Aging in fragile X syndrome / Agustini UTARI in Journal of Neurodevelopmental Disorders, 2-2 (June 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.70-76 Titre : Aging in fragile X syndrome Type de document : texte imprimé Auteurs : Agustini UTARI, Auteur ; Evan ADAMS, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Alyssa D. CHAVEZ, Auteur ; Felicia SCAGGS, Auteur ; Lily NGOTRAN, Auteur ; Antoniya BOYD, Auteur ; David HESSL, Auteur ; Louise W. GANE, Auteur ; Flora TASSONE, Auteur ; Nicole TARTAGLIA, Auteur ; Maureen 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 [article] Aging in fragile X syndrome [texte imprimé] / Agustini UTARI, Auteur ; Evan ADAMS, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Alyssa D. CHAVEZ, Auteur ; Felicia SCAGGS, Auteur ; Lily NGOTRAN, Auteur ; Antoniya BOYD, Auteur ; David HESSL, Auteur ; Louise W. GANE, Auteur ; Flora TASSONE, Auteur ; Nicole TARTAGLIA, Auteur ; Maureen 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

Sertraline May Improve Language Developmental Trajectory in Young Children with Fragile X Syndrome: A Retrospective Chart Review / Tri Indah WINARNI in Autism Research and Treatment, (March 2012)  

Public ISBD [article]  inAutism Research and Treatment > (March 2012) . - 8 p. Titre : Sertraline May Improve Language Developmental Trajectory in Young Children with Fragile X Syndrome: A Retrospective Chart Review Type de document : texte imprimé Auteurs : Tri Indah WINARNI, Auteur ; Weerasak CHONCHAIYA, Auteur ; Evan ADAMS, Auteur ; Jacky W. AU, Auteur ; Yi MU, Auteur ; Susan M. RIVERA, Auteur ; Danh V. NGUYEN, Auteur ; Randi J. HAGERMAN, Auteur Année de publication : 2012 Article en page(s) : 8 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Young children with fragile X syndrome (FXS) often experience anxiety, irritability, and hyperactivity related to sensory hyperarousal. However, there are no medication recommendations with documented efficacy for children under 5 years old of age with FXS. We examined data through a chart review for 45 children with FXS, 12–50 months old, using the Mullen Scales of Early Learning (MSEL) for baseline and longitudinal assessments. All children had clinical level of anxiety, language delays based on MSEL scores, and similar early learning composite (ELC) scores at their first visit to our clinic. Incidence of autism spectrum disorder (ASD) was similar in both groups. There were 11 children who were treated with sertraline, and these patients were retrospectively compared to 34 children who were not treated with sertraline by chart review. The baseline assessments were done at ages ranging from 18 to 44 months (mean 26.9, SD 7.99) and from 12 to 50 months (mean 29.94, SD 8.64) for treated and not treated groups, respectively. Mean rate of improvement in both expressive and receptive language development was significantly higher in the group who was treated with sertraline ( �� < 0 . 0 0 0 1 and �� = 0 . 0 0 7 1 , resp.). This data supports the need for a controlled trial of sertraline treatment in young children with FXS. En ligne : http://dx.doi.org/10.1155/2012/104317 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 [article] Sertraline May Improve Language Developmental Trajectory in Young Children with Fragile X Syndrome: A Retrospective Chart Review [texte imprimé] / Tri Indah WINARNI, Auteur ; Weerasak CHONCHAIYA, Auteur ; Evan ADAMS, Auteur ; Jacky W. AU, Auteur ; Yi MU, Auteur ; Susan M. RIVERA, Auteur ; Danh V. NGUYEN, Auteur ; Randi J. HAGERMAN, Auteur . - 2012 . - 8 p. Langues : Anglais (eng) in Autism Research and Treatment > (March 2012) . - 8 p. Index. décimale : PER Périodiques Résumé : Young children with fragile X syndrome (FXS) often experience anxiety, irritability, and hyperactivity related to sensory hyperarousal. However, there are no medication recommendations with documented efficacy for children under 5 years old of age with FXS. We examined data through a chart review for 45 children with FXS, 12–50 months old, using the Mullen Scales of Early Learning (MSEL) for baseline and longitudinal assessments. All children had clinical level of anxiety, language delays based on MSEL scores, and similar early learning composite (ELC) scores at their first visit to our clinic. Incidence of autism spectrum disorder (ASD) was similar in both groups. There were 11 children who were treated with sertraline, and these patients were retrospectively compared to 34 children who were not treated with sertraline by chart review. The baseline assessments were done at ages ranging from 18 to 44 months (mean 26.9, SD 7.99) and from 12 to 50 months (mean 29.94, SD 8.64) for treated and not treated groups, respectively. Mean rate of improvement in both expressive and receptive language development was significantly higher in the group who was treated with sertraline ( �� < 0 . 0 0 0 1 and �� = 0 . 0 0 7 1 , resp.). This data supports the need for a controlled trial of sertraline treatment in young children with FXS. En ligne : http://dx.doi.org/10.1155/2012/104317 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178

---

1 (1 - 2 / 2) Par page : 25 50 100 200