Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome / Marie M. CHANNELL in Journal of Autism and Developmental Disorders, 49-9 (September 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3543-3556 Titre : Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Marie M. CHANNELL, Auteur ; Laura J. HAHN, Auteur ; T. C. ROSSER, Auteur ; D. HAMILTON, Auteur ; Michelle A. FRANK-CRAWFORD, Auteur ; George T. CAPONE, Auteur ; S. L. SHERMAN, Auteur Article en page(s) : p.3543-3556 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Down syndrome  Intellectual disability  Maladaptive behavior  Psychiatric comorbidities Index. décimale : PER Périodiques Résumé : We examined autism spectrum disorder (ASD) risk in a large national sample of 203 individuals with Down syndrome, 6-25 years old, to determine the association of ASD risk with age, sex, IQ, adaptive behaviors, and maladaptive behaviors. We used a two-pronged approach by (1) considering ASD symptomatology continuously across the sample of individuals with DS and examining associations with each characteristic, and (2) dichotomizing our sample into high and low ASD risk groups and comparing groups on each characteristic. The pattern of results was largely similar across both types of analyses. ASD symptomatology/risk was negatively associated with IQ and adaptive behaviors and positively associated with certain types of maladaptive behaviors. Clinical implications for screening and therapeutic purposes are discussed. En ligne : http://dx.doi.org/10.1007/s10803-019-04074-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405 [article] Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome [Texte imprimé et/ou numérique] / Marie M. CHANNELL, Auteur ; Laura J. HAHN, Auteur ; T. C. ROSSER, Auteur ; D. HAMILTON, Auteur ; Michelle A. FRANK-CRAWFORD, Auteur ; George T. CAPONE, Auteur ; S. L. SHERMAN, Auteur . - p.3543-3556. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3543-3556 Mots-clés : Autism spectrum disorder  Down syndrome  Intellectual disability  Maladaptive behavior  Psychiatric comorbidities Index. décimale : PER Périodiques Résumé : We examined autism spectrum disorder (ASD) risk in a large national sample of 203 individuals with Down syndrome, 6-25 years old, to determine the association of ASD risk with age, sex, IQ, adaptive behaviors, and maladaptive behaviors. We used a two-pronged approach by (1) considering ASD symptomatology continuously across the sample of individuals with DS and examining associations with each characteristic, and (2) dichotomizing our sample into high and low ASD risk groups and comparing groups on each characteristic. The pattern of results was largely similar across both types of analyses. ASD symptomatology/risk was negatively associated with IQ and adaptive behaviors and positively associated with certain types of maladaptive behaviors. Clinical implications for screening and therapeutic purposes are discussed. En ligne : http://dx.doi.org/10.1007/s10803-019-04074-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405

Development and validation of the Arizona Cognitive Test Battery for Down syndrome / J. O. EDGIN in Journal of Neurodevelopmental Disorders, 2-3 (September 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-3 (September 2010) . - p.149-164 Titre : Development and validation of the Arizona Cognitive Test Battery for Down syndrome Type de document : Texte imprimé et/ou numérique Auteurs : J. O. EDGIN, Auteur ; G. M. MASON, Auteur ; Melissa J. ALLMAN, Auteur ; George T. CAPONE, Auteur ; I. DELEON, Auteur ; C. MASLEN, Auteur ; R. H. REEVES, Auteur ; S. L. SHERMAN, Auteur ; L. NADEL, Auteur Article en page(s) : p.149-164 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Neurocognitive assessment in individuals with intellectual disabilities requires a well-validated test battery. To meet this need, the Arizona Cognitive Test Battery (ACTB) has been developed specifically to assess the cognitive phenotype in Down syndrome (DS). The ACTB includes neuropsychological assessments chosen to 1) assess a range of skills, 2) be non-verbal so as to not confound the neuropsychological assessment with language demands, 3) have distributional properties appropriate for research studies to identify genetic modifiers of variation, 4) show sensitivity to within and between sample differences, 5) have specific correlates with brain function, and 6) be applicable to a wide age range and across contexts. The ACTB includes tests of general cognitive ability and prefrontal, hippocampal and cerebellar function. These tasks were drawn from the Cambridge Neuropsychological Testing Automated Battery (CANTAB) and other established paradigms. Alongside the cognitive testing battery we administered benchmark and parent-report assessments of cognition and behavior. Individuals with DS (n=74, ages 7-38 years) and mental age (MA) matched controls (n=50, ages 3-8 years) were tested across 3 sites. A subsample of these groups were used for between-group comparisons, including 55 individuals with DS and 36 mental age matched controls. The ACTB allows for low floor performance levels and participant loss. Floor effects were greater in younger children. Individuals with DS were impaired on a number ACTB tests in comparison to a MA-matched sample, with some areas of spared ability, particularly on tests requiring extensive motor coordination. Battery measures correlated with parent report of behavior and development. The ACTB provided consistent results across contexts, including home vs. lab visits, cross-site, and among individuals with a wide range of socio-economic backgrounds and differences in ethnicity. The ACTB will be useful in a range of outcome studies, including clinical trials and the identification of important genetic components of cognitive disability. En ligne : http://dx.doi.org/10.1007/s11689-010-9054-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Development and validation of the Arizona Cognitive Test Battery for Down syndrome [Texte imprimé et/ou numérique] / J. O. EDGIN, Auteur ; G. M. MASON, Auteur ; Melissa J. ALLMAN, Auteur ; George T. CAPONE, Auteur ; I. DELEON, Auteur ; C. MASLEN, Auteur ; R. H. REEVES, Auteur ; S. L. SHERMAN, Auteur ; L. NADEL, Auteur . - p.149-164. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-3 (September 2010) . - p.149-164 Index. décimale : PER Périodiques Résumé : Neurocognitive assessment in individuals with intellectual disabilities requires a well-validated test battery. To meet this need, the Arizona Cognitive Test Battery (ACTB) has been developed specifically to assess the cognitive phenotype in Down syndrome (DS). The ACTB includes neuropsychological assessments chosen to 1) assess a range of skills, 2) be non-verbal so as to not confound the neuropsychological assessment with language demands, 3) have distributional properties appropriate for research studies to identify genetic modifiers of variation, 4) show sensitivity to within and between sample differences, 5) have specific correlates with brain function, and 6) be applicable to a wide age range and across contexts. The ACTB includes tests of general cognitive ability and prefrontal, hippocampal and cerebellar function. These tasks were drawn from the Cambridge Neuropsychological Testing Automated Battery (CANTAB) and other established paradigms. Alongside the cognitive testing battery we administered benchmark and parent-report assessments of cognition and behavior. Individuals with DS (n=74, ages 7-38 years) and mental age (MA) matched controls (n=50, ages 3-8 years) were tested across 3 sites. A subsample of these groups were used for between-group comparisons, including 55 individuals with DS and 36 mental age matched controls. The ACTB allows for low floor performance levels and participant loss. Floor effects were greater in younger children. Individuals with DS were impaired on a number ACTB tests in comparison to a MA-matched sample, with some areas of spared ability, particularly on tests requiring extensive motor coordination. Battery measures correlated with parent report of behavior and development. The ACTB provided consistent results across contexts, including home vs. lab visits, cross-site, and among individuals with a wide range of socio-economic backgrounds and differences in ethnicity. The ACTB will be useful in a range of outcome studies, including clinical trials and the identification of important genetic components of cognitive disability. En ligne : http://dx.doi.org/10.1007/s11689-010-9054-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI) / S. L. SHERMAN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.26 Titre : Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI) Type de document : Texte imprimé et/ou numérique Auteurs : S. L. SHERMAN, Auteur ; E. C. CURNOW, Auteur ; C. A. EASLEY, Auteur ; P. JIN, Auteur ; R. K. HUKEMA, Auteur ; M. I. TEJADA, Auteur ; R. WILLEMSEN, Auteur ; K. USDIN, Auteur Article en page(s) : p.26 Langues : Anglais (eng) Mots-clés : CGG repeat  Fertility  Fragile X syndrome  Premature ovarian failure  Primary ovarian insufficiency  Repeat expansion disorder Index. décimale : PER Périodiques Résumé : Fragile X-associated primary ovarian insufficiency (FXPOI) is among the family of disorders caused by the expansion of a CGG repeat sequence in the 5' untranslated region of the X-linked gene FMR1. About 20% of women who carry the premutation allele (55 to 200 unmethylated CGG repeats) develop hypergonadotropic hypogonadism and cease menstruating before age 40. Some proportion of those who are still cycling show hormonal profiles indicative of ovarian dysfunction. FXPOI leads to subfertility and an increased risk of medical conditions associated with early estrogen deficiency. Little progress has been made in understanding the etiology of this clinically significant disorder. Understanding the molecular mechanisms of FXPOI requires a detailed knowledge of ovarian FMR1 mRNA and FMRP's function. In humans, non-invasive methods to discriminate the mechanisms of the premutation on ovarian function are not available, thus necessitating the development of model systems. Vertebrate (mouse and rat) and invertebrate (Drosophila melanogaster) animal studies for the FMR1 premutation and ovarian function exist and have been instrumental in advancing our understanding of the disease phenotype. For example, rodent models have shown that FMRP is highly expressed in oocytes where it is important for folliculogenesis. The two premutation mouse models studied to date show evidence of ovarian dysfunction and, together, suggest that the long repeat in the transcript itself may have some pathological effect quite apart from any effect of the toxic protein. Further, ovarian morphology in young animals appears normal and the primordial follicle pool size does not differ from that of wild-type animals. However, there is a progressive premature decline in the levels of most follicle classes. Observations also include granulosa cell abnormalities and altered gene expression patterns. Further comparisons of these models are now needed to gain insight into the etiology of the ovarian dysfunction. Premutation model systems in non-human primates and those based on induced pluripotent stem cells show particular promise and will complement current models. Here, we review the characterization of the current models and describe the development and potential of the new models. Finally, we will discuss some of the molecular mechanisms that might be responsible for FXPOI. En ligne : http://dx.doi.org/10.1186/1866-1955-6-26 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI) [Texte imprimé et/ou numérique] / S. L. SHERMAN, Auteur ; E. C. CURNOW, Auteur ; C. A. EASLEY, Auteur ; P. JIN, Auteur ; R. K. HUKEMA, Auteur ; M. I. TEJADA, Auteur ; R. WILLEMSEN, Auteur ; K. USDIN, Auteur . - p.26. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.26 Mots-clés : CGG repeat  Fertility  Fragile X syndrome  Premature ovarian failure  Primary ovarian insufficiency  Repeat expansion disorder Index. décimale : PER Périodiques Résumé : Fragile X-associated primary ovarian insufficiency (FXPOI) is among the family of disorders caused by the expansion of a CGG repeat sequence in the 5' untranslated region of the X-linked gene FMR1. About 20% of women who carry the premutation allele (55 to 200 unmethylated CGG repeats) develop hypergonadotropic hypogonadism and cease menstruating before age 40. Some proportion of those who are still cycling show hormonal profiles indicative of ovarian dysfunction. FXPOI leads to subfertility and an increased risk of medical conditions associated with early estrogen deficiency. Little progress has been made in understanding the etiology of this clinically significant disorder. Understanding the molecular mechanisms of FXPOI requires a detailed knowledge of ovarian FMR1 mRNA and FMRP's function. In humans, non-invasive methods to discriminate the mechanisms of the premutation on ovarian function are not available, thus necessitating the development of model systems. Vertebrate (mouse and rat) and invertebrate (Drosophila melanogaster) animal studies for the FMR1 premutation and ovarian function exist and have been instrumental in advancing our understanding of the disease phenotype. For example, rodent models have shown that FMRP is highly expressed in oocytes where it is important for folliculogenesis. The two premutation mouse models studied to date show evidence of ovarian dysfunction and, together, suggest that the long repeat in the transcript itself may have some pathological effect quite apart from any effect of the toxic protein. Further, ovarian morphology in young animals appears normal and the primordial follicle pool size does not differ from that of wild-type animals. However, there is a progressive premature decline in the levels of most follicle classes. Observations also include granulosa cell abnormalities and altered gene expression patterns. Further comparisons of these models are now needed to gain insight into the etiology of the ovarian dysfunction. Premutation model systems in non-human primates and those based on induced pluripotent stem cells show particular promise and will complement current models. Here, we review the characterization of the current models and describe the development and potential of the new models. Finally, we will discuss some of the molecular mechanisms that might be responsible for FXPOI. En ligne : http://dx.doi.org/10.1186/1866-1955-6-26 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

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