Brief Report: Aggression and Stereotypic Behavior in Males with Fragile X Syndrome—Moderating Secondary Genes in a “Single Gene” Disorder / David HESSL in Journal of Autism and Developmental Disorders, 38-1 (January 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-1 (January 2008) . - p.184-189 Titre : Brief Report: Aggression and Stereotypic Behavior in Males with Fragile X Syndrome—Moderating Secondary Genes in a “Single Gene” Disorder Type de document : Texte imprimé et/ou numérique Auteurs : David HESSL, Auteur ; Randi J. HAGERMAN, Auteur ; Flora TASSONE, Auteur ; Lisa CORDEIRO, Auteur ; Kami KOLDEWYN, Auteur ; Carolyn MCCORMICK, Auteur ; Cherie C. GREEN, Auteur ; Jacob WEGELIN, Auteur ; Jennifer YUHAS, Auteur Année de publication : 2008 Article en page(s) : p.184-189 Langues : Anglais (eng) Mots-clés : Serotonin-transporter Monoamine-oxidase-A Polymorphism 5-HTTLPR - MAOA -FMR1-gene Self-injurious-behavior Index. décimale : PER Périodiques Résumé : Although fragile X syndrome (FXS) is a single gene disorder with a well-described phenotype, it is not known why some individuals develop more significant maladaptive behaviors such as aggression or autistic symptoms. Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8–24 years. Mothers and fathers of participants reported the frequency and severity of aggressive/destructive, self-injurious, and stereotypic behaviors. Polymorphism genotypes were unrelated to age and IQ. Results showed a significant effect of 5-HTTLPR genotype on aggressive/destructive and stereotypic behavior; males with FXS who were homozygous for the high-transcribing long (L/L) genotype had the most aggressive and destructive behavior, and individuals homozygous for the short (S/S) genotype had the least aggression. Those with the L/L genotype also had the highest levels of stereotypic behavior. There was no effect of MAOA-VNTR on behavior; however those with the high-activity, 4-repeat genotype were more likely to be taking SSRI or SNRI medication. This preliminary study prompts consideration of secondary genes that may modify behavioral phenotype expression in neurodevelopmental disorders, even those with a single gene etiology such as FXS. En ligne : http://dx.doi.org/10.1007/s10803-007-0365-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=317 [article] Brief Report: Aggression and Stereotypic Behavior in Males with Fragile X Syndrome—Moderating Secondary Genes in a “Single Gene” Disorder [Texte imprimé et/ou numérique] / David HESSL, Auteur ; Randi J. HAGERMAN, Auteur ; Flora TASSONE, Auteur ; Lisa CORDEIRO, Auteur ; Kami KOLDEWYN, Auteur ; Carolyn MCCORMICK, Auteur ; Cherie C. GREEN, Auteur ; Jacob WEGELIN, Auteur ; Jennifer YUHAS, Auteur . - 2008 . - p.184-189. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-1 (January 2008) . - p.184-189 Mots-clés : Serotonin-transporter Monoamine-oxidase-A Polymorphism 5-HTTLPR - MAOA -FMR1-gene Self-injurious-behavior Index. décimale : PER Périodiques Résumé : Although fragile X syndrome (FXS) is a single gene disorder with a well-described phenotype, it is not known why some individuals develop more significant maladaptive behaviors such as aggression or autistic symptoms. Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8–24 years. Mothers and fathers of participants reported the frequency and severity of aggressive/destructive, self-injurious, and stereotypic behaviors. Polymorphism genotypes were unrelated to age and IQ. Results showed a significant effect of 5-HTTLPR genotype on aggressive/destructive and stereotypic behavior; males with FXS who were homozygous for the high-transcribing long (L/L) genotype had the most aggressive and destructive behavior, and individuals homozygous for the short (S/S) genotype had the least aggression. Those with the L/L genotype also had the highest levels of stereotypic behavior. There was no effect of MAOA-VNTR on behavior; however those with the high-activity, 4-repeat genotype were more likely to be taking SSRI or SNRI medication. This preliminary study prompts consideration of secondary genes that may modify behavioral phenotype expression in neurodevelopmental disorders, even those with a single gene etiology such as FXS. En ligne : http://dx.doi.org/10.1007/s10803-007-0365-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=317

Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome / Jennifer YUHAS in Journal of Autism and Developmental Disorders, 41-2 (February 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-2 (February 2011) . - p.248-253 Titre : Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jennifer YUHAS, Auteur ; Lisa CORDEIRO, Auteur ; Flora TASSONE, Auteur ; Elizabeth C. BALLINGER, Auteur ; Andrea SCHNEIDER, Auteur ; James M. LONG, Auteur ; Edward M. ORNITZ, Auteur ; David HESSL, Auteur Année de publication : 2011 Article en page(s) : p.248-253 Note générale : Article Open Access Langues : Anglais (eng) Mots-clés : PPI  FMR1 gene  Sensorimotor gating  mGluR5  Prepulse inhibition  Startle Index. décimale : PER Périodiques Résumé : Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS−A; n = 17), and idiopathic autism (IA; n = 15). Relative to controls, the FXS+A (p < 0.002) and FXS−A (p < 0.003) groups had impaired PPI. The FXS+A (p < 0.01) and FXS−A (p < 0.03) groups had lower PPI than the IA group. Prolonged startle latency was seen in the IA group. The differing PPI profiles seen in the FXS+A and IA indicates these groups may not share a common neurobiological abnormality of sensorimotor gating. En ligne : http://dx.doi.org/10.1007/s10803-010-1040-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=117 [article] Brief Report: Sensorimotor Gating in Idiopathic Autism and Autism Associated with Fragile X Syndrome [Texte imprimé et/ou numérique] / Jennifer YUHAS, Auteur ; Lisa CORDEIRO, Auteur ; Flora TASSONE, Auteur ; Elizabeth C. BALLINGER, Auteur ; Andrea SCHNEIDER, Auteur ; James M. LONG, Auteur ; Edward M. ORNITZ, Auteur ; David HESSL, Auteur . - 2011 . - p.248-253. Article Open Access Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-2 (February 2011) . - p.248-253 Mots-clés : PPI  FMR1 gene  Sensorimotor gating  mGluR5  Prepulse inhibition  Startle Index. décimale : PER Périodiques Résumé : Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS−A; n = 17), and idiopathic autism (IA; n = 15). Relative to controls, the FXS+A (p < 0.002) and FXS−A (p < 0.003) groups had impaired PPI. The FXS+A (p < 0.01) and FXS−A (p < 0.03) groups had lower PPI than the IA group. Prolonged startle latency was seen in the IA group. The differing PPI profiles seen in the FXS+A and IA indicates these groups may not share a common neurobiological abnormality of sensorimotor gating. En ligne : http://dx.doi.org/10.1007/s10803-010-1040-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=117

Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study / Flora TASSONE in Journal of Autism and Developmental Disorders, 43-3 (March 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.530-539 Titre : Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study Type de document : Texte imprimé et/ou numérique Auteurs : Flora TASSONE, Auteur ; Nimrah S. CHOUDHARY, Auteur ; Federica TASSONE, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; David J. HANSEN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Isaac N. PESSAH, Auteur Article en page(s) : p.530-539 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Developmental delay  Fragile X  Premutation  Screening  CGG Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (200 repeats) in the 5?UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1580-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 [article] Identification of Expanded Alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study [Texte imprimé et/ou numérique] / Flora TASSONE, Auteur ; Nimrah S. CHOUDHARY, Auteur ; Federica TASSONE, Auteur ; Blythe DURBIN-JOHNSON, Auteur ; David J. HANSEN, Auteur ; Irva HERTZ-PICCIOTTO, Auteur ; Isaac N. PESSAH, Auteur . - p.530-539. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-3 (March 2013) . - p.530-539 Mots-clés : Autism spectrum disorder  Developmental delay  Fragile X  Premutation  Screening  CGG Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (200 repeats) in the 5?UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1580-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192

MAOA, DBH, and SLC6A4 variants in CHARGE: a case–control study of autism spectrum disorders / Flora TASSONE in Autism Research, 4-4 (August 2011)  

Public ISBD [article]  inAutism Research > 4-4 (August 2011) . - p.250-261 Titre : MAOA, DBH, and SLC6A4 variants in CHARGE: a case–control study of autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Flora TASSONE, Auteur ; Lihong QI, Auteur ; Wenting ZHANG, Auteur ; David J. HANSEN, Auteur ; Isaac N. PESSAH, Auteur ; Irva HERTZ-PICCIOTTO, Auteur Année de publication : 2011 Article en page(s) : p.250-261 Langues : Anglais (eng) Mots-clés : ASD  polymorphisms  SLC6A4  MAOA  DBH Index. décimale : PER Périodiques Résumé : Genetic factors are established to contribute to the development of autism. We examined three loci, serotonin transporter (SLC6A4), dopamine β-hydroxylase (DBH), and the variable number of tandem repeat promoter of the monoamine oxidase A (MAOA) for association with autism in participants from the Childhood Autism Risks from Genetics and the Environment (CHARGE ) Study, the first large-scale population-based case–control investigation of both environmental and genetic contributions to autism risk. Among male children enrolled in the CHARGE study we tested associations between each of the three polymorphisms and autism (AU) (n = 119), or a combined group of autism and other autism spectrum disorders (AU+ASD, which includes an additional n = 53) as compared with typically developing controls (TD, n = 137). The case–control association analysis showed neither SLC6A4 nor DBH to be statistically significantly associated with AU or ASD. However, the male children carrying 4 tandem repeats in the promoter region of the MAOA gene showed a two-fold higher risk of AU (or AU+ASD) than those carrying allele 3, adjusted for confounders (OR = 2.02, 95% CI = 1.12, 3.65, P = 0.02 for AU vs. TD, and OR = 2.05, 95% CI = 1.19, 3.53, P = 0.01 for ASD vs. TD). In addition, children of mothers homozygous for the 4 tandem repeat allele showed at least a three-fold higher risk of AU (or AU+ASD) than those with mothers homozygous for allele 3 (OR = 3.07, 95% CI = 1.19, 7.91, P = 0.02 for AU vs. TD, and OR = 3.26, 95% CI = 1.35, 7.89, P = 0.009 for AU+ASD vs. TD). These results suggest a potential role of the functional MAOA promoter alleles in the male child, the mother, or both in ASD. En ligne : http://dx.doi.org/10.1002/aur.196 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141 [article] MAOA, DBH, and SLC6A4 variants in CHARGE: a case–control study of autism spectrum disorders [Texte imprimé et/ou numérique] / Flora TASSONE, Auteur ; Lihong QI, Auteur ; Wenting ZHANG, Auteur ; David J. HANSEN, Auteur ; Isaac N. PESSAH, Auteur ; Irva HERTZ-PICCIOTTO, Auteur . - 2011 . - p.250-261. Langues : Anglais (eng) in Autism Research > 4-4 (August 2011) . - p.250-261 Mots-clés : ASD  polymorphisms  SLC6A4  MAOA  DBH Index. décimale : PER Périodiques Résumé : Genetic factors are established to contribute to the development of autism. We examined three loci, serotonin transporter (SLC6A4), dopamine β-hydroxylase (DBH), and the variable number of tandem repeat promoter of the monoamine oxidase A (MAOA) for association with autism in participants from the Childhood Autism Risks from Genetics and the Environment (CHARGE ) Study, the first large-scale population-based case–control investigation of both environmental and genetic contributions to autism risk. Among male children enrolled in the CHARGE study we tested associations between each of the three polymorphisms and autism (AU) (n = 119), or a combined group of autism and other autism spectrum disorders (AU+ASD, which includes an additional n = 53) as compared with typically developing controls (TD, n = 137). The case–control association analysis showed neither SLC6A4 nor DBH to be statistically significantly associated with AU or ASD. However, the male children carrying 4 tandem repeats in the promoter region of the MAOA gene showed a two-fold higher risk of AU (or AU+ASD) than those carrying allele 3, adjusted for confounders (OR = 2.02, 95% CI = 1.12, 3.65, P = 0.02 for AU vs. TD, and OR = 2.05, 95% CI = 1.19, 3.53, P = 0.01 for ASD vs. TD). In addition, children of mothers homozygous for the 4 tandem repeat allele showed at least a three-fold higher risk of AU (or AU+ASD) than those with mothers homozygous for allele 3 (OR = 3.07, 95% CI = 1.19, 7.91, P = 0.02 for AU vs. TD, and OR = 3.26, 95% CI = 1.35, 7.89, P = 0.009 for AU+ASD vs. TD). These results suggest a potential role of the functional MAOA promoter alleles in the male child, the mother, or both in ASD. En ligne : http://dx.doi.org/10.1002/aur.196 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141

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

---

1 (1 - 5 / 5)