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

Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents with Autism Spectrum Disorder: Design of Two Phase III Studies (SIGN Trials) / V. CRUTEL in Journal of Autism and Developmental Disorders, 51-8 (August 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-8 (August 2021) . - p.2959-2972 Titre : Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents with Autism Spectrum Disorder: Design of Two Phase III Studies (SIGN Trials) Type de document : Texte imprimé et/ou numérique Auteurs : V. CRUTEL, Auteur ; E. LAMBERT, Auteur ; P. F. PENELAUD, Auteur ; C. ALBARRÁN SEVERO, Auteur ; J. FUENTES, Auteur ; A. ROSIER, Auteur ; A. HERVAS, Auteur ; S. MARRET, Auteur ; G. OLIVEIRA, Auteur ; Mara PARELLADA, Auteur ; S. KYAGA, Auteur ; S. GOUTTEFANGEAS, Auteur ; M. BERTRAND, Auteur ; D. RAVEL, Auteur ; B. FALISSARD, Auteur Article en page(s) : p.2959-2972 Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder/drug therapy  Bumetanide/administration & dosage/therapeutic use  Child  Child, Preschool  Double-Blind Method  Humans  Male  Research Design  Social Behavior  Treatment Outcome  Autism spectrum disorder  Bumetanide  Pediatrics  Randomized controlled trial  for Actelion, Allergan, Almirall, Astellas, AstraZeneca, Bayer, Biotronik, BMS,  Boehringer Ingelheim, Daiichi- Sankyo, Eli Lilly, Genzyme, Gilead, Grunenthal, GSK,  HRA, Janssen, Lundbeck, MSD, Novartis, Otsuka, Pierre Fabre, Roche, Sanofi, Servier,  Stallergene, UCB, ViiV. JF has received research support from Servier and  AIMS-2-Trials project ID 777394. DR is an employee of Neurochlore. GO, SM, AR, AH,  and MP report no conflict of interest. Index. décimale : PER Périodiques Résumé : There are currently no approved pharmacological treatments to improve social reciprocity and limit repetitive and rigid behaviors in autism spectrum disorder (ASD). We describe the design of two Phase III studies evaluating the efficacy/safety of bumetanide oral liquid formulation in ASD. These are international, multicenter, randomized, double-blind, placebo-controlled studies in children and adolescents with ASD aged 7 to 17 years (n?=?200; study 1), or younger children with ASD aged 2 to 6 years (n?=?200; study 2). The primary endpoint of each is change in Childhood Autism Rating Scale 2 total raw score after 6 months. These studies could contribute to the first pharmacological treatment to improve social reciprocity and limit repetitive and rigid behaviors in children and adolescents with ASD. En ligne : http://dx.doi.org/10.1007/s10803-020-04709-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 [article] Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents with Autism Spectrum Disorder: Design of Two Phase III Studies (SIGN Trials) [Texte imprimé et/ou numérique] / V. CRUTEL, Auteur ; E. LAMBERT, Auteur ; P. F. PENELAUD, Auteur ; C. ALBARRÁN SEVERO, Auteur ; J. FUENTES, Auteur ; A. ROSIER, Auteur ; A. HERVAS, Auteur ; S. MARRET, Auteur ; G. OLIVEIRA, Auteur ; Mara PARELLADA, Auteur ; S. KYAGA, Auteur ; S. GOUTTEFANGEAS, Auteur ; M. BERTRAND, Auteur ; D. RAVEL, Auteur ; B. FALISSARD, Auteur . - p.2959-2972. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-8 (August 2021) . - p.2959-2972 Mots-clés : Adolescent  Autism Spectrum Disorder/drug therapy  Bumetanide/administration & dosage/therapeutic use  Child  Child, Preschool  Double-Blind Method  Humans  Male  Research Design  Social Behavior  Treatment Outcome  Autism spectrum disorder  Bumetanide  Pediatrics  Randomized controlled trial  for Actelion, Allergan, Almirall, Astellas, AstraZeneca, Bayer, Biotronik, BMS,  Boehringer Ingelheim, Daiichi- Sankyo, Eli Lilly, Genzyme, Gilead, Grunenthal, GSK,  HRA, Janssen, Lundbeck, MSD, Novartis, Otsuka, Pierre Fabre, Roche, Sanofi, Servier,  Stallergene, UCB, ViiV. JF has received research support from Servier and  AIMS-2-Trials project ID 777394. DR is an employee of Neurochlore. GO, SM, AR, AH,  and MP report no conflict of interest. Index. décimale : PER Périodiques Résumé : There are currently no approved pharmacological treatments to improve social reciprocity and limit repetitive and rigid behaviors in autism spectrum disorder (ASD). We describe the design of two Phase III studies evaluating the efficacy/safety of bumetanide oral liquid formulation in ASD. These are international, multicenter, randomized, double-blind, placebo-controlled studies in children and adolescents with ASD aged 7 to 17 years (n?=?200; study 1), or younger children with ASD aged 2 to 6 years (n?=?200; study 2). The primary endpoint of each is change in Childhood Autism Rating Scale 2 total raw score after 6 months. These studies could contribute to the first pharmacological treatment to improve social reciprocity and limit repetitive and rigid behaviors in children and adolescents with ASD. En ligne : http://dx.doi.org/10.1007/s10803-020-04709-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453

Correction to: Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents with Autism Spectrum Disorder: Design of Two Phase III Studies (SIGN Trials) / V. CRUTEL in Journal of Autism and Developmental Disorders, 51-8 (August 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-8 (August 2021) . - p.2973 Titre : Correction to: Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents with Autism Spectrum Disorder: Design of Two Phase III Studies (SIGN Trials) Type de document : Texte imprimé et/ou numérique Auteurs : V. CRUTEL, Auteur ; E. LAMBERT, Auteur ; P. F. PENELAUD, Auteur ; C. ALBARRÁN SEVERO, Auteur ; J. FUENTES, Auteur ; A. ROSIER, Auteur ; A. HERVAS, Auteur ; S. MARRET, Auteur ; G. OLIVEIRA, Auteur ; Mara PARELLADA, Auteur ; S. KYAGA, Auteur ; S. GOUTTEFANGEAS, Auteur ; M. BERTRAND, Auteur ; D. RAVEL, Auteur ; B. FALISSARD, Auteur Article en page(s) : p.2973 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-020-04822-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 [article] Correction to: Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents with Autism Spectrum Disorder: Design of Two Phase III Studies (SIGN Trials) [Texte imprimé et/ou numérique] / V. CRUTEL, Auteur ; E. LAMBERT, Auteur ; P. F. PENELAUD, Auteur ; C. ALBARRÁN SEVERO, Auteur ; J. FUENTES, Auteur ; A. ROSIER, Auteur ; A. HERVAS, Auteur ; S. MARRET, Auteur ; G. OLIVEIRA, Auteur ; Mara PARELLADA, Auteur ; S. KYAGA, Auteur ; S. GOUTTEFANGEAS, Auteur ; M. BERTRAND, Auteur ; D. RAVEL, Auteur ; B. FALISSARD, Auteur . - p.2973. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-8 (August 2021) . - p.2973 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-020-04822-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453

Maternal Interactive Behaviours in Parenting Children with Williams Syndrome and Autism Spectrum Disorder: Relations with Emotional/Behavioural Problems / J. BAPTISTA in Journal of Autism and Developmental Disorders, 49-1 (January 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.216-226 Titre : Maternal Interactive Behaviours in Parenting Children with Williams Syndrome and Autism Spectrum Disorder: Relations with Emotional/Behavioural Problems Type de document : Texte imprimé et/ou numérique Auteurs : J. BAPTISTA, Auteur ; A. SAMPAIO, Auteur ; I. FACHADA, Auteur ; A. OSORIO, Auteur ; A. R. MESQUITA, Auteur ; E. GARAYZABAL, Auteur ; F. DUQUE, Auteur ; G. OLIVEIRA, Auteur ; I. SOARES, Auteur Article en page(s) : p.216-226 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Cbcl 1(1/2)-5  Maternal responsiveness  Neurodevelopmental disorders  Williams syndrome Index. décimale : PER Périodiques Résumé : This study compared maternal responsiveness to children with two neurodevelopmental disorders sharing different but, in some cases, overlapping social phenotypes-Williams syndrome (WS) and autism spectrum disorder (ASD)-and explored the relations between maternal responsiveness and child emotional/behavioural problems (EBP). The sample included 16 pre-schoolers with WS and 43 with ASD, and their mothers. Responsiveness was assessed during a mother-child interaction task. Mothers completed the CBCL 1(1/2)-5, providing a measure of EBP. No significant differences emerged between groups, and most dyads were characterized by less responsive behaviours. Maternal responsiveness proved related to child developmental age, but not with EBP. These results provide further insight into the rearing environment of children with neurodevelopmental disorders, highlighting the need for early relationship-based interventions. En ligne : http://dx.doi.org/10.1007/s10803-018-3715-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=377 [article] Maternal Interactive Behaviours in Parenting Children with Williams Syndrome and Autism Spectrum Disorder: Relations with Emotional/Behavioural Problems [Texte imprimé et/ou numérique] / J. BAPTISTA, Auteur ; A. SAMPAIO, Auteur ; I. FACHADA, Auteur ; A. OSORIO, Auteur ; A. R. MESQUITA, Auteur ; E. GARAYZABAL, Auteur ; F. DUQUE, Auteur ; G. OLIVEIRA, Auteur ; I. SOARES, Auteur . - p.216-226. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.216-226 Mots-clés : Autism spectrum disorder  Cbcl 1(1/2)-5  Maternal responsiveness  Neurodevelopmental disorders  Williams syndrome Index. décimale : PER Périodiques Résumé : This study compared maternal responsiveness to children with two neurodevelopmental disorders sharing different but, in some cases, overlapping social phenotypes-Williams syndrome (WS) and autism spectrum disorder (ASD)-and explored the relations between maternal responsiveness and child emotional/behavioural problems (EBP). The sample included 16 pre-schoolers with WS and 43 with ASD, and their mothers. Responsiveness was assessed during a mother-child interaction task. Mothers completed the CBCL 1(1/2)-5, providing a measure of EBP. No significant differences emerged between groups, and most dyads were characterized by less responsive behaviours. Maternal responsiveness proved related to child developmental age, but not with EBP. These results provide further insight into the rearing environment of children with neurodevelopmental disorders, highlighting the need for early relationship-based interventions. En ligne : http://dx.doi.org/10.1007/s10803-018-3715-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=377

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)  

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