Dépouillements

Low CD38 expression in lymphoblastoid cells and haplotypes are both associated with autism in a family-based study / Elad LERER in Autism Research, 3-6 (December 2010)  

Public ISBD [article]  inAutism Research > 3-6 (December 2010) . - p.293-302 Titre : Low CD38 expression in lymphoblastoid cells and haplotypes are both associated with autism in a family-based study Type de document : Texte imprimé et/ou numérique Auteurs : Elad LERER, Auteur ; Shlomit LEVI, Auteur ; Salomon ISRAEL, Auteur ; Maya YAARI, Auteur ; Lubov NEMANOV, Auteur ; David MANKUTA, Auteur ; Nurit YIRMIYA, Auteur ; Richard P. EBSTEIN, Auteur Année de publication : 2010 Article en page(s) : p.293-302 Langues : Anglais (eng) Mots-clés : autism spectrum disorder (ASD)  CD38;polymorphism  gene expression  real time PCR  haplotype Index. décimale : PER Périodiques Résumé : Background: Impairments in social processes characterize one of the core deficits in autism spectrum disorders (ASD) and accumulating evidence suggests that oxytocin neurotransmission is implicated in mediating social adaptation in ASD. Using a mouse model, CD38, a transmembrane protein expressed in immune cells but also in brain, was found to be critical for social behavior via regulation of oxytocin secretion. This prompted us to both examine CD38 expression in human lymphoblastoid cell lines (LBC) as well as to test association between SNPs across the CD38 gene and ASD. Methods: LBC's were derived from 44 ASD lines and 40 “unaffected” parents. Family-based association (UNPHASED) was examined by genotyping 11 tagging SNPs spanning the CD38 gene identified using HapMap data in 170 trios. An additional SNP (rs3796863) associated in a study by Munesue et al. with ASD was also genotyped. Results: A highly significant reduction in CD38 expression was observed in immortalized lymphocytes derived from ASD subjects compared to their “unaffected” parents (F = 17.2, P = 0.00024, df = 1). Haplotype analysis showed significant association (permutation corrected) between three and seven locus haplotypes and DSM IV ASD in low functioning (IQ<70) subjects. Conclusions: The current report supports a role for CD38 in conferring risk for ASD. Notably, our study shows that this gene is not only associated with low functioning ASD but that CD38 expression is markedly reduced in LBC derived from ASD subjects compared to “unaffected” parents, strengthening the connection between oxytocin and ASD. En ligne : http://dx.doi.org/10.1002/aur.156 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115 [article] Low CD38 expression in lymphoblastoid cells and haplotypes are both associated with autism in a family-based study [Texte imprimé et/ou numérique] / Elad LERER, Auteur ; Shlomit LEVI, Auteur ; Salomon ISRAEL, Auteur ; Maya YAARI, Auteur ; Lubov NEMANOV, Auteur ; David MANKUTA, Auteur ; Nurit YIRMIYA, Auteur ; Richard P. EBSTEIN, Auteur . - 2010 . - p.293-302. Langues : Anglais (eng) in Autism Research > 3-6 (December 2010) . - p.293-302 Mots-clés : autism spectrum disorder (ASD)  CD38;polymorphism  gene expression  real time PCR  haplotype Index. décimale : PER Périodiques Résumé : Background: Impairments in social processes characterize one of the core deficits in autism spectrum disorders (ASD) and accumulating evidence suggests that oxytocin neurotransmission is implicated in mediating social adaptation in ASD. Using a mouse model, CD38, a transmembrane protein expressed in immune cells but also in brain, was found to be critical for social behavior via regulation of oxytocin secretion. This prompted us to both examine CD38 expression in human lymphoblastoid cell lines (LBC) as well as to test association between SNPs across the CD38 gene and ASD. Methods: LBC's were derived from 44 ASD lines and 40 “unaffected” parents. Family-based association (UNPHASED) was examined by genotyping 11 tagging SNPs spanning the CD38 gene identified using HapMap data in 170 trios. An additional SNP (rs3796863) associated in a study by Munesue et al. with ASD was also genotyped. Results: A highly significant reduction in CD38 expression was observed in immortalized lymphocytes derived from ASD subjects compared to their “unaffected” parents (F = 17.2, P = 0.00024, df = 1). Haplotype analysis showed significant association (permutation corrected) between three and seven locus haplotypes and DSM IV ASD in low functioning (IQ<70) subjects. Conclusions: The current report supports a role for CD38 in conferring risk for ASD. Notably, our study shows that this gene is not only associated with low functioning ASD but that CD38 expression is markedly reduced in LBC derived from ASD subjects compared to “unaffected” parents, strengthening the connection between oxytocin and ASD. En ligne : http://dx.doi.org/10.1002/aur.156 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115

Variants in several genomic regions associated with asperger disorder / Daria SALYAKINA in Autism Research, 3-6 (December 2010)  

Public ISBD [article]  inAutism Research > 3-6 (December 2010) . - p.303-310 Titre : Variants in several genomic regions associated with asperger disorder Type de document : Texte imprimé et/ou numérique Auteurs : Daria SALYAKINA, Auteur ; D.Q. MA, Auteur ; James M. JAWORSKI, Auteur ; Ioanna KONIDARI, Auteur ; Patrice L. WHITEHEAD, Auteur ; Robin K. HENSON, Auteur ; D. MARTINEZ, Auteur ; J.L. ROBINSON, Auteur ; S. SACHAROW, Auteur ; Harry H. WRIGHT, Auteur ; Ruth K. ABRAMSON, Auteur ; John R. GILBERT, Auteur ; Michael L. CUCCARO, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur Année de publication : 2010 Article en page(s) : p.303-310 Langues : Anglais (eng) Mots-clés : asperger  susceptibility  genetics Index. décimale : PER Périodiques Résumé : Asperger disorder (ASP) is one of the autism spectrum disorders (ASD) and is differentiated from autism largely on the absence of clinically significant cognitive and language delays. Analysis of a homogenous subset of families with ASP may help to address the corresponding effect of genetic heterogeneity on identifying ASD genetic risk factors. To examine the hypothesis that common variation is important in ASD, we performed a genome-wide association study (GWAS) in 124 ASP families in a discovery data set and 110 ASP families in a validation data set. We prioritized the top 100 association results from both cohorts by employing a ranking strategy. Novel regions on 5q21.1 (P = 9.7 × 10−7) and 15q22.1–q22.2 (P = 7.3 × 10−6) were our most significant findings in the combined data set. Three chromosomal regions showing association, 3p14.2 (P = 3.6 × 10−6), 3q25–26 (P = 6.0 × 10–5) and 3p23 (P = 3.3 × 10−4) overlapped linkage regions reported in Finnish ASP families, and eight association regions overlapped ASD linkage areas. Our findings suggest that ASP shares both ASD-related genetic risk factors, as well as has genetic risk factors unique to the ASP phenotype. En ligne : http://dx.doi.org/10.1002/aur.158 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115 [article] Variants in several genomic regions associated with asperger disorder [Texte imprimé et/ou numérique] / Daria SALYAKINA, Auteur ; D.Q. MA, Auteur ; James M. JAWORSKI, Auteur ; Ioanna KONIDARI, Auteur ; Patrice L. WHITEHEAD, Auteur ; Robin K. HENSON, Auteur ; D. MARTINEZ, Auteur ; J.L. ROBINSON, Auteur ; S. SACHAROW, Auteur ; Harry H. WRIGHT, Auteur ; Ruth K. ABRAMSON, Auteur ; John R. GILBERT, Auteur ; Michael L. CUCCARO, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur . - 2010 . - p.303-310. Langues : Anglais (eng) in Autism Research > 3-6 (December 2010) . - p.303-310 Mots-clés : asperger  susceptibility  genetics Index. décimale : PER Périodiques Résumé : Asperger disorder (ASP) is one of the autism spectrum disorders (ASD) and is differentiated from autism largely on the absence of clinically significant cognitive and language delays. Analysis of a homogenous subset of families with ASP may help to address the corresponding effect of genetic heterogeneity on identifying ASD genetic risk factors. To examine the hypothesis that common variation is important in ASD, we performed a genome-wide association study (GWAS) in 124 ASP families in a discovery data set and 110 ASP families in a validation data set. We prioritized the top 100 association results from both cohorts by employing a ranking strategy. Novel regions on 5q21.1 (P = 9.7 × 10−7) and 15q22.1–q22.2 (P = 7.3 × 10−6) were our most significant findings in the combined data set. Three chromosomal regions showing association, 3p14.2 (P = 3.6 × 10−6), 3q25–26 (P = 6.0 × 10–5) and 3p23 (P = 3.3 × 10−4) overlapped linkage regions reported in Finnish ASP families, and eight association regions overlapped ASD linkage areas. Our findings suggest that ASP shares both ASD-related genetic risk factors, as well as has genetic risk factors unique to the ASP phenotype. En ligne : http://dx.doi.org/10.1002/aur.158 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115

Conversational gestures in autism spectrum disorders: Asynchrony but not decreased frequency / Ashley B. DE MARCHENA in Autism Research, 3-6 (December 2010)  

Public ISBD [article]  inAutism Research > 3-6 (December 2010) . - p.311-322 Titre : Conversational gestures in autism spectrum disorders: Asynchrony but not decreased frequency Type de document : Texte imprimé et/ou numérique Auteurs : Ashley B. DE MARCHENA, Auteur ; Inge-Marie EIGSTI, Auteur Année de publication : 2010 Article en page(s) : p.311-322 Langues : Anglais (eng) Mots-clés : conversational gestures  autism  synchrony  communication  narratives Index. décimale : PER Périodiques Résumé : Conversational or “co-speech” gestures play an important role in communication, facilitating turntaking, providing visuospatial information, clarifying subtleties of emphasis, and other pragmatic cues. Consistent with other pragmatic language deficits, individuals with autism spectrum disorders (ASD) are said to produce fewer conversational gestures, as specified in many diagnostic measures. Surprisingly, while research shows fewer deictic gestures in young children with ASD, there is a little empirical evidence addressing other forms of gesture. The discrepancy between clinical and empirical observations may reflect impairments unrelated to frequency, such as gesture quality or integration with speech. Adolescents with high-functioning ASD (n=15), matched on age, gender, and IQ to 15 typically developing (TD) adolescents, completed a narrative task to assess the spontaneous production of speech and gesture. Naïve observers rated the stories for communicative quality. Overall, the ASD group's stories were rated as less clear and engaging. Although utterance and gesture rates were comparable, the ASD group's gestures were less closely synchronized with the co-occurring speech, relative to control participants. This gesture–speech synchrony specifically impacted communicative quality across participants. Furthermore, while story ratings were associated with gesture count in TD adolescents, no such relationship was observed in adolescents with ASD, suggesting that gestures do not amplify communication in this population. Quality ratings were, however, correlated with ASD symptom severity scores, such that participants with fewer ASD symptoms were rated as telling higher quality stories. Implications of these findings are discussed in terms of communication and neuropsychological functioning in ASD. En ligne : http://dx.doi.org/10.1002/aur.159 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115 [article] Conversational gestures in autism spectrum disorders: Asynchrony but not decreased frequency [Texte imprimé et/ou numérique] / Ashley B. DE MARCHENA, Auteur ; Inge-Marie EIGSTI, Auteur . - 2010 . - p.311-322. Langues : Anglais (eng) in Autism Research > 3-6 (December 2010) . - p.311-322 Mots-clés : conversational gestures  autism  synchrony  communication  narratives Index. décimale : PER Périodiques Résumé : Conversational or “co-speech” gestures play an important role in communication, facilitating turntaking, providing visuospatial information, clarifying subtleties of emphasis, and other pragmatic cues. Consistent with other pragmatic language deficits, individuals with autism spectrum disorders (ASD) are said to produce fewer conversational gestures, as specified in many diagnostic measures. Surprisingly, while research shows fewer deictic gestures in young children with ASD, there is a little empirical evidence addressing other forms of gesture. The discrepancy between clinical and empirical observations may reflect impairments unrelated to frequency, such as gesture quality or integration with speech. Adolescents with high-functioning ASD (n=15), matched on age, gender, and IQ to 15 typically developing (TD) adolescents, completed a narrative task to assess the spontaneous production of speech and gesture. Naïve observers rated the stories for communicative quality. Overall, the ASD group's stories were rated as less clear and engaging. Although utterance and gesture rates were comparable, the ASD group's gestures were less closely synchronized with the co-occurring speech, relative to control participants. This gesture–speech synchrony specifically impacted communicative quality across participants. Furthermore, while story ratings were associated with gesture count in TD adolescents, no such relationship was observed in adolescents with ASD, suggesting that gestures do not amplify communication in this population. Quality ratings were, however, correlated with ASD symptom severity scores, such that participants with fewer ASD symptoms were rated as telling higher quality stories. Implications of these findings are discussed in terms of communication and neuropsychological functioning in ASD. En ligne : http://dx.doi.org/10.1002/aur.159 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115

Neonatally measured immunoglobulins and risk of autism / Judith K. GRETHER in Autism Research, 3-6 (December 2010)  

Public ISBD [article]  inAutism Research > 3-6 (December 2010) . - p.323-332 Titre : Neonatally measured immunoglobulins and risk of autism Type de document : Texte imprimé et/ou numérique Auteurs : Judith K. GRETHER, Auteur ; Lisa A. CROEN, Auteur ; Meredith C. ANDERSON, Auteur ; Karin B. NELSON, Auteur ; Robert YOLKEN, Auteur Année de publication : 2010 Article en page(s) : p.323-332 Langues : Anglais (eng) Mots-clés : autism  ASD  maternal immune function  immunoglobulins and pregnancy Index. décimale : PER Périodiques Résumé : Previous studies indicate that prenatal exposure to infections is a possible pathway through which autism spectrum disorders (ASD) could be initiated. We investigated whether immunoglobulin levels in archived specimens obtained from newborns subsequently diagnosed with ASD are different from levels in newborn specimens from controls. Children with ASD born in six California counties in 1994 were ascertained through records of the California Department of Developmental Services (DDS) and Kaiser Permanente; controls were randomly selected using birth certificates. Archived newborn blood specimens were obtained from the California Genetic Disease Screening Program (GDSP) for N = 213 cases and N = 265 controls and assayed to determine levels of total IgG, antigen-specific IgG to selected common pathogens, total IgM, total IgA, and C-reactive protein (CRP). We did not find measurable levels of total IgM or IgA in any neonate and measurable CRP was present in only a few. No antigen-specific IgG antibodies were elevated in cases compared to controls and total IgG levels were lower. In adjusted models, a 10-unit increase in total IgG yielded an OR = 0.72 (95% CI 0.56, 0.91); a significantly decreasing trend in risk of ASD was observed across increasing exposure quartiles of total IgG (P = 0.01). The finding of lower IgG in cases may indicate maternal immune dysfunction during gestation and/or impaired transplacental transfer of immunoglobulins. Further investigation of IgG levels in newborns and the mechanisms by which they might be associated with ASD are warranted. En ligne : http://dx.doi.org/10.1002/aur.160 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115 [article] Neonatally measured immunoglobulins and risk of autism [Texte imprimé et/ou numérique] / Judith K. GRETHER, Auteur ; Lisa A. CROEN, Auteur ; Meredith C. ANDERSON, Auteur ; Karin B. NELSON, Auteur ; Robert YOLKEN, Auteur . - 2010 . - p.323-332. Langues : Anglais (eng) in Autism Research > 3-6 (December 2010) . - p.323-332 Mots-clés : autism  ASD  maternal immune function  immunoglobulins and pregnancy Index. décimale : PER Périodiques Résumé : Previous studies indicate that prenatal exposure to infections is a possible pathway through which autism spectrum disorders (ASD) could be initiated. We investigated whether immunoglobulin levels in archived specimens obtained from newborns subsequently diagnosed with ASD are different from levels in newborn specimens from controls. Children with ASD born in six California counties in 1994 were ascertained through records of the California Department of Developmental Services (DDS) and Kaiser Permanente; controls were randomly selected using birth certificates. Archived newborn blood specimens were obtained from the California Genetic Disease Screening Program (GDSP) for N = 213 cases and N = 265 controls and assayed to determine levels of total IgG, antigen-specific IgG to selected common pathogens, total IgM, total IgA, and C-reactive protein (CRP). We did not find measurable levels of total IgM or IgA in any neonate and measurable CRP was present in only a few. No antigen-specific IgG antibodies were elevated in cases compared to controls and total IgG levels were lower. In adjusted models, a 10-unit increase in total IgG yielded an OR = 0.72 (95% CI 0.56, 0.91); a significantly decreasing trend in risk of ASD was observed across increasing exposure quartiles of total IgG (P = 0.01). The finding of lower IgG in cases may indicate maternal immune dysfunction during gestation and/or impaired transplacental transfer of immunoglobulins. Further investigation of IgG levels in newborns and the mechanisms by which they might be associated with ASD are warranted. En ligne : http://dx.doi.org/10.1002/aur.160 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115

Far visual acuity is unremarkable in autism: Do we need to focus on crowding? / Luc KEITA in Autism Research, 3-6 (December 2010)  

Public ISBD [article]  inAutism Research > 3-6 (December 2010) . - p.333-341 Titre : Far visual acuity is unremarkable in autism: Do we need to focus on crowding? Type de document : Texte imprimé et/ou numérique Auteurs : Luc KEITA, Auteur ; Laurent MOTTRON, Auteur ; Armando BERTONE, Auteur Année de publication : 2010 Article en page(s) : p.333-341 Langues : Anglais (eng) Mots-clés : autism  vision  acuity  crowding  neural  lateral interactions Index. décimale : PER Périodiques Résumé : Although autism presents a unique perceptual phenotype defined in part by atypical (often enhanced) analysis of spatial information, few biologically plausible hypotheses have been advanced to explain its neural underpinnings. One plausible explanation is functional but altered lateral connectivity mediating early or local mechanisms selectively responsive to different stimulus attributes, including spatial frequency and contrast. The goal of the present study was first to assess far visual acuity in autism using Landolt-C optotypes defined by different local stimulus attributes. Second, we investigated whether acuity is differentially affected in autism when target optotypes are simultaneously presented with flanking stimuli at different distances. This typical detrimental “crowding effect” of flanking stimuli on target optotype discrimination is attributed to lateral inhibitory interaction of neurons encoding for visual properties of distracters close to the target. Results failed to demonstrate a between-group difference in acuity to Landolt-C optotypes, whether defined by luminance- or texture-contrast. However, the expected crowding effect at one gap-size opening distance was evidenced for the control group only; a small effect was observed for the autism group at two gap-size opening. These results suggest that although far visual acuity is unremarkable in autism, altered local lateral connectivity within early perceptual areas underlying spatial information processing in autism is atypical. Altered local lateral connectivity in autism might originate from an imbalance in excitatory/inhibitory neural signaling, resulting in changes regarding elementary feature extraction and subsequent downstream visual integration and visuo-spatial analysis. This notion is discussed within the context of characteristic lower- and higher-level perceptual processing in autism. En ligne : http://dx.doi.org/10.1002/aur.164 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115 [article] Far visual acuity is unremarkable in autism: Do we need to focus on crowding? [Texte imprimé et/ou numérique] / Luc KEITA, Auteur ; Laurent MOTTRON, Auteur ; Armando BERTONE, Auteur . - 2010 . - p.333-341. Langues : Anglais (eng) in Autism Research > 3-6 (December 2010) . - p.333-341 Mots-clés : autism  vision  acuity  crowding  neural  lateral interactions Index. décimale : PER Périodiques Résumé : Although autism presents a unique perceptual phenotype defined in part by atypical (often enhanced) analysis of spatial information, few biologically plausible hypotheses have been advanced to explain its neural underpinnings. One plausible explanation is functional but altered lateral connectivity mediating early or local mechanisms selectively responsive to different stimulus attributes, including spatial frequency and contrast. The goal of the present study was first to assess far visual acuity in autism using Landolt-C optotypes defined by different local stimulus attributes. Second, we investigated whether acuity is differentially affected in autism when target optotypes are simultaneously presented with flanking stimuli at different distances. This typical detrimental “crowding effect” of flanking stimuli on target optotype discrimination is attributed to lateral inhibitory interaction of neurons encoding for visual properties of distracters close to the target. Results failed to demonstrate a between-group difference in acuity to Landolt-C optotypes, whether defined by luminance- or texture-contrast. However, the expected crowding effect at one gap-size opening distance was evidenced for the control group only; a small effect was observed for the autism group at two gap-size opening. These results suggest that although far visual acuity is unremarkable in autism, altered local lateral connectivity within early perceptual areas underlying spatial information processing in autism is atypical. Altered local lateral connectivity in autism might originate from an imbalance in excitatory/inhibitory neural signaling, resulting in changes regarding elementary feature extraction and subsequent downstream visual integration and visuo-spatial analysis. This notion is discussed within the context of characteristic lower- and higher-level perceptual processing in autism. En ligne : http://dx.doi.org/10.1002/aur.164 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115

Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample / Lynne E. COCHRANE in Autism Research, 3-6 (December 2010)  

Public ISBD [article]  inAutism Research > 3-6 (December 2010) . - p.342-344 Titre : Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample Type de document : Texte imprimé et/ou numérique Auteurs : Lynne E. COCHRANE, Auteur ; Katherine E. TANSEY, Auteur ; Michael GILL, Auteur ; Louise GALLAGHER, Auteur ; Richard ANNEY, Auteur Année de publication : 2010 Article en page(s) : p.342-344 Langues : Anglais (eng) Mots-clés : genetics  allelic association Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder characterized by impairments in three core areas—language, social interaction and restricted/repetitive behaviours. It is generally accepted that genetics plays a large role in the aetiology of autism, but the exact mechanism is still unknown. We recently published evidence of an association between autism and the ITGA4 gene [Conroy et al., 2008]. Two genomic regions have shown evidence of linkage to autism in multiple studies— 2q31-q33 and 17q21-q22. Both of these regions harbour multiple integrin subunit genes. We tested markers in ITGA3, ITGA6, ITGAV and ITGB3 for association with autism in the Irish autism sample. No markers in ITGA3, ITGA6, ITGAV and ITGB3 were found to be associated with autism. Three 3-marker haplotypes in ITGAV, ITGA3 and ITGA6 were found to be nominally associated (0.01 En ligne : http://dx.doi.org/10.1002/aur.157 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115 [article] Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample [Texte imprimé et/ou numérique] / Lynne E. COCHRANE, Auteur ; Katherine E. TANSEY, Auteur ; Michael GILL, Auteur ; Louise GALLAGHER, Auteur ; Richard ANNEY, Auteur . - 2010 . - p.342-344. Langues : Anglais (eng) in Autism Research > 3-6 (December 2010) . - p.342-344 Mots-clés : genetics  allelic association Index. décimale : PER Périodiques Résumé : Autism is a neurodevelopmental disorder characterized by impairments in three core areas—language, social interaction and restricted/repetitive behaviours. It is generally accepted that genetics plays a large role in the aetiology of autism, but the exact mechanism is still unknown. We recently published evidence of an association between autism and the ITGA4 gene [Conroy et al., 2008]. Two genomic regions have shown evidence of linkage to autism in multiple studies— 2q31-q33 and 17q21-q22. Both of these regions harbour multiple integrin subunit genes. We tested markers in ITGA3, ITGA6, ITGAV and ITGB3 for association with autism in the Irish autism sample. No markers in ITGA3, ITGA6, ITGAV and ITGB3 were found to be associated with autism. Three 3-marker haplotypes in ITGAV, ITGA3 and ITGA6 were found to be nominally associated (0.01 En ligne : http://dx.doi.org/10.1002/aur.157 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115

Face processing abilities in relatives of individuals with ASD / Simon WALLACE in Autism Research, 3-6 (December 2010)  

Public ISBD [article]  inAutism Research > 3-6 (December 2010) . - p.345-349 Titre : Face processing abilities in relatives of individuals with ASD Type de document : Texte imprimé et/ou numérique Auteurs : Simon WALLACE, Auteur ; Catherine L. SEBASTIAN, Auteur ; Elizabeth PELLICANO, Auteur ; Jeremy R. PARR, Auteur ; Anthony J. BAILEY, Auteur Année de publication : 2010 Article en page(s) : p.345-349 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  broader autism phenotype  relatives  genetics  face processing Index. décimale : PER Périodiques Résumé : Individuals with an autism spectrum disorder (ASD) show difficulties identifying familiar faces, recognizing emotional expressions and judging eye-gaze direction. Recent research suggests that relatives of individuals with AS also show impairments in some aspects of face processing but no study has comprehensively assessed the nature and extent of face-processing difficulties in a group of relatives. This study compared the performance of 22 parents/adult siblings of individuals with ASD (“relatives” group), 26 adults with ASD, and 26 typically developing adults on tasks of face discrimination, facial expression recognition and judging eye-gaze direction. Relatives of individuals with ASD were less able to discriminate subtle differences between faces than typically developing adults, but were more sensitive to such differences than adults with ASD. Furthermore, relatives were significantly worse at identifying expressions of fear and disgust than typically developing adults and failed to show the typical sensitivity to direct compared with averted eye-gaze direction—a strikingly similar pattern to that observed in adults with ASD. These findings show that atypical patterns of face processing are found in some relatives of individuals with ASD and suggest that these difficulties may represent a cognitive endophenotype. En ligne : http://dx.doi.org/10.1002/aur.161 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115 [article] Face processing abilities in relatives of individuals with ASD [Texte imprimé et/ou numérique] / Simon WALLACE, Auteur ; Catherine L. SEBASTIAN, Auteur ; Elizabeth PELLICANO, Auteur ; Jeremy R. PARR, Auteur ; Anthony J. BAILEY, Auteur . - 2010 . - p.345-349. Langues : Anglais (eng) in Autism Research > 3-6 (December 2010) . - p.345-349 Mots-clés : autism spectrum disorder  broader autism phenotype  relatives  genetics  face processing Index. décimale : PER Périodiques Résumé : Individuals with an autism spectrum disorder (ASD) show difficulties identifying familiar faces, recognizing emotional expressions and judging eye-gaze direction. Recent research suggests that relatives of individuals with AS also show impairments in some aspects of face processing but no study has comprehensively assessed the nature and extent of face-processing difficulties in a group of relatives. This study compared the performance of 22 parents/adult siblings of individuals with ASD (“relatives” group), 26 adults with ASD, and 26 typically developing adults on tasks of face discrimination, facial expression recognition and judging eye-gaze direction. Relatives of individuals with ASD were less able to discriminate subtle differences between faces than typically developing adults, but were more sensitive to such differences than adults with ASD. Furthermore, relatives were significantly worse at identifying expressions of fear and disgust than typically developing adults and failed to show the typical sensitivity to direct compared with averted eye-gaze direction—a strikingly similar pattern to that observed in adults with ASD. These findings show that atypical patterns of face processing are found in some relatives of individuals with ASD and suggest that these difficulties may represent a cognitive endophenotype. En ligne : http://dx.doi.org/10.1002/aur.161 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115

Atypical diffusion tensor hemispheric asymmetry in autism / Nicholas LANGE in Autism Research, 3-6 (December 2010)  

Public ISBD [article]  inAutism Research > 3-6 (December 2010) . - p.350-358 Titre : Atypical diffusion tensor hemispheric asymmetry in autism Type de document : Texte imprimé et/ou numérique Auteurs : Nicholas LANGE, Auteur ; Molly B. DUBRAY, Auteur ; Jee Eun LEE, Auteur ; Michael P. FROIMOWITZ, Auteur ; Alyson L. FROEHLICH, Auteur ; Nagesh ADLURU, Auteur ; Brad WRIGHT, Auteur ; Caitlin RAVICHANDRAN, Auteur ; P. Thomas FLETCHER, Auteur ; Erin D. BIGLER, Auteur ; Andrew A. ALEXANDER, Auteur ; Janet E. LAINHART, Auteur Année de publication : 2010 Article en page(s) : p.350-358 Langues : Anglais (eng) Mots-clés : adaptive functioning  classification  diffusion tensor imaging  hemispheric asymmetry  language functioning Index. décimale : PER Périodiques Résumé : Background: Biological measurements that distinguish individuals with autism from typically developing individuals and those with other developmental and neuropsychiatric disorders must demonstrate very high performance to have clinical value as potential imaging biomarkers. We hypothesized that further study of white matter microstructure (WMM) in the superior temporal gyrus (STG) and temporal stem (TS), two brain regions in the temporal lobe containing circuitry central to language, emotion, and social cognition, would identify a useful combination of classification features and further understand autism neuropathology. Methods: WMM measurements from the STG and TS were examined from 30 high-functioning males satisfying full criteria for idiopathic autism aged 7–28 years and 30 matched controls and a replication sample of 12 males with idiopathic autism and 7 matched controls who participated in a previous case–control diffusion tensor imaging (DTI) study. Language functioning, adaptive functioning, and psychotropic medication usage were also examined. Results: In the STG, we find reversed hemispheric asymmetry of two separable measures of directional diffusion coherence, tensor skewness, and fractional anisotropy. In autism, tensor skewness is greater on the right and fractional anisotropy is decreased on the left. We also find increased diffusion parallel to white matter fibers bilaterally. In the right not left TS, we find increased omnidirectional, parallel, and perpendicular diffusion. These six multivariate measurements possess very high ability to discriminate individuals with autism from individuals without autism with 94% sensitivity, 90% specificity, and 92% accuracy in our original and replication samples. We also report a near-significant association between the classifier and a quantitative trait index of autism and significant correlations between two classifier components and measures of language, IQ, and adaptive functioning in autism. En ligne : http://dx.doi.org/10.1002/aur.162 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115 [article] Atypical diffusion tensor hemispheric asymmetry in autism [Texte imprimé et/ou numérique] / Nicholas LANGE, Auteur ; Molly B. DUBRAY, Auteur ; Jee Eun LEE, Auteur ; Michael P. FROIMOWITZ, Auteur ; Alyson L. FROEHLICH, Auteur ; Nagesh ADLURU, Auteur ; Brad WRIGHT, Auteur ; Caitlin RAVICHANDRAN, Auteur ; P. Thomas FLETCHER, Auteur ; Erin D. BIGLER, Auteur ; Andrew A. ALEXANDER, Auteur ; Janet E. LAINHART, Auteur . - 2010 . - p.350-358. Langues : Anglais (eng) in Autism Research > 3-6 (December 2010) . - p.350-358 Mots-clés : adaptive functioning  classification  diffusion tensor imaging  hemispheric asymmetry  language functioning Index. décimale : PER Périodiques Résumé : Background: Biological measurements that distinguish individuals with autism from typically developing individuals and those with other developmental and neuropsychiatric disorders must demonstrate very high performance to have clinical value as potential imaging biomarkers. We hypothesized that further study of white matter microstructure (WMM) in the superior temporal gyrus (STG) and temporal stem (TS), two brain regions in the temporal lobe containing circuitry central to language, emotion, and social cognition, would identify a useful combination of classification features and further understand autism neuropathology. Methods: WMM measurements from the STG and TS were examined from 30 high-functioning males satisfying full criteria for idiopathic autism aged 7–28 years and 30 matched controls and a replication sample of 12 males with idiopathic autism and 7 matched controls who participated in a previous case–control diffusion tensor imaging (DTI) study. Language functioning, adaptive functioning, and psychotropic medication usage were also examined. Results: In the STG, we find reversed hemispheric asymmetry of two separable measures of directional diffusion coherence, tensor skewness, and fractional anisotropy. In autism, tensor skewness is greater on the right and fractional anisotropy is decreased on the left. We also find increased diffusion parallel to white matter fibers bilaterally. In the right not left TS, we find increased omnidirectional, parallel, and perpendicular diffusion. These six multivariate measurements possess very high ability to discriminate individuals with autism from individuals without autism with 94% sensitivity, 90% specificity, and 92% accuracy in our original and replication samples. We also report a near-significant association between the classifier and a quantitative trait index of autism and significant correlations between two classifier components and measures of language, IQ, and adaptive functioning in autism. En ligne : http://dx.doi.org/10.1002/aur.162 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115

Lay abstracts in Autism Research, 3-6 (December 2010)  

Public ISBD [article]  inAutism Research > 3-6 (December 2010) . - p.359–362 Titre : Lay abstracts Type de document : Texte imprimé et/ou numérique Année de publication : 2010 Article en page(s) : p.359–362 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.171 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115 [article] Lay abstracts [Texte imprimé et/ou numérique] . - 2010 . - p.359–362. Langues : Anglais (eng) in Autism Research > 3-6 (December 2010) . - p.359–362 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.171 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115