Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies / Tamar GREEN in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.25 Titre : Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies Type de document : texte imprimé Auteurs : Tamar GREEN, Auteur ; Paige E. NAYLOR, Auteur ; William DAVIES, Auteur Article en page(s) : p.25 Langues : Anglais (eng) Mots-clés : Attention deficit hyperactivity disorder  Neurofibromatosis type 1  Noonan syndrome  RASopathies  Turner syndrome  X chromosome Index. décimale : PER Périodiques Résumé : BACKGROUND: ADHD (attention deficit hyperactivity disorder) is a common neurodevelopmental disorder. There has been extensive clinical and basic research in the field of ADHD over the past 20 years, but the mechanisms underlying ADHD risk are multifactorial, complex and heterogeneous and, as yet, are poorly defined. In this review, we argue that one approach to address this challenge is to study well-defined disorders to provide insights into potential biological pathways that may be involved in idiopathic ADHD. MAIN BODY: To address this premise, we selected two neurogenetic conditions that are associated with significantly increased ADHD risk: Turner syndrome and the RASopathies (of which Noonan syndrome and neurofibromatosis type 1 are the best-defined with regard to ADHD-related phenotypes). These syndromes were chosen for two main reasons: first, because intellectual functioning is relatively preserved, and second, because they are strikingly phenotypically similar but are etiologically distinct. We review the cognitive, behavioural, neural and cellular phenotypes associated with these conditions and examine their relevance as a model for idiopathic ADHD. CONCLUSION: We conclude by discussing current and future opportunities in the clinical and basic research of these conditions, which, in turn, may shed light upon the biological pathways underlying idiopathic ADHD. En ligne : http://dx.doi.org/10.1186/s11689-017-9205-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies [texte imprimé] / Tamar GREEN, Auteur ; Paige E. NAYLOR, Auteur ; William DAVIES, Auteur . - p.25. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.25 Mots-clés : Attention deficit hyperactivity disorder  Neurofibromatosis type 1  Noonan syndrome  RASopathies  Turner syndrome  X chromosome Index. décimale : PER Périodiques Résumé : BACKGROUND: ADHD (attention deficit hyperactivity disorder) is a common neurodevelopmental disorder. There has been extensive clinical and basic research in the field of ADHD over the past 20 years, but the mechanisms underlying ADHD risk are multifactorial, complex and heterogeneous and, as yet, are poorly defined. In this review, we argue that one approach to address this challenge is to study well-defined disorders to provide insights into potential biological pathways that may be involved in idiopathic ADHD. MAIN BODY: To address this premise, we selected two neurogenetic conditions that are associated with significantly increased ADHD risk: Turner syndrome and the RASopathies (of which Noonan syndrome and neurofibromatosis type 1 are the best-defined with regard to ADHD-related phenotypes). These syndromes were chosen for two main reasons: first, because intellectual functioning is relatively preserved, and second, because they are strikingly phenotypically similar but are etiologically distinct. We review the cognitive, behavioural, neural and cellular phenotypes associated with these conditions and examine their relevance as a model for idiopathic ADHD. CONCLUSION: We conclude by discussing current and future opportunities in the clinical and basic research of these conditions, which, in turn, may shed light upon the biological pathways underlying idiopathic ADHD. En ligne : http://dx.doi.org/10.1186/s11689-017-9205-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study / Chloe Alexa MCGHEE in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) Titre : Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study Type de document : texte imprimé Auteurs : Chloe Alexa MCGHEE, Auteur ; Julia R. PLANK, Auteur ; Luca PANNONE, Auteur ; Odeya RUSSO, Auteur ; Naomi FUHRMANN, Auteur ; Aurora RUGGERI, Auteur ; Francesca Clementina RADIO, Auteur ; Simone MARTINELLI, Auteur ; Marco TARTAGLIA, Auteur ; Tamar GREEN, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are neurodevelopmental conditions caused by genetic variants leading to upregulated signaling in the RAS-MAPK pathway. While previous research has focused on genetic variability in cognitive and cardiac phenotypes, behavioral phenotypes, and their correlations across genetic variants and within the PTPN11 gene remain poorly characterized. En ligne : https://doi.org/10.1186/s13229-025-00681-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study [texte imprimé] / Chloe Alexa MCGHEE, Auteur ; Julia R. PLANK, Auteur ; Luca PANNONE, Auteur ; Odeya RUSSO, Auteur ; Naomi FUHRMANN, Auteur ; Aurora RUGGERI, Auteur ; Francesca Clementina RADIO, Auteur ; Simone MARTINELLI, Auteur ; Marco TARTAGLIA, Auteur ; Tamar GREEN, Auteur. Langues : Anglais (eng) in Molecular Autism > 16 (2025) Index. décimale : PER Périodiques Résumé : Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are neurodevelopmental conditions caused by genetic variants leading to upregulated signaling in the RAS-MAPK pathway. While previous research has focused on genetic variability in cognitive and cardiac phenotypes, behavioral phenotypes, and their correlations across genetic variants and within the PTPN11 gene remain poorly characterized. En ligne : https://doi.org/10.1186/s13229-025-00681-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

Transdiagnostic similarities and distinctions in brain networks associated with autistic social impairments: a prospective cohort study / Jennifer L. BRUNO in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) Titre : Transdiagnostic similarities and distinctions in brain networks associated with autistic social impairments: a prospective cohort study Type de document : texte imprimé Auteurs : Jennifer L. BRUNO, Auteur ; Julia R. PLANK, Auteur ; Samantha LEDER, Auteur ; Evelyn M. R. LAKE, Auteur ; Emily S. FINN, Auteur ; Tamar GREEN, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Despite high rates of autism spectrum disorder (ASD), understanding of pathophysiology is limited. The RAS-mitogen-activated protein kinase (RAS-MAPK) pathway plays a crucial role in ASD and is altered in children with Noonan syndrome (NS). Children with NS offer a unique model to disentangle genetic and neurological underpinnings of ASD. En ligne : https://doi.org/10.1186/s13229-025-00686-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 [article] Transdiagnostic similarities and distinctions in brain networks associated with autistic social impairments: a prospective cohort study [texte imprimé] / Jennifer L. BRUNO, Auteur ; Julia R. PLANK, Auteur ; Samantha LEDER, Auteur ; Evelyn M. R. LAKE, Auteur ; Emily S. FINN, Auteur ; Tamar GREEN, Auteur. Langues : Anglais (eng) in Molecular Autism > 16 (2025) Index. décimale : PER Périodiques Résumé : Despite high rates of autism spectrum disorder (ASD), understanding of pathophysiology is limited. The RAS-mitogen-activated protein kinase (RAS-MAPK) pathway plays a crucial role in ASD and is altered in children with Noonan syndrome (NS). Children with NS offer a unique model to disentangle genetic and neurological underpinnings of ASD. En ligne : https://doi.org/10.1186/s13229-025-00686-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584

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