AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism / Bernard CRESPI in Autism Research and Treatment, 2019 (2019)  

Public ISBD [article]  inAutism Research and Treatment > 2019 (2019) . - 6 p. Titre : AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism Type de document : Texte imprimé et/ou numérique Auteurs : Bernard CRESPI, Auteur ; Silven READ, Auteur ; Amy LY, Auteur ; Peter HURD, Auteur Année de publication : 2019 Article en page(s) : 6 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences inthe expression of autism-associated traits found in typical populations. 'e theory is supported by extensive phenotypicevidence, but no genes have yet been described with properties that fit its predictions. 'e autophagy-associated geneAMBRA1 represents one of the top genome-wide “hits” in recent GWAS studies of schizophrenia, shows sex-differentialexpression, and has been linked with autism risk and traits in humans and mice, especially or exclusively among females. Wegenotyped the AMBRA1 autism-risk SNP in a population of typical humans who were scored for the dimensional expressionof autistic and schizotypal traits. Females, but not males, homozygous for the GG genotype showed a significant increase inscore for the single trait, the Autism Quotient-Imagination subscale, that exhibits a strong, significant male bias in typicalpopulations. As such, females with this genotype resembled males for this highly sexually dimorphic, autism-associatedphenotype. 'ese findings support the extreme male brain hypothesis and indicate that sex-specific genetic effects canmediate aspects of risk for autism. En ligne : https://doi.org/10.1155/2019/1968580 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism [Texte imprimé et/ou numérique] / Bernard CRESPI, Auteur ; Silven READ, Auteur ; Amy LY, Auteur ; Peter HURD, Auteur . - 2019 . - 6 p. Langues : Anglais (eng) in Autism Research and Treatment > 2019 (2019) . - 6 p. Index. décimale : PER Périodiques Résumé : The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences inthe expression of autism-associated traits found in typical populations. 'e theory is supported by extensive phenotypicevidence, but no genes have yet been described with properties that fit its predictions. 'e autophagy-associated geneAMBRA1 represents one of the top genome-wide “hits” in recent GWAS studies of schizophrenia, shows sex-differentialexpression, and has been linked with autism risk and traits in humans and mice, especially or exclusively among females. Wegenotyped the AMBRA1 autism-risk SNP in a population of typical humans who were scored for the dimensional expressionof autistic and schizotypal traits. Females, but not males, homozygous for the GG genotype showed a significant increase inscore for the single trait, the Autism Quotient-Imagination subscale, that exhibits a strong, significant male bias in typicalpopulations. As such, females with this genotype resembled males for this highly sexually dimorphic, autism-associatedphenotype. 'ese findings support the extreme male brain hypothesis and indicate that sex-specific genetic effects canmediate aspects of risk for autism. En ligne : https://doi.org/10.1155/2019/1968580 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

Association testing of copy number variants in schizophrenia and autism spectrum disorders / Bernard CRESPI in Journal of Neurodevelopmental Disorders, 4-1 (December 2012)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 4-1 (December 2012) . - p.15 Titre : Association testing of copy number variants in schizophrenia and autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Bernard CRESPI, Auteur ; H. J. CROFTS, Auteur Article en page(s) : p.15 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders and schizophrenia have been associated with an overlapping set of copy number variant loci, but the nature and degree of overlap in copy number variants (deletions compared to duplications) between these two disorders remains unclear. METHODS: We systematically evaluated three lines of evidence: (1) the statistical bases for associations of autism spectrum disorders and schizophrenia with a set of the primary CNVs thus far investigated, from previous studies; (2) data from case series studies on the occurrence of these CNVs in autism spectrum disorders, especially among children, and (3) data on the extent to which the CNVs were associated with intellectual disability and developmental, speech, or language delays. We also conducted new analyses of existing data on these CNVs in autism by pooling data from seven case control studies. RESULTS: Four of the CNVs considered, dup 1q21.1, dup 15q11-q13, del 16p11.2, and dup 22q11.21, showed clear statistical evidence as autism risk factors, whereas eight CNVs, del 1q21.1, del 3q29, del 15q11.2, del 15q13.3, dup 16p11.2, dup 16p13.1, del 17p12, and del 22q11.21, were strongly statistically supported as risk factors for schizophrenia. Three of the CNVs, dup 1q21.1, dup 16p11.2, and dup 16p13.1, exhibited statistical support as risk factors for both autism and schizophrenia, although for each of these CNVs statistical significance was nominal for tests involving one of the two disorders. For the CNVs that were statistically associated with schizophrenia but were not statistically associated with autism, a notable number of children with the CNVs have been diagnosed with autism or ASD; children with these CNVs also demonstrate a high incidence of intellectual disability and developmental, speech, or language delays. CONCLUSIONS: These findings suggest that although CNV loci notably overlap between autism and schizophrenia, the degree of strongly statistically supported overlap in specific CNVs at these loci remains limited. These analyses also suggest that relatively severe premorbidity to CNV-associated schizophrenia in children may sometimes be diagnosed as autism spectrum disorder. En ligne : http://dx.doi.org/10.1186/1866-1955-4-15 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344 [article] Association testing of copy number variants in schizophrenia and autism spectrum disorders [Texte imprimé et/ou numérique] / Bernard CRESPI, Auteur ; H. J. CROFTS, Auteur . - p.15. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 4-1 (December 2012) . - p.15 Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders and schizophrenia have been associated with an overlapping set of copy number variant loci, but the nature and degree of overlap in copy number variants (deletions compared to duplications) between these two disorders remains unclear. METHODS: We systematically evaluated three lines of evidence: (1) the statistical bases for associations of autism spectrum disorders and schizophrenia with a set of the primary CNVs thus far investigated, from previous studies; (2) data from case series studies on the occurrence of these CNVs in autism spectrum disorders, especially among children, and (3) data on the extent to which the CNVs were associated with intellectual disability and developmental, speech, or language delays. We also conducted new analyses of existing data on these CNVs in autism by pooling data from seven case control studies. RESULTS: Four of the CNVs considered, dup 1q21.1, dup 15q11-q13, del 16p11.2, and dup 22q11.21, showed clear statistical evidence as autism risk factors, whereas eight CNVs, del 1q21.1, del 3q29, del 15q11.2, del 15q13.3, dup 16p11.2, dup 16p13.1, del 17p12, and del 22q11.21, were strongly statistically supported as risk factors for schizophrenia. Three of the CNVs, dup 1q21.1, dup 16p11.2, and dup 16p13.1, exhibited statistical support as risk factors for both autism and schizophrenia, although for each of these CNVs statistical significance was nominal for tests involving one of the two disorders. For the CNVs that were statistically associated with schizophrenia but were not statistically associated with autism, a notable number of children with the CNVs have been diagnosed with autism or ASD; children with these CNVs also demonstrate a high incidence of intellectual disability and developmental, speech, or language delays. CONCLUSIONS: These findings suggest that although CNV loci notably overlap between autism and schizophrenia, the degree of strongly statistically supported overlap in specific CNVs at these loci remains limited. These analyses also suggest that relatively severe premorbidity to CNV-associated schizophrenia in children may sometimes be diagnosed as autism spectrum disorder. En ligne : http://dx.doi.org/10.1186/1866-1955-4-15 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344

Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes / Tanya L. PROCYSHYN in Autism Research, 10-5 (May 2017)  

Public ISBD [article]  inAutism Research > 10-5 (May 2017) . - p.750-756 Titre : Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes Type de document : Texte imprimé et/ou numérique Auteurs : Tanya L. PROCYSHYN, Auteur ; Peter L. HURD, Auteur ; Bernard CRESPI, Auteur Article en page(s) : p.750-756 Langues : Anglais (eng) Mots-clés : attention  autism quotient  autism spectrum  avpr1a  microsatellite analysis  rs1  rs3  vasopressin Index. décimale : PER Périodiques Résumé : Variation in the AVPR1a gene, which codes for a receptor for the neurohormone vasopressin, has been found to relate to autism risk. Interestingly, variation in this gene also relates to differences in social behaviour in non-clinical populations. Variation in this gene may affect expression of AVPR1a receptors in brain areas involved in social behaviour. Here, we tested whether AVPR1a variation was associated with Autism Quotient (AQ) scores, a questionnaire that measures non-clinical manifestations of autism, in a population of 873 healthy university students. The AVPR1a RS1 and RS3 microsatellites were examined, and variants were categorized as “long” or “short”. The RS3 long/long genotype was significantly associated with a higher AQ score (i.e., a more autistic-like phenotype) for the combined population and for females only. Further examination showed that this relationship was due to a specific RS3 variant, termed the “target allele”, which previous research has linked to reduced altruism and increased marital problems in healthy individuals. We also observed that the relationship between RS3 genotype and AQ score was mainly due to the “attention switching” (the ability to shift attention from one task to another) component of the questionnaire; this ability is commonly impaired in autism spectrum disorders. Overall, our study establishes continuity between the existing AVPR1a research in clinical and non-clinical populations. Our results suggest that vasopressin may exert its effects on social behaviour in part by modulating attentional focus between social and non-social cues. En ligne : http://dx.doi.org/10.1002/aur.1716 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=307 [article] Association testing of vasopressin receptor 1a microsatellite polymorphisms in non-clinical autism spectrum phenotypes [Texte imprimé et/ou numérique] / Tanya L. PROCYSHYN, Auteur ; Peter L. HURD, Auteur ; Bernard CRESPI, Auteur . - p.750-756. Langues : Anglais (eng) in Autism Research > 10-5 (May 2017) . - p.750-756 Mots-clés : attention  autism quotient  autism spectrum  avpr1a  microsatellite analysis  rs1  rs3  vasopressin Index. décimale : PER Périodiques Résumé : Variation in the AVPR1a gene, which codes for a receptor for the neurohormone vasopressin, has been found to relate to autism risk. Interestingly, variation in this gene also relates to differences in social behaviour in non-clinical populations. Variation in this gene may affect expression of AVPR1a receptors in brain areas involved in social behaviour. Here, we tested whether AVPR1a variation was associated with Autism Quotient (AQ) scores, a questionnaire that measures non-clinical manifestations of autism, in a population of 873 healthy university students. The AVPR1a RS1 and RS3 microsatellites were examined, and variants were categorized as “long” or “short”. The RS3 long/long genotype was significantly associated with a higher AQ score (i.e., a more autistic-like phenotype) for the combined population and for females only. Further examination showed that this relationship was due to a specific RS3 variant, termed the “target allele”, which previous research has linked to reduced altruism and increased marital problems in healthy individuals. We also observed that the relationship between RS3 genotype and AQ score was mainly due to the “attention switching” (the ability to shift attention from one task to another) component of the questionnaire; this ability is commonly impaired in autism spectrum disorders. Overall, our study establishes continuity between the existing AVPR1a research in clinical and non-clinical populations. Our results suggest that vasopressin may exert its effects on social behaviour in part by modulating attentional focus between social and non-social cues. En ligne : http://dx.doi.org/10.1002/aur.1716 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=307

Autism and cancer risk / Bernard CRESPI in Autism Research, 4-4 (August 2011)  

Public ISBD [article]  inAutism Research > 4-4 (August 2011) . - p.302-310 Titre : Autism and cancer risk Type de document : Texte imprimé et/ou numérique Auteurs : Bernard CRESPI, Auteur Année de publication : 2011 Article en page(s) : p.302-310 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : A literature review was conducted on the genetic and developmental bases of autism in relation to genes and pathways associated with cancer risk. Convergent lines of evidence from four types of analysis: (1) recent theoretical studies on the causes of autism, (2) epidemiological studies, (3) genetic analyses linking autism with mutations in tumor suppressor genes and other cancer-associated genes and pathways, and (4) contrasts with schizophrenia, Parkinson's, and Alzheimer's disease indicate that autism may involve altered cancer risk. This evidence should motivate further epidemiological studies, and it provides useful insights into the nature of the genetic, epigenetic, and environmental factors underlying the etiologies of autism, other neurological conditions, and carcinogenesis. En ligne : http://dx.doi.org/10.1002/aur.208 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141 [article] Autism and cancer risk [Texte imprimé et/ou numérique] / Bernard CRESPI, Auteur . - 2011 . - p.302-310. Langues : Anglais (eng) in Autism Research > 4-4 (August 2011) . - p.302-310 Index. décimale : PER Périodiques Résumé : A literature review was conducted on the genetic and developmental bases of autism in relation to genes and pathways associated with cancer risk. Convergent lines of evidence from four types of analysis: (1) recent theoretical studies on the causes of autism, (2) epidemiological studies, (3) genetic analyses linking autism with mutations in tumor suppressor genes and other cancer-associated genes and pathways, and (4) contrasts with schizophrenia, Parkinson's, and Alzheimer's disease indicate that autism may involve altered cancer risk. This evidence should motivate further epidemiological studies, and it provides useful insights into the nature of the genetic, epigenetic, and environmental factors underlying the etiologies of autism, other neurological conditions, and carcinogenesis. En ligne : http://dx.doi.org/10.1002/aur.208 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141

SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population / Christina MANNING in Autism Research and Treatment, 2021 (2021)  

Public ISBD [article]  inAutism Research and Treatment > 2021 (2021) . - 6634584 Titre : SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population Type de document : Texte imprimé et/ou numérique Auteurs : Christina MANNING, Auteur ; Peter L. HURD, Auteur ; Silven READ, Auteur ; Bernard CRESPI, Auteur Article en page(s) : 6634584 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associated with schizophrenia, and its deletion results in the autistic condition known as Phelan–McDermid syndrome. Despite the importance of SHANK3 as a paradigmatic gene mediating neurodevelopmental disorders, its psychological effects in nonclinical populations have yet to be studied. We genotyped the nonsynonymous, functional SHANK3 SNP rs9616915 in a large population of typical individuals scored for autism spectrum traits (the Autism Quotient, AQ) and schizotypy spectrum traits (the Schizotypal Personality Questionnaire, SPQ-BR). Males, but not females, showed significant genotypic effects for the SPQ-BR subscale associated with speech and language: Odd Speech. These findings, in conjunction with animal model studies showing vocalization and auditory effects of SHANK3 mutations, and studies indicating severe language alterations and speech-associated white matter tract abnormalities in Phelan–McDermid syndrome, suggest that SHANK3 differentially affects the development and expression of human language and speech. Imaging genetic and speech-language studies of typical individuals carrying different genotypes of rs9616915 should provide novel insights into the neurological and psychological bases of speech and language alterations among individuals with SHANK3 mutations and Phelan–McDermid syndrome. En ligne : https://doi.org/10.1155/2021/6634584 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=460 [article] SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population [Texte imprimé et/ou numérique] / Christina MANNING, Auteur ; Peter L. HURD, Auteur ; Silven READ, Auteur ; Bernard CRESPI, Auteur . - 6634584. Langues : Anglais (eng) in Autism Research and Treatment > 2021 (2021) . - 6634584 Index. décimale : PER Périodiques Résumé : Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associated with schizophrenia, and its deletion results in the autistic condition known as Phelan–McDermid syndrome. Despite the importance of SHANK3 as a paradigmatic gene mediating neurodevelopmental disorders, its psychological effects in nonclinical populations have yet to be studied. We genotyped the nonsynonymous, functional SHANK3 SNP rs9616915 in a large population of typical individuals scored for autism spectrum traits (the Autism Quotient, AQ) and schizotypy spectrum traits (the Schizotypal Personality Questionnaire, SPQ-BR). Males, but not females, showed significant genotypic effects for the SPQ-BR subscale associated with speech and language: Odd Speech. These findings, in conjunction with animal model studies showing vocalization and auditory effects of SHANK3 mutations, and studies indicating severe language alterations and speech-associated white matter tract abnormalities in Phelan–McDermid syndrome, suggest that SHANK3 differentially affects the development and expression of human language and speech. Imaging genetic and speech-language studies of typical individuals carrying different genotypes of rs9616915 should provide novel insights into the neurological and psychological bases of speech and language alterations among individuals with SHANK3 mutations and Phelan–McDermid syndrome. En ligne : https://doi.org/10.1155/2021/6634584 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=460

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