3 recherche sur le mot-clé 'Neuropsychological'

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication / LeeAnne GREEN SNYDER in Journal of Autism and Developmental Disorders, 46-8 (August 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Titre : Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication Type de document : texte imprimé Auteurs : LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael A. BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily S. KUSCHNER, Auteur ; Timothy P.L. ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur Article en page(s) : p.2734-2748 Langues : Anglais (eng) Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291 [article] Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication [texte imprimé] / LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael A. BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily S. KUSCHNER, Auteur ; Timothy P.L. ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur . - p.2734-2748. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 / Elizabeth I. PIERPONT in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 21 p. Titre : Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 Type de document : texte imprimé Auteurs : Elizabeth I. PIERPONT, Auteur ; Rebekah L. HUDOCK, Auteur ; Allison M. FOY, Auteur ; Margaret SEMRUD-CLIKEMAN, Auteur ; Mary Ella PIERPONT, Auteur ; Susan A. BERRY, Auteur ; Ryan SHANLEY, Auteur ; Nathan RUBIN, Auteur ; Katherine SOMMER, Auteur ; Christopher 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 [article] Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1 [texte imprimé] / Elizabeth I. PIERPONT, Auteur ; Rebekah L. HUDOCK, Auteur ; Allison M. FOY, Auteur ; Margaret SEMRUD-CLIKEMAN, Auteur ; Mary Ella PIERPONT, Auteur ; Susan A. BERRY, Auteur ; Ryan SHANLEY, Auteur ; Nathan RUBIN, Auteur ; Katherine SOMMER, Auteur ; Christopher 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

The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review / Stephanie VANCLOOSTER in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review Type de document : texte imprimé Auteurs : Stephanie VANCLOOSTER, Auteur ; Stacey BISSELL, Auteur ; Agnies M. VAN EEGHEN, Auteur ; Nola CHAMBERS, Auteur ; Liesbeth DE WAELE, Auteur ; Anna W. BYARS, Auteur ; Jamie K. CAPAL, Auteur ; Sebastián CUKIER, Auteur ; Peter DAVIS, Auteur ; Jennifer FLINN, Auteur ; Sugnet GARDNER-LUBBE, Auteur ; Tanjala GIPSON, Auteur ; Tosca-Marie HEUNIS, Auteur ; Dena HOOK, Auteur ; J. Christopher KINGSWOOD, Auteur ; Darcy A. KRUEGER, Auteur ; Aubrey J. KUMM, Auteur ; Mustafa SAHIN, Auteur ; Eva SCHOETERS, Auteur ; Catherine SMITH, Auteur ; Shoba SRIVASTAVA, Auteur ; Megumi TAKEI, Auteur ; Robert WALTEREIT, Auteur ; Anna C. JANSEN, Auteur ; Petrus J. DE VRIES, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Aged  Autism Spectrum Disorder  Cohort Studies  Humans  Tuberous Sclerosis/complications/psychology  Autism  Behaviour  Intellectual  Neuropsychological  Psychiatric  Psychosocial  Scholastic  Scoping review  TSC-associated neuropsychiatric disorders  Tuberous sclerosis complex  syndromes, including TSC. PD receives partial salary support from the NIH for  participation in studies related to TSC, as well as from Aucta Pharmaceuticals  for a study of topical sirolimus for facial angiofibromas in TSC and Marinus  Pharmaceuticals for a study of ganaxolone for TSC-related epilepsy. DAK reports  grants from National Institutes of Health (NINDS) during the conduct of the study  as well as the personal fees from Novartis Pharmaceuticals, personal fees from  Greenwich Bioscience, grants from Marinus Pharmaceuticals, personal fees from  Nobelpharma America, personal fees from REGENXBIO, and grants and non-financial  support from TSC Alliance outside the submitted work. CS receives salary support  from the TSC Alliance, a non-profit organisation which reports revenue from  individual donors and corporations including Greenwich Biosciences, GW Pharma,  Mallinckrodt, Nobelpharma, Novartis, Ovid, UCB and Upsher-Smith. PJdV was a study  steering committee member of three phase III trials sponsored by Novartis. He and  AJ were also on the scientific advisory group of the TOSCA international disease  registry sponsored by Novartis. MS reports grant support from Novartis, Biogen,  Astellas, Aeovian, Bridgebio and Aucta, and has served on Scientific Advisory  Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar  Therapeutics and Alkermes. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% of individuals with TSC during their lifetime, these manifestations are relatively under-assessed, under-treated and under-researched. We performed a comprehensive scoping review of all TAND research to date (a) to describe the existing TAND research landscape and (b) to identify knowledge gaps to guide future TAND research. METHODS: The study was conducted in accordance with stages outlined within the Arksey and O'Malley scoping review framework. Ten research questions relating to study characteristics, research design and research content of TAND levels and clusters were examined. RESULTS: Of the 2841 returned searches, 230 articles published between 1987 and 2020 were included (animal studies = 30, case studies = 47, cohort studies = 153), with more than half published since the term TAND was coined in 2012 (118/230; 51%). Cohort studies largely involved children and/or adolescents (63%) as opposed to older adults (16%). Studies were represented across 341 individual research sites from 45 countries, the majority from the USA (89/341; 26%) and the UK (50/341; 15%). Only 48 research sites (14%) were within low-middle income countries (LMICs). Animal studies and case studies were of relatively high/high quality, but cohort studies showed significant variability. Of the 153 cohort studies, only 16 (10%) included interventions. None of these were non-pharmacological, and only 13 employed remote methodologies (e.g. telephone interviews, online surveys). Of all TAND clusters, the autism spectrum disorder-like cluster was the most widely researched (138/230; 60%) and the scholastic cluster the least (53/200; 27%). CONCLUSIONS: Despite the recent increase in TAND research, studies that represent participants across the lifespan, LMIC research sites and non-pharmacological interventions were identified as future priorities. The quality of cohort studies requires improvement, to which the use of standardised direct behavioural assessments may contribute. In human studies, the academic level in particular warrants further investigation. Remote technologies could help to address many of the TAND knowledge gaps identified. En ligne : https://dx.doi.org/10.1186/s11689-022-09423-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review [texte imprimé] / Stephanie VANCLOOSTER, Auteur ; Stacey BISSELL, Auteur ; Agnies M. VAN EEGHEN, Auteur ; Nola CHAMBERS, Auteur ; Liesbeth DE WAELE, Auteur ; Anna W. BYARS, Auteur ; Jamie K. CAPAL, Auteur ; Sebastián CUKIER, Auteur ; Peter DAVIS, Auteur ; Jennifer FLINN, Auteur ; Sugnet GARDNER-LUBBE, Auteur ; Tanjala GIPSON, Auteur ; Tosca-Marie HEUNIS, Auteur ; Dena HOOK, Auteur ; J. Christopher KINGSWOOD, Auteur ; Darcy A. KRUEGER, Auteur ; Aubrey J. KUMM, Auteur ; Mustafa SAHIN, Auteur ; Eva SCHOETERS, Auteur ; Catherine SMITH, Auteur ; Shoba SRIVASTAVA, Auteur ; Megumi TAKEI, Auteur ; Robert WALTEREIT, Auteur ; Anna C. JANSEN, Auteur ; Petrus J. DE VRIES, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Adolescent  Aged  Autism Spectrum Disorder  Cohort Studies  Humans  Tuberous Sclerosis/complications/psychology  Autism  Behaviour  Intellectual  Neuropsychological  Psychiatric  Psychosocial  Scholastic  Scoping review  TSC-associated neuropsychiatric disorders  Tuberous sclerosis complex  syndromes, including TSC. PD receives partial salary support from the NIH for  participation in studies related to TSC, as well as from Aucta Pharmaceuticals  for a study of topical sirolimus for facial angiofibromas in TSC and Marinus  Pharmaceuticals for a study of ganaxolone for TSC-related epilepsy. DAK reports  grants from National Institutes of Health (NINDS) during the conduct of the study  as well as the personal fees from Novartis Pharmaceuticals, personal fees from  Greenwich Bioscience, grants from Marinus Pharmaceuticals, personal fees from  Nobelpharma America, personal fees from REGENXBIO, and grants and non-financial  support from TSC Alliance outside the submitted work. CS receives salary support  from the TSC Alliance, a non-profit organisation which reports revenue from  individual donors and corporations including Greenwich Biosciences, GW Pharma,  Mallinckrodt, Nobelpharma, Novartis, Ovid, UCB and Upsher-Smith. PJdV was a study  steering committee member of three phase III trials sponsored by Novartis. He and  AJ were also on the scientific advisory group of the TOSCA international disease  registry sponsored by Novartis. MS reports grant support from Novartis, Biogen,  Astellas, Aeovian, Bridgebio and Aucta, and has served on Scientific Advisory  Boards for Novartis, Roche, Regenxbio, SpringWorks Therapeutics, Jaguar  Therapeutics and Alkermes. Index. décimale : PER Périodiques Résumé : BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects 90% of individuals with TSC during their lifetime, these manifestations are relatively under-assessed, under-treated and under-researched. We performed a comprehensive scoping review of all TAND research to date (a) to describe the existing TAND research landscape and (b) to identify knowledge gaps to guide future TAND research. METHODS: The study was conducted in accordance with stages outlined within the Arksey and O'Malley scoping review framework. Ten research questions relating to study characteristics, research design and research content of TAND levels and clusters were examined. RESULTS: Of the 2841 returned searches, 230 articles published between 1987 and 2020 were included (animal studies = 30, case studies = 47, cohort studies = 153), with more than half published since the term TAND was coined in 2012 (118/230; 51%). Cohort studies largely involved children and/or adolescents (63%) as opposed to older adults (16%). Studies were represented across 341 individual research sites from 45 countries, the majority from the USA (89/341; 26%) and the UK (50/341; 15%). Only 48 research sites (14%) were within low-middle income countries (LMICs). Animal studies and case studies were of relatively high/high quality, but cohort studies showed significant variability. Of the 153 cohort studies, only 16 (10%) included interventions. None of these were non-pharmacological, and only 13 employed remote methodologies (e.g. telephone interviews, online surveys). Of all TAND clusters, the autism spectrum disorder-like cluster was the most widely researched (138/230; 60%) and the scholastic cluster the least (53/200; 27%). CONCLUSIONS: Despite the recent increase in TAND research, studies that represent participants across the lifespan, LMIC research sites and non-pharmacological interventions were identified as future priorities. The quality of cohort studies requires improvement, to which the use of standardised direct behavioural assessments may contribute. In human studies, the academic level in particular warrants further investigation. Remote technologies could help to address many of the TAND knowledge gaps identified. En ligne : https://dx.doi.org/10.1186/s11689-022-09423-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574