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Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability / Y. MORI in Journal of Autism and Developmental Disorders, 48-5 (May 2018)
[article]
Titre : Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Y. MORI, Auteur ; J. DOWNS, Auteur ; K. WONG, Auteur ; J. HEYWORTH, Auteur ; H. LEONARD, Auteur Article en page(s) : p.1651-1665 Langues : Anglais (eng) Mots-clés : Down syndrome Genetic disorder Intellectual disability Parental well-being Rett syndrome Sf-12 Index. décimale : PER Périodiques Résumé : Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6-72.2), emotional well-being was poorer than general female populations across age groups. Multivariate linear regression identified the poorest well-being in parents of children with the CDKL5 disorder, a rare but severe and complex encephalopathy, and negative associations with increased clinical severity irrespective of diagnosis. These findings are important for those providing healthcare and social services for these populations. En ligne : http://dx.doi.org/10.1007/s10803-017-3420-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355
in Journal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1651-1665[article] Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability [Texte imprimé et/ou numérique] / Y. MORI, Auteur ; J. DOWNS, Auteur ; K. WONG, Auteur ; J. HEYWORTH, Auteur ; H. LEONARD, Auteur . - p.1651-1665.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 48-5 (May 2018) . - p.1651-1665
Mots-clés : Down syndrome Genetic disorder Intellectual disability Parental well-being Rett syndrome Sf-12 Index. décimale : PER Périodiques Résumé : Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n = 187) and International CDKL5 Disorder (n = 168) Databases. Among 596 mothers (median age, years 43.7; 24.6-72.2), emotional well-being was poorer than general female populations across age groups. Multivariate linear regression identified the poorest well-being in parents of children with the CDKL5 disorder, a rare but severe and complex encephalopathy, and negative associations with increased clinical severity irrespective of diagnosis. These findings are important for those providing healthcare and social services for these populations. En ligne : http://dx.doi.org/10.1007/s10803-017-3420-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=355 Fragile X targeted pharmacotherapy: lessons learned and future directions / C. A. ERICKSON in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Fragile X targeted pharmacotherapy: lessons learned and future directions Type de document : Texte imprimé et/ou numérique Auteurs : C. A. ERICKSON, Auteur ; M. H. DAVENPORT, Auteur ; T. L. SCHAEFER, Auteur ; L. K. WINK, Auteur ; Ernest V. PEDAPATI, Auteur ; J. A. SWEENEY, Auteur ; S. E. FITZPATRICK, Auteur ; W. Ted BROWN, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Randi J. HAGERMAN, Auteur ; D. HESSL, Auteur ; W. E. KAUFMANN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur Article en page(s) : p.7 Langues : Anglais (eng) Mots-clés : Drug development Fragile X syndrome Genetic disorder Targeted treatments Translational treatment Index. décimale : PER Périodiques Résumé : Our understanding of fragile X syndrome (FXS) pathophysiology continues to improve and numerous potential drug targets have been identified. Yet, current prescribing practices are only symptom-based in order to manage difficult behaviors, as no drug to date is approved for the treatment of FXS. Drugs impacting a diversity of targets in the brain have been studied in recent FXS-specific clinical trials. While many drugs have focused on regulation of enhanced glutamatergic or deficient GABAergic neurotransmission, compounds studied have not been limited to these mechanisms. As a single-gene disorder, it was thought that FXS would have consistent drug targets that could be modulated with pharmacotherapy and lead to significant improvement. Unfortunately, despite promising results in FXS animal models, translational drug treatment development in FXS has largely failed. Future success in this field will depend on learning from past challenges to improve clinical trial design, choose appropriate outcome measures and age range choices, and find readily modulated drug targets. Even with many negative placebo-controlled study results, the field continues to move forward exploring both the new mechanistic drug approaches combined with ways to improve trial execution. This review summarizes the known phenotype and pathophysiology of FXS and past clinical trial rationale and results, and discusses current challenges facing the field and lessons from which to learn for future treatment development efforts. En ligne : http://dx.doi.org/10.1186/s11689-017-9186-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.7[article] Fragile X targeted pharmacotherapy: lessons learned and future directions [Texte imprimé et/ou numérique] / C. A. ERICKSON, Auteur ; M. H. DAVENPORT, Auteur ; T. L. SCHAEFER, Auteur ; L. K. WINK, Auteur ; Ernest V. PEDAPATI, Auteur ; J. A. SWEENEY, Auteur ; S. E. FITZPATRICK, Auteur ; W. Ted BROWN, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Randi J. HAGERMAN, Auteur ; D. HESSL, Auteur ; W. E. KAUFMANN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur . - p.7.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.7
Mots-clés : Drug development Fragile X syndrome Genetic disorder Targeted treatments Translational treatment Index. décimale : PER Périodiques Résumé : Our understanding of fragile X syndrome (FXS) pathophysiology continues to improve and numerous potential drug targets have been identified. Yet, current prescribing practices are only symptom-based in order to manage difficult behaviors, as no drug to date is approved for the treatment of FXS. Drugs impacting a diversity of targets in the brain have been studied in recent FXS-specific clinical trials. While many drugs have focused on regulation of enhanced glutamatergic or deficient GABAergic neurotransmission, compounds studied have not been limited to these mechanisms. As a single-gene disorder, it was thought that FXS would have consistent drug targets that could be modulated with pharmacotherapy and lead to significant improvement. Unfortunately, despite promising results in FXS animal models, translational drug treatment development in FXS has largely failed. Future success in this field will depend on learning from past challenges to improve clinical trial design, choose appropriate outcome measures and age range choices, and find readily modulated drug targets. Even with many negative placebo-controlled study results, the field continues to move forward exploring both the new mechanistic drug approaches combined with ways to improve trial execution. This review summarizes the known phenotype and pathophysiology of FXS and past clinical trial rationale and results, and discusses current challenges facing the field and lessons from which to learn for future treatment development efforts. En ligne : http://dx.doi.org/10.1186/s11689-017-9186-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349