COVID-19 pandemic effects in people with Autism Spectrum Disorder and their caregivers: Evaluation of social distancing and lockdown impact on mental health and general status / Jorge LUGO-MARÍN in Research in Autism Spectrum Disorders, 83 (May 2021)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 83 (May 2021) . - 101757 Titre : COVID-19 pandemic effects in people with Autism Spectrum Disorder and their caregivers: Evaluation of social distancing and lockdown impact on mental health and general status Type de document : Texte imprimé et/ou numérique Auteurs : Jorge LUGO-MARÍN, Auteur ; Laura GISBERT-GUSTEMPS, Auteur ; Imanol SETIEN-RAMOS, Auteur ; Gemma ESPAÑOL-MARTIN, Auteur ; Pol IBAÑEZ-JIMENEZ, Auteur ; Mireia FORNER-PUNTONET, Auteur ; Gara ARTEAGA-HENRIQUEZ, Auteur ; Albert SORIANO-DIA, Auteur ; Juan David DUQUE-YEMAIL, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur Article en page(s) : 101757 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  COVID-19  Mental health  Caregivers  Pre-post design  Survey Index. décimale : PER Périodiques Résumé : Among the difficulties associated with Autism Spectrum Disorder (ASD) are those related to adaptation to changes and new situations, as well as anxious-depressive symptoms frequently related to excessive environmental requirements. The main objective of this research is to study the psychological impact of the lockdown due to the social emergency situation (COVID-19) in children/adolescents and adults diagnosed with ASD. Participants were 37 caregivers of children/adolescents with ASD, also 35 ASD adults and 32 informants. Evaluation was conducted through a web survey system and included standardized clinical questionnaires (CBCL and SCL-90-R), which were compared with results before lockdown start, and a brief self-reported survey addressing the subjective perception of changes in daily functioning areas. The results revealed a reduction of psychopathological symptoms in both age groups, but only reaching statistical significance in the adult group, except for Somatization, Anxiety, and Obsessive-Compulsive domains. ASD severity Level 2 showed greater improvement after lockdown onset in the children/adolescent group when compared to ASD Level 1 participants. Younger adults (18–25 yoa) reported greater improvement than older adults (=>25 yoa). Survey results indicate an improvement of feeding quality and a reduction in the number of social initiations during the lockdown. Adult ASD participants perceived a decrease in stress levels after the lockdown onset, whereas caregivers reported higher stress levels at the same point in both age groups. Limitations included the small number of participants and a heterogeneous evaluation window between measures. Pyschopathological status after two months of social distancing and lockdown seems to improve in ASD young adult population. En ligne : https://doi.org/10.1016/j.rasd.2021.101757 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=446 [article] COVID-19 pandemic effects in people with Autism Spectrum Disorder and their caregivers: Evaluation of social distancing and lockdown impact on mental health and general status [Texte imprimé et/ou numérique] / Jorge LUGO-MARÍN, Auteur ; Laura GISBERT-GUSTEMPS, Auteur ; Imanol SETIEN-RAMOS, Auteur ; Gemma ESPAÑOL-MARTIN, Auteur ; Pol IBAÑEZ-JIMENEZ, Auteur ; Mireia FORNER-PUNTONET, Auteur ; Gara ARTEAGA-HENRIQUEZ, Auteur ; Albert SORIANO-DIA, Auteur ; Juan David DUQUE-YEMAIL, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur . - 101757. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 83 (May 2021) . - 101757 Mots-clés : Autism Spectrum Disorder  COVID-19  Mental health  Caregivers  Pre-post design  Survey Index. décimale : PER Périodiques Résumé : Among the difficulties associated with Autism Spectrum Disorder (ASD) are those related to adaptation to changes and new situations, as well as anxious-depressive symptoms frequently related to excessive environmental requirements. The main objective of this research is to study the psychological impact of the lockdown due to the social emergency situation (COVID-19) in children/adolescents and adults diagnosed with ASD. Participants were 37 caregivers of children/adolescents with ASD, also 35 ASD adults and 32 informants. Evaluation was conducted through a web survey system and included standardized clinical questionnaires (CBCL and SCL-90-R), which were compared with results before lockdown start, and a brief self-reported survey addressing the subjective perception of changes in daily functioning areas. The results revealed a reduction of psychopathological symptoms in both age groups, but only reaching statistical significance in the adult group, except for Somatization, Anxiety, and Obsessive-Compulsive domains. ASD severity Level 2 showed greater improvement after lockdown onset in the children/adolescent group when compared to ASD Level 1 participants. Younger adults (18–25 yoa) reported greater improvement than older adults (=>25 yoa). Survey results indicate an improvement of feeding quality and a reduction in the number of social initiations during the lockdown. Adult ASD participants perceived a decrease in stress levels after the lockdown onset, whereas caregivers reported higher stress levels at the same point in both age groups. Limitations included the small number of participants and a heterogeneous evaluation window between measures. Pyschopathological status after two months of social distancing and lockdown seems to improve in ASD young adult population. En ligne : https://doi.org/10.1016/j.rasd.2021.101757 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=446

Dog-Assisted Therapy vs Relaxation for Children and Adolescents with Fetal Alcohol Spectrum Disorder: A Randomized Controlled Study / Laura VIDAL ; Jorge LUGO ; Francesc RISTOL ; Eva DOMÈNEC ; Teresa CASAS ; Anna VEIGA ; Cristina VICO ; Josep Antoni RAMOS-QUIROGA ; Nuria GÓMEZ-BARROS in Journal of Autism and Developmental Disorders, 54-8 (August 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-8 (August 2024) . - p.3133-3141 Titre : Dog-Assisted Therapy vs Relaxation for Children and Adolescents with Fetal Alcohol Spectrum Disorder: A Randomized Controlled Study Type de document : Texte imprimé et/ou numérique Auteurs : Laura VIDAL, Auteur ; Jorge LUGO, Auteur ; Francesc RISTOL, Auteur ; Eva DOMÈNEC, Auteur ; Teresa CASAS, Auteur ; Anna VEIGA, Auteur ; Cristina VICO, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur ; Nuria GÓMEZ-BARROS, Auteur Article en page(s) : p.3133-3141 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The rationale of this study was to evaluate the efficacy of Dog-assisted Therapy (DAT) in children and adolescents with Fetal Alcohol Spectrum Disorder (FASD). We conducted a randomized controlled trial in a cohort of 71 children and adolescents with FASD. Participants were randomly assigned either to DAT group (n = 38) or Relaxation Group (control group) (n = 33). Results revealed that participants who were assigned to the DAT group experienced significantly reduced externalizing symptoms (CBCL Externalizing Inattention: t (69) = 2.81, p = .007; d = 0.7); CBCL Opposition: t (69) = 2.54, p = .013; d = 0.6), reduced internalizing symptoms (CBCL Social problems: t (69) = 3.21, p = .002; d = 0.8) as well as improvements on social skills (SSIS-P Problem behavior: t (68) = 2.55, p = .013; d = 0.6), and quality of life (KidScreen Autonomy and Parents: t (51) = ? 2.03, p = .047; d = 0.5) compared to the relaxation control group. The relaxation control group obtained significant differences between the pre- and post-treatment evaluation, diminishing withdraw symptoms (t (32) = 3.03, p = .005; d = 0.2). Results suggest that DAT and relaxation may be promising adjunctive treatments for children and adolescents with FASD. En ligne : https://doi.org/10.1007/s10803-023-06023-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534 [article] Dog-Assisted Therapy vs Relaxation for Children and Adolescents with Fetal Alcohol Spectrum Disorder: A Randomized Controlled Study [Texte imprimé et/ou numérique] / Laura VIDAL, Auteur ; Jorge LUGO, Auteur ; Francesc RISTOL, Auteur ; Eva DOMÈNEC, Auteur ; Teresa CASAS, Auteur ; Anna VEIGA, Auteur ; Cristina VICO, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur ; Nuria GÓMEZ-BARROS, Auteur . - p.3133-3141. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-8 (August 2024) . - p.3133-3141 Index. décimale : PER Périodiques Résumé : The rationale of this study was to evaluate the efficacy of Dog-assisted Therapy (DAT) in children and adolescents with Fetal Alcohol Spectrum Disorder (FASD). We conducted a randomized controlled trial in a cohort of 71 children and adolescents with FASD. Participants were randomly assigned either to DAT group (n = 38) or Relaxation Group (control group) (n = 33). Results revealed that participants who were assigned to the DAT group experienced significantly reduced externalizing symptoms (CBCL Externalizing Inattention: t (69) = 2.81, p = .007; d = 0.7); CBCL Opposition: t (69) = 2.54, p = .013; d = 0.6), reduced internalizing symptoms (CBCL Social problems: t (69) = 3.21, p = .002; d = 0.8) as well as improvements on social skills (SSIS-P Problem behavior: t (68) = 2.55, p = .013; d = 0.6), and quality of life (KidScreen Autonomy and Parents: t (51) = ? 2.03, p = .047; d = 0.5) compared to the relaxation control group. The relaxation control group obtained significant differences between the pre- and post-treatment evaluation, diminishing withdraw symptoms (t (32) = 3.03, p = .005; d = 0.2). Results suggest that DAT and relaxation may be promising adjunctive treatments for children and adolescents with FASD. En ligne : https://doi.org/10.1007/s10803-023-06023-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534

Extended-release guanfacine hydrochloride in 6–17-year olds with ADHD: a randomised-withdrawal maintenance of efficacy study / Jeffrey H. NEWCORN in Journal of Child Psychology and Psychiatry, 57-6 (June 2016)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 57-6 (June 2016) . - p.717-728 Titre : Extended-release guanfacine hydrochloride in 6–17-year olds with ADHD: a randomised-withdrawal maintenance of efficacy study Type de document : Texte imprimé et/ou numérique Auteurs : Jeffrey H. NEWCORN, Auteur ; Valerie HARPIN, Auteur ; Michael HUSS, Auteur ; Andrew LYNE, Auteur ; Vanja SIKIRICA, Auteur ; Mats JOHNSON, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur ; Judy VAN STRALEN, Auteur ; Benoit DUTRAY, Auteur ; Sasha SRECKOVIC, Auteur ; Ralph BLOOMFIELD, Auteur ; Brigitte ROBERTSON, Auteur Article en page(s) : p.717-728 Langues : Anglais (eng) Mots-clés : Long term  efficacy  randomised  withdrawal  attention-deficit/hyperactivity disorder  guanfacine Index. décimale : PER Périodiques Résumé : Background Extended-release guanfacine hydrochloride (GXR), a selective ?2A-adrenergic agonist, is a nonstimulant medication for attention-deficit/hyperactivity disorder (ADHD). This phase 3, double-blind, placebo-controlled, randomised-withdrawal study evaluated the long-term maintenance of GXR efficacy in children/adolescents with ADHD. Methods Children/adolescents (6–17 years) with ADHD received open-label GXR (1–7 mg/day). After 13 weeks, responders were randomised to GXR or placebo in the 26-week, double-blind, randomised-withdrawal phase (RWP). The primary endpoint was the percentage of treatment failure (?50% increase in ADHD Rating Scale version IV total score and ?2-point increase in Clinical Global Impression-Severity compared with RWP baseline, at two consecutive visits). The key secondary endpoint was time to treatment failure (TTF). Trial registration ClinicalTrials.gov identifier NCT01081145; EudraCT 2009-018161-12. Results A total of 528 participants enrolled; 316 (59.8%) entered the RWP. Treatment failure occurred in 49.3% of the GXR and 64.9% of the placebo group (p = 0.006). TTF was significantly longer in GXR versus placebo (p = 0.003). GXR was well tolerated. Conclusions Guanfacine hydrochloride demonstrated long-term maintenance of efficacy compared with placebo in children/adolescents with ADHD. Implications of the placebo substitution design and findings with different ADHD medications are discussed. En ligne : http://dx.doi.org/10.1111/jcpp.12492 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=289 [article] Extended-release guanfacine hydrochloride in 6–17-year olds with ADHD: a randomised-withdrawal maintenance of efficacy study [Texte imprimé et/ou numérique] / Jeffrey H. NEWCORN, Auteur ; Valerie HARPIN, Auteur ; Michael HUSS, Auteur ; Andrew LYNE, Auteur ; Vanja SIKIRICA, Auteur ; Mats JOHNSON, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur ; Judy VAN STRALEN, Auteur ; Benoit DUTRAY, Auteur ; Sasha SRECKOVIC, Auteur ; Ralph BLOOMFIELD, Auteur ; Brigitte ROBERTSON, Auteur . - p.717-728. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 57-6 (June 2016) . - p.717-728 Mots-clés : Long term  efficacy  randomised  withdrawal  attention-deficit/hyperactivity disorder  guanfacine Index. décimale : PER Périodiques Résumé : Background Extended-release guanfacine hydrochloride (GXR), a selective ?2A-adrenergic agonist, is a nonstimulant medication for attention-deficit/hyperactivity disorder (ADHD). This phase 3, double-blind, placebo-controlled, randomised-withdrawal study evaluated the long-term maintenance of GXR efficacy in children/adolescents with ADHD. Methods Children/adolescents (6–17 years) with ADHD received open-label GXR (1–7 mg/day). After 13 weeks, responders were randomised to GXR or placebo in the 26-week, double-blind, randomised-withdrawal phase (RWP). The primary endpoint was the percentage of treatment failure (?50% increase in ADHD Rating Scale version IV total score and ?2-point increase in Clinical Global Impression-Severity compared with RWP baseline, at two consecutive visits). The key secondary endpoint was time to treatment failure (TTF). Trial registration ClinicalTrials.gov identifier NCT01081145; EudraCT 2009-018161-12. Results A total of 528 participants enrolled; 316 (59.8%) entered the RWP. Treatment failure occurred in 49.3% of the GXR and 64.9% of the placebo group (p = 0.006). TTF was significantly longer in GXR versus placebo (p = 0.003). GXR was well tolerated. Conclusions Guanfacine hydrochloride demonstrated long-term maintenance of efficacy compared with placebo in children/adolescents with ADHD. Implications of the placebo substitution design and findings with different ADHD medications are discussed. En ligne : http://dx.doi.org/10.1111/jcpp.12492 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=289

Eye-Tracking Studies in Adults with Autism Spectrum Disorder: A Systematic Review and Meta-analysis / Imanol SETIEN-RAMOS ; Jorge LUGO-MARÍN ; Laura GISBERT-GUSTEMPS ; Emiliano Díez-Villoria ; María MAGÁN-MAGANTO ; Ricardo CANAL-BEDIA ; Josep Antoni RAMOS-QUIROGA in Journal of Autism and Developmental Disorders, 53-6 (June 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-6 (June 2023) . - p.2430-2443 Titre : Eye-Tracking Studies in Adults with Autism Spectrum Disorder: A Systematic Review and Meta-analysis : Journal of Autism and Developmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Imanol SETIEN-RAMOS, Auteur ; Jorge LUGO-MARÍN, Auteur ; Laura GISBERT-GUSTEMPS, Auteur ; Emiliano Díez-Villoria, Auteur ; María MAGÁN-MAGANTO, Auteur ; Ricardo CANAL-BEDIA, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur Article en page(s) : p.2430-2443 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Eye-tracking studies have shown potential in effectively discriminating between autism spectrum disorder (ASD) and non-ASD groups. The main objective of the present study was to conduct a systematic review and meta-analysis of eye-tracking studies in adults with ASD. A total of 22 studies were included for meta-analysis. Eyes and Non-Social regions proved better for discriminating between ASD and non-ASD adults, while fixation duration seems to be the outcome to choose. Active engaged tasks seem to reduce differences between ASD and non-ASD adults, regardless of the emotional content of the stimuli/task. Proportional fixation duration on eyes and non-social areas in non-active tasks (e.g. free viewing) seems to be the best eye-tracking design for increasing the sensitivity and specificity in ASD adults. En ligne : https://doi.org/10.1007/s10803-022-05524-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=506 [article] Eye-Tracking Studies in Adults with Autism Spectrum Disorder: A Systematic Review and Meta-analysis : Journal of Autism and Developmental Disorders [Texte imprimé et/ou numérique] / Imanol SETIEN-RAMOS, Auteur ; Jorge LUGO-MARÍN, Auteur ; Laura GISBERT-GUSTEMPS, Auteur ; Emiliano Díez-Villoria, Auteur ; María MAGÁN-MAGANTO, Auteur ; Ricardo CANAL-BEDIA, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur . - p.2430-2443. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-6 (June 2023) . - p.2430-2443 Index. décimale : PER Périodiques Résumé : Eye-tracking studies have shown potential in effectively discriminating between autism spectrum disorder (ASD) and non-ASD groups. The main objective of the present study was to conduct a systematic review and meta-analysis of eye-tracking studies in adults with ASD. A total of 22 studies were included for meta-analysis. Eyes and Non-Social regions proved better for discriminating between ASD and non-ASD adults, while fixation duration seems to be the outcome to choose. Active engaged tasks seem to reduce differences between ASD and non-ASD adults, regardless of the emotional content of the stimuli/task. Proportional fixation duration on eyes and non-social areas in non-active tasks (e.g. free viewing) seems to be the best eye-tracking design for increasing the sensitivity and specificity in ASD adults. En ligne : https://doi.org/10.1007/s10803-022-05524-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=506

SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder / Sören MERKER in Journal of Child Psychology and Psychiatry, 58-7 (July 2017)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 58-7 (July 2017) . - p.798-809 Titre : SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder Type de document : Texte imprimé et/ou numérique Auteurs : Sören MERKER, Auteur ; Andreas REIF, Auteur ; Georg C. ZIEGLER, Auteur ; Heike WEBER, Auteur ; Ute MAYER, Auteur ; Ann-Christine EHLIS, Auteur ; Annette CONZELMANN, Auteur ; Stefan JOHANSSON, Auteur ; Clemens MÜLLER-REIBLE, Auteur ; Indrajit NANDA, Auteur ; Thomas HAAF, Auteur ; Reinhard ULLMANN, Auteur ; Marcel ROMANOS, Auteur ; Andreas J. FALLGATTER, Auteur ; Paul PAULI, Auteur ; Tatyana STREKALOVA, Auteur ; Charline JANSCH, Auteur ; Alejandro ARIAS-VASQUEZ, Auteur ; Jan HAAVIK, Auteur ; Marta RIBASES, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur ; Jan K. BUITELAAR, Auteur ; Barbara FRANKE, Auteur ; Klaus-Peter LESCH, Auteur Article en page(s) : p.798-809 Langues : Anglais (eng) Mots-clés : Attention-deficit/hyperactivity disorder  glucose transporter  SLC2A3  single-nucleotide polymorphisms  duplication  copy number variants  energy homeostasis  frontostriatal network Index. décimale : PER Périodiques Résumé : Background Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder with profound cognitive, behavioral, and psychosocial impairments with persistence across the life cycle. Our initial genome-wide screening approach for copy number variants (CNVs) in ADHD implicated a duplication of SLC2A3, encoding glucose transporter-3 (GLUT3). GLUT3 plays a critical role in cerebral glucose metabolism, providing energy for the activity of neurons, which, in turn, moderates the excitatory–inhibitory balance impacting both brain development and activity-dependent neural plasticity. We therefore aimed to provide additional genetic and functional evidence for GLUT3 dysfunction in ADHD. Methods Case–control association analyses of SLC2A3 single-nucleotide polymorphisms (SNPs) and CNVs were conducted in several European cohorts of patients with childhood and adult ADHD (SNP, n = 1,886 vs. 1,988; CNV, n = 1,692 vs. 1,721). These studies were complemented by SLC2A3 expression analyses in peripheral cells, functional EEG recordings during neurocognitive tasks, and ratings of food energy content. Results Meta-analysis of all cohorts detected an association of SNP rs12842 with ADHD. While CNV analysis detected a population-specific enrichment of SLC2A3 duplications only in German ADHD patients, the CNV + rs12842 haplotype influenced ADHD risk in both the German and Spanish cohorts. Duplication carriers displayed elevated SLC2A3 mRNA expression in peripheral blood cells and altered event-related potentials reflecting deficits in working memory and cognitive response control, both endophenotypic traits of ADHD, and an underestimation of energy units of high-caloric food. Conclusions Taken together, our results indicate that both common and rare SLC2A3 variation impacting regulation of neuronal glucose utilization and energy homeostasis may result in neurocognitive deficits known to contribute to ADHD risk. En ligne : http://dx.doi.org/10.1111/jcpp.12702 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=316 [article] SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder [Texte imprimé et/ou numérique] / Sören MERKER, Auteur ; Andreas REIF, Auteur ; Georg C. ZIEGLER, Auteur ; Heike WEBER, Auteur ; Ute MAYER, Auteur ; Ann-Christine EHLIS, Auteur ; Annette CONZELMANN, Auteur ; Stefan JOHANSSON, Auteur ; Clemens MÜLLER-REIBLE, Auteur ; Indrajit NANDA, Auteur ; Thomas HAAF, Auteur ; Reinhard ULLMANN, Auteur ; Marcel ROMANOS, Auteur ; Andreas J. FALLGATTER, Auteur ; Paul PAULI, Auteur ; Tatyana STREKALOVA, Auteur ; Charline JANSCH, Auteur ; Alejandro ARIAS-VASQUEZ, Auteur ; Jan HAAVIK, Auteur ; Marta RIBASES, Auteur ; Josep Antoni RAMOS-QUIROGA, Auteur ; Jan K. BUITELAAR, Auteur ; Barbara FRANKE, Auteur ; Klaus-Peter LESCH, Auteur . - p.798-809. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 58-7 (July 2017) . - p.798-809 Mots-clés : Attention-deficit/hyperactivity disorder  glucose transporter  SLC2A3  single-nucleotide polymorphisms  duplication  copy number variants  energy homeostasis  frontostriatal network Index. décimale : PER Périodiques Résumé : Background Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder with profound cognitive, behavioral, and psychosocial impairments with persistence across the life cycle. Our initial genome-wide screening approach for copy number variants (CNVs) in ADHD implicated a duplication of SLC2A3, encoding glucose transporter-3 (GLUT3). GLUT3 plays a critical role in cerebral glucose metabolism, providing energy for the activity of neurons, which, in turn, moderates the excitatory–inhibitory balance impacting both brain development and activity-dependent neural plasticity. We therefore aimed to provide additional genetic and functional evidence for GLUT3 dysfunction in ADHD. Methods Case–control association analyses of SLC2A3 single-nucleotide polymorphisms (SNPs) and CNVs were conducted in several European cohorts of patients with childhood and adult ADHD (SNP, n = 1,886 vs. 1,988; CNV, n = 1,692 vs. 1,721). These studies were complemented by SLC2A3 expression analyses in peripheral cells, functional EEG recordings during neurocognitive tasks, and ratings of food energy content. Results Meta-analysis of all cohorts detected an association of SNP rs12842 with ADHD. While CNV analysis detected a population-specific enrichment of SLC2A3 duplications only in German ADHD patients, the CNV + rs12842 haplotype influenced ADHD risk in both the German and Spanish cohorts. Duplication carriers displayed elevated SLC2A3 mRNA expression in peripheral blood cells and altered event-related potentials reflecting deficits in working memory and cognitive response control, both endophenotypic traits of ADHD, and an underestimation of energy units of high-caloric food. Conclusions Taken together, our results indicate that both common and rare SLC2A3 variation impacting regulation of neuronal glucose utilization and energy homeostasis may result in neurocognitive deficits known to contribute to ADHD risk. En ligne : http://dx.doi.org/10.1111/jcpp.12702 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=316

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