An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome / R. AZUMA in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.1 Titre : An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : R. AZUMA, Auteur ; Quinton DEELEY, Auteur ; Linda E. CAMPBELL, Auteur ; Eileen DALY, Auteur ; V. GIAMPIETRO, Auteur ; Michael BRAMMER, Auteur ; K. C. MURPHY, Auteur ; D. G. MURPHY, Auteur Article en page(s) : p.1 Langues : Anglais (eng) Mots-clés : 22q11.2 deletion syndrome (22q11DS)  Children  Emotion  Social cognition  Velo-cardio-facial syndrome (VCFS)  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS, velo-cardio-facial syndrome [VCFS]) is a genetic disorder associated with interstitial deletions of chromosome 22q11.2. In addition to high rates of neuropsychiatric disorders, children with 22q11DS have impairments of face processing, as well as IQ-independent deficits in visuoperceptual function and social and abstract reasoning. These face-processing deficits may contribute to the social impairments of 22q11DS. However, their neurobiological basis is poorly understood. METHODS: We used event-related functional magnetic resonance imaging (fMRI) to examine neural responses when children with 22q11DS (aged 9-17 years) and healthy controls (aged 8-17 years) incidentally processed neutral expressions and mild (50%) and intense (100%) expressions of fear and disgust. We included 28 right-handed children and adolescents: 14 with 22q11DS and 14 healthy (including nine siblings) controls. RESULTS: Within groups, contrasts showed that individuals significantly activated 'face responsive' areas when viewing neutral faces, including fusiform-extrastriate cortices. Further, within both groups, there was a significant positive linear trend in activation of fusiform-extrastriate cortices and cerebellum to increasing intensities of fear. There were, however, also between-group differences. Children with 22q11DS generally showed reduced activity as compared to controls in brain regions involved in social cognition and emotion processing across emotion types and intensities, including fusiform-extrastriate cortices, anterior cingulate cortex (Brodmann area (BA) 24/32), and superomedial prefrontal cortices (BA 6). Also, an exploratory correlation analysis showed that within 22q11DS children reduced activation was associated with behavioural impairment-social difficulties (measured using the Total Difficulties Score from the Strengths and Difficulties Questionnaire [SDQ]) were significantly negatively correlated with brain activity during fear and disgust processing (respectively) in the left precentral gyrus (BA 4) and in the left fusiform gyrus (FG, BA 19), right lingual gyrus (BA 18), and bilateral cerebellum. CONCLUSIONS: Regions involved in face processing, including fusiform-extrastriate cortices, anterior cingulate gyri, and superomedial prefrontal cortices (BA 6), are activated by facial expressions of fearful, disgusted, and neutral expressions in children with 22q11DS but generally to a lesser degree than in controls. Hypoactivation in these regions may partly explain the social impairments of children with 22q11DS. En ligne : http://dx.doi.org/10.1186/1866-1955-7-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome [Texte imprimé et/ou numérique] / R. AZUMA, Auteur ; Quinton DEELEY, Auteur ; Linda E. CAMPBELL, Auteur ; Eileen DALY, Auteur ; V. GIAMPIETRO, Auteur ; Michael BRAMMER, Auteur ; K. C. MURPHY, Auteur ; D. G. MURPHY, Auteur . - p.1. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.1 Mots-clés : 22q11.2 deletion syndrome (22q11DS)  Children  Emotion  Social cognition  Velo-cardio-facial syndrome (VCFS)  fMRI Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS, velo-cardio-facial syndrome [VCFS]) is a genetic disorder associated with interstitial deletions of chromosome 22q11.2. In addition to high rates of neuropsychiatric disorders, children with 22q11DS have impairments of face processing, as well as IQ-independent deficits in visuoperceptual function and social and abstract reasoning. These face-processing deficits may contribute to the social impairments of 22q11DS. However, their neurobiological basis is poorly understood. METHODS: We used event-related functional magnetic resonance imaging (fMRI) to examine neural responses when children with 22q11DS (aged 9-17 years) and healthy controls (aged 8-17 years) incidentally processed neutral expressions and mild (50%) and intense (100%) expressions of fear and disgust. We included 28 right-handed children and adolescents: 14 with 22q11DS and 14 healthy (including nine siblings) controls. RESULTS: Within groups, contrasts showed that individuals significantly activated 'face responsive' areas when viewing neutral faces, including fusiform-extrastriate cortices. Further, within both groups, there was a significant positive linear trend in activation of fusiform-extrastriate cortices and cerebellum to increasing intensities of fear. There were, however, also between-group differences. Children with 22q11DS generally showed reduced activity as compared to controls in brain regions involved in social cognition and emotion processing across emotion types and intensities, including fusiform-extrastriate cortices, anterior cingulate cortex (Brodmann area (BA) 24/32), and superomedial prefrontal cortices (BA 6). Also, an exploratory correlation analysis showed that within 22q11DS children reduced activation was associated with behavioural impairment-social difficulties (measured using the Total Difficulties Score from the Strengths and Difficulties Questionnaire [SDQ]) were significantly negatively correlated with brain activity during fear and disgust processing (respectively) in the left precentral gyrus (BA 4) and in the left fusiform gyrus (FG, BA 19), right lingual gyrus (BA 18), and bilateral cerebellum. CONCLUSIONS: Regions involved in face processing, including fusiform-extrastriate cortices, anterior cingulate gyri, and superomedial prefrontal cortices (BA 6), are activated by facial expressions of fearful, disgusted, and neutral expressions in children with 22q11DS but generally to a lesser degree than in controls. Hypoactivation in these regions may partly explain the social impairments of children with 22q11DS. En ligne : http://dx.doi.org/10.1186/1866-1955-7-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Divergent Patterns of Social Cognition Performance in Autism and 22q11.2 Deletion Syndrome (22q11DS) / Kathryn L. MCCABE in Journal of Autism and Developmental Disorders, 43-8 (August 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-8 (August 2013) . - p.1926-1934 Titre : Divergent Patterns of Social Cognition Performance in Autism and 22q11.2 Deletion Syndrome (22q11DS) Type de document : Texte imprimé et/ou numérique Auteurs : Kathryn L. MCCABE, Auteur ; Jessica L. MELVILLE, Auteur ; Dominique RICH, Auteur ; Paul A. STRUTT, Auteur ; Gavin COOPER, Auteur ; Carmel M. LOUGHLAND, Auteur ; Ulrich SCHALL, Auteur ; Linda E. CAMPBELL, Auteur Article en page(s) : p.1926-1934 Langues : Anglais (eng) Mots-clés : Autism  Velo-cardio-facial syndrome (VCFS)  Face processing  Visual information processing Index. décimale : PER Périodiques Résumé : Individuals with developmental disorders frequently report a range of social cognition deficits including difficulties identifying facial displays of emotion. This study examined the specificity of face emotion processing deficits in adolescents with either autism or 22q11DS compared to typically developing (TD) controls. Two tasks (face emotion recognition and weather scene recognition) were used to explore group differences in visual scanpath strategy and concurrent recognition accuracy. For faces, the autism and 22q11DS groups demonstrated lower emotion recognition accuracy and fewer fixations compared to the TD group. Individuals with autism demonstrated fewer fixations to some weather scene stimuli compared to 22q11DS and TD groups, yet achieved a level of recognition accuracy comparable to the TD group. These findings provide evidence for a divergent pattern of social cognition dysfunction in autism and 22q11DS. En ligne : http://dx.doi.org/10.1007/s10803-012-1742-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=205 [article] Divergent Patterns of Social Cognition Performance in Autism and 22q11.2 Deletion Syndrome (22q11DS) [Texte imprimé et/ou numérique] / Kathryn L. MCCABE, Auteur ; Jessica L. MELVILLE, Auteur ; Dominique RICH, Auteur ; Paul A. STRUTT, Auteur ; Gavin COOPER, Auteur ; Carmel M. LOUGHLAND, Auteur ; Ulrich SCHALL, Auteur ; Linda E. CAMPBELL, Auteur . - p.1926-1934. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-8 (August 2013) . - p.1926-1934 Mots-clés : Autism  Velo-cardio-facial syndrome (VCFS)  Face processing  Visual information processing Index. décimale : PER Périodiques Résumé : Individuals with developmental disorders frequently report a range of social cognition deficits including difficulties identifying facial displays of emotion. This study examined the specificity of face emotion processing deficits in adolescents with either autism or 22q11DS compared to typically developing (TD) controls. Two tasks (face emotion recognition and weather scene recognition) were used to explore group differences in visual scanpath strategy and concurrent recognition accuracy. For faces, the autism and 22q11DS groups demonstrated lower emotion recognition accuracy and fewer fixations compared to the TD group. Individuals with autism demonstrated fewer fixations to some weather scene stimuli compared to 22q11DS and TD groups, yet achieved a level of recognition accuracy comparable to the TD group. These findings provide evidence for a divergent pattern of social cognition dysfunction in autism and 22q11DS. En ligne : http://dx.doi.org/10.1007/s10803-012-1742-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=205

'If I don?t Do It, I?m Out of Rhythm and I Can?t Focus As Well': Positive and Negative Adult Interpretations of Therapies Aimed at 'Fixing' Their Restricted and Repetitive Behaviours in Childhood / Lynne MCCORMACK in Journal of Autism and Developmental Disorders, 53-9 (September 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-9 (September 2023) . - p.3435-3448 Titre : 'If I don?t Do It, I?m Out of Rhythm and I Can?t Focus As Well': Positive and Negative Adult Interpretations of Therapies Aimed at 'Fixing' Their Restricted and Repetitive Behaviours in Childhood Type de document : Texte imprimé et/ou numérique Auteurs : Lynne MCCORMACK, Auteur ; Sze Wing WONG, Auteur ; Linda E. CAMPBELL, Auteur Article en page(s) : p.3435-3448 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Restricted and repetitive behaviours (RRBs) are observed in many children presenting with characteristics of autism and are frequently the targets of psychological interventions. This study used Interpretative Phenomenological Analysis (IPA) to identify positive and negative interpretations from four young adults who received behavioural interventions in their childhood designed to 'fix' RRBs. Two superordinate themes were identified: (1) Doubt, stigma and being fixed according to others, and (2) Embracing Authenticity. They highlighted juxtaposed positions from exclusion, rejection, criticism, and self-doubt in childhood, to rejecting societal censure and embracing authentic growth in adult life. As adults, though the participants recognised themselves as neurologically different from others, they redefined themselves through a lens of neurodiversity, and therefore as not needing to be fixed. En ligne : https://doi.org/10.1007/s10803-022-05644-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=511 [article] 'If I don?t Do It, I?m Out of Rhythm and I Can?t Focus As Well': Positive and Negative Adult Interpretations of Therapies Aimed at 'Fixing' Their Restricted and Repetitive Behaviours in Childhood [Texte imprimé et/ou numérique] / Lynne MCCORMACK, Auteur ; Sze Wing WONG, Auteur ; Linda E. CAMPBELL, Auteur . - p.3435-3448. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-9 (September 2023) . - p.3435-3448 Index. décimale : PER Périodiques Résumé : Restricted and repetitive behaviours (RRBs) are observed in many children presenting with characteristics of autism and are frequently the targets of psychological interventions. This study used Interpretative Phenomenological Analysis (IPA) to identify positive and negative interpretations from four young adults who received behavioural interventions in their childhood designed to 'fix' RRBs. Two superordinate themes were identified: (1) Doubt, stigma and being fixed according to others, and (2) Embracing Authenticity. They highlighted juxtaposed positions from exclusion, rejection, criticism, and self-doubt in childhood, to rejecting societal censure and embracing authentic growth in adult life. As adults, though the participants recognised themselves as neurologically different from others, they redefined themselves through a lens of neurodiversity, and therefore as not needing to be fixed. En ligne : https://doi.org/10.1007/s10803-022-05644-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=511

Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)? / Linda E. CAMPBELL in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.152-61 Titre : Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)? Type de document : Texte imprimé et/ou numérique Auteurs : Linda E. CAMPBELL, Auteur ; A. F. STEVENS, Auteur ; K. MCCABE, Auteur ; L. CRUICKSHANK, Auteur ; R. G. MORRIS, Auteur ; D. G. MURPHY, Auteur ; K. C. MURPHY, Auteur Article en page(s) : p.152-61 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Social dysfunction is intrinsically involved in severe psychiatric disorders such as depression and psychosis and linked with poor theory of mind. Children with 22q11.2 deletion syndrome (22q11DS, or velo-cardio-facial syndrome) have poor social competence and are also at a particularly high risk of developing mood (40%) and psychotic (up to 30%) disorders in adolescence and young adulthood. However, it is unknown if these problems are associated with theory of mind skills, including underlying social-cognitive and social-perceptual mechanisms. The present cross-sectional study included classic social-cognitive false-belief and mentalising tasks and social-perceptual face processing tasks. The performance of 50 children with 22q11DS was compared with 31 age-matched typically developing sibling controls. Key findings indicated that, while younger children with 22q11DS showed impaired acquisition of social-cognitive skills, older children with 22q11DS were not significantly impaired compared with sibling controls. However, children with 22q11DS were found to have social-perceptual deficits, as demonstrated by difficulties in matching faces on the basis of identity, emotion, facial speech and gaze compared with sibling controls. Furthermore, performance on the tasks was associated with age, language ability and parentally rated social competence and emotional problems. These results are discussed in relation to the importance of a better delineation of social competence in this population. En ligne : http://dx.doi.org/10.1007/s11689-011-9082-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)? [Texte imprimé et/ou numérique] / Linda E. CAMPBELL, Auteur ; A. F. STEVENS, Auteur ; K. MCCABE, Auteur ; L. CRUICKSHANK, Auteur ; R. G. MORRIS, Auteur ; D. G. MURPHY, Auteur ; K. C. MURPHY, Auteur . - p.152-61. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.152-61 Index. décimale : PER Périodiques Résumé : Social dysfunction is intrinsically involved in severe psychiatric disorders such as depression and psychosis and linked with poor theory of mind. Children with 22q11.2 deletion syndrome (22q11DS, or velo-cardio-facial syndrome) have poor social competence and are also at a particularly high risk of developing mood (40%) and psychotic (up to 30%) disorders in adolescence and young adulthood. However, it is unknown if these problems are associated with theory of mind skills, including underlying social-cognitive and social-perceptual mechanisms. The present cross-sectional study included classic social-cognitive false-belief and mentalising tasks and social-perceptual face processing tasks. The performance of 50 children with 22q11DS was compared with 31 age-matched typically developing sibling controls. Key findings indicated that, while younger children with 22q11DS showed impaired acquisition of social-cognitive skills, older children with 22q11DS were not significantly impaired compared with sibling controls. However, children with 22q11DS were found to have social-perceptual deficits, as demonstrated by difficulties in matching faces on the basis of identity, emotion, facial speech and gaze compared with sibling controls. Furthermore, performance on the tasks was associated with age, language ability and parentally rated social competence and emotional problems. These results are discussed in relation to the importance of a better delineation of social competence in this population. En ligne : http://dx.doi.org/10.1007/s11689-011-9082-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Pre-pulse inhibition and antisaccade performance indicate impaired attention modulation of cognitive inhibition in 22q11.2 deletion syndrome (22q11DS) / K. L. MCCABE in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.38 Titre : Pre-pulse inhibition and antisaccade performance indicate impaired attention modulation of cognitive inhibition in 22q11.2 deletion syndrome (22q11DS) Type de document : Texte imprimé et/ou numérique Auteurs : K. L. MCCABE, Auteur ; R. J. ATKINSON, Auteur ; Gavin COOPER, Auteur ; J. L. MELVILLE, Auteur ; J. HARRIS, Auteur ; U. SCHALL, Auteur ; C. M. LOUGHLAND, Auteur ; R. THIENEL, Auteur ; Linda E. CAMPBELL, Auteur Article en page(s) : p.38 Langues : Anglais (eng) Mots-clés : Antisaccade  Neurocognition  Ppf  Ppi  Startle modification Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is associated with a number of physical anomalies and neuropsychological deficits including impairments in executive and sensorimotor function. It is estimated that 25% of children with 22q11DS will develop schizophrenia and other psychotic disorders later in life. Evidence of genetic transmission of information processing deficits in schizophrenia suggests performance in 22q11DS individuals will enhance understanding of the neurobiological and genetic substrates associated with information processing. In this report, we examine information processing in 22q11DS using measures of startle eyeblink modification and antisaccade inhibition to explore similarities with schizophrenia and associations with neurocognitive performance. METHODS: Startle modification (passive and active tasks; 120- and 480-ms pre-pulse intervals) and antisaccade inhibition were measured in 25 individuals with genetically confirmed 22q11DS and 30 healthy control subjects. RESULTS: Individuals with 22q11DS exhibited increased antisaccade error as well as some evidence (trend-level effect) of impaired sensorimotor gating during the active condition, suggesting a dysfunction in controlled attentional processing, rather than a pre-attentive dysfunction using this paradigm. CONCLUSIONS: The findings from the present study show similarities with previous studies in clinical populations associated with 22q11DS such as schizophrenia that may indicate shared dysfunction of inhibition pathways in these groups. En ligne : http://dx.doi.org/10.1186/1866-1955-6-38 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Pre-pulse inhibition and antisaccade performance indicate impaired attention modulation of cognitive inhibition in 22q11.2 deletion syndrome (22q11DS) [Texte imprimé et/ou numérique] / K. L. MCCABE, Auteur ; R. J. ATKINSON, Auteur ; Gavin COOPER, Auteur ; J. L. MELVILLE, Auteur ; J. HARRIS, Auteur ; U. SCHALL, Auteur ; C. M. LOUGHLAND, Auteur ; R. THIENEL, Auteur ; Linda E. CAMPBELL, Auteur . - p.38. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.38 Mots-clés : Antisaccade  Neurocognition  Ppf  Ppi  Startle modification Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is associated with a number of physical anomalies and neuropsychological deficits including impairments in executive and sensorimotor function. It is estimated that 25% of children with 22q11DS will develop schizophrenia and other psychotic disorders later in life. Evidence of genetic transmission of information processing deficits in schizophrenia suggests performance in 22q11DS individuals will enhance understanding of the neurobiological and genetic substrates associated with information processing. In this report, we examine information processing in 22q11DS using measures of startle eyeblink modification and antisaccade inhibition to explore similarities with schizophrenia and associations with neurocognitive performance. METHODS: Startle modification (passive and active tasks; 120- and 480-ms pre-pulse intervals) and antisaccade inhibition were measured in 25 individuals with genetically confirmed 22q11DS and 30 healthy control subjects. RESULTS: Individuals with 22q11DS exhibited increased antisaccade error as well as some evidence (trend-level effect) of impaired sensorimotor gating during the active condition, suggesting a dysfunction in controlled attentional processing, rather than a pre-attentive dysfunction using this paradigm. CONCLUSIONS: The findings from the present study show similarities with previous studies in clinical populations associated with 22q11DS such as schizophrenia that may indicate shared dysfunction of inhibition pathways in these groups. En ligne : http://dx.doi.org/10.1186/1866-1955-6-38 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Visual perception and processing in children with 22q11.2 deletion syndrome: associations with social cognition measures of face identity and emotion recognition / K. L. MCCABE in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

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Visuospatial working memory in children and adolescents with 22q11.2 deletion syndrome; an fMRI study / R. AZUMA in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)  

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White matter microstructure in 22q11 deletion syndrome: a pilot diffusion tensor imaging and voxel-based morphometry study of children and adolescents / F. SUNDRAM in Journal of Neurodevelopmental Disorders, 2-2 (June 2010)  

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