Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology / F. CORREIA in Journal of Autism and Developmental Disorders, 45-3 (March 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-3 (March 2015) . - p.888-892 Titre : Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology Type de document : Texte imprimé et/ou numérique Auteurs : F. CORREIA, Auteur ; C. CAFE, Auteur ; J. ALMEIDA, Auteur ; S. MOUGA, Auteur ; G. OLIVEIRA, Auteur Article en page(s) : p.888-892 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Fragile X syndrome  FRAXE  FMR2  Intellectual disability  Compulsive behavior problems Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the FMR 2 gene. This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level. En ligne : http://dx.doi.org/10.1007/s10803-014-2185-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258 [article] Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology [Texte imprimé et/ou numérique] / F. CORREIA, Auteur ; C. CAFE, Auteur ; J. ALMEIDA, Auteur ; S. MOUGA, Auteur ; G. OLIVEIRA, Auteur . - p.888-892. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-3 (March 2015) . - p.888-892 Mots-clés : Autism spectrum disorder  Fragile X syndrome  FRAXE  FMR2  Intellectual disability  Compulsive behavior problems Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the FMR 2 gene. This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level. En ligne : http://dx.doi.org/10.1007/s10803-014-2185-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258

Medial Frontal Lobe Neurochemistry in Autism Spectrum Disorder is Marked by Reduced N-Acetylaspartate and Unchanged Gamma-Aminobutyric Acid and Glutamate + Glutamine Levels / A. CARVALHO PEREIRA in Journal of Autism and Developmental Disorders, 48-5 (May 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1467-1482 Titre : Medial Frontal Lobe Neurochemistry in Autism Spectrum Disorder is Marked by Reduced N-Acetylaspartate and Unchanged Gamma-Aminobutyric Acid and Glutamate + Glutamine Levels Type de document : Texte imprimé et/ou numérique Auteurs : A. CARVALHO PEREIRA, Auteur ; I. R. VIOLANTE, Auteur ; S. MOUGA, Auteur ; G. OLIVEIRA, Auteur ; Miguel CASTELO-BRANCO, Auteur Article en page(s) : p.1467-1482 Langues : Anglais (eng) Mots-clés : Autism diagnostic interview-revised  Autism spectrum disorder  Creatine  Gamma-aminobutyric acid  Glutamate + glutamine  N-acetylaspartate Index. décimale : PER Périodiques Résumé : The nature of neurochemical changes in autism spectrum disorder (ASD) remains controversial. We compared medial prefrontal cortex (mPFC) neurochemistry of twenty high-functioning children and adolescents with ASD without associated comorbidities and fourteen controls. We observed reduced total N-acetylaspartate (tNAA) and total creatine, increased Glx/tNAA but unchanged glutamate + glutamine (Glx) and unchanged absolute or relative gamma-aminobutyric acid (GABA+) in the ASD group. Importantly, both smaller absolute and relative GABA+ levels were associated with worse communication skills and developmental delay scores assessed by the autism diagnostic interview-revised (ADI-R). We conclude that tNAA is reduced in the mPFC in ASD and that glutamatergic metabolism may be altered due to unbalanced Glx/tNAA. Moreover, GABA+ is related to autistic symptoms assessed by the ADI-R. En ligne : http://dx.doi.org/10.1007/s10803-017-3406-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355 [article] Medial Frontal Lobe Neurochemistry in Autism Spectrum Disorder is Marked by Reduced N-Acetylaspartate and Unchanged Gamma-Aminobutyric Acid and Glutamate + Glutamine Levels [Texte imprimé et/ou numérique] / A. CARVALHO PEREIRA, Auteur ; I. R. VIOLANTE, Auteur ; S. MOUGA, Auteur ; G. OLIVEIRA, Auteur ; Miguel CASTELO-BRANCO, Auteur . - p.1467-1482. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1467-1482 Mots-clés : Autism diagnostic interview-revised  Autism spectrum disorder  Creatine  Gamma-aminobutyric acid  Glutamate + glutamine  N-acetylaspartate Index. décimale : PER Périodiques Résumé : The nature of neurochemical changes in autism spectrum disorder (ASD) remains controversial. We compared medial prefrontal cortex (mPFC) neurochemistry of twenty high-functioning children and adolescents with ASD without associated comorbidities and fourteen controls. We observed reduced total N-acetylaspartate (tNAA) and total creatine, increased Glx/tNAA but unchanged glutamate + glutamine (Glx) and unchanged absolute or relative gamma-aminobutyric acid (GABA+) in the ASD group. Importantly, both smaller absolute and relative GABA+ levels were associated with worse communication skills and developmental delay scores assessed by the autism diagnostic interview-revised (ADI-R). We conclude that tNAA is reduced in the mPFC in ASD and that glutamatergic metabolism may be altered due to unbalanced Glx/tNAA. Moreover, GABA+ is related to autistic symptoms assessed by the ADI-R. En ligne : http://dx.doi.org/10.1007/s10803-017-3406-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355

Training the social brain: Clinical and neural effects of an 8-week real-time functional magnetic resonance imaging neurofeedback Phase IIa Clinical Trial in Autism / B. DIREITO in Autism, 25-6 (August 2021)  

Public ISBD [article]  inAutism > 25-6 (August 2021) . - p.1746-1760 Titre : Training the social brain: Clinical and neural effects of an 8-week real-time functional magnetic resonance imaging neurofeedback Phase IIa Clinical Trial in Autism Type de document : Texte imprimé et/ou numérique Auteurs : B. DIREITO, Auteur ; S. MOUGA, Auteur ; A. SAYAL, Auteur ; M. SIMÕES, Auteur ; H. QUENTAL, Auteur ; I. BERNARDINO, Auteur ; R. PLAYLE, Auteur ; R. MCNAMARA, Auteur ; D. E. LINDEN, Auteur ; G. OLIVEIRA, Auteur ; Miguel CASTELO-BRANCO, Auteur Article en page(s) : p.1746-1760 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnostic imaging/therapy  Autistic Disorder/diagnostic imaging/therapy  Brain/diagnostic imaging  Humans  Magnetic Resonance Imaging  Neurofeedback  autism spectrum disorder  neurorehabilitation  posterior superior temporal sulcus  real-time functional magnetic resonance imaging  social cognition Index. décimale : PER Périodiques Résumé : Neurofeedback is an emerging therapeutic approach in neuropsychiatric disorders. Its potential application in autism spectrum disorder remains to be tested. Here, we demonstrate the feasibility of real-time functional magnetic resonance imaging volitional neurofeedback in targeting social brain regions in autism spectrum disorder. In this clinical trial, autism spectrum disorder patients were enrolled in a program with five training sessions of neurofeedback. Participants were able to control their own brain activity in this social brain region, with positive clinical and neural effects. Larger, controlled, and blinded clinical studies will be required to confirm the benefits. En ligne : http://dx.doi.org/10.1177/13623613211002052 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=451 [article] Training the social brain: Clinical and neural effects of an 8-week real-time functional magnetic resonance imaging neurofeedback Phase IIa Clinical Trial in Autism [Texte imprimé et/ou numérique] / B. DIREITO, Auteur ; S. MOUGA, Auteur ; A. SAYAL, Auteur ; M. SIMÕES, Auteur ; H. QUENTAL, Auteur ; I. BERNARDINO, Auteur ; R. PLAYLE, Auteur ; R. MCNAMARA, Auteur ; D. E. LINDEN, Auteur ; G. OLIVEIRA, Auteur ; Miguel CASTELO-BRANCO, Auteur . - p.1746-1760. Langues : Anglais (eng) in Autism > 25-6 (August 2021) . - p.1746-1760 Mots-clés : Autism Spectrum Disorder/diagnostic imaging/therapy  Autistic Disorder/diagnostic imaging/therapy  Brain/diagnostic imaging  Humans  Magnetic Resonance Imaging  Neurofeedback  autism spectrum disorder  neurorehabilitation  posterior superior temporal sulcus  real-time functional magnetic resonance imaging  social cognition Index. décimale : PER Périodiques Résumé : Neurofeedback is an emerging therapeutic approach in neuropsychiatric disorders. Its potential application in autism spectrum disorder remains to be tested. Here, we demonstrate the feasibility of real-time functional magnetic resonance imaging volitional neurofeedback in targeting social brain regions in autism spectrum disorder. In this clinical trial, autism spectrum disorder patients were enrolled in a program with five training sessions of neurofeedback. Participants were able to control their own brain activity in this social brain region, with positive clinical and neural effects. Larger, controlled, and blinded clinical studies will be required to confirm the benefits. En ligne : http://dx.doi.org/10.1177/13623613211002052 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=451

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