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

Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome / Mélodie PROTEAU-LEMIEUX in Autism Research, 19-3 (March 2026)  

Public ISBD [article]  inAutism Research > 19-3 (March 2026) . - e70194 Titre : Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome Type de document : texte imprimé Auteurs : Mélodie PROTEAU-LEMIEUX, Auteur ; Inga S. KNOTH, Auteur ; Saeideh DAVOUDI, Auteur ; Rae BUCKSER, Auteur ; Charles-Olivier MARTIN, Auteur ; Anne-Marie BÉLANGER, Auteur ; Valérie K. FONTAINE, Auteur ; Hazel Maridith Barlahan BIAG, Auteur ; Leonard ABBEDUTO, Auteur ; Sébastien JACQUEMONT, Auteur ; David HESSL, Auteur ; Randi J. HAGERMAN, Auteur ; Andrea SCHNEIDER, Auteur ; Francois V. BOLDUC, Auteur ; Sarah LIPPE, Auteur Article en page(s) : e70194 Langues : Anglais (eng) Mots-clés : behavior  cognition  EEG  fragile X syndrome  PSD  resting state  signal complexity Index. décimale : PER Périodiques Résumé : ABSTRACT Fragile X Syndrome (FXS), an X-linked genetic condition, is associated with a wide range of phenotypic manifestations, namely intellectual disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and atypical behaviors. Individuals with FXS present robust electrophysiological (EEG) alterations, notably on signal complexity and power spectral density (PSD) resting state measures. To which extent they are associated to specific behavioral phenotypes in the FXS population remains to be comprehensively addressed. This study aimed to investigate the relations between resting state EEG markers and the most frequently observed symptoms in FXS. EEG and behavioral data from 41 individuals with FXS aged between 7 and 34?years old were collected, and correlational approaches were used to analyze the associations between EEG markers and symptomatology. We observed positive associations between complexity in higher scales and non-verbal intelligence quotient (NVIQ). Reduced alpha power, a robust biomarker in FXS, was associated with more social avoidance, a hallmark in FXS. Decreased high gamma power was linked to hyperactive symptoms. Our results suggest powerful relations between known biomarkers and core symptoms in FXS, highlighting that EEG biomarkers correspond to symptom severity which further supports their potential as objective, translational treatment outcome measures. En ligne : https://doi.org/10.1002/aur.70194 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=583 [article] Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome [texte imprimé] / Mélodie PROTEAU-LEMIEUX, Auteur ; Inga S. KNOTH, Auteur ; Saeideh DAVOUDI, Auteur ; Rae BUCKSER, Auteur ; Charles-Olivier MARTIN, Auteur ; Anne-Marie BÉLANGER, Auteur ; Valérie K. FONTAINE, Auteur ; Hazel Maridith Barlahan BIAG, Auteur ; Leonard ABBEDUTO, Auteur ; Sébastien JACQUEMONT, Auteur ; David HESSL, Auteur ; Randi J. HAGERMAN, Auteur ; Andrea SCHNEIDER, Auteur ; Francois V. BOLDUC, Auteur ; Sarah LIPPE, Auteur . - e70194. Langues : Anglais (eng) in Autism Research > 19-3 (March 2026) . - e70194 Mots-clés : behavior  cognition  EEG  fragile X syndrome  PSD  resting state  signal complexity Index. décimale : PER Périodiques Résumé : ABSTRACT Fragile X Syndrome (FXS), an X-linked genetic condition, is associated with a wide range of phenotypic manifestations, namely intellectual disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and atypical behaviors. Individuals with FXS present robust electrophysiological (EEG) alterations, notably on signal complexity and power spectral density (PSD) resting state measures. To which extent they are associated to specific behavioral phenotypes in the FXS population remains to be comprehensively addressed. This study aimed to investigate the relations between resting state EEG markers and the most frequently observed symptoms in FXS. EEG and behavioral data from 41 individuals with FXS aged between 7 and 34?years old were collected, and correlational approaches were used to analyze the associations between EEG markers and symptomatology. We observed positive associations between complexity in higher scales and non-verbal intelligence quotient (NVIQ). Reduced alpha power, a robust biomarker in FXS, was associated with more social avoidance, a hallmark in FXS. Decreased high gamma power was linked to hyperactive symptoms. Our results suggest powerful relations between known biomarkers and core symptoms in FXS, highlighting that EEG biomarkers correspond to symptom severity which further supports their potential as objective, translational treatment outcome measures. En ligne : https://doi.org/10.1002/aur.70194 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=583

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

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 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] / 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

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)  

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Cognitive training for children and adolescents with fragile X syndrome: a randomized controlled trial of Cogmed / David HESSL in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

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Developmental associations between cognition and adaptive behavior in intellectual and developmental disability / Andrew DAKOPOLOS in Journal of Neurodevelopmental Disorders, 16 (2024)  

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

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

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Extending the Parent-Delivered Early Start Denver Model to Young Children with Fragile X Syndrome / Laurie A. VISMARA in Journal of Autism and Developmental Disorders, 49-3 (March 2019)  

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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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Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS) / Azia KNOX in Journal of Neurodevelopmental Disorders, 4-1 (December 2012)  

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Fragile X syndrome / Mary Jacena S. LEIGH

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Fragile X targeted pharmacotherapy: lessons learned and future directions / Craig ERICKSON in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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