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

Dementia in Down's syndrome: an MRI comparison with Alzheimer's disease in the general population / D. 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 et/ou numérique Auteurs : D. MULLINS, Auteur ; Eileen DALY, Auteur ; A. SIMMONS, Auteur ; F. BEACHER, Auteur ; C. M. FOY, Auteur ; S. LOVESTONE, Auteur ; B. HALLAHAN, Auteur ; K. C. MURPHY, Auteur ; D. G. 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 et/ou numérique] / D. MULLINS, Auteur ; Eileen DALY, Auteur ; A. SIMMONS, Auteur ; F. BEACHER, Auteur ; C. M. FOY, Auteur ; S. LOVESTONE, Auteur ; B. HALLAHAN, Auteur ; K. C. MURPHY, Auteur ; D. G. 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

Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder / J. TILLMANN in Journal of Autism and Developmental Disorders, 48-7 (July 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2490-2505 Titre : Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : J. TILLMANN, Auteur ; K. ASHWOOD, Auteur ; M. ABSOUD, Auteur ; Sven BÖLTE, Auteur ; Frédérique BONNET-BRILHAULT, Auteur ; Jan K. BUITELAAR, Auteur ; Sara CALDERONI, Auteur ; R. CALVO, Auteur ; Ricardo CANAL-BEDIA, Auteur ; Roberto CANITANO, Auteur ; Annelies A. DE BILDT, Auteur ; Marie GOMOT, Auteur ; P. J. HOEKSTRA, Auteur ; A. KAALE, Auteur ; H. MCCONACHIE, Auteur ; D. G. MURPHY, Auteur ; A. NARZISI, Auteur ; I. OOSTERLING, Auteur ; M. PEJOVIC-MILOVANCEVIC, Auteur ; A. M. PERSICO, Auteur ; O. PUIG, Auteur ; H. ROEYERS, Auteur ; Nanda N. ROMMELSE, Auteur ; R. SACCO, Auteur ; V. SCANDURRA, Auteur ; A. C. STANFIELD, Auteur ; E. ZANDER, Auteur ; Tony CHARMAN, Auteur Article en page(s) : p.2490-2505 Langues : Anglais (eng) Mots-clés : Age  Autism Spectrum Disorder  Phenotype  Sex  Symptom severity Index. décimale : PER Périodiques Résumé : Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and repetitive behaviours were lower in females than males, alongside comparable levels of social interaction and communication difficulties in females and males. Current ADI-R and ADOS scores showed no sex differences for ASD severity. There were lower socio-communicative symptoms in older compared to younger individuals. This large European ASD sample adds to the literature on sex and age variations of ASD symptomatology. En ligne : http://dx.doi.org/10.1007/s10803-018-3510-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367 [article] Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / J. TILLMANN, Auteur ; K. ASHWOOD, Auteur ; M. ABSOUD, Auteur ; Sven BÖLTE, Auteur ; Frédérique BONNET-BRILHAULT, Auteur ; Jan K. BUITELAAR, Auteur ; Sara CALDERONI, Auteur ; R. CALVO, Auteur ; Ricardo CANAL-BEDIA, Auteur ; Roberto CANITANO, Auteur ; Annelies A. DE BILDT, Auteur ; Marie GOMOT, Auteur ; P. J. HOEKSTRA, Auteur ; A. KAALE, Auteur ; H. MCCONACHIE, Auteur ; D. G. MURPHY, Auteur ; A. NARZISI, Auteur ; I. OOSTERLING, Auteur ; M. PEJOVIC-MILOVANCEVIC, Auteur ; A. M. PERSICO, Auteur ; O. PUIG, Auteur ; H. ROEYERS, Auteur ; Nanda N. ROMMELSE, Auteur ; R. SACCO, Auteur ; V. SCANDURRA, Auteur ; A. C. STANFIELD, Auteur ; E. ZANDER, Auteur ; Tony CHARMAN, Auteur . - p.2490-2505. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2490-2505 Mots-clés : Age  Autism Spectrum Disorder  Phenotype  Sex  Symptom severity Index. décimale : PER Périodiques Résumé : Research on sex-related differences in Autism Spectrum Disorder (ASD) has been impeded by small samples. We pooled 28 datasets from 18 sites across nine European countries to examine sex differences in the ASD phenotype on the ADI-R (376 females, 1763 males) and ADOS (233 females, 1187 males). On the ADI-R, early childhood restricted and repetitive behaviours were lower in females than males, alongside comparable levels of social interaction and communication difficulties in females and males. Current ADI-R and ADOS scores showed no sex differences for ASD severity. There were lower socio-communicative symptoms in older compared to younger individuals. This large European ASD sample adds to the literature on sex and age variations of ASD symptomatology. En ligne : http://dx.doi.org/10.1007/s10803-018-3510-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367

A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder / A. RAZNAHAN in Journal of Neurodevelopmental Disorders, 1-3 (September 2009)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 1-3 (September 2009) . - p.215-23 Titre : A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : A. RAZNAHAN, Auteur ; R. TORO, Auteur ; P. PROITSI, Auteur ; J. POWELL, Auteur ; T. PAUS, Auteur ; Patrick BOLTON, Auteur ; D. G. MURPHY, Auteur Article en page(s) : p.215-23 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) is associated with both (i) post-mortem and neuroimaging evidence of abnormal cortical development, and (ii) altered signalling in Brain Derived Neurotrophic Factor (BDNF) pathways - which regulate neuroproliferative and neuroplastic processes. In healthy controls genotype at a single nucleotide polymorphism that alters BDNF signalling (Val66met) has been related to regional cortical volume. It is not known however if this influence on brain development is intact in ASD. Therefore we compared the relationship between genotype and cortical anatomy (as measured using in vivo Magnetic Resonance Imaging) in 41 people with ASD and 30 healthy controls. We measured cortical volume, and its two sole determinants - cortical thickness and surface area - which reflect differing neurodevelopmental processes. We found "Group-by-Genotype" interactions for cortical volume in medial (caudal anterior cingulate, posterior cingulate) and lateral (rostral middle, lateral orbitofrontal, pars orbitalis and pars triangularis) frontal cortices. Furthermore, within (only) these regions "Group-by-Genotype" interactions were also found for surface area. No effects were found for cortical thickness in any region. Our preliminary findings suggest that people with ASD have differences from controls in the relationship between BDNF val66met genotype and regional (especially frontal) cortical volume and surface area, but not cortical thickness. Therefore alterations in the relationship between BDNF val66met genotype and surface area in ASD may drive the findings for volume. If correct, this suggests ASD is associated with a distorted relationship between BDNF val66met genotype and the determinants of regional cortical surface area - gyrification and/or sulcal positioning. En ligne : http://dx.doi.org/10.1007/s11689-009-9012-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341 [article] A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder [Texte imprimé et/ou numérique] / A. RAZNAHAN, Auteur ; R. TORO, Auteur ; P. PROITSI, Auteur ; J. POWELL, Auteur ; T. PAUS, Auteur ; Patrick BOLTON, Auteur ; D. G. MURPHY, Auteur . - p.215-23. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 1-3 (September 2009) . - p.215-23 Index. décimale : PER Périodiques Résumé : Autism Spectrum Disorder (ASD) is associated with both (i) post-mortem and neuroimaging evidence of abnormal cortical development, and (ii) altered signalling in Brain Derived Neurotrophic Factor (BDNF) pathways - which regulate neuroproliferative and neuroplastic processes. In healthy controls genotype at a single nucleotide polymorphism that alters BDNF signalling (Val66met) has been related to regional cortical volume. It is not known however if this influence on brain development is intact in ASD. Therefore we compared the relationship between genotype and cortical anatomy (as measured using in vivo Magnetic Resonance Imaging) in 41 people with ASD and 30 healthy controls. We measured cortical volume, and its two sole determinants - cortical thickness and surface area - which reflect differing neurodevelopmental processes. We found "Group-by-Genotype" interactions for cortical volume in medial (caudal anterior cingulate, posterior cingulate) and lateral (rostral middle, lateral orbitofrontal, pars orbitalis and pars triangularis) frontal cortices. Furthermore, within (only) these regions "Group-by-Genotype" interactions were also found for surface area. No effects were found for cortical thickness in any region. Our preliminary findings suggest that people with ASD have differences from controls in the relationship between BDNF val66met genotype and regional (especially frontal) cortical volume and surface area, but not cortical thickness. Therefore alterations in the relationship between BDNF val66met genotype and surface area in ASD may drive the findings for volume. If correct, this suggests ASD is associated with a distorted relationship between BDNF val66met genotype and the determinants of regional cortical surface area - gyrification and/or sulcal positioning. En ligne : http://dx.doi.org/10.1007/s11689-009-9012-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341

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

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.42 Titre : Hippocampal glutamate-glutamine (Glx) in adults with Down syndrome: a preliminary study using in vivo proton magnetic resonance spectroscopy ((1)H MRS) Type de document : Texte imprimé et/ou numérique Auteurs : G. M. TAN, Auteur ; F. BEACHER, Auteur ; Eileen DALY, Auteur ; J. HORDER, Auteur ; V. PRASHER, Auteur ; M. L. HANNEY, Auteur ; R. MORRIS, Auteur ; S. LOVESTONE, Auteur ; K. C. MURPHY, Auteur ; A. SIMMONS, Auteur ; D. G. MURPHY, Auteur Article en page(s) : p.42 Langues : Anglais (eng) Mots-clés : 1h mrs  Alzheimer's disease  Dementia  Down syndrome  Glutamate-glutamine (Glx)  Hippocampus  Intellectual disability  Magnetic resonance spectroscopy Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS), or trisomy 21, is one of the most common autosomal mutations. People with DS have intellectual disability (ID) and are at significantly increased risk of developing Alzheimer's disease (AD). The biological associates of both ID and AD in DS are poorly understood, but glutamate has been proposed to play a key role. In non-DS populations, glutamate is essential to learning and memory and glutamate-mediated excitotoxicity has been implicated in AD. However, the concentration of hippocampal glutamate in DS individuals with and without dementia has not previously been directly investigated. Proton magnetic resonance spectroscopy ((1)H MRS) can be used to measure in vivo the concentrations of glutamate-glutamine (Glx). The objective of the current study was to examine the hippocampal Glx concentration in non-demented DS (DS-) and demented DS (DS+) individuals. METHODS: We examined 46 adults with DS (35 without dementia and 11 with dementia) and 39 healthy controls (HC) using (1)H MRS and measured their hippocampal Glx concentrations. RESULTS: There was no significant difference in the hippocampal Glx concentration between DS+ and DS-, or between either of the DS groups and the healthy controls. Also, within DS, there was no significant correlation between hippocampal Glx concentration and measures of overall cognitive ability. Last, a sample size calculation based on the effect sizes from this study showed that it would have required 6,257 participants to provide 80% power to detect a significant difference between the groups which would indicate that there is a very low likelihood of a type 2 error accounting for the findings in this study. CONCLUSIONS: Individuals with DS do not have clinically detectable differences in hippocampal Glx concentration. Other pathophysiological processes likely account for ID and AD in people with DS. En ligne : http://dx.doi.org/10.1186/1866-1955-6-42 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Hippocampal glutamate-glutamine (Glx) in adults with Down syndrome: a preliminary study using in vivo proton magnetic resonance spectroscopy ((1)H MRS) [Texte imprimé et/ou numérique] / G. M. TAN, Auteur ; F. BEACHER, Auteur ; Eileen DALY, Auteur ; J. HORDER, Auteur ; V. PRASHER, Auteur ; M. L. HANNEY, Auteur ; R. MORRIS, Auteur ; S. LOVESTONE, Auteur ; K. C. MURPHY, Auteur ; A. SIMMONS, Auteur ; D. G. MURPHY, Auteur . - p.42. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.42 Mots-clés : 1h mrs  Alzheimer's disease  Dementia  Down syndrome  Glutamate-glutamine (Glx)  Hippocampus  Intellectual disability  Magnetic resonance spectroscopy Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS), or trisomy 21, is one of the most common autosomal mutations. People with DS have intellectual disability (ID) and are at significantly increased risk of developing Alzheimer's disease (AD). The biological associates of both ID and AD in DS are poorly understood, but glutamate has been proposed to play a key role. In non-DS populations, glutamate is essential to learning and memory and glutamate-mediated excitotoxicity has been implicated in AD. However, the concentration of hippocampal glutamate in DS individuals with and without dementia has not previously been directly investigated. Proton magnetic resonance spectroscopy ((1)H MRS) can be used to measure in vivo the concentrations of glutamate-glutamine (Glx). The objective of the current study was to examine the hippocampal Glx concentration in non-demented DS (DS-) and demented DS (DS+) individuals. METHODS: We examined 46 adults with DS (35 without dementia and 11 with dementia) and 39 healthy controls (HC) using (1)H MRS and measured their hippocampal Glx concentrations. RESULTS: There was no significant difference in the hippocampal Glx concentration between DS+ and DS-, or between either of the DS groups and the healthy controls. Also, within DS, there was no significant correlation between hippocampal Glx concentration and measures of overall cognitive ability. Last, a sample size calculation based on the effect sizes from this study showed that it would have required 6,257 participants to provide 80% power to detect a significant difference between the groups which would indicate that there is a very low likelihood of a type 2 error accounting for the findings in this study. CONCLUSIONS: Individuals with DS do not have clinically detectable differences in hippocampal Glx concentration. Other pathophysiological processes likely account for ID and AD in people with DS. En ligne : http://dx.doi.org/10.1186/1866-1955-6-42 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Investigating the factors underlying adaptive functioning in autism in the EU-AIMS Longitudinal European Autism Project / J. TILLMANN in Autism Research, 12-4 (April 2019)  

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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 / 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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