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

Brief Report: Visual Processing of Faces in Individuals with Fragile X Syndrome: An Eye Tracking Study / Faraz FARZIN in Journal of Autism and Developmental Disorders, 39-6 (June 2009)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 39-6 (June 2009) . - p.946-952 Titre : Brief Report: Visual Processing of Faces in Individuals with Fragile X Syndrome: An Eye Tracking Study Type de document : Texte imprimé et/ou numérique Auteurs : Faraz FARZIN, Auteur ; David HESSL, Auteur ; Susan M. RIVERA, Auteur Année de publication : 2009 Article en page(s) : p.946-952 Langues : Anglais (eng) Mots-clés : Face-processing Fragile-X-syndrome FMR1-gene Eye-tracking Pupil-reactivity Index. décimale : PER Périodiques Résumé : Gaze avoidance is a hallmark behavioral feature of fragile X syndrome (FXS), but little is known about whether abnormalities in the visual processing of faces, including disrupted autonomic reactivity, may underlie this behavior. Eye tracking was used to record fixations and pupil diameter while adolescents and young adults with FXS and sex- and age-matched typically developing controls passively viewed photographs of faces containing either a calm, happy, or fearful expression, preceded by a scrambled face matched on luminance. Results provide quantitative evidence for significant differences in gaze patterns and increased pupillary reactivity when individuals with FXS passively view static faces. Such abnormalities have significant implications in terms of understanding causes of gaze avoidance observed in individuals with FXS. En ligne : http://dx.doi.org/10.1007/s10803-009-0744-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=759 [article] Brief Report: Visual Processing of Faces in Individuals with Fragile X Syndrome: An Eye Tracking Study [Texte imprimé et/ou numérique] / Faraz FARZIN, Auteur ; David HESSL, Auteur ; Susan M. RIVERA, Auteur . - 2009 . - p.946-952. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 39-6 (June 2009) . - p.946-952 Mots-clés : Face-processing Fragile-X-syndrome FMR1-gene Eye-tracking Pupil-reactivity Index. décimale : PER Périodiques Résumé : Gaze avoidance is a hallmark behavioral feature of fragile X syndrome (FXS), but little is known about whether abnormalities in the visual processing of faces, including disrupted autonomic reactivity, may underlie this behavior. Eye tracking was used to record fixations and pupil diameter while adolescents and young adults with FXS and sex- and age-matched typically developing controls passively viewed photographs of faces containing either a calm, happy, or fearful expression, preceded by a scrambled face matched on luminance. Results provide quantitative evidence for significant differences in gaze patterns and increased pupillary reactivity when individuals with FXS passively view static faces. Such abnormalities have significant implications in terms of understanding causes of gaze avoidance observed in individuals with FXS. En ligne : http://dx.doi.org/10.1007/s10803-009-0744-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=759

Electrodermal and Behavioral Responses of Children With Autism Spectrum Disorders to Sensory and Repetitive Stimuli / Carolyn MCCORMICK in Autism Research, 7-4 (August 2014)  

Public ISBD [article]  inAutism Research > 7-4 (August 2014) . - p.468-480 Titre : Electrodermal and Behavioral Responses of Children With Autism Spectrum Disorders to Sensory and Repetitive Stimuli Type de document : Texte imprimé et/ou numérique Auteurs : Carolyn MCCORMICK, Auteur ; David HESSL, Auteur ; Suzanne L. MACARI, Auteur ; Sally OZONOFF, Auteur ; Cherie C. GREEN, Auteur ; Sally J ROGERS, Auteur Année de publication : 2014 Article en page(s) : p.468-480 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  psychophysiology  sensory  repetitive behaviors Index. décimale : PER Périodiques Résumé : Parents frequently report that their children with autism spectrum disorders (ASD) respond atypically to sensory stimuli. Repetitive behaviors are also part of the ASD behavioral profile. Abnormal physiological arousal may underlie both of these symptoms. Electrodermal activity (EDA) is an index of sympathetic nervous system arousal. The goals of this study were twofold: (1) to pilot methods for collecting EDA data in young children and (2) to examine hypothesized relationships among EDA, and sensory symptoms and repetitive behaviors in children with ASD as compared with children with typical development. EDA was recorded on 54 young children with ASD and on 33 children with typical development (TD) during a protocol that included baseline, exposure to sensory and repetitive stimuli, and play. Parents completed standardized questionnaires regarding their child's sensory symptoms and repetitive behaviors. Frequency and type of repetitive behavior during play was coded offline. Comparisons between EDA data for ASD and TD groups indicated no significant between-group differences in any measures. Parents of children with ASD reported more abnormal responses to sensory stimuli and more repetitive behaviors, but scores on these measures were not significantly correlated with EDA or with frequency of observed repetitive behaviors. Parent report of frequency and severity of sensory symptoms was significantly correlated with reports of repetitive behaviors in both groups. Although parents of children with ASD report high levels of sensory symptoms and repetitive behaviors, these differences are not related to measured EDA arousal or reactivity. En ligne : http://dx.doi.org/10.1002/aur.1382 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=238 [article] Electrodermal and Behavioral Responses of Children With Autism Spectrum Disorders to Sensory and Repetitive Stimuli [Texte imprimé et/ou numérique] / Carolyn MCCORMICK, Auteur ; David HESSL, Auteur ; Suzanne L. MACARI, Auteur ; Sally OZONOFF, Auteur ; Cherie C. GREEN, Auteur ; Sally J ROGERS, Auteur . - 2014 . - p.468-480. Langues : Anglais (eng) in Autism Research > 7-4 (August 2014) . - p.468-480 Mots-clés : autism spectrum disorder  psychophysiology  sensory  repetitive behaviors Index. décimale : PER Périodiques Résumé : Parents frequently report that their children with autism spectrum disorders (ASD) respond atypically to sensory stimuli. Repetitive behaviors are also part of the ASD behavioral profile. Abnormal physiological arousal may underlie both of these symptoms. Electrodermal activity (EDA) is an index of sympathetic nervous system arousal. The goals of this study were twofold: (1) to pilot methods for collecting EDA data in young children and (2) to examine hypothesized relationships among EDA, and sensory symptoms and repetitive behaviors in children with ASD as compared with children with typical development. EDA was recorded on 54 young children with ASD and on 33 children with typical development (TD) during a protocol that included baseline, exposure to sensory and repetitive stimuli, and play. Parents completed standardized questionnaires regarding their child's sensory symptoms and repetitive behaviors. Frequency and type of repetitive behavior during play was coded offline. Comparisons between EDA data for ASD and TD groups indicated no significant between-group differences in any measures. Parents of children with ASD reported more abnormal responses to sensory stimuli and more repetitive behaviors, but scores on these measures were not significantly correlated with EDA or with frequency of observed repetitive behaviors. Parent report of frequency and severity of sensory symptoms was significantly correlated with reports of repetitive behaviors in both groups. Although parents of children with ASD report high levels of sensory symptoms and repetitive behaviors, these differences are not related to measured EDA arousal or reactivity. En ligne : http://dx.doi.org/10.1002/aur.1382 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=238

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 et/ou numérique 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 et/ou numérique] / 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

Fear Potentiated Startle in Children With Autism Spectrum Disorder: Association With Anxiety Symptoms and Amygdala Volume / David HESSL in Autism Research, 14-3 (March 2021)  

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Fragile X syndrome / Mary Jacena S. LEIGH

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Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome / Melissa RASPA ; Carla M. BANN ; Julia M. GABLE ; Holly K. HARRIS ; Dejan B. BUDIMIROVIC ; Reymundo LOZANO ; Elizabeth BERRY-KRAVIS ; Milen VELINOV ; Amy L. TALBOY ; Stephanie L. SHERMAN ; Walter E. KAUFMANN ; Marcy SCHUSTER ; Nicole TARTAGLIA ; Robyn A. FILIPINK ; Dejan B. BUDIMIROVIC ; Deborah BARBOUTH ; Amy LIGHTBODY ; Allan REISS ; Carol M. DELAHUNTY ; Randi J. HAGERMAN ; David HESSL ; Craig A. ERICKSON ; Gary FELDMAN ; Jonathan D. PICKER ; Ave M. LACHIEWICZ ; Holly K. HARRIS ; Amy ESLER ; Richard E. FRYE ; Patricia A. EVANS ; Mary Ann MORRIS ; Barbara A. HAAS-GIVLER ; Andrea L. GROPMAN ; Ryan S. UY ; Carrie BUCHANAN ; Jean A. FRAZIER ; Stephanie M. MORRIS ; Forward CONSORTIUM in Journal of Autism and Developmental Disorders, 54-2 (February 2024)  

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Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment / Stephanie M. SANSONE in Journal of Autism and Developmental Disorders, 42-7 (July 2012)  

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Reliability of Eye Tracking and Pupillometry Measures in Individuals with Fragile X Syndrome / Faraz FARZIN in Journal of Autism and Developmental Disorders, 41-11 (November 2011)  

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Social behavior and cortisol reactivity in children with fragile X syndrome / David HESSL in Journal of Child Psychology and Psychiatry, 47-6 (June 2006)  

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Using the NIH Toolbox to Assess Cognition in Adolescents and Young Adults with Autism Spectrum Disorders / Marjorie SOLOMON in Autism Research, 14-3 (March 2021)  

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