A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation / L. M. WONG in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.45 Titre : A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation Type de document : Texte imprimé et/ou numérique Auteurs : L. M. WONG, Auteur ; N. J. GOODRICH-HUNSAKER, Auteur ; Y. A. MCLENNAN, Auteur ; F. TASSONE, Auteur ; S. M. RIVERA, Auteur ; T. J. SIMON, Auteur Article en page(s) : p.45 Langues : Anglais (eng) Mots-clés : Cueing  Endogenous  Exogenous  FMR1 gene  Fxtas  Fragile X Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X premutation carriers (fXPCs) have an expansion of 55-200 CGG repeats in the FMR1 gene. Male fXPCs are at risk for developing a neurodegenerative motor disorder (fragile X-associated tremor/ataxia syndrome (FXTAS)) often accompanied by cognitive decline. Several broad domains are implicated as core systems of dysfunction in fXPCs, including perceptual processing of spatial information, orienting of attention to space, and inhibiting attention to irrelevant distractors. We tested whether orienting of spatial attention is impaired in fXPCs. METHODS: Participants were fXPCs or healthy controls (HCs) asymptomatic for FXTAS. In experiment 1, they were male and female children and adults (aged 7-45 years). They oriented attention in response to volitional (endogenous) and reflexive (exogenous) cues. In experiment 2, the participants were men (aged 18-48 years). They oriented attention in an endogenous cueing task that manipulated the amount of information in the cue. RESULTS: In women, fXPCs exhibited slower reaction times than HCs in both the endogenous and exogenous conditions. In men, fXPCs exhibited slower reaction times than HCs in the exogenous condition and in the challenging endogenous cueing task with probabilistic cues. In children, fXPCs did not differ from HCs. CONCLUSIONS: Because adult fXPCs were slower even when controlling for psychomotor speed, results support the interpretation that a core dysfunction in fXPCs is the allocation of spatial attention, while perceptual processing and attention orienting are intact. These findings indicate the importance of considering age and sex when interpreting and generalizing studies of fXPCs. En ligne : http://dx.doi.org/10.1186/1866-1955-6-45 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation [Texte imprimé et/ou numérique] / L. M. WONG, Auteur ; N. J. GOODRICH-HUNSAKER, Auteur ; Y. A. MCLENNAN, Auteur ; F. TASSONE, Auteur ; S. M. RIVERA, Auteur ; T. J. SIMON, Auteur . - p.45. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.45 Mots-clés : Cueing  Endogenous  Exogenous  FMR1 gene  Fxtas  Fragile X Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X premutation carriers (fXPCs) have an expansion of 55-200 CGG repeats in the FMR1 gene. Male fXPCs are at risk for developing a neurodegenerative motor disorder (fragile X-associated tremor/ataxia syndrome (FXTAS)) often accompanied by cognitive decline. Several broad domains are implicated as core systems of dysfunction in fXPCs, including perceptual processing of spatial information, orienting of attention to space, and inhibiting attention to irrelevant distractors. We tested whether orienting of spatial attention is impaired in fXPCs. METHODS: Participants were fXPCs or healthy controls (HCs) asymptomatic for FXTAS. In experiment 1, they were male and female children and adults (aged 7-45 years). They oriented attention in response to volitional (endogenous) and reflexive (exogenous) cues. In experiment 2, the participants were men (aged 18-48 years). They oriented attention in an endogenous cueing task that manipulated the amount of information in the cue. RESULTS: In women, fXPCs exhibited slower reaction times than HCs in both the endogenous and exogenous conditions. In men, fXPCs exhibited slower reaction times than HCs in the exogenous condition and in the challenging endogenous cueing task with probabilistic cues. In children, fXPCs did not differ from HCs. CONCLUSIONS: Because adult fXPCs were slower even when controlling for psychomotor speed, results support the interpretation that a core dysfunction in fXPCs is the allocation of spatial attention, while perceptual processing and attention orienting are intact. These findings indicate the importance of considering age and sex when interpreting and generalizing studies of fXPCs. En ligne : http://dx.doi.org/10.1186/1866-1955-6-45 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Differential Altered Auditory Event-Related Potential Responses in Young Boys on the Autism Spectrum With and Without Disproportionate Megalencephaly / R. DE MEO-MONTEIL in Autism Research, 12-8 (August 2019)  

Public ISBD [article]  inAutism Research > 12-8 (August 2019) . - p.1236-1250 Titre : Differential Altered Auditory Event-Related Potential Responses in Young Boys on the Autism Spectrum With and Without Disproportionate Megalencephaly Type de document : Texte imprimé et/ou numérique Auteurs : R. DE MEO-MONTEIL, Auteur ; Christine W. NORDAHL, Auteur ; David G. AMARAL, Auteur ; Sally J ROGERS, Auteur ; S. K. HAROOTONIAN, Auteur ; J. MARTIN, Auteur ; S. M. RIVERA, Auteur ; C. D. SARON, Auteur Article en page(s) : p.1236-1250 Langues : Anglais (eng) Mots-clés : Eeg  auditory processing  autism spectrum disorder  disproportionate megalencephaly  toddlers Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD), characterized by impairments in social communication and repetitive behaviors, often includes altered responses to sensory inputs as part of its phenotype. The neurobiological basis for altered sensory processing is not well understood. The UC Davis Medical Investigation of Neurodevelopmental Disorders Institute Autism Phenome Project is a longitudinal, multidisciplinary study of young children with ASD and age-matched typically developing (TD) controls. Previous analyses of the magnetic resonance imaging data from this cohort have shown that approximately 15% of boys with ASD have disproportionate megalencephaly (DM) or brain size to height ratio, that is 1.5 standard deviations above the TD mean. Here, we investigated electrophysiological responses to auditory stimuli of increasing intensity (50-80 dB) in young toddlers (27-48 months old). Analyses included data from 36 age-matched boys, of which 24 were diagnosed with ASD (12 with and 12 without DM; ASD-DM and ASD-N) and 12 TD controls. We found that the two ASD subgroups differed in their electrophysiological response patterns to sounds of increasing intensity. At early latencies (55-115 ms), ASD-N does not show a loudness-dependent response like TD and ASD-DM, but tends to group intensities by soft vs. loud sounds, suggesting differences in sensory sensitivity in this group. At later latencies (145-195 ms), only the ASD-DM group shows significantly higher amplitudes for loud sounds. Because no similar effects were found in ASD-N and TD groups, this may be related to their altered neuroanatomy. These results contribute to the effort to delineate ASD subgroups and further characterize physiological responses associated with observable phenotypes. Autism Res 2019, 12: 1236-1250. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Approximately 15% of boys with ASD have much bigger brains when compared to individuals with typical development. By recording brain waves (electroencephalography) we compared how autistic children, with or without big brains, react to sounds compared to typically developing controls. We found that brain responses in the big-brained group are different from the two other groups, suggesting that they represent a specific autism subgroup. En ligne : http://dx.doi.org/10.1002/aur.2137 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405 [article] Differential Altered Auditory Event-Related Potential Responses in Young Boys on the Autism Spectrum With and Without Disproportionate Megalencephaly [Texte imprimé et/ou numérique] / R. DE MEO-MONTEIL, Auteur ; Christine W. NORDAHL, Auteur ; David G. AMARAL, Auteur ; Sally J ROGERS, Auteur ; S. K. HAROOTONIAN, Auteur ; J. MARTIN, Auteur ; S. M. RIVERA, Auteur ; C. D. SARON, Auteur . - p.1236-1250. Langues : Anglais (eng) in Autism Research > 12-8 (August 2019) . - p.1236-1250 Mots-clés : Eeg  auditory processing  autism spectrum disorder  disproportionate megalencephaly  toddlers Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD), characterized by impairments in social communication and repetitive behaviors, often includes altered responses to sensory inputs as part of its phenotype. The neurobiological basis for altered sensory processing is not well understood. The UC Davis Medical Investigation of Neurodevelopmental Disorders Institute Autism Phenome Project is a longitudinal, multidisciplinary study of young children with ASD and age-matched typically developing (TD) controls. Previous analyses of the magnetic resonance imaging data from this cohort have shown that approximately 15% of boys with ASD have disproportionate megalencephaly (DM) or brain size to height ratio, that is 1.5 standard deviations above the TD mean. Here, we investigated electrophysiological responses to auditory stimuli of increasing intensity (50-80 dB) in young toddlers (27-48 months old). Analyses included data from 36 age-matched boys, of which 24 were diagnosed with ASD (12 with and 12 without DM; ASD-DM and ASD-N) and 12 TD controls. We found that the two ASD subgroups differed in their electrophysiological response patterns to sounds of increasing intensity. At early latencies (55-115 ms), ASD-N does not show a loudness-dependent response like TD and ASD-DM, but tends to group intensities by soft vs. loud sounds, suggesting differences in sensory sensitivity in this group. At later latencies (145-195 ms), only the ASD-DM group shows significantly higher amplitudes for loud sounds. Because no similar effects were found in ASD-N and TD groups, this may be related to their altered neuroanatomy. These results contribute to the effort to delineate ASD subgroups and further characterize physiological responses associated with observable phenotypes. Autism Res 2019, 12: 1236-1250. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Approximately 15% of boys with ASD have much bigger brains when compared to individuals with typical development. By recording brain waves (electroencephalography) we compared how autistic children, with or without big brains, react to sounds compared to typically developing controls. We found that brain responses in the big-brained group are different from the two other groups, suggesting that they represent a specific autism subgroup. En ligne : http://dx.doi.org/10.1002/aur.2137 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405

The cognitive neuropsychological phenotype of carriers of the FMR1 premutation / J. GRIGSBY in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.28 Titre : The cognitive neuropsychological phenotype of carriers of the FMR1 premutation Type de document : Texte imprimé et/ou numérique Auteurs : J. GRIGSBY, Auteur ; Kim CORNISH, Auteur ; D. HOCKING, Auteur ; C. KRAAN, Auteur ; J. M. OLICHNEY, Auteur ; S. M. RIVERA, Auteur ; A. SCHNEIDER, Auteur ; S. SHERMAN, Auteur ; J. Y. WANG, Auteur ; J. C. YANG, Auteur Article en page(s) : p.28 Langues : Anglais (eng) Mots-clés : Cognition disorders  Executive function  Fmr1  Fxtas  Fragile X  Fragile X premutation  Fragile X-associated tremor/ataxia syndrome Index. décimale : PER Périodiques Résumé : The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females. Although the most obvious aspect of the phenotype is the movement disorder that gives FXTAS its name, the disorder is also accompanied by progressive cognitive impairment. In this review, we address the cognitive neuropsychological and neurophysiological phenotype for males and females with FXTAS, and for male and female unaffected carriers. Despite differences in penetrance and expression, the cognitive features of the disorder appear similar for both genders, with impairment of executive functioning, working memory, and information processing the most prominent. Deficits in these functional systems may be largely responsible for impairment on other measures, including tests of general intelligence and declarative learning. FXTAS is to a large extent a white matter disease, and the cognitive phenotypes observed are consistent with what some have described as white matter dementia, in contrast to the impaired cortical functioning more characteristic of Alzheimer's disease and related disorders. Although some degree of impaired executive functioning appears to be ubiquitous among persons with FXTAS, the data suggest that only a subset of unaffected carriers of the premutation - both female and male - demonstrate such deficits, which typically are mild. The best-studied phenotype is that of males with FXTAS. The manifestations of cognitive impairment among asymptomatic male carriers, and among women with and without FXTAS, are less well understood, but have come under increased scrutiny. En ligne : http://dx.doi.org/10.1186/1866-1955-6-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] The cognitive neuropsychological phenotype of carriers of the FMR1 premutation [Texte imprimé et/ou numérique] / J. GRIGSBY, Auteur ; Kim CORNISH, Auteur ; D. HOCKING, Auteur ; C. KRAAN, Auteur ; J. M. OLICHNEY, Auteur ; S. M. RIVERA, Auteur ; A. SCHNEIDER, Auteur ; S. SHERMAN, Auteur ; J. Y. WANG, Auteur ; J. C. YANG, Auteur . - p.28. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.28 Mots-clés : Cognition disorders  Executive function  Fmr1  Fxtas  Fragile X  Fragile X premutation  Fragile X-associated tremor/ataxia syndrome Index. décimale : PER Périodiques Résumé : The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting a subset of carriers of the FMR1 (fragile X mental retardation 1) premutation. Penetrance and expression appear to be significantly higher in males than females. Although the most obvious aspect of the phenotype is the movement disorder that gives FXTAS its name, the disorder is also accompanied by progressive cognitive impairment. In this review, we address the cognitive neuropsychological and neurophysiological phenotype for males and females with FXTAS, and for male and female unaffected carriers. Despite differences in penetrance and expression, the cognitive features of the disorder appear similar for both genders, with impairment of executive functioning, working memory, and information processing the most prominent. Deficits in these functional systems may be largely responsible for impairment on other measures, including tests of general intelligence and declarative learning. FXTAS is to a large extent a white matter disease, and the cognitive phenotypes observed are consistent with what some have described as white matter dementia, in contrast to the impaired cortical functioning more characteristic of Alzheimer's disease and related disorders. Although some degree of impaired executive functioning appears to be ubiquitous among persons with FXTAS, the data suggest that only a subset of unaffected carriers of the premutation - both female and male - demonstrate such deficits, which typically are mild. The best-studied phenotype is that of males with FXTAS. The manifestations of cognitive impairment among asymptomatic male carriers, and among women with and without FXTAS, are less well understood, but have come under increased scrutiny. En ligne : http://dx.doi.org/10.1186/1866-1955-6-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Using infrared eye-tracking to explore ordinal numerical processing in toddlers with Fragile X Syndrome / E. R. OWEN in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.1 Titre : Using infrared eye-tracking to explore ordinal numerical processing in toddlers with Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : E. R. OWEN, Auteur ; H. A. BAUMGARTNER, Auteur ; S. M. RIVERA, Auteur Article en page(s) : p.1 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and non-idiopathic autism. Individuals with FXS present with a behavioral phenotype of specific and selective deficits in an array of cognitive skills. Disruption of number processing and arithmetic abilities in higher-functioning adults and female adolescents with FXS has been well established. Still, both numerical skills and developmentally antecedent cognitive processes have just begun to be investigated in toddlers with FXS. The goal of the current study was to assess how very young children with FXS respond to ordinal relationships among numerical magnitudes. METHODS: Infrared eye-tracking was used to explore infants' novelty recognition during passive viewing of ordinal numerical sequences; t-tests were used to analyze group differences in looking time. RESULTS: Ordinal recognition of numerical magnitudes is significantly impaired in young toddlers with FXS. CONCLUSIONS: This study is the first to experimentally evaluate early number sense and ordinal recognition in toddlers with FXS, and our findings reveal that ordinal recognition of numerical magnitudes is significantly impaired in young toddlers with FXS, suggesting that later arithmetic impairments associated with FXS may have their origins in a developmental impairment of this more basic aspect of numerical cognition. En ligne : http://dx.doi.org/10.1186/1866-1955-5-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344 [article] Using infrared eye-tracking to explore ordinal numerical processing in toddlers with Fragile X Syndrome [Texte imprimé et/ou numérique] / E. R. OWEN, Auteur ; H. A. BAUMGARTNER, Auteur ; S. M. RIVERA, Auteur . - p.1. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.1 Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and non-idiopathic autism. Individuals with FXS present with a behavioral phenotype of specific and selective deficits in an array of cognitive skills. Disruption of number processing and arithmetic abilities in higher-functioning adults and female adolescents with FXS has been well established. Still, both numerical skills and developmentally antecedent cognitive processes have just begun to be investigated in toddlers with FXS. The goal of the current study was to assess how very young children with FXS respond to ordinal relationships among numerical magnitudes. METHODS: Infrared eye-tracking was used to explore infants' novelty recognition during passive viewing of ordinal numerical sequences; t-tests were used to analyze group differences in looking time. RESULTS: Ordinal recognition of numerical magnitudes is significantly impaired in young toddlers with FXS. CONCLUSIONS: This study is the first to experimentally evaluate early number sense and ordinal recognition in toddlers with FXS, and our findings reveal that ordinal recognition of numerical magnitudes is significantly impaired in young toddlers with FXS, suggesting that later arithmetic impairments associated with FXS may have their origins in a developmental impairment of this more basic aspect of numerical cognition. En ligne : http://dx.doi.org/10.1186/1866-1955-5-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344

Visual motion processing deficits in infants with the fragile X premutation / P. K. GALLEGO in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.29 Titre : Visual motion processing deficits in infants with the fragile X premutation Type de document : Texte imprimé et/ou numérique Auteurs : P. K. GALLEGO, Auteur ; J. L. BURRIS, Auteur ; S. M. RIVERA, Auteur Article en page(s) : p.29 Langues : Anglais (eng) Mots-clés : Contrast detection  Fragile X syndrome  Premutation  Visual processing deficits Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) results from a trinucleotide repeat expansion (full mutation >200 cytosine-guanine-guanine (CGG) repeats) in the FMR1 gene, leading to a reduction or absence of the gene's protein product, fragile X mental retardation protein (FMRP), ultimately causing cognitive and behavioral impairments that are characteristic of the syndrome. In our previous work with infants and toddlers with FXS, we have been able to describe much about their cognitive and visual processing abilities. In light of recent work on the mild cognitive deficits and functional and structural brain differences that are present in adults with the fragile X (FX) premutation, in the present study we examined whether some of the low-level visual processing deficits we have observed in infants with FXS would also be present in infants with the FX premutation (55-200 CGG repeats). METHODS: We chose a contrast detection task using second-order motion stimuli on which infants with FXS previously showed significantly increased detection thresholds (Vision Res 48:1471-1478, 2008). Critically, we also included a developmental delay comparison group of infants with Down syndrome (DS), who were matched to infants with FXS on both chronological and mental age, to speak to the question of whether this second-order motion processing deficit is a FX-specific phenomenon. RESULTS: As reported previously, infants with the FX full mutation showed motion contrast detection threshold levels that were significantly higher than age-matched typically developing control infants. Strikingly, the motion detection contrast levels of FX premutation infants were also significantly higher than typically developing (TD) infants and not significantly different from the group of infants with FXS or with DS. CONCLUSIONS: These results, which are in keeping with a growing body of evidence on the mild cognitive and perceptual processing deficits and functional and structural brain differences that are present in adults and older children with the FX premutation, underscore the pressing need to study and describe the processing capabilities of infants and toddlers with the FX premutation. En ligne : http://dx.doi.org/10.1186/1866-1955-6-29 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Visual motion processing deficits in infants with the fragile X premutation [Texte imprimé et/ou numérique] / P. K. GALLEGO, Auteur ; J. L. BURRIS, Auteur ; S. M. RIVERA, Auteur . - p.29. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.29 Mots-clés : Contrast detection  Fragile X syndrome  Premutation  Visual processing deficits Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) results from a trinucleotide repeat expansion (full mutation >200 cytosine-guanine-guanine (CGG) repeats) in the FMR1 gene, leading to a reduction or absence of the gene's protein product, fragile X mental retardation protein (FMRP), ultimately causing cognitive and behavioral impairments that are characteristic of the syndrome. In our previous work with infants and toddlers with FXS, we have been able to describe much about their cognitive and visual processing abilities. In light of recent work on the mild cognitive deficits and functional and structural brain differences that are present in adults with the fragile X (FX) premutation, in the present study we examined whether some of the low-level visual processing deficits we have observed in infants with FXS would also be present in infants with the FX premutation (55-200 CGG repeats). METHODS: We chose a contrast detection task using second-order motion stimuli on which infants with FXS previously showed significantly increased detection thresholds (Vision Res 48:1471-1478, 2008). Critically, we also included a developmental delay comparison group of infants with Down syndrome (DS), who were matched to infants with FXS on both chronological and mental age, to speak to the question of whether this second-order motion processing deficit is a FX-specific phenomenon. RESULTS: As reported previously, infants with the FX full mutation showed motion contrast detection threshold levels that were significantly higher than age-matched typically developing control infants. Strikingly, the motion detection contrast levels of FX premutation infants were also significantly higher than typically developing (TD) infants and not significantly different from the group of infants with FXS or with DS. CONCLUSIONS: These results, which are in keeping with a growing body of evidence on the mild cognitive and perceptual processing deficits and functional and structural brain differences that are present in adults and older children with the FX premutation, underscore the pressing need to study and describe the processing capabilities of infants and toddlers with the FX premutation. En ligne : http://dx.doi.org/10.1186/1866-1955-6-29 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

What Are You Doing With That Object? Comparing the Neural Responses of Action Understanding in Adolescents With and Without Autism / J. J. POKORNY in Journal of Autism and Developmental Disorders, 48-3 (March 2018)  

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Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed / L. M. WONG in Journal of Neurodevelopmental Disorders, 4-1 (December 2012)  

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