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Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 / E. I. PIERPONT in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
[article]
Titre : Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 Type de document : Texte imprimé et/ou numérique Auteurs : E. I. PIERPONT, Auteur ; R. L. HUDOCK, Auteur ; A. M. FOY, Auteur ; M. SEMRUD-CLIKEMAN, Auteur ; M. E. PIERPONT, Auteur ; S. A. BERRY, Auteur ; R. SHANLEY, Auteur ; N. RUBIN, Auteur ; K. SOMMER, Auteur ; C. L. MOERTEL, Auteur Année de publication : 2018 Article en page(s) : 21 p. Langues : Anglais (eng) Mots-clés : Language Nf1 Neurofibromatosis type 1 Neuropsychological Noonan syndrome RASopathies Social Index. décimale : PER Périodiques Résumé : BACKGROUND: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS. METHODS: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child's social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety. RESULTS: With respect to overall social skills, average ratings of children in both clinical groups were similar, and indicated weaker social skills compared to unaffected siblings. Although ratings of social skills were outside of normal limits for more than four in ten children within the clinical groups, most of the deficits were mild/moderate. Fifteen percent of the children with NS and 5% of the children with NF1 were rated as having severe social skills impairment (< - 2SD). Independent of diagnosis, having fewer ADHD symptoms or better social-pragmatic language skills was predictive of stronger social skills. CONCLUSIONS: Amidst efforts to support social skill development among children and adolescents with RASopathies, neuropsychological correlates such as social language competence, attention, and behavioral self-regulation could be important targets of intervention. En ligne : http://dx.doi.org/10.1186/s11689-018-9239-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 21 p.[article] Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 [Texte imprimé et/ou numérique] / E. I. PIERPONT, Auteur ; R. L. HUDOCK, Auteur ; A. M. FOY, Auteur ; M. SEMRUD-CLIKEMAN, Auteur ; M. E. PIERPONT, Auteur ; S. A. BERRY, Auteur ; R. SHANLEY, Auteur ; N. RUBIN, Auteur ; K. SOMMER, Auteur ; C. L. MOERTEL, Auteur . - 2018 . - 21 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 21 p.
Mots-clés : Language Nf1 Neurofibromatosis type 1 Neuropsychological Noonan syndrome RASopathies Social Index. décimale : PER Périodiques Résumé : BACKGROUND: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS. METHODS: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child's social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety. RESULTS: With respect to overall social skills, average ratings of children in both clinical groups were similar, and indicated weaker social skills compared to unaffected siblings. Although ratings of social skills were outside of normal limits for more than four in ten children within the clinical groups, most of the deficits were mild/moderate. Fifteen percent of the children with NS and 5% of the children with NF1 were rated as having severe social skills impairment (< - 2SD). Independent of diagnosis, having fewer ADHD symptoms or better social-pragmatic language skills was predictive of stronger social skills. CONCLUSIONS: Amidst efforts to support social skill development among children and adolescents with RASopathies, neuropsychological correlates such as social language competence, attention, and behavioral self-regulation could be important targets of intervention. En ligne : http://dx.doi.org/10.1186/s11689-018-9239-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies / T. GREEN in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies Type de document : Texte imprimé et/ou numérique Auteurs : T. GREEN, Auteur ; P. E. NAYLOR, Auteur ; W. 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
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.25[article] Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies [Texte imprimé et/ou numérique] / T. GREEN, Auteur ; P. E. NAYLOR, Auteur ; W. 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