An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome / Rayna 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 Auteurs : Rayna AZUMA, Auteur ; Quinton DEELEY, Auteur ; Linda E. CAMPBELL, Auteur ; Eileen DALY, Auteur ; Vincent GIAMPIETRO, Auteur ; Michael BRAMMER, Auteur ; Kieran C. MURPHY, Auteur ; Declan G.M. 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] / Rayna AZUMA, Auteur ; Quinton DEELEY, Auteur ; Linda E. CAMPBELL, Auteur ; Eileen DALY, Auteur ; Vincent GIAMPIETRO, Auteur ; Michael BRAMMER, Auteur ; Kieran C. MURPHY, Auteur ; Declan G.M. 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

Anatomy and aging of the amygdala and hippocampus in autism spectrum disorder: an in vivo magnetic resonance imaging study of Asperger syndrome / Clodagh M. MURPHY in Autism Research, 5-1 (February 2012)  

Public ISBD [article]  inAutism Research > 5-1 (February 2012) . - p.3-12 Titre : Anatomy and aging of the amygdala and hippocampus in autism spectrum disorder: an in vivo magnetic resonance imaging study of Asperger syndrome Type de document : texte imprimé Auteurs : Clodagh M. MURPHY, Auteur ; Quinton DEELEY, Auteur ; Eileen DALY, Auteur ; Christine ECKER, Auteur ; F.M. O'BRIEN, Auteur ; Brian HALLAHAN, Auteur ; Eva LOTH, Auteur ; F. TOAL, Auteur ; S. REED, Auteur ; S. HALES, Auteur ; Debra W. ROBERTSON, Auteur ; Michael C. CRAIG, Auteur ; Diane MULLINS, Auteur ; Gareth J. BARKER, Auteur ; T. LAVENDER, Auteur ; Pari JOHNSTON, Auteur ; Kieran C. MURPHY, Auteur ; Declan G.M. MURPHY, Auteur Année de publication : 2012 Article en page(s) : p.3-12 Langues : Anglais (eng) Mots-clés : Asperger syndrome  autism  amygdala  hippocampus  age Index. décimale : PER Périodiques Résumé : It has been proposed that people with autism spectrum disorder (ASD) have abnormal morphometry and development of the amygdala and hippocampus (AH). However, previous reports are inconsistent, perhaps because they included people of different ASD diagnoses, ages, and health. We compared, using magnetic resonance imaging, the in vivo anatomy of the AH in 32 healthy individuals with Asperger syndrome (12–47 years) and 32 healthy controls who did not differ significantly in age or IQ. We measured bulk (gray + white matter) volume of the AH using manual tracing (MEASURE). We first compared the volume of AH between individuals with Asperger syndrome and controls and then investigated age-related differences. We compared differences in anatomy before, and after, correcting for whole brain size. There was no significant between group differences in whole brain volume. However, individuals with Asperger syndrome had a significantly larger raw bulk volume of total (P<0.01), right (P<0.01), and left amygdala (P<0.05); and when corrected for overall brain size, total (P<0.05), and right amygdala (P<0.01). There was a significant group difference in aging of left amygdala; controls, but not individuals with Asperger syndrome, had a significant age-related increase in volume (r = 0.486, P<0.01, and r = 0.007, P = 0.97, z = 1.995). There were no significant group differences in volume or age-related effects in hippocampus. Individuals with Asperger syndrome have significant differences from controls in bulk volume and aging of the amygdala. En ligne : http://dx.doi.org/10.1002/aur.227 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153 [article] Anatomy and aging of the amygdala and hippocampus in autism spectrum disorder: an in vivo magnetic resonance imaging study of Asperger syndrome [texte imprimé] / Clodagh M. MURPHY, Auteur ; Quinton DEELEY, Auteur ; Eileen DALY, Auteur ; Christine ECKER, Auteur ; F.M. O'BRIEN, Auteur ; Brian HALLAHAN, Auteur ; Eva LOTH, Auteur ; F. TOAL, Auteur ; S. REED, Auteur ; S. HALES, Auteur ; Debra W. ROBERTSON, Auteur ; Michael C. CRAIG, Auteur ; Diane MULLINS, Auteur ; Gareth J. BARKER, Auteur ; T. LAVENDER, Auteur ; Pari JOHNSTON, Auteur ; Kieran C. MURPHY, Auteur ; Declan G.M. MURPHY, Auteur . - 2012 . - p.3-12. Langues : Anglais (eng) in Autism Research > 5-1 (February 2012) . - p.3-12 Mots-clés : Asperger syndrome  autism  amygdala  hippocampus  age Index. décimale : PER Périodiques Résumé : It has been proposed that people with autism spectrum disorder (ASD) have abnormal morphometry and development of the amygdala and hippocampus (AH). However, previous reports are inconsistent, perhaps because they included people of different ASD diagnoses, ages, and health. We compared, using magnetic resonance imaging, the in vivo anatomy of the AH in 32 healthy individuals with Asperger syndrome (12–47 years) and 32 healthy controls who did not differ significantly in age or IQ. We measured bulk (gray + white matter) volume of the AH using manual tracing (MEASURE). We first compared the volume of AH between individuals with Asperger syndrome and controls and then investigated age-related differences. We compared differences in anatomy before, and after, correcting for whole brain size. There was no significant between group differences in whole brain volume. However, individuals with Asperger syndrome had a significantly larger raw bulk volume of total (P<0.01), right (P<0.01), and left amygdala (P<0.05); and when corrected for overall brain size, total (P<0.05), and right amygdala (P<0.01). There was a significant group difference in aging of left amygdala; controls, but not individuals with Asperger syndrome, had a significant age-related increase in volume (r = 0.486, P<0.01, and r = 0.007, P = 0.97, z = 1.995). There were no significant group differences in volume or age-related effects in hippocampus. Individuals with Asperger syndrome have significant differences from controls in bulk volume and aging of the amygdala. En ligne : http://dx.doi.org/10.1002/aur.227 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153

Dementia in Down's syndrome: an MRI comparison with Alzheimer's disease in the general population / Diane MULLINS in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.19 Titre : Dementia in Down's syndrome: an MRI comparison with Alzheimer's disease in the general population Type de document : texte imprimé Auteurs : Diane MULLINS, Auteur ; Eileen DALY, Auteur ; Andrew SIMMONS, Auteur ; Felix BEACHER, Auteur ; Catherine M.l. FOY, Auteur ; Simon LOVESTONE, Auteur ; Brian HALLAHAN, Auteur ; Kieran C. MURPHY, Auteur ; Declan G.M. MURPHY, Auteur Article en page(s) : p.19 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Down's syndrome (DS) is the most common genetic cause of intellectual disability. People with DS are at an increased risk of Alzheimer's disease (AD) compared to the general population. Neuroimaging studies of AD have focused on medial temporal structures; however, to our knowledge, no in vivo case-control study exists comparing the anatomy of dementia in DS to people with AD in the general population. We therefore compared the in vivo brain anatomy of people with DS and dementia (DS+) to those with AD in the general population. METHOD: Using MRI in 192 adults, we compared the volume of whole brain matter, lateral ventricles, temporal lobes and hippocampus in DS subjects with and without dementia (DS+, DS-), to each other and to three non-DS groups. These included one group of individuals with AD and two groups of controls (each age-matched for their respective DS and general population AD cohorts). RESULTS: AD and DS+ subjects showed significant reductions in the volume of the whole brain, hippocampus and temporal lobes and a significant elevation in the volume of the lateral ventricle, compared to their non-demented counterparts. People with DS+ had a smaller reduction in temporal lobe volume compared to individuals with AD. CONCLUSIONS: DS+ and AD subjects have a significant reduction in volume of the same brain regions. We found preliminary evidence that DS individuals may be more sensitive to tissue loss than others and have less 'cognitive reserve'. En ligne : http://dx.doi.org/10.1186/1866-1955-5-19 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345 [article] Dementia in Down's syndrome: an MRI comparison with Alzheimer's disease in the general population [texte imprimé] / Diane MULLINS, Auteur ; Eileen DALY, Auteur ; Andrew SIMMONS, Auteur ; Felix BEACHER, Auteur ; Catherine M.l. FOY, Auteur ; Simon LOVESTONE, Auteur ; Brian HALLAHAN, Auteur ; Kieran C. MURPHY, Auteur ; Declan G.M. MURPHY, Auteur . - p.19. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.19 Index. décimale : PER Périodiques Résumé : BACKGROUND: Down's syndrome (DS) is the most common genetic cause of intellectual disability. People with DS are at an increased risk of Alzheimer's disease (AD) compared to the general population. Neuroimaging studies of AD have focused on medial temporal structures; however, to our knowledge, no in vivo case-control study exists comparing the anatomy of dementia in DS to people with AD in the general population. We therefore compared the in vivo brain anatomy of people with DS and dementia (DS+) to those with AD in the general population. METHOD: Using MRI in 192 adults, we compared the volume of whole brain matter, lateral ventricles, temporal lobes and hippocampus in DS subjects with and without dementia (DS+, DS-), to each other and to three non-DS groups. These included one group of individuals with AD and two groups of controls (each age-matched for their respective DS and general population AD cohorts). RESULTS: AD and DS+ subjects showed significant reductions in the volume of the whole brain, hippocampus and temporal lobes and a significant elevation in the volume of the lateral ventricle, compared to their non-demented counterparts. People with DS+ had a smaller reduction in temporal lobe volume compared to individuals with AD. CONCLUSIONS: DS+ and AD subjects have a significant reduction in volume of the same brain regions. We found preliminary evidence that DS individuals may be more sensitive to tissue loss than others and have less 'cognitive reserve'. En ligne : http://dx.doi.org/10.1186/1866-1955-5-19 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345

Erratum : White matter integrity in Asperger syndrome: A preliminary diffusion tensor magnetic resonance imaging study in adults / Oswald J.N. BLOEMEN in Autism Research, 4-2 (April 2011)  

Public ISBD [article]  inAutism Research > 4-2 (April 2011) . - p.160 Titre : Erratum : White matter integrity in Asperger syndrome: A preliminary diffusion tensor magnetic resonance imaging study in adults Type de document : texte imprimé Auteurs : Oswald J.N. BLOEMEN, Auteur ; Quinton DEELEY, Auteur ; Fred SUNDRAM, Auteur ; Eileen DALY, Auteur ; Gareth J. BARKER, Auteur ; Derek K. JONES, Auteur ; Therese A.M.J. VAN AMELSVOORT, Auteur ; Nicole SCHMITZ, Auteur ; Dene ROBERTSON, Auteur ; Kieran C. MURPHY, Auteur ; Declan G.M. MURPHY, Auteur Année de publication : 2011 Article en page(s) : p.160 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.189 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121 [article] Erratum : White matter integrity in Asperger syndrome: A preliminary diffusion tensor magnetic resonance imaging study in adults [texte imprimé] / Oswald J.N. BLOEMEN, Auteur ; Quinton DEELEY, Auteur ; Fred SUNDRAM, Auteur ; Eileen DALY, Auteur ; Gareth J. BARKER, Auteur ; Derek K. JONES, Auteur ; Therese A.M.J. VAN AMELSVOORT, Auteur ; Nicole SCHMITZ, Auteur ; Dene ROBERTSON, Auteur ; Kieran C. MURPHY, Auteur ; Declan G.M. MURPHY, Auteur . - 2011 . - p.160. Langues : Anglais (eng) in Autism Research > 4-2 (April 2011) . - p.160 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.189 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121

Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers / Brian P. HALLAHAN in Journal of Neurodevelopmental Disorders, 4-1 (December 2012)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 4-1 (December 2012) . - p.23 Titre : Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers Type de document : texte imprimé Auteurs : Brian P. HALLAHAN, Auteur ; Eileen DALY, Auteur ; Andrew SIMMONS, Auteur ; Caroline J. MOORE, Auteur ; Kieran C. MURPHY, Auteur ; Declan G.M. MURPHY, Auteur Article en page(s) : p.23 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : PURPOSE: There is increasing evidence that neurodevelopmental differences in people with Fragile X syndrome (FraX) may be explained by differences in glutamatergic metabolism. Premutation carriers of FraX were originally considered to be unaffected although several recent reports demonstrate neuroanatomical, cognitive, and emotional differences from controls. However there are few studies on brain metabolism in premutation carriers of FraX. METHODS: We used proton magnetic resonance spectroscopy to compare neuronal integrity of a number of brain metabolites including N-Acetyl Aspartate, Creatine + Phosphocreatinine, Choline, myoInositol, and Glutamate containing substances (Glx) in 17 male premutation carriers of FraX and 16 male healthy control individuals. RESULTS: There was no significant between-group difference in the concentration of any measured brain metabolites. However there was a differential increase in N-acetyl aspartate with aging in premutation FraX individuals compared to controls. CONCLUSIONS: This is the first 1 H-MRS study to examine premutation FraX individuals. Although we demonstrated no difference in the concentration of any of the metabolites examined between the groups, this may be due to the large age ranges included in the two samples. The differential increase in NAA levels with aging may reflect an abnormal synaptic pruning process. En ligne : http://dx.doi.org/10.1186/1866-1955-4-23 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344 [article] Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers [texte imprimé] / Brian P. HALLAHAN, Auteur ; Eileen DALY, Auteur ; Andrew SIMMONS, Auteur ; Caroline J. MOORE, Auteur ; Kieran C. MURPHY, Auteur ; Declan G.M. MURPHY, Auteur . - p.23. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 4-1 (December 2012) . - p.23 Index. décimale : PER Périodiques Résumé : PURPOSE: There is increasing evidence that neurodevelopmental differences in people with Fragile X syndrome (FraX) may be explained by differences in glutamatergic metabolism. Premutation carriers of FraX were originally considered to be unaffected although several recent reports demonstrate neuroanatomical, cognitive, and emotional differences from controls. However there are few studies on brain metabolism in premutation carriers of FraX. METHODS: We used proton magnetic resonance spectroscopy to compare neuronal integrity of a number of brain metabolites including N-Acetyl Aspartate, Creatine + Phosphocreatinine, Choline, myoInositol, and Glutamate containing substances (Glx) in 17 male premutation carriers of FraX and 16 male healthy control individuals. RESULTS: There was no significant between-group difference in the concentration of any measured brain metabolites. However there was a differential increase in N-acetyl aspartate with aging in premutation FraX individuals compared to controls. CONCLUSIONS: This is the first 1 H-MRS study to examine premutation FraX individuals. Although we demonstrated no difference in the concentration of any of the metabolites examined between the groups, this may be due to the large age ranges included in the two samples. The differential increase in NAA levels with aging may reflect an abnormal synaptic pruning process. En ligne : http://dx.doi.org/10.1186/1866-1955-4-23 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344

Hippocampal glutamate-glutamine (Glx) in adults with Down syndrome: a preliminary study using in vivo proton magnetic resonance spectroscopy ((1)H MRS) / Giles MY TAN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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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)  

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Visual perception and processing in children with 22q11.2 deletion syndrome: associations with social cognition measures of face identity and emotion recognition / Kathryn 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 / Rayna AZUMA in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)  

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White matter integrity in Asperger syndrome: a preliminary diffusion tensor magnetic resonance imaging study in adults / Oswald J.N. BLOEMEN in Autism Research, 3-5 (October 2010)  

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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 / Frederick SUNDRAM in Journal of Neurodevelopmental Disorders, 2-2 (June 2010)  

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