13 recherche sur le mot-clé 'paracentric-inversion'

Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility / Holly N. CUKIER in Autism Research, 2-5 (October 2009)  

Public ISBD [article]  inAutism Research > 2-5 (October 2009) . - p.258-266 Titre : Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility Type de document : texte imprimé Auteurs : Holly N. CUKIER, Auteur ; Michael L. CUCCARO, Auteur ; John R. GILBERT, Auteur ; Margaret A.O. PERICAK-VANCE, Auteur ; David A. SKAAR, Auteur ; Melissa Y. RAYNER-EVANS, Auteur ; Ioanna KONIDARI, Auteur ; Patrice L. WHITEHEAD, Auteur ; James M. JAWORSKI, Auteur Année de publication : 2009 Article en page(s) : p.258-266 Langues : Anglais (eng) Mots-clés : molecular-genetics paracentric-inversion fluorescent-in-situ-hybridization-(FISH) genome-wide-association-study-(GWAS) Index. décimale : PER Périodiques Résumé : Chromosomal breaks and rearrangements have been observed in conjunction with autism and autistic spectrum disorders. A chromosomal inversion has been previously reported in autistic siblings, spanning the region from approximately 7q22.1 to 7q31. This family is distinguished by having multiple individuals with autism and associated disabilities. The region containing the inversion has been strongly implicated in autism by multiple linkage studies, and has been particularly associated with language defects in autism as well as in other disorders with language components. Mapping of the inversion breakpoints by FISH has localized the inversion to the region spanning approximately 99-108.75 Mb of chromosome 7. The proximal breakpoint has the potential to disrupt either the coding sequence or regulatory regions of a number of cytochrome P450 genes while the distal region falls in a relative gene desert. Copy number variant analysis of the breakpoint regions detected no duplication or deletion that could clearly be associated with disease status. Association analysis in our autism data set using single nucleotide polymorphisms located near the breakpoints showed no significant association with proximal breakpoint markers, but has identified markers near the distal breakpoint (108-110 Mb) with significant associations to autism. The chromosomal abnormality in this family strengthens the case for an autism susceptibility gene in the chromosome 7q22-31 region and targets a candidate region for further investigation. En ligne : http://dx.doi.org/10.1002/aur.96 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=938 [article] Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility [texte imprimé] / Holly N. CUKIER, Auteur ; Michael L. CUCCARO, Auteur ; John R. GILBERT, Auteur ; Margaret A.O. PERICAK-VANCE, Auteur ; David A. SKAAR, Auteur ; Melissa Y. RAYNER-EVANS, Auteur ; Ioanna KONIDARI, Auteur ; Patrice L. WHITEHEAD, Auteur ; James M. JAWORSKI, Auteur . - 2009 . - p.258-266. Langues : Anglais (eng) in Autism Research > 2-5 (October 2009) . - p.258-266 Mots-clés : molecular-genetics paracentric-inversion fluorescent-in-situ-hybridization-(FISH) genome-wide-association-study-(GWAS) Index. décimale : PER Périodiques Résumé : Chromosomal breaks and rearrangements have been observed in conjunction with autism and autistic spectrum disorders. A chromosomal inversion has been previously reported in autistic siblings, spanning the region from approximately 7q22.1 to 7q31. This family is distinguished by having multiple individuals with autism and associated disabilities. The region containing the inversion has been strongly implicated in autism by multiple linkage studies, and has been particularly associated with language defects in autism as well as in other disorders with language components. Mapping of the inversion breakpoints by FISH has localized the inversion to the region spanning approximately 99-108.75 Mb of chromosome 7. The proximal breakpoint has the potential to disrupt either the coding sequence or regulatory regions of a number of cytochrome P450 genes while the distal region falls in a relative gene desert. Copy number variant analysis of the breakpoint regions detected no duplication or deletion that could clearly be associated with disease status. Association analysis in our autism data set using single nucleotide polymorphisms located near the breakpoints showed no significant association with proximal breakpoint markers, but has identified markers near the distal breakpoint (108-110 Mb) with significant associations to autism. The chromosomal abnormality in this family strengthens the case for an autism susceptibility gene in the chromosome 7q22-31 region and targets a candidate region for further investigation. En ligne : http://dx.doi.org/10.1002/aur.96 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=938

Brief Report: Perception of Body Posture—What Individuals With Autism Spectrum Disorder might be Missing / Catherine L. REED in Journal of Autism and Developmental Disorders, 37-8 (September 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-8 (September 2007) . - p.1576-1584 Titre : Brief Report: Perception of Body Posture—What Individuals With Autism Spectrum Disorder might be Missing Type de document : texte imprimé Auteurs : Catherine L. REED, Auteur ; Susan HEPBURN, Auteur ; Valérie E. STONE, Auteur ; Paula M. BEALL, Auteur ; Lila KOPELIOFF, Auteur ; Danielle J. PULHAM, Auteur Année de publication : 2007 Article en page(s) : p.1576-1584 Langues : Anglais (eng) Mots-clés : Autism Face-inversion-effect Body-inversion-effect Configural-processing Face-recognition Index. décimale : PER Périodiques Résumé : Autism has been associated with atypical face and configural processing, as indicated by the lack of a face inversion effect (better recognition of upright than inverted faces). We investigated whether such atypical processing was restricted to the face or extended to social information found in body postures. An inversion paradigm compared recognition of upright and inverted faces, body postures, and houses. Typical adults demonstrated inversion effects for both faces and body postures, but adults with autism demonstrated only a face inversion effect. Adults with autism may not have a configural processing deficit per se, but instead may have strategies for recognizing faces not used for body postures. Results have implications for therapies employing training in imitation and body posture perception. En ligne : http://dx.doi.org/10.1007/s10803-006-0220-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=165 [article] Brief Report: Perception of Body Posture—What Individuals With Autism Spectrum Disorder might be Missing [texte imprimé] / Catherine L. REED, Auteur ; Susan HEPBURN, Auteur ; Valérie E. STONE, Auteur ; Paula M. BEALL, Auteur ; Lila KOPELIOFF, Auteur ; Danielle J. PULHAM, Auteur . - 2007 . - p.1576-1584. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-8 (September 2007) . - p.1576-1584 Mots-clés : Autism Face-inversion-effect Body-inversion-effect Configural-processing Face-recognition Index. décimale : PER Périodiques Résumé : Autism has been associated with atypical face and configural processing, as indicated by the lack of a face inversion effect (better recognition of upright than inverted faces). We investigated whether such atypical processing was restricted to the face or extended to social information found in body postures. An inversion paradigm compared recognition of upright and inverted faces, body postures, and houses. Typical adults demonstrated inversion effects for both faces and body postures, but adults with autism demonstrated only a face inversion effect. Adults with autism may not have a configural processing deficit per se, but instead may have strategies for recognizing faces not used for body postures. Results have implications for therapies employing training in imitation and body posture perception. En ligne : http://dx.doi.org/10.1007/s10803-006-0220-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=165

Face and Object Discrimination in Autism, and Relationship to IQ and Age / Pamela M. PALLETT in Journal of Autism and Developmental Disorders, 44-5 (May 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-5 (May 2014) . - p.1039-1054 Titre : Face and Object Discrimination in Autism, and Relationship to IQ and Age Type de document : texte imprimé Auteurs : Pamela M. PALLETT, Auteur ; Shereen J. COHEN, Auteur ; Karen R. DOBKINS, Auteur Année de publication : 2014 Article en page(s) : p.1039-1054 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorders  Face processing  Object processing  Inversion effects  Adolescents  Development Index. décimale : PER Périodiques Résumé : The current study tested fine discrimination of upright and inverted faces and objects in adolescents with Autism Spectrum Disorder (ASD) as compared to age- and IQ-matched controls. Discrimination sensitivity was tested using morphed faces and morphed objects, and all stimuli were equated in low-level visual characteristics (luminance, contrast, spatial frequency make-up). Participants with ASD exhibited slight, non-significant impairments in discrimination sensitivity for faces, yet significantly enhanced discrimination sensitivity for objects. The ASD group also showed a protracted development of face and object inversion effects. Finally, for ASD participants, face sensitivity improved with increasing IQ while object sensitivity improved with age. By contrast, for controls, face sensitivity improved with age, but neither face nor object sensitivity was influenced by IQ. These findings suggest that individuals with ASD follow a qualitatively different path in the development of face and object processing abilities. En ligne : http://dx.doi.org/10.1007/s10803-013-1955-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=232 [article] Face and Object Discrimination in Autism, and Relationship to IQ and Age [texte imprimé] / Pamela M. PALLETT, Auteur ; Shereen J. COHEN, Auteur ; Karen R. DOBKINS, Auteur . - 2014 . - p.1039-1054. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-5 (May 2014) . - p.1039-1054 Mots-clés : Autism Spectrum Disorders  Face processing  Object processing  Inversion effects  Adolescents  Development Index. décimale : PER Périodiques Résumé : The current study tested fine discrimination of upright and inverted faces and objects in adolescents with Autism Spectrum Disorder (ASD) as compared to age- and IQ-matched controls. Discrimination sensitivity was tested using morphed faces and morphed objects, and all stimuli were equated in low-level visual characteristics (luminance, contrast, spatial frequency make-up). Participants with ASD exhibited slight, non-significant impairments in discrimination sensitivity for faces, yet significantly enhanced discrimination sensitivity for objects. The ASD group also showed a protracted development of face and object inversion effects. Finally, for ASD participants, face sensitivity improved with increasing IQ while object sensitivity improved with age. By contrast, for controls, face sensitivity improved with age, but neither face nor object sensitivity was influenced by IQ. These findings suggest that individuals with ASD follow a qualitatively different path in the development of face and object processing abilities. En ligne : http://dx.doi.org/10.1007/s10803-013-1955-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=232

Fast Periodic Visual Stimulation EEG Reveals Reduced Neural Sensitivity to Fearful Faces in Children with Autism / Stephanie VAN DER DONCK in Journal of Autism and Developmental Disorders, 49-11 (November 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-11 (November 2019) . - p.4658-4673 Titre : Fast Periodic Visual Stimulation EEG Reveals Reduced Neural Sensitivity to Fearful Faces in Children with Autism Type de document : texte imprimé Auteurs : Stephanie VAN DER DONCK, Auteur ; Milena DZHELYOVA, Auteur ; Sofie VETTORI, Auteur ; Hella THIELEN, Auteur ; Jean STEYAERT, Auteur ; Bruno ROSSION, Auteur ; Bart BOETS, Auteur Article en page(s) : p.4658-4673 Langues : Anglais (eng) Mots-clés : Autism  Eeg  Fpvs  Face inversion effect  Facial emotion processing  Implicit fear detection Index. décimale : PER Périodiques Résumé : We objectively quantified the neural sensitivity of school-aged boys with and without autism spectrum disorder (ASD) to detect briefly presented fearful expressions by combining fast periodic visual stimulation with frequency-tagging electroencephalography. Images of neutral faces were presented at 6 Hz, periodically interleaved with fearful expressions at 1.2 Hz oddball rate. While both groups equally display the face inversion effect and mainly rely on information from the mouth to detect fearful expressions, boys with ASD generally show reduced neural responses to rapid changes in expression. At an individual level, fear discrimination responses predict clinical status with an 83% accuracy. This implicit and straightforward approach identifies subtle deficits that remain concealed in behavioral tasks, thereby opening new perspectives for clinical diagnosis. En ligne : http://dx.doi.org/10.1007/s10803-019-04172-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408 [article] Fast Periodic Visual Stimulation EEG Reveals Reduced Neural Sensitivity to Fearful Faces in Children with Autism [texte imprimé] / Stephanie VAN DER DONCK, Auteur ; Milena DZHELYOVA, Auteur ; Sofie VETTORI, Auteur ; Hella THIELEN, Auteur ; Jean STEYAERT, Auteur ; Bruno ROSSION, Auteur ; Bart BOETS, Auteur . - p.4658-4673. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-11 (November 2019) . - p.4658-4673 Mots-clés : Autism  Eeg  Fpvs  Face inversion effect  Facial emotion processing  Implicit fear detection Index. décimale : PER Périodiques Résumé : We objectively quantified the neural sensitivity of school-aged boys with and without autism spectrum disorder (ASD) to detect briefly presented fearful expressions by combining fast periodic visual stimulation with frequency-tagging electroencephalography. Images of neutral faces were presented at 6 Hz, periodically interleaved with fearful expressions at 1.2 Hz oddball rate. While both groups equally display the face inversion effect and mainly rely on information from the mouth to detect fearful expressions, boys with ASD generally show reduced neural responses to rapid changes in expression. At an individual level, fear discrimination responses predict clinical status with an 83% accuracy. This implicit and straightforward approach identifies subtle deficits that remain concealed in behavioral tasks, thereby opening new perspectives for clinical diagnosis. En ligne : http://dx.doi.org/10.1007/s10803-019-04172-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408

Human Versus Non-Human Face Processing: Evidence from Williams Syndrome / Andreia SANTOS in Journal of Autism and Developmental Disorders, 39-11 (November 2009)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 39-11 (November 2009) . - p.1552-1559 Titre : Human Versus Non-Human Face Processing: Evidence from Williams Syndrome Type de document : texte imprimé Auteurs : Andreia SANTOS, Auteur ; Christine DERUELLE, Auteur ; Delphine ROSSET, Auteur Année de publication : 2009 Article en page(s) : p.1552-1559 Langues : Anglais (eng) Mots-clés : Facial-expressions Cartoon-faces Inversion-effect Williams-syndrome Index. décimale : PER Périodiques Résumé : Increased motivation towards social stimuli in Williams syndrome (WS) led us to hypothesize that a face’s human status would have greater impact than face’s orientation on WS’ face processing abilities. Twenty-nine individuals with WS were asked to categorize facial emotion expressions in real, human cartoon and non-human cartoon faces presented upright and inverted. When compared to both chronological and mental age-matched controls, WS participants were able to categorize emotions from human, but not from non-human faces. The use of different perceptual strategies to process human and non-human faces could not explain this dissociation. Rather, the findings suggest an increased sensitivity to socially relevant cues, such as human facial features, possibly related to the hallmark feature of WS—hypersociability. En ligne : http://dx.doi.org/10.1007/s10803-009-0789-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=849 [article] Human Versus Non-Human Face Processing: Evidence from Williams Syndrome [texte imprimé] / Andreia SANTOS, Auteur ; Christine DERUELLE, Auteur ; Delphine ROSSET, Auteur . - 2009 . - p.1552-1559. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 39-11 (November 2009) . - p.1552-1559 Mots-clés : Facial-expressions Cartoon-faces Inversion-effect Williams-syndrome Index. décimale : PER Périodiques Résumé : Increased motivation towards social stimuli in Williams syndrome (WS) led us to hypothesize that a face’s human status would have greater impact than face’s orientation on WS’ face processing abilities. Twenty-nine individuals with WS were asked to categorize facial emotion expressions in real, human cartoon and non-human cartoon faces presented upright and inverted. When compared to both chronological and mental age-matched controls, WS participants were able to categorize emotions from human, but not from non-human faces. The use of different perceptual strategies to process human and non-human faces could not explain this dissociation. Rather, the findings suggest an increased sensitivity to socially relevant cues, such as human facial features, possibly related to the hallmark feature of WS—hypersociability. En ligne : http://dx.doi.org/10.1007/s10803-009-0789-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=849

Inversion effects in the perception of the moving human form: A comparison of adolescents with autism spectrum disorder and typically developing adolescents / Laura CLEARY in Autism, 18-8 (November 2014)  

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Labelling faces as 'Autistic' reduces the inversion effect / Ciro CIVILE in Autism, 23-6 (August 2019)  

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Recognition of Facial Expressions and Prosodic Cues with Graded Emotional Intensities in Adults with Asperger Syndrome / Hirokazu DOI in Journal of Autism and Developmental Disorders, 43-9 (September 2013)  

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The development of perceptual expertise for faces and objects in autism spectrum conditions / Cara R. DAMIANO in Autism Research, 4-4 (August 2011)  

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The Effect of Inversion on Face Recognition in Adults with Autism Spectrum Disorder / Darren HEDLEY in Journal of Autism and Developmental Disorders, 45-5 (May 2015)  

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