-011-9072-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis / W. YAN in Autism, 25-7 (October 2021)  

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Robot-based intervention may reduce delay in the production of intransitive gestures in Chinese-speaking preschoolers with autism spectrum disorder / W. C. SO in Molecular Autism, 9 (2018)  

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