Adaptive Profiles in Autism and Other Neurodevelopmental Disorders / Susana MOUGA in Journal of Autism and Developmental Disorders, 45-4 (April 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-4 (April 2015) . - p.1001-1012 Titre : Adaptive Profiles in Autism and Other Neurodevelopmental Disorders Type de document : texte imprimé Auteurs : Susana MOUGA, Auteur ; Joana ALMEIDA, Auteur ; Cátia CAFÉ, Auteur ; Frederico DUQUE, Auteur ; Guiomar OLIVEIRA, Auteur Article en page(s) : p.1001-1012 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Neurodevelopmental disorders  Adaptive behaviour  Functional profile  Vineland Adaptive Behaviour Scale Index. décimale : PER Périodiques Résumé : We investigated the influence of specific autism spectrum disorder (ASD) deficits in learning adaptive behaviour, besides intelligence quotient (IQ). Participated 217 school-aged: ASD (N = 115), and other neurodevelopmental disorders (OND) groups (N = 102) matched by Full-Scale IQ. We compared standard scores of Vineland Adaptive Behaviour Scale (VABS) in communication, daily living skills, socialization and adaptive behaviour composite. Pearson-correlation analysis was performed between each domain of VABS and Full-Scale, Verbal and Performance IQ, and chronological age (CA). Results indicated that impairment in adaptive behaviour within the domain of socialization skills remains a distinctive factor of ASD versus OND, independently of intellectual disability (ID). Co-occurring ID result in further debilitating effects on overall functioning, especially in ASD. CA is negatively associated with VABS scores. En ligne : http://dx.doi.org/10.1007/s10803-014-2256-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258 [article] Adaptive Profiles in Autism and Other Neurodevelopmental Disorders [texte imprimé] / Susana MOUGA, Auteur ; Joana ALMEIDA, Auteur ; Cátia CAFÉ, Auteur ; Frederico DUQUE, Auteur ; Guiomar OLIVEIRA, Auteur . - p.1001-1012. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-4 (April 2015) . - p.1001-1012 Mots-clés : Autism spectrum disorder  Neurodevelopmental disorders  Adaptive behaviour  Functional profile  Vineland Adaptive Behaviour Scale Index. décimale : PER Périodiques Résumé : We investigated the influence of specific autism spectrum disorder (ASD) deficits in learning adaptive behaviour, besides intelligence quotient (IQ). Participated 217 school-aged: ASD (N = 115), and other neurodevelopmental disorders (OND) groups (N = 102) matched by Full-Scale IQ. We compared standard scores of Vineland Adaptive Behaviour Scale (VABS) in communication, daily living skills, socialization and adaptive behaviour composite. Pearson-correlation analysis was performed between each domain of VABS and Full-Scale, Verbal and Performance IQ, and chronological age (CA). Results indicated that impairment in adaptive behaviour within the domain of socialization skills remains a distinctive factor of ASD versus OND, independently of intellectual disability (ID). Co-occurring ID result in further debilitating effects on overall functioning, especially in ASD. CA is negatively associated with VABS scores. En ligne : http://dx.doi.org/10.1007/s10803-014-2256-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=258

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 Auteurs : F. CORREIA, Auteur ; C. CAFE, Auteur ; J. ALMEIDA, Auteur ; Susana MOUGA, Auteur ; Guiomar 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] / F. CORREIA, Auteur ; C. CAFE, Auteur ; J. ALMEIDA, Auteur ; Susana MOUGA, Auteur ; Guiomar 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) / Véronique 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 Auteurs : Véronique CRUTEL, Auteur ; Estelle LAMBERT, Auteur ; Pierre-François PÉNÉLAUD, Auteur ; Cristina ALBARRÁN SEVERO, Auteur ; Joaquin FUENTES, Auteur ; Antoine ROSIER, Auteur ; Amaia HERVAS, Auteur ; Stéphane MARRET, Auteur ; Guiomar OLIVEIRA, Auteur ; Mara PARELLADA, Auteur ; Simon KYAGA, Auteur ; Sylvie GOUTTEFANGEAS, Auteur ; Marianne BERTRAND, Auteur ; Denis RAVEL, Auteur ; Bruno 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] / Véronique CRUTEL, Auteur ; Estelle LAMBERT, Auteur ; Pierre-François PÉNÉLAUD, Auteur ; Cristina ALBARRÁN SEVERO, Auteur ; Joaquin FUENTES, Auteur ; Antoine ROSIER, Auteur ; Amaia HERVAS, Auteur ; Stéphane MARRET, Auteur ; Guiomar OLIVEIRA, Auteur ; Mara PARELLADA, Auteur ; Simon KYAGA, Auteur ; Sylvie GOUTTEFANGEAS, Auteur ; Marianne BERTRAND, Auteur ; Denis RAVEL, Auteur ; Bruno 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

Bumetanide oral solution for the treatment of children and adolescents with autism spectrum disorder: Results from two randomized phase III studies / Joaquin FUENTES in Autism Research, 16-10 (October 2023)  

Public ISBD [article]  inAutism Research > 16-10 (October 2023) . - p.2021-2034 Titre : Bumetanide oral solution for the treatment of children and adolescents with autism spectrum disorder: Results from two randomized phase III studies Type de document : texte imprimé Auteurs : Joaquin FUENTES, Auteur ; Mara PARELLADA, Auteur ; Christina GEORGOULA, Auteur ; Guiomar OLIVEIRA, Auteur ; Stéphane MARRET, Auteur ; Véronique CRUTEL, Auteur ; Cristina ALBARRAN, Auteur ; Estelle LAMBERT, Auteur ; Pierre-François PÉNÉLAUD, Auteur ; Denis RAVEL, Auteur ; Yehezkel BEN ARI, Auteur Article en page(s) : p.2021-2034 Index. décimale : PER Périodiques Résumé : Abstract The efficacy and safety of bumetanide oral solution for the treatment of autism spectrum disorder (ASD) in children and adolescents was evaluated in two international, multi-center, randomized, double-blind, placebo-controlled phase III trials; one enrolled patients aged 7-17 years (SIGN 1 trial) and the other enrolled younger patients aged 2-6 years (SIGN 2). In both studies, patients were randomized to receive bumetanide oral solution twice daily (BID) or placebo BID during a 6-month double-blind treatment period. The primary endpoint was change in Childhood Autism Rating Scale 2 (CARS2) total raw score from baseline to Week 26. Key secondary endpoints included changes in Social Responsiveness Scale-2, Clinical Global Impression Scale, and Vineland Adaptive Behavior Scale. Each study enrolled 211 patients (bumetanide, n 107; placebo, n 104). Both studies were terminated early due to absence of any significant difference between bumetanide and placebo in the overall studied populations. In both studies, CARS2 total raw score decreased from baseline to Week 26 in the bumetanide and placebo groups, with no statistically significant difference between groups. No differences were observed between treatment groups for any of the secondary efficacy endpoints in either study. In both studies, treatment-emergent adverse events that occurred more frequently with bumetanide than placebo included thirst, polyuria, hypokalemia, and dry mouth. These large phase III trials failed to demonstrate a benefit of bumetanide for the treatment of pediatric ASD compared with placebo. Consequently, the sponsor has discontinued the development of bumetanide for the treatment of this condition. Trial registration: https://clinicaltrials.gov: SIGN 1: NCT03715166; SIGN 2: NCT03715153. En ligne : https://doi.org/10.1002/aur.3005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513 [article] Bumetanide oral solution for the treatment of children and adolescents with autism spectrum disorder: Results from two randomized phase III studies [texte imprimé] / Joaquin FUENTES, Auteur ; Mara PARELLADA, Auteur ; Christina GEORGOULA, Auteur ; Guiomar OLIVEIRA, Auteur ; Stéphane MARRET, Auteur ; Véronique CRUTEL, Auteur ; Cristina ALBARRAN, Auteur ; Estelle LAMBERT, Auteur ; Pierre-François PÉNÉLAUD, Auteur ; Denis RAVEL, Auteur ; Yehezkel BEN ARI, Auteur . - p.2021-2034. in Autism Research > 16-10 (October 2023) . - p.2021-2034 Index. décimale : PER Périodiques Résumé : Abstract The efficacy and safety of bumetanide oral solution for the treatment of autism spectrum disorder (ASD) in children and adolescents was evaluated in two international, multi-center, randomized, double-blind, placebo-controlled phase III trials; one enrolled patients aged 7-17 years (SIGN 1 trial) and the other enrolled younger patients aged 2-6 years (SIGN 2). In both studies, patients were randomized to receive bumetanide oral solution twice daily (BID) or placebo BID during a 6-month double-blind treatment period. The primary endpoint was change in Childhood Autism Rating Scale 2 (CARS2) total raw score from baseline to Week 26. Key secondary endpoints included changes in Social Responsiveness Scale-2, Clinical Global Impression Scale, and Vineland Adaptive Behavior Scale. Each study enrolled 211 patients (bumetanide, n 107; placebo, n 104). Both studies were terminated early due to absence of any significant difference between bumetanide and placebo in the overall studied populations. In both studies, CARS2 total raw score decreased from baseline to Week 26 in the bumetanide and placebo groups, with no statistically significant difference between groups. No differences were observed between treatment groups for any of the secondary efficacy endpoints in either study. In both studies, treatment-emergent adverse events that occurred more frequently with bumetanide than placebo included thirst, polyuria, hypokalemia, and dry mouth. These large phase III trials failed to demonstrate a benefit of bumetanide for the treatment of pediatric ASD compared with placebo. Consequently, the sponsor has discontinued the development of bumetanide for the treatment of this condition. Trial registration: https://clinicaltrials.gov: SIGN 1: NCT03715166; SIGN 2: NCT03715153. En ligne : https://doi.org/10.1002/aur.3005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513

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) / Véronique 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 Auteurs : Véronique CRUTEL, Auteur ; Estelle LAMBERT, Auteur ; Pierre-François PÉNÉLAUD, Auteur ; Cristina ALBARRÁN SEVERO, Auteur ; Joaquin FUENTES, Auteur ; Antoine ROSIER, Auteur ; Amaia HERVAS, Auteur ; Stéphane MARRET, Auteur ; Guiomar OLIVEIRA, Auteur ; Mara PARELLADA, Auteur ; Simon KYAGA, Auteur ; Sylvie GOUTTEFANGEAS, Auteur ; Marianne BERTRAND, Auteur ; Denis RAVEL, Auteur ; Bruno 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] / Véronique CRUTEL, Auteur ; Estelle LAMBERT, Auteur ; Pierre-François PÉNÉLAUD, Auteur ; Cristina ALBARRÁN SEVERO, Auteur ; Joaquin FUENTES, Auteur ; Antoine ROSIER, Auteur ; Amaia HERVAS, Auteur ; Stéphane MARRET, Auteur ; Guiomar OLIVEIRA, Auteur ; Mara PARELLADA, Auteur ; Simon KYAGA, Auteur ; Sylvie GOUTTEFANGEAS, Auteur ; Marianne BERTRAND, Auteur ; Denis RAVEL, Auteur ; Bruno 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

Intellectual Profiles in the Autism Spectrum and Other Neurodevelopmental Disorders / Susana MOUGA in Journal of Autism and Developmental Disorders, 46-9 (September 2016)  

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

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

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Motor stereotypies in autism spectrum disorder: Clinical randomized study and classification proposal / Claudia MELO in Autism, 27-2 (February 2023)  

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Parahippocampal deactivation and hyperactivation of central executive, saliency and social cognition networks in autism spectrum disorder / Susana MOUGA in Journal of Neurodevelopmental Disorders, 14 (2022)  

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Prevalence and determinants of motor stereotypies in autism spectrum disorder: A systematic review and meta-analysis / Claudia MELO in Autism, 24-3 (April 2020)  

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Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders / Catarina T. CORREIA in Molecular Autism, (April 2014)  

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The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses / Joseph D. BUXBAUM in Molecular Autism, (May 2014)  

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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 / Bruno DIREITO in Autism, 25-6 (August 2021)  

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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 / Bruno DIREITO in Autism, 26-6 (August 2022)  

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