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 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] / 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 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] / 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

Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization / Lisa CORDEIRO in Journal of Neurodevelopmental Disorders, 3-1 (March 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.57-67 Titre : Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization Type de document : texte imprimé Auteurs : Lisa CORDEIRO, Auteur ; Elizabeth C. BALLINGER, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur Article en page(s) : p.57-67 Langues : Anglais (eng) Mots-clés : Anxiety  Fragile X syndrome  Intellectual disability  Social phobia  Specific phobia Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Anxiety and social withdrawal are considered core features of the FXS phenotype, yet there is limited diagnostic evidence of the prevalence of formal anxiety disorders in FXS. This study assessed the prevalence of anxiety disorders in a sample of 58 males and 39 females with FXS (ages 5.0-33.3 years). Participants' parents completed the Anxiety Disorders Interview Schedule (ADIS-IV), a clinical interview based on DSM-IV criteria, and the Anxiety Depression and Mood Scale (ADAMS), a psychiatric disorders screening instrument normed in ID. We conducted cognitive (IQ) and autism (AUT) assessments and surveyed medication use. Despite a high rate of psychopharmacological treatment, 86.2% of males and 76.9% of females met criteria for an anxiety disorder, with social phobia and specific phobia the most commonly diagnosed. Proband status, gender, and IQ were not significantly related to any anxiety disorders, however significantly higher rates of a few anxiety disorders were found in older age and AUT groups. Significant correlations between ADIS diagnoses and ADAMS scores provided cross-validation of instruments, indicating that the ADIS is suitable for use in FXS. A greater percentage of our sample met criteria for most anxiety disorders than has been reported in other ID groups or the general population. The rate of anxiety compared to general ID suggests that the FMR1 full mutation confers an especially high risk for these disorders, regardless of factors commonly associated with FXS clinical involvement. A thorough clinical assessment and treatment of anxiety should be included in the FXS standard of care. En ligne : http://dx.doi.org/10.1007/s11689-010-9067-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization [texte imprimé] / Lisa CORDEIRO, Auteur ; Elizabeth C. BALLINGER, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur . - p.57-67. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.57-67 Mots-clés : Anxiety  Fragile X syndrome  Intellectual disability  Social phobia  Specific phobia Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Anxiety and social withdrawal are considered core features of the FXS phenotype, yet there is limited diagnostic evidence of the prevalence of formal anxiety disorders in FXS. This study assessed the prevalence of anxiety disorders in a sample of 58 males and 39 females with FXS (ages 5.0-33.3 years). Participants' parents completed the Anxiety Disorders Interview Schedule (ADIS-IV), a clinical interview based on DSM-IV criteria, and the Anxiety Depression and Mood Scale (ADAMS), a psychiatric disorders screening instrument normed in ID. We conducted cognitive (IQ) and autism (AUT) assessments and surveyed medication use. Despite a high rate of psychopharmacological treatment, 86.2% of males and 76.9% of females met criteria for an anxiety disorder, with social phobia and specific phobia the most commonly diagnosed. Proband status, gender, and IQ were not significantly related to any anxiety disorders, however significantly higher rates of a few anxiety disorders were found in older age and AUT groups. Significant correlations between ADIS diagnoses and ADAMS scores provided cross-validation of instruments, indicating that the ADIS is suitable for use in FXS. A greater percentage of our sample met criteria for most anxiety disorders than has been reported in other ID groups or the general population. The rate of anxiety compared to general ID suggests that the FMR1 full mutation confers an especially high risk for these disorders, regardless of factors commonly associated with FXS clinical involvement. A thorough clinical assessment and treatment of anxiety should be included in the FXS standard of care. En ligne : http://dx.doi.org/10.1007/s11689-010-9067-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD) / Nienke BOUW in Journal of Autism and Developmental Disorders, 53-8 (August 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.3194-3207 Titre : Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD) Type de document : texte imprimé Auteurs : Nienke BOUW, Auteur ; Hanna SWAAB, Auteur ; Nicole TARTAGLIA, Auteur ; Lisa CORDEIRO, Auteur ; Sophie VAN RIJN, Auteur Article en page(s) : p.3194-3207 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) have an increased vulnerability for developing challenges in social adaptive functioning. The present study investigates social interaction behavior in the context of varying social load, and Autism Spectrum Disorder (ASD) symptomatology in young children aged 1-7.5 years old, with SCT (N 105) and control children (N 101). Children with SCT show less interaction behaviors and more social withdrawal, as compared to their control peers, which were most evident in the high social load condition. Second, social impairments related to ASD are more prevalent, as compared to controls (27.1% at clinical level). These findings stress the importance of early monitoring and (preventive) support of early social development in young children with SCT. En ligne : https://doi.org/10.1007/s10803-022-05553-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508 [article] Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD) [texte imprimé] / Nienke BOUW, Auteur ; Hanna SWAAB, Auteur ; Nicole TARTAGLIA, Auteur ; Lisa CORDEIRO, Auteur ; Sophie VAN RIJN, Auteur . - p.3194-3207. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-8 (August 2023) . - p.3194-3207 Index. décimale : PER Périodiques Résumé : Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) have an increased vulnerability for developing challenges in social adaptive functioning. The present study investigates social interaction behavior in the context of varying social load, and Autism Spectrum Disorder (ASD) symptomatology in young children aged 1-7.5 years old, with SCT (N 105) and control children (N 101). Children with SCT show less interaction behaviors and more social withdrawal, as compared to their control peers, which were most evident in the high social load condition. Second, social impairments related to ASD are more prevalent, as compared to controls (27.1% at clinical level). These findings stress the importance of early monitoring and (preventive) support of early social development in young children with SCT. En ligne : https://doi.org/10.1007/s10803-022-05553-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508

Emotion Potentiated Startle in Fragile X Syndrome / Elizabeth C. BALLINGER in Journal of Autism and Developmental Disorders, 44-10 (October 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2536-2546 Titre : Emotion Potentiated Startle in Fragile X Syndrome Type de document : texte imprimé Auteurs : Elizabeth C. BALLINGER, Auteur ; Lisa CORDEIRO, Auteur ; Alyssa D. CHAVEZ, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur Article en page(s) : p.2536-2546 Langues : Anglais (eng) Mots-clés : Fragile X syndrome  Social anxiety  Amygdala  Startle  Autism Index. décimale : PER Périodiques Résumé : Social avoidance and anxiety are prevalent in fragile X syndrome (FXS) and are potentially mediated by the amygdala, a brain region critical for social behavior. Unfortunately, functional brain resonance imaging investigation of the amygdala in FXS is limited by the difficulties experienced by intellectually impaired and anxious participants. We investigated the relationship between social avoidance and emotion-potentiated startle, a probe of amygdala activation, in children and adolescents with FXS, developmental disability without FXS (DD), and typical development. Individuals with FXS or DD demonstrated significantly reduced potentiation to fearful faces than a typically developing control group (p .05). However, among individuals with FXS, social avoidance correlated positively with fearful-face potentiation (p .05). This suggests that general intellectual disability blunts amygdalar response, but differential amygdala responsiveness to social stimuli contributes to phenotypic variability among individuals with FXS. En ligne : http://dx.doi.org/10.1007/s10803-014-2125-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240 [article] Emotion Potentiated Startle in Fragile X Syndrome [texte imprimé] / Elizabeth C. BALLINGER, Auteur ; Lisa CORDEIRO, Auteur ; Alyssa D. CHAVEZ, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur . - p.2536-2546. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2536-2546 Mots-clés : Fragile X syndrome  Social anxiety  Amygdala  Startle  Autism Index. décimale : PER Périodiques Résumé : Social avoidance and anxiety are prevalent in fragile X syndrome (FXS) and are potentially mediated by the amygdala, a brain region critical for social behavior. Unfortunately, functional brain resonance imaging investigation of the amygdala in FXS is limited by the difficulties experienced by intellectually impaired and anxious participants. We investigated the relationship between social avoidance and emotion-potentiated startle, a probe of amygdala activation, in children and adolescents with FXS, developmental disability without FXS (DD), and typical development. Individuals with FXS or DD demonstrated significantly reduced potentiation to fearful faces than a typically developing control group (p .05). However, among individuals with FXS, social avoidance correlated positively with fearful-face potentiation (p .05). This suggests that general intellectual disability blunts amygdalar response, but differential amygdala responsiveness to social stimuli contributes to phenotypic variability among individuals with FXS. En ligne : http://dx.doi.org/10.1007/s10803-014-2125-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240

The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study / Nienke BOUW in Journal of Neurodevelopmental Disorders, 14 (2022)  

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