Associated features in females with an FMR1 premutation / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.30 Titre : Associated features in females with an FMR1 premutation Type de document : Texte imprimé et/ou numérique Auteurs : Anne C. WHEELER, Auteur ; Donald B. Jr BAILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; J. GREENBERG, Auteur ; M. LOSH, Auteur ; M. MAILICK, Auteur ; M. MILA, Auteur ; J. M. OLICHNEY, Auteur ; L. RODRIGUEZ-REVENGA, Auteur ; S. SHERMAN, Auteur ; L. SMITH, Auteur ; S. SUMMERS, Auteur ; J. C. YANG, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.30 Langues : Anglais (eng) Mots-clés : FMR1 premutation  fragile X  health risks Index. décimale : PER Périodiques Résumé : Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested. En ligne : http://dx.doi.org/10.1186/1866-1955-6-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Associated features in females with an FMR1 premutation [Texte imprimé et/ou numérique] / Anne C. WHEELER, Auteur ; Donald B. Jr BAILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; J. GREENBERG, Auteur ; M. LOSH, Auteur ; M. MAILICK, Auteur ; M. MILA, Auteur ; J. M. OLICHNEY, Auteur ; L. RODRIGUEZ-REVENGA, Auteur ; S. SHERMAN, Auteur ; L. SMITH, Auteur ; S. SUMMERS, Auteur ; J. C. YANG, Auteur ; Randi J. HAGERMAN, Auteur . - p.30. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.30 Mots-clés : FMR1 premutation  fragile X  health risks Index. décimale : PER Périodiques Résumé : Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested. En ligne : http://dx.doi.org/10.1186/1866-1955-6-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome / M. LEE in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.47 Titre : A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. LEE, Auteur ; G. E. MARTIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. LOSH, Auteur Article en page(s) : p.47 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Endophenotype  FMR1 gene  Fragile X syndrome  Language  Longitudinal  Pragmatics  Social behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model for this approach, and important areas of phenotypic overlap and divergence have been documented. However, few studies have examined how the manifestation of ASD-related phenotypes in FXS may change over development, a question which has important implications for conceptualizing shared etiologies of these disorders and their constituent phenotypes. The goal of this study was to characterize ASD phenotypes in boys and girls with FXS across development, as well as to compare individual component phenotypes among boys with FXS and boys with idiopathic ASD (ASD-O) over time. METHODS: Sixty-five boys and girls with FXS and 19 boys with ASD-O completed a battery of diagnostic, cognitive, and language assessments at two time points (mean 2.5 years apart). Nonparametric tests assessed changes in diagnostic classification in FXS over time, and hierarchical linear modeling and repeated measures assessed changes in individual ASD symptoms in FXS over time. Additionally, ANCOVAs compared ASD symptom severity and component phenotypes in boys with FXS-O, FXS-ASD, and ASD-O at both time points. RESULTS: Overall, ASD symptom manifestation for children with FXS significantly increased over time, and developmental predictors varied based on the domain of symptoms assessed. The greatest degree of overlap was observed between boys with FXS-ASD and ASD-O in the domain of reciprocal social communication across time points, whereas boys with ASD-O demonstrated greater impairment in restricted and repetitive behaviors at the later time point. CONCLUSIONS: ASD symptoms increased in FXS with age, and social language impairment emerged as a potential core shared feature of FXS and ASD that may help elucidate underlying molecular genetic variation related to phenotypic variance, and aid intervention planning for subgroups of children showing distinct phenotypes. Results highlight the value of a developmental perspective, and longitudinal data in particular, in evaluating shared behavioral phenotypes across genetic conditions, lending insight into underlying cognitive, neural, and genetic mechanisms associated with key developmental phenotypes in ASD and FXS. En ligne : http://dx.doi.org/10.1186/s11689-016-9179-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 [article] A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome [Texte imprimé et/ou numérique] / M. LEE, Auteur ; G. E. MARTIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. LOSH, Auteur . - p.47. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.47 Mots-clés : Autism spectrum disorder  Endophenotype  FMR1 gene  Fragile X syndrome  Language  Longitudinal  Pragmatics  Social behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model for this approach, and important areas of phenotypic overlap and divergence have been documented. However, few studies have examined how the manifestation of ASD-related phenotypes in FXS may change over development, a question which has important implications for conceptualizing shared etiologies of these disorders and their constituent phenotypes. The goal of this study was to characterize ASD phenotypes in boys and girls with FXS across development, as well as to compare individual component phenotypes among boys with FXS and boys with idiopathic ASD (ASD-O) over time. METHODS: Sixty-five boys and girls with FXS and 19 boys with ASD-O completed a battery of diagnostic, cognitive, and language assessments at two time points (mean 2.5 years apart). Nonparametric tests assessed changes in diagnostic classification in FXS over time, and hierarchical linear modeling and repeated measures assessed changes in individual ASD symptoms in FXS over time. Additionally, ANCOVAs compared ASD symptom severity and component phenotypes in boys with FXS-O, FXS-ASD, and ASD-O at both time points. RESULTS: Overall, ASD symptom manifestation for children with FXS significantly increased over time, and developmental predictors varied based on the domain of symptoms assessed. The greatest degree of overlap was observed between boys with FXS-ASD and ASD-O in the domain of reciprocal social communication across time points, whereas boys with ASD-O demonstrated greater impairment in restricted and repetitive behaviors at the later time point. CONCLUSIONS: ASD symptoms increased in FXS with age, and social language impairment emerged as a potential core shared feature of FXS and ASD that may help elucidate underlying molecular genetic variation related to phenotypic variance, and aid intervention planning for subgroups of children showing distinct phenotypes. Results highlight the value of a developmental perspective, and longitudinal data in particular, in evaluating shared behavioral phenotypes across genetic conditions, lending insight into underlying cognitive, neural, and genetic mechanisms associated with key developmental phenotypes in ASD and FXS. En ligne : http://dx.doi.org/10.1186/s11689-016-9179-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349

Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome / M. LEE in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.10 Titre : Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. LEE, Auteur ; G. E. MARTIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. LOSH, Auteur Article en page(s) : p.10 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s11689-016-9179-0.]. En ligne : http://dx.doi.org/10.1186/s11689-017-9192-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome [Texte imprimé et/ou numérique] / M. LEE, Auteur ; G. E. MARTIN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; M. LOSH, Auteur . - p.10. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.10 Index. décimale : PER Périodiques Résumé : [This corrects the article DOI: 10.1186/s11689-016-9179-0.]. En ligne : http://dx.doi.org/10.1186/s11689-017-9192-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Eye-voice span during rapid automatized naming: evidence of reduced automaticity in individuals with autism spectrum disorder and their siblings / Abigail L. HOGAN-BROWN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.33 Titre : Eye-voice span during rapid automatized naming: evidence of reduced automaticity in individuals with autism spectrum disorder and their siblings Type de document : Texte imprimé et/ou numérique Auteurs : Abigail L. HOGAN-BROWN, Auteur ; R. S. HOEDEMAKER, Auteur ; P. C. GORDON, Auteur ; M. LOSH, Auteur Article en page(s) : p.33 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Endophenotype  Eye tracking  Language  Rapid automatized naming  Siblings Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with autism spectrum disorder (ASD) and their parents demonstrate impaired performance in rapid automatized naming (RAN), a task that recruits a variety of linguistic and executive processes. Though the basic processes that contribute to RAN differences remain unclear, eye-voice relationships, as measured through eye tracking, can provide insight into cognitive and perceptual processes contributing to RAN performance. For example, in RAN, eye-voice span (EVS), the distance ahead the eyes are when articulation of a target item's label begins, is an indirect measure of automaticity of the processes underlying RAN. The primary objective of this study was to investigate automaticity in naming processes, as indexed by EVS during RAN. The secondary objective was to characterize RAN difficulties in individuals with ASD and their siblings. METHODS: Participants (aged 15-33 years) included 21 individuals with ASD, 23 siblings of individuals with ASD, and 24 control subjects, group-matched on chronological age. Naming time, frequency of errors, and EVS were measured during a RAN task and compared across groups. RESULTS: A stepwise pattern of RAN performance was observed, with individuals with ASD demonstrating the slowest naming across all RAN conditions, controls demonstrating the fastest naming, and siblings demonstrating intermediate performance. Individuals with ASD exhibited smaller EVSs than controls on all RAN conditions, and siblings exhibited smaller EVSs during number naming (the most highly automatized type of naming). EVSs were correlated with naming times in controls only, and only in the more automatized conditions. CONCLUSIONS: These results suggest that reduced automaticity in the component processes of RAN may underpin differences in individuals with ASD and their siblings. These findings also provide further support that RAN abilities are impacted by genetic liability to ASD. This study has important implications for understanding the underlying skills contributing to language-related deficits in ASD. En ligne : http://dx.doi.org/10.1186/1866-1955-6-33 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Eye-voice span during rapid automatized naming: evidence of reduced automaticity in individuals with autism spectrum disorder and their siblings [Texte imprimé et/ou numérique] / Abigail L. HOGAN-BROWN, Auteur ; R. S. HOEDEMAKER, Auteur ; P. C. GORDON, Auteur ; M. LOSH, Auteur . - p.33. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.33 Mots-clés : Autism spectrum disorder  Endophenotype  Eye tracking  Language  Rapid automatized naming  Siblings Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with autism spectrum disorder (ASD) and their parents demonstrate impaired performance in rapid automatized naming (RAN), a task that recruits a variety of linguistic and executive processes. Though the basic processes that contribute to RAN differences remain unclear, eye-voice relationships, as measured through eye tracking, can provide insight into cognitive and perceptual processes contributing to RAN performance. For example, in RAN, eye-voice span (EVS), the distance ahead the eyes are when articulation of a target item's label begins, is an indirect measure of automaticity of the processes underlying RAN. The primary objective of this study was to investigate automaticity in naming processes, as indexed by EVS during RAN. The secondary objective was to characterize RAN difficulties in individuals with ASD and their siblings. METHODS: Participants (aged 15-33 years) included 21 individuals with ASD, 23 siblings of individuals with ASD, and 24 control subjects, group-matched on chronological age. Naming time, frequency of errors, and EVS were measured during a RAN task and compared across groups. RESULTS: A stepwise pattern of RAN performance was observed, with individuals with ASD demonstrating the slowest naming across all RAN conditions, controls demonstrating the fastest naming, and siblings demonstrating intermediate performance. Individuals with ASD exhibited smaller EVSs than controls on all RAN conditions, and siblings exhibited smaller EVSs during number naming (the most highly automatized type of naming). EVSs were correlated with naming times in controls only, and only in the more automatized conditions. CONCLUSIONS: These results suggest that reduced automaticity in the component processes of RAN may underpin differences in individuals with ASD and their siblings. These findings also provide further support that RAN abilities are impacted by genetic liability to ASD. This study has important implications for understanding the underlying skills contributing to language-related deficits in ASD. En ligne : http://dx.doi.org/10.1186/1866-1955-6-33 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Lifelong Tone Language Experience does not Eliminate Deficits in Neural Encoding of Pitch in Autism Spectrum Disorder / J. C. Y. LAU in Journal of Autism and Developmental Disorders, 51-9 (September 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-9 (September 2021) . - p.3291-3310 Titre : Lifelong Tone Language Experience does not Eliminate Deficits in Neural Encoding of Pitch in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : J. C. Y. LAU, Auteur ; C. K. S. TO, Auteur ; J. S. K. KWAN, Auteur ; X. KANG, Auteur ; M. LOSH, Auteur ; P. C. M. WONG, Auteur Article en page(s) : p.3291-3310 Langues : Anglais (eng) Mots-clés : Acoustic Stimulation  Adult  Autism Spectrum Disorder  Child  Humans  Language  Pitch Perception  Autism Spectrum Disorder  Frequency-following responses  Machine-learning  Neural pitch encoding  Tone language Index. décimale : PER Périodiques Résumé : Atypical pitch processing is a feature of Autism Spectrum Disorder (ASD), which affects non-tone language speakers' communication. Lifelong auditory experience has been demonstrated to modify genetically-predisposed risks for pitch processing. We examined individuals with ASD to test the hypothesis that lifelong auditory experience in tone language may eliminate impaired pitch processing in ASD. We examined children's and adults' Frequency-following Response (FFR), a neurophysiological component indexing early neural sensory encoding of pitch. Univariate and machine-learning-based analytics suggest less robust pitch encoding and diminished pitch distinctions in the FFR from individuals with ASD. Contrary to our hypothesis, results point to a linguistic pitch encoding impairment associated with ASD that may not be eliminated even by lifelong sensory experience. En ligne : http://dx.doi.org/10.1007/s10803-020-04796-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 [article] Lifelong Tone Language Experience does not Eliminate Deficits in Neural Encoding of Pitch in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / J. C. Y. LAU, Auteur ; C. K. S. TO, Auteur ; J. S. K. KWAN, Auteur ; X. KANG, Auteur ; M. LOSH, Auteur ; P. C. M. WONG, Auteur . - p.3291-3310. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-9 (September 2021) . - p.3291-3310 Mots-clés : Acoustic Stimulation  Adult  Autism Spectrum Disorder  Child  Humans  Language  Pitch Perception  Autism Spectrum Disorder  Frequency-following responses  Machine-learning  Neural pitch encoding  Tone language Index. décimale : PER Périodiques Résumé : Atypical pitch processing is a feature of Autism Spectrum Disorder (ASD), which affects non-tone language speakers' communication. Lifelong auditory experience has been demonstrated to modify genetically-predisposed risks for pitch processing. We examined individuals with ASD to test the hypothesis that lifelong auditory experience in tone language may eliminate impaired pitch processing in ASD. We examined children's and adults' Frequency-following Response (FFR), a neurophysiological component indexing early neural sensory encoding of pitch. Univariate and machine-learning-based analytics suggest less robust pitch encoding and diminished pitch distinctions in the FFR from individuals with ASD. Contrary to our hypothesis, results point to a linguistic pitch encoding impairment associated with ASD that may not be eliminated even by lifelong sensory experience. En ligne : http://dx.doi.org/10.1007/s10803-020-04796-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453

Links between looking and speaking in autism and first-degree relatives: insights into the expression of genetic liability to autism / K. NAYAR in Molecular Autism, 9 (2018)  

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Mechanisms of voice control related to prosody in autism spectrum disorder and first-degree relatives / S. P. PATEL in Autism Research, 12-8 (August 2019)  

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Rapid automatized naming as an index of genetic liability to autism / M. LOSH in Journal of Neurodevelopmental Disorders, 2-2 (June 2010)  

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What's the story? A computational analysis of narrative competence in autism / M. LEE in Autism, 22-3 (April 2018)  

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