ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males / Leonard ABBEDUTO in Journal of Autism and Developmental Disorders, 49-3 (March 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.960-977 Titre : ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males Type de document : texte imprimé Auteurs : Leonard ABBEDUTO, Auteur ; Angela J. THURMAN, Auteur ; Andrea MCDUFFIE, Auteur ; Jessica KLUSEK, Auteur ; Robyn Tempero FEIGLES, Auteur ; W. Ted BROWN, Auteur ; Danielle J. HARVEY, Auteur ; Tatyana ADAYEV, Auteur ; Giuseppe LAFAUCI, Auteur ; Carl DOBKINS, Auteur ; Jane E. ROBERTS, Auteur Article en page(s) : p.960-977 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Fmrp  Fragile X syndrome  Iq  Language  Psychiatric symptoms Index. décimale : PER Périodiques Résumé : Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in the sample. There was less impairment in restricted and repetitive behaviors (RRB) than in the social affective (SA) domain. The best predictor of overall ASD severity and SA severity was expressive syntactic ability. RRB severity was best predicted by the psychiatric factors. Implications for clinical practice and for understanding the ASD comorbidity in FXS are discussed. En ligne : http://dx.doi.org/10.1007/s10803-018-3796-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males [texte imprimé] / Leonard ABBEDUTO, Auteur ; Angela J. THURMAN, Auteur ; Andrea MCDUFFIE, Auteur ; Jessica KLUSEK, Auteur ; Robyn Tempero FEIGLES, Auteur ; W. Ted BROWN, Auteur ; Danielle J. HARVEY, Auteur ; Tatyana ADAYEV, Auteur ; Giuseppe LAFAUCI, Auteur ; Carl DOBKINS, Auteur ; Jane E. ROBERTS, Auteur . - p.960-977. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.960-977 Mots-clés : Autism spectrum disorder  Fmrp  Fragile X syndrome  Iq  Language  Psychiatric symptoms Index. décimale : PER Périodiques Résumé : Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in the sample. There was less impairment in restricted and repetitive behaviors (RRB) than in the social affective (SA) domain. The best predictor of overall ASD severity and SA severity was expressive syntactic ability. RRB severity was best predicted by the psychiatric factors. Implications for clinical practice and for understanding the ASD comorbidity in FXS are discussed. En ligne : http://dx.doi.org/10.1007/s10803-018-3796-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome / Audra STERLING ; Jamie EDGIN ; Debra R. HAMILTON ; Elizabeth BERRY-KRAVIS ; Amanda DIMACHKIE NUNNALLY ; Angela John THURMAN ; Leonard ABBEDUTO in Journal of Autism and Developmental Disorders, 54-1 (January 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-1 (January 2024) . - p.301-311 Titre : Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome Type de document : texte imprimé Auteurs : Audra STERLING, Auteur ; Jamie EDGIN, Auteur ; Debra R. HAMILTON, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Amanda DIMACHKIE NUNNALLY, Auteur ; Angela John THURMAN, Auteur ; Leonard ABBEDUTO, Auteur Article en page(s) : p.301-311 Index. décimale : PER Périodiques Résumé : This study explores sex-differences in (a) rates and profiles of autism symptoms as well as in (b) the contribution of intellectual quotient (IQ) to autism symptom presentation in Down syndrome (DS). Participants were 40 males and 38 females with DS, aged 6 to 23 years. Autism symptoms were rated through the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Results show no sex differences in the ADOS-2 Calibrated Severity Scores (CSS). However, only females with DS who are classified as DS-Only have higher scores on verbal IQ than those classified as DS+autism. Furthermore, associations between IQ and all CSSs are found for females, but not for males. Findings suggest that verbal cognition may play differential roles for females and males with DS. En ligne : https://doi.org/10.1007/s10803-022-05779-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 [article] Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome [texte imprimé] / Audra STERLING, Auteur ; Jamie EDGIN, Auteur ; Debra R. HAMILTON, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Amanda DIMACHKIE NUNNALLY, Auteur ; Angela John THURMAN, Auteur ; Leonard ABBEDUTO, Auteur . - p.301-311. in Journal of Autism and Developmental Disorders > 54-1 (January 2024) . - p.301-311 Index. décimale : PER Périodiques Résumé : This study explores sex-differences in (a) rates and profiles of autism symptoms as well as in (b) the contribution of intellectual quotient (IQ) to autism symptom presentation in Down syndrome (DS). Participants were 40 males and 38 females with DS, aged 6 to 23 years. Autism symptoms were rated through the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Results show no sex differences in the ADOS-2 Calibrated Severity Scores (CSS). However, only females with DS who are classified as DS-Only have higher scores on verbal IQ than those classified as DS+autism. Furthermore, associations between IQ and all CSSs are found for females, but not for males. Findings suggest that verbal cognition may play differential roles for females and males with DS. En ligne : https://doi.org/10.1007/s10803-022-05779-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520

Autism Symptomatology in Boys with Fragile X Syndrome: A Cross Sectional Developmental Trajectories Comparison with Nonsyndromic Autism Spectrum Disorder / Angela John THURMAN in Journal of Autism and Developmental Disorders, 45-9 (September 2015)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 45-9 (September 2015) . - p.2816-2832 Titre : Autism Symptomatology in Boys with Fragile X Syndrome: A Cross Sectional Developmental Trajectories Comparison with Nonsyndromic Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Angela John THURMAN, Auteur ; Andrea MCDUFFIE, Auteur ; Sara T. KOVER, Auteur ; Randi J. HAGERMAN, Auteur ; Leonard ABBEDUTO, Auteur Article en page(s) : p.2816-2832 Langues : Anglais (eng) Mots-clés : Fragile X syndrome  Autism spectrum disorder  Behavioral phenotype  Nonverbal cognition  Expressive vocabulary  Developmental trajectory Index. décimale : PER Périodiques Résumé : Although males with fragile X syndrome (FXS) are frequently described as demonstrating autism symptomatology, there is much debate regarding whether the behavioral symptoms representing the core domains of autism are the result of the same or different underlying neurological/psychological mechanisms. The present study used a cross-sectional developmental trajectories approach to compare the profiles of autism symptomatology relative to chronological age (CA), nonverbal IQ, and expressive vocabulary ability between individuals with FXS and individuals with nonsyndromic ASD. Results suggest that the onset of autism symptoms and their developmental trajectories in males with FXS differ in important ways as a function of CA, nonverbal cognitive ability, and expressive vocabulary relative to males with nonsyndromic ASD. Theoretical and clinical implications are discussed. En ligne : http://dx.doi.org/10.1007/s10803-015-2443-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=267 [article] Autism Symptomatology in Boys with Fragile X Syndrome: A Cross Sectional Developmental Trajectories Comparison with Nonsyndromic Autism Spectrum Disorder [texte imprimé] / Angela John THURMAN, Auteur ; Andrea MCDUFFIE, Auteur ; Sara T. KOVER, Auteur ; Randi J. HAGERMAN, Auteur ; Leonard ABBEDUTO, Auteur . - p.2816-2832. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 45-9 (September 2015) . - p.2816-2832 Mots-clés : Fragile X syndrome  Autism spectrum disorder  Behavioral phenotype  Nonverbal cognition  Expressive vocabulary  Developmental trajectory Index. décimale : PER Périodiques Résumé : Although males with fragile X syndrome (FXS) are frequently described as demonstrating autism symptomatology, there is much debate regarding whether the behavioral symptoms representing the core domains of autism are the result of the same or different underlying neurological/psychological mechanisms. The present study used a cross-sectional developmental trajectories approach to compare the profiles of autism symptomatology relative to chronological age (CA), nonverbal IQ, and expressive vocabulary ability between individuals with FXS and individuals with nonsyndromic ASD. Results suggest that the onset of autism symptoms and their developmental trajectories in males with FXS differ in important ways as a function of CA, nonverbal cognitive ability, and expressive vocabulary relative to males with nonsyndromic ASD. Theoretical and clinical implications are discussed. En ligne : http://dx.doi.org/10.1007/s10803-015-2443-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=267

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

Brain function and gaze fixation during facial-emotion processing in fragile X and autism / Kim M. DALTON in Autism Research, 1-4 (August 2008)  

Public ISBD [article]  inAutism Research > 1-4 (August 2008) . - p.231-239 Titre : Brain function and gaze fixation during facial-emotion processing in fragile X and autism Type de document : texte imprimé Auteurs : Kim M. DALTON, Auteur ; Laura HOLSEN, Auteur ; Leonard ABBEDUTO, Auteur ; Richard J. DAVIDSON, Auteur Année de publication : 2008 Article en page(s) : p.231-239 Langues : Anglais (eng) Mots-clés : fragile-X-syndrome autism face-processing brain-function fMRI Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most commonly known genetic disorder associated with autism spectrum disorder (ASD). Overlapping features in these populations include gaze aversion, communication deficits, and social withdrawal. Although the association between FXS and ASD has been well documented at the behavioral level, the underlying neural mechanisms associated with the social/emotional deficits in these groups remain unclear. We collected functional brain images and eye-gaze fixations from 9 individuals with FXS and 14 individuals with idiopathic ASD, as well as 15 typically developing (TD) individuals, while they performed a facial-emotion discrimination task. The FXS group showed a similar yet less aberrant pattern of gaze fixations compared with the ASD group. The FXS group also showed fusiform gyrus (FG) hypoactivation compared with the TD control group. Activation in FG was strongly and positively associated with average eye fixation and negatively associated with ASD characteristics in the FXS group. The FXS group displayed significantly greater activation than both the TD control and ASD groups in the left hippocampus (HIPP), left superior temporal gyrus (STG), right insula (INS), and left postcentral gyrus (PCG). These group differences in brain activation are important as they suggest unique underlying face-processing neural circuitry in FXS versus idiopathic ASD, largely supporting the hypothesis that ASD characteristics in FXS and idiopathic ASD reflect partially divergent impairments at the neural level, at least in FXS individuals without a co-morbid diagnosis of ASD. En ligne : http://dx.doi.org/10.1002/aur.32 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=932 [article] Brain function and gaze fixation during facial-emotion processing in fragile X and autism [texte imprimé] / Kim M. DALTON, Auteur ; Laura HOLSEN, Auteur ; Leonard ABBEDUTO, Auteur ; Richard J. DAVIDSON, Auteur . - 2008 . - p.231-239. Langues : Anglais (eng) in Autism Research > 1-4 (August 2008) . - p.231-239 Mots-clés : fragile-X-syndrome autism face-processing brain-function fMRI Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most commonly known genetic disorder associated with autism spectrum disorder (ASD). Overlapping features in these populations include gaze aversion, communication deficits, and social withdrawal. Although the association between FXS and ASD has been well documented at the behavioral level, the underlying neural mechanisms associated with the social/emotional deficits in these groups remain unclear. We collected functional brain images and eye-gaze fixations from 9 individuals with FXS and 14 individuals with idiopathic ASD, as well as 15 typically developing (TD) individuals, while they performed a facial-emotion discrimination task. The FXS group showed a similar yet less aberrant pattern of gaze fixations compared with the ASD group. The FXS group also showed fusiform gyrus (FG) hypoactivation compared with the TD control group. Activation in FG was strongly and positively associated with average eye fixation and negatively associated with ASD characteristics in the FXS group. The FXS group displayed significantly greater activation than both the TD control and ASD groups in the left hippocampus (HIPP), left superior temporal gyrus (STG), right insula (INS), and left postcentral gyrus (PCG). These group differences in brain activation are important as they suggest unique underlying face-processing neural circuitry in FXS versus idiopathic ASD, largely supporting the hypothesis that ASD characteristics in FXS and idiopathic ASD reflect partially divergent impairments at the neural level, at least in FXS individuals without a co-morbid diagnosis of ASD. En ligne : http://dx.doi.org/10.1002/aur.32 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=932

Considerations from the 2017 IMFAR Preconference on Measuring Meaningful Outcomes from School-Age to Adulthood / Vanessa H. BAL in Autism Research, 11-11 (November 2018)  

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Consistency and reliability of automated language measures across expressive language samples in autism / Heather MACFARLANE in Autism Research, 16-4 (April 2023)  

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Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome / Elizabeth I. PIERPONT in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

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Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome / Angela John THURMAN in Journal of Neurodevelopmental Disorders, 12 (2020)  

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Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity / Leonard ABBEDUTO in Journal of Neurodevelopmental Disorders, 12 (2020)  

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Developing and evaluating treatments for the challenges of autism and related neurodevelopmental disabilities / Leonard ABBEDUTO in Journal of Neurodevelopmental Disorders, 13 (2021)  

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Distance delivery of a parent-implemented language intervention for young boys with fragile X syndrome / Lauren BULLARD in Autism & Developmental Language Impairments, 2 (January-December 2017)  

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Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors / Laura DEL HOYO SORIANO in Journal of Neurodevelopmental Disorders, 12 (2020)  

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Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity / Leonard ABBEDUTO in Journal of Neurodevelopmental Disorders, 12 (2020)  

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Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation / Jessica KLUSEK in Journal of Neurodevelopmental Disorders, 14 (2022)  

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