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Détail de l'auteur
Auteur N. TARTAGLIA |
Documents disponibles écrits par cet auteur (2)
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[article]
Titre : Aging in fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : A. UTARI, Auteur ; E. ADAMS, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Alyssa D. CHAVEZ, Auteur ; F. SCAGGS, Auteur ; L. NGOTRAN, Auteur ; A. BOYD, Auteur ; D. HESSL, Auteur ; L. W. GANE, Auteur ; F. TASSONE, Auteur ; N. TARTAGLIA, Auteur ; M. A. LEEHEY, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.70-76 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women with the premutation, intensified the need for aging studies in FXS. Approximately 40% of males with FXS have repeat size mosaicism and as a result, some of these individuals also have elevated levels of FMR1-mRNA which theoretically puts them at risk for FXTAS. Here, we have surveyed all of the aging patients with FXS that we have followed over the years to clarify the medical complications of aging seen in those with FXS. Data was collected from 62 individuals with the FXS full mutation (44 males; 18 females) who were at least 40 years old at their most recent clinical examination. We found that the five most frequent medical problems in these patients were neurological problems (38.7%), gastrointestinal problems (30.6%), obesity (28.8%), hypertension (24.2%) and heart problems (24.2%). Movement disorders were significantly different between males and females (38.6% vs.10.2%, p = 0.029). We did not find any differences in medical problems between those with a full mutation and those with mosaicism. Identification of medical problems associated with aging in FXS is important to establish appropriate recommendations for medical screening and treatment considerations. En ligne : http://dx.doi.org/10.1007/s11689-010-9047-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342
in Journal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.70-76[article] Aging in fragile X syndrome [Texte imprimé et/ou numérique] / A. UTARI, Auteur ; E. ADAMS, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Alyssa D. CHAVEZ, Auteur ; F. SCAGGS, Auteur ; L. NGOTRAN, Auteur ; A. BOYD, Auteur ; D. HESSL, Auteur ; L. W. GANE, Auteur ; F. TASSONE, Auteur ; N. TARTAGLIA, Auteur ; M. A. LEEHEY, Auteur ; Randi J. HAGERMAN, Auteur . - p.70-76.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.70-76
Index. décimale : PER Périodiques Résumé : Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women with the premutation, intensified the need for aging studies in FXS. Approximately 40% of males with FXS have repeat size mosaicism and as a result, some of these individuals also have elevated levels of FMR1-mRNA which theoretically puts them at risk for FXTAS. Here, we have surveyed all of the aging patients with FXS that we have followed over the years to clarify the medical complications of aging seen in those with FXS. Data was collected from 62 individuals with the FXS full mutation (44 males; 18 females) who were at least 40 years old at their most recent clinical examination. We found that the five most frequent medical problems in these patients were neurological problems (38.7%), gastrointestinal problems (30.6%), obesity (28.8%), hypertension (24.2%) and heart problems (24.2%). Movement disorders were significantly different between males and females (38.6% vs.10.2%, p = 0.029). We did not find any differences in medical problems between those with a full mutation and those with mosaicism. Identification of medical problems associated with aging in FXS is important to establish appropriate recommendations for medical screening and treatment considerations. En ligne : http://dx.doi.org/10.1007/s11689-010-9047-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis / E. M. ECKERT in Journal of Autism and Developmental Disorders, 49-11 (November 2019)
[article]
Titre : Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis Type de document : Texte imprimé et/ou numérique Auteurs : E. M. ECKERT, Auteur ; K. C. DOMINICK, Auteur ; Ernest V. PEDAPATI, Auteur ; L. K. WINK, Auteur ; R. C. SHAFFER, Auteur ; H. ANDREWS, Auteur ; Tse-Hwei CHOO, Auteur ; C. CHEN, Auteur ; W. E. KAUFMANN, Auteur ; N. TARTAGLIA, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; C. A. ERICKSON, Auteur Article en page(s) : p.4595-4602 Langues : Anglais (eng) Mots-clés : Fragile X syndrome Irritability Pharmacotherapy Index. décimale : PER Périodiques Résumé : Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS, individuals with FXS receiving drug treatment of IAAS were older, more predominantly male, have more significant intellectual disability, more like to have comorbid autism, hyperarousal, and social impairments. The most commonly utilized medications for IAAS in FXS are antipsychotic medications, specifically aripiprazole and risperidone (37% and 27%, respectively). The majority of subjects (63%) experienced no side effects noted from the use of their psychopharmacologic medications. En ligne : http://dx.doi.org/10.1007/s10803-019-04173-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408
in Journal of Autism and Developmental Disorders > 49-11 (November 2019) . - p.4595-4602[article] Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis [Texte imprimé et/ou numérique] / E. M. ECKERT, Auteur ; K. C. DOMINICK, Auteur ; Ernest V. PEDAPATI, Auteur ; L. K. WINK, Auteur ; R. C. SHAFFER, Auteur ; H. ANDREWS, Auteur ; Tse-Hwei CHOO, Auteur ; C. CHEN, Auteur ; W. E. KAUFMANN, Auteur ; N. TARTAGLIA, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; C. A. ERICKSON, Auteur . - p.4595-4602.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-11 (November 2019) . - p.4595-4602
Mots-clés : Fragile X syndrome Irritability Pharmacotherapy Index. décimale : PER Périodiques Résumé : Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS, individuals with FXS receiving drug treatment of IAAS were older, more predominantly male, have more significant intellectual disability, more like to have comorbid autism, hyperarousal, and social impairments. The most commonly utilized medications for IAAS in FXS are antipsychotic medications, specifically aripiprazole and risperidone (37% and 27%, respectively). The majority of subjects (63%) experienced no side effects noted from the use of their psychopharmacologic medications. En ligne : http://dx.doi.org/10.1007/s10803-019-04173-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408