Fragile X: A Family of Disorders / Ann M. MASTERGEORGE

Public ISBD in Cognitive and Behavioral Abnormalities of Pediatric Diseases / Ruth D. NASS Titre : Fragile X: A Family of Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Ann M. MASTERGEORGE, Auteur ; Jacky W. AU, Auteur ; Randi J. HAGERMAN, Auteur Année de publication : 2010 Importance : p.170-187 Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=239 in Cognitive and Behavioral Abnormalities of Pediatric Diseases / Ruth D. NASS Fragile X: A Family of Disorders [Texte imprimé et/ou numérique] / Ann M. MASTERGEORGE, Auteur ; Jacky W. AU, Auteur ; Randi J. HAGERMAN, Auteur . - 2010 . - p.170-187. Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=239

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Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome / Claudia M. GRECO in Molecular Autism, (February 2011)  

Public ISBD [article]  inMolecular Autism > (February 2011) . - 13 p. Titre : Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Claudia M. GRECO, Auteur ; Celestine S. NAVARRO, Auteur ; Michael R. HUNSAKER, Auteur ; Izumi MAEZAWA, Auteur ; John F. SHULER, Auteur ; Flora TASSONE, Auteur ; Mary DELANY, Auteur ; Jacky W. AU, Auteur ; Robert F. BERMAN, Auteur ; Lee-Way JIN, Auteur ; Cynthia M. SCHUMANN, Auteur ; Paul J. HAGERMAN, Auteur ; Randi J. HAGERMAN, Auteur Année de publication : 2011 Article en page(s) : 13 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the most common single-gene disorder known to be associated with autism. Despite recent advances in functional neuroimaging and our understanding of the molecular pathogenesis, only limited neuropathologic information on FXS is available. Methods Neuropathologic examinations were performed on post-mortem brain tissue from three older men (aged 57, 64 and 78 years) who had received a clinical or genetic diagnosis of FXS. In each case, physical and cognitive features were typical of FXS, and one man was also diagnosed with autism. Guided by reports of clinical and neuroimaging abnormalities of the limbic system and cerebellum of individuals with FXS, the current analysis focused on neuropathologic features present in the hippocampus and the cerebellar vermis. Results Histologic and immunologic staining revealed abnormalities in both the hippocampus and cerebellar vermis. Focal thickening of hippocampal CA1 and irregularities in the appearance of the dentate gyrus were identified. All lobules of the cerebellar vermis and the lateral cortex of the posterior lobe of the cerebellum had decreased numbers of Purkinje cells, which were occasionally misplaced, and often lacked proper orientation. There were mild, albeit excessive, undulations of the internal granular cell layer, with patchy foliar white matter axonal and astrocytic abnormalities. Quantitative analysis documented panfoliar atrophy of both the anterior and posterior lobes of the vermis, with preferential atrophy of the posterior lobule (VI to VII) compared with age-matched normal controls. Conclusions Significant morphologic changes in the hippocampus and cerebellum in three adult men with FXS were identified. This pattern of pathologic features supports the idea that primary defects in neuronal migration, neurogenesis and aging may underlie the neuropathology reported in FXS. En ligne : http://dx.doi.org/10.1186/2040-2392-2-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121 [article] Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome [Texte imprimé et/ou numérique] / Claudia M. GRECO, Auteur ; Celestine S. NAVARRO, Auteur ; Michael R. HUNSAKER, Auteur ; Izumi MAEZAWA, Auteur ; John F. SHULER, Auteur ; Flora TASSONE, Auteur ; Mary DELANY, Auteur ; Jacky W. AU, Auteur ; Robert F. BERMAN, Auteur ; Lee-Way JIN, Auteur ; Cynthia M. SCHUMANN, Auteur ; Paul J. HAGERMAN, Auteur ; Randi J. HAGERMAN, Auteur . - 2011 . - 13 p. Langues : Anglais (eng) in Molecular Autism > (February 2011) . - 13 p. Index. décimale : PER Périodiques Résumé : Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the most common single-gene disorder known to be associated with autism. Despite recent advances in functional neuroimaging and our understanding of the molecular pathogenesis, only limited neuropathologic information on FXS is available. Methods Neuropathologic examinations were performed on post-mortem brain tissue from three older men (aged 57, 64 and 78 years) who had received a clinical or genetic diagnosis of FXS. In each case, physical and cognitive features were typical of FXS, and one man was also diagnosed with autism. Guided by reports of clinical and neuroimaging abnormalities of the limbic system and cerebellum of individuals with FXS, the current analysis focused on neuropathologic features present in the hippocampus and the cerebellar vermis. Results Histologic and immunologic staining revealed abnormalities in both the hippocampus and cerebellar vermis. Focal thickening of hippocampal CA1 and irregularities in the appearance of the dentate gyrus were identified. All lobules of the cerebellar vermis and the lateral cortex of the posterior lobe of the cerebellum had decreased numbers of Purkinje cells, which were occasionally misplaced, and often lacked proper orientation. There were mild, albeit excessive, undulations of the internal granular cell layer, with patchy foliar white matter axonal and astrocytic abnormalities. Quantitative analysis documented panfoliar atrophy of both the anterior and posterior lobes of the vermis, with preferential atrophy of the posterior lobule (VI to VII) compared with age-matched normal controls. Conclusions Significant morphologic changes in the hippocampus and cerebellum in three adult men with FXS were identified. This pattern of pathologic features supports the idea that primary defects in neuronal migration, neurogenesis and aging may underlie the neuropathology reported in FXS. En ligne : http://dx.doi.org/10.1186/2040-2392-2-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121

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 et/ou numérique 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 et/ou numérique] / 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

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