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

Brief Report: Socioeconomic Factors Associated with Minimally Verbal Status in Individuals with ASD / N. MALTMAN in Journal of Autism and Developmental Disorders, 51-6 (June 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.2139-2145 Titre : Brief Report: Socioeconomic Factors Associated with Minimally Verbal Status in Individuals with ASD Type de document : Texte imprimé et/ou numérique Auteurs : N. MALTMAN, Auteur ; Leann S. DAWALT, Auteur ; J. HONG, Auteur ; M. MAILICK, Auteur Article en page(s) : p.2139-2145 Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder/economics/psychology  Child  Female  Humans  Language Development  Male  Parents  Socioeconomic Factors  Verbal Learning  Young Adult  Adi-r  Asd  Lifespan development  Minimally verbal  Ses Index. décimale : PER Périodiques Résumé : About 30% of adults with autism are minimally verbal. Past research suggested that after age five, few gain verbal fluency, but studies have rarely investigated whether family environmental factors contribute to the acquisition of verbal fluency. The present study utilized data from the Autism Diagnostic Interview-Revised to compare changes in verbal fluency for 404 individuals with autism from childhood to adolescence and adulthood. Socioeconomic factors were examined across fluency groups (i.e., those who did/did not achieve verbal fluency). Findings indicated that fully 60% of those who were minimally verbal in early childhood acquired verbal fluency in adolescence and adulthood. Parent socioeconomic status differed across fluency groups, suggesting the importance of environmental factors for individual development. En ligne : http://dx.doi.org/10.1007/s10803-020-04646-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 [article] Brief Report: Socioeconomic Factors Associated with Minimally Verbal Status in Individuals with ASD [Texte imprimé et/ou numérique] / N. MALTMAN, Auteur ; Leann S. DAWALT, Auteur ; J. HONG, Auteur ; M. MAILICK, Auteur . - p.2139-2145. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.2139-2145 Mots-clés : Adolescent  Adult  Autism Spectrum Disorder/economics/psychology  Child  Female  Humans  Language Development  Male  Parents  Socioeconomic Factors  Verbal Learning  Young Adult  Adi-r  Asd  Lifespan development  Minimally verbal  Ses Index. décimale : PER Périodiques Résumé : About 30% of adults with autism are minimally verbal. Past research suggested that after age five, few gain verbal fluency, but studies have rarely investigated whether family environmental factors contribute to the acquisition of verbal fluency. The present study utilized data from the Autism Diagnostic Interview-Revised to compare changes in verbal fluency for 404 individuals with autism from childhood to adolescence and adulthood. Socioeconomic factors were examined across fluency groups (i.e., those who did/did not achieve verbal fluency). Findings indicated that fully 60% of those who were minimally verbal in early childhood acquired verbal fluency in adolescence and adulthood. Parent socioeconomic status differed across fluency groups, suggesting the importance of environmental factors for individual development. En ligne : http://dx.doi.org/10.1007/s10803-020-04646-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452

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