1038 recherche sur le mot-clé 'Rett-syndrome'

Attention and communication in Rett Syndrome / Rosa Angela FABIO in Research in Autism Spectrum Disorders, 3-2 (April-june 2009)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 3-2 (April-june 2009) . - p.329-335 Titre : Attention and communication in Rett Syndrome Type de document : texte imprimé Auteurs : Rosa Angela FABIO, Auteur ; Alessandro ANTONIETTI, Auteur ; Ilaria CASTELLI, Auteur ; Antonella MARCHETTI, Auteur Année de publication : 2009 Article en page(s) : p.329-335 Langues : Anglais (eng) Mots-clés : Rett-Syndrome Communication Learning Attention Index. décimale : PER Périodiques Résumé : The study of selective attention and its influence on communication in patients with Rett Syndrome (RS), in which communication abilities are impaired is particularly relevant. The aim of this study was to analyse attention and communication abilities in RS. A sample of 20 children (10 girls with RS and 10 control girls, matched on mental age) were tested on both attention and non-verbal communication abilities. Results showed that girls with RS have specific deficits in the ability to attend selectively to the relevant sources of information, and that they pay attention to irrelevant stimuli. Results related to non-verbal communication partially show specific impairment in girls with RS. Educational implications are discussed. En ligne : http://dx.doi.org/10.1016/j.rasd.2008.07.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=708 [article] Attention and communication in Rett Syndrome [texte imprimé] / Rosa Angela FABIO, Auteur ; Alessandro ANTONIETTI, Auteur ; Ilaria CASTELLI, Auteur ; Antonella MARCHETTI, Auteur . - 2009 . - p.329-335. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 3-2 (April-june 2009) . - p.329-335 Mots-clés : Rett-Syndrome Communication Learning Attention Index. décimale : PER Périodiques Résumé : The study of selective attention and its influence on communication in patients with Rett Syndrome (RS), in which communication abilities are impaired is particularly relevant. The aim of this study was to analyse attention and communication abilities in RS. A sample of 20 children (10 girls with RS and 10 control girls, matched on mental age) were tested on both attention and non-verbal communication abilities. Results showed that girls with RS have specific deficits in the ability to attend selectively to the relevant sources of information, and that they pay attention to irrelevant stimuli. Results related to non-verbal communication partially show specific impairment in girls with RS. Educational implications are discussed. En ligne : http://dx.doi.org/10.1016/j.rasd.2008.07.005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=708

Development of a Video-based Evaluation Tool in Rett Syndrome / Sue FYFE in Journal of Autism and Developmental Disorders, 37-9 (October 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-9 (October 2007) . - p.1636-1646 Titre : Development of a Video-based Evaluation Tool in Rett Syndrome Type de document : texte imprimé Auteurs : Sue FYFE, Auteur ; Michael E. MSALL, Auteur ; Hayley C. LEONARD, Auteur ; Jenny DOWNS, Auteur ; C. ELLAWAY, Auteur ; Walter E. KAUFMANN, Auteur ; Céline PHILIPPE, Auteur ; C.L. LAURVICK, Auteur ; J. LISTER, Auteur ; B. BURFORD, Auteur ; O. MCILROY, Auteur ; Sheena REILLY, Auteur Année de publication : 2007 Article en page(s) : p.1636-1646 Langues : Anglais (eng) Mots-clés : Rett-syndrome Video-analysis Functional-ability Movement-disorder Behavioural-phenotype Participatory-research Index. décimale : PER Périodiques Résumé : This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). Components include a parent-report checklist, and video filming and coding protocols that contain items on eating, drinking, communication, hand function and movements, personal care and mobility. Ninety-seven of the 169 families who initially agreed to participate returned a videotape within 8 months of the first request. Subjects whose videos were returned had a similar age profile to those who did not provide a video but were more likely to have classical than atypical RTT. Evidence of the content and social validity and inter-rater reliability on 11 videos is provided. Video may provide detailed, objective assessment of function and behaviour in RTT. En ligne : http://dx.doi.org/10.1007/s10803-006-0293-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=174 [article] Development of a Video-based Evaluation Tool in Rett Syndrome [texte imprimé] / Sue FYFE, Auteur ; Michael E. MSALL, Auteur ; Hayley C. LEONARD, Auteur ; Jenny DOWNS, Auteur ; C. ELLAWAY, Auteur ; Walter E. KAUFMANN, Auteur ; Céline PHILIPPE, Auteur ; C.L. LAURVICK, Auteur ; J. LISTER, Auteur ; B. BURFORD, Auteur ; O. MCILROY, Auteur ; Sheena REILLY, Auteur . - 2007 . - p.1636-1646. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-9 (October 2007) . - p.1636-1646 Mots-clés : Rett-syndrome Video-analysis Functional-ability Movement-disorder Behavioural-phenotype Participatory-research Index. décimale : PER Périodiques Résumé : This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). Components include a parent-report checklist, and video filming and coding protocols that contain items on eating, drinking, communication, hand function and movements, personal care and mobility. Ninety-seven of the 169 families who initially agreed to participate returned a videotape within 8 months of the first request. Subjects whose videos were returned had a similar age profile to those who did not provide a video but were more likely to have classical than atypical RTT. Evidence of the content and social validity and inter-rater reliability on 11 videos is provided. Video may provide detailed, objective assessment of function and behaviour in RTT. En ligne : http://dx.doi.org/10.1007/s10803-006-0293-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=174

InterRett, a model for international data collection in a rare genetic disorder / Sandra LOUISE in Research in Autism Spectrum Disorders, 3-3 (July-September 2009)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 3-3 (July-September 2009) . - p.639-6959 Titre : InterRett, a model for international data collection in a rare genetic disorder Type de document : texte imprimé Auteurs : Sandra LOUISE, Auteur ; Sue FYFE, Auteur Année de publication : 2009 Article en page(s) : p.639-6959 Langues : Anglais (eng) Mots-clés : Rett-syndrome International-database Rare-disorder MECP2 Phenotype Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian Rett syndrome database (ARSD). It also explored the strengths and limitations of InterRett in comparison with other studies. A literature review compared InterRett with RTT population-based and case-based studies of 30 or more cases that investigated genotype and/or phenotype relationships. Questionnaire data were used to determine case status and to investigate the comparability of InterRett and ARSD. Twenty-four case series, five population-based studies and a MECP2 mutation database were identified of which 21 (70%) collected phenotype and genotype data. Only three studies were representative of their underlying case population and many had low numbers. Of 1114 InterRett subjects, 935 born after 1976 could be verified as Rett cases and compared with the 295 ARSD subjects. Although more InterRett families had higher education and occupation levels and their children were marginally less severe, the distribution of MECP2 mutation types was similar. En ligne : http://dx.doi.org/10.1016/j.rasd.2008.12.004 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=729 [article] InterRett, a model for international data collection in a rare genetic disorder [texte imprimé] / Sandra LOUISE, Auteur ; Sue FYFE, Auteur . - 2009 . - p.639-6959. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 3-3 (July-September 2009) . - p.639-6959 Mots-clés : Rett-syndrome International-database Rare-disorder MECP2 Phenotype Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian Rett syndrome database (ARSD). It also explored the strengths and limitations of InterRett in comparison with other studies. A literature review compared InterRett with RTT population-based and case-based studies of 30 or more cases that investigated genotype and/or phenotype relationships. Questionnaire data were used to determine case status and to investigate the comparability of InterRett and ARSD. Twenty-four case series, five population-based studies and a MECP2 mutation database were identified of which 21 (70%) collected phenotype and genotype data. Only three studies were representative of their underlying case population and many had low numbers. Of 1114 InterRett subjects, 935 born after 1976 could be verified as Rett cases and compared with the 295 ARSD subjects. Although more InterRett families had higher education and occupation levels and their children were marginally less severe, the distribution of MECP2 mutation types was similar. En ligne : http://dx.doi.org/10.1016/j.rasd.2008.12.004 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=729

Nosology and diagnosis of Rett Syndrome / Johnny L. MATSON in Research in Autism Spectrum Disorders, 2-4 (October 2008)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 2-4 (October 2008) . - p.601-611 Titre : Nosology and diagnosis of Rett Syndrome Type de document : texte imprimé Auteurs : Johnny L. MATSON, Auteur ; Jessica A. BOISJOLI, Auteur ; Jill C. FODSTAD, Auteur Année de publication : 2008 Article en page(s) : p.601-611 Langues : Anglais (eng) Mots-clés : Rett-Syndrome Nosology Assessment Autism-spectrum-disorders Genetics Checklists Behavioral-symptoms Index. décimale : PER Périodiques Résumé : Rett Syndrome is one of the least commonly occurring autism spectrum disorders (ASD), but certainly one of the most devastating. A genetic profile has been identified, but checklists still have an important role for prescreening, especially before expensive genetic testing, and to provide precise strengths and weaknesses with respect to the core features of the disorder. Furthermore, research is now demonstrating subprofiles of genetic mutation which may be linked to profiles of behavioral responding and general symptom profiles. We review the literature on the nosology and assessment of Rett Syndrome in light of these developments. Specific symptoms and assessment techniques are discussed and potential future research avenues are reviewed with an eye to strengths and weaknesses of the current knowledge base. En ligne : http://dx.doi.org/10.1016/j.rasd.2007.12.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=607 [article] Nosology and diagnosis of Rett Syndrome [texte imprimé] / Johnny L. MATSON, Auteur ; Jessica A. BOISJOLI, Auteur ; Jill C. FODSTAD, Auteur . - 2008 . - p.601-611. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 2-4 (October 2008) . - p.601-611 Mots-clés : Rett-Syndrome Nosology Assessment Autism-spectrum-disorders Genetics Checklists Behavioral-symptoms Index. décimale : PER Périodiques Résumé : Rett Syndrome is one of the least commonly occurring autism spectrum disorders (ASD), but certainly one of the most devastating. A genetic profile has been identified, but checklists still have an important role for prescreening, especially before expensive genetic testing, and to provide precise strengths and weaknesses with respect to the core features of the disorder. Furthermore, research is now demonstrating subprofiles of genetic mutation which may be linked to profiles of behavioral responding and general symptom profiles. We review the literature on the nosology and assessment of Rett Syndrome in light of these developments. Specific symptoms and assessment techniques are discussed and potential future research avenues are reviewed with an eye to strengths and weaknesses of the current knowledge base. En ligne : http://dx.doi.org/10.1016/j.rasd.2007.12.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=607

The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population / Deidra YOUNG in Research in Autism Spectrum Disorders, 5-1 (January-March 2011)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 5-1 (January-March 2011) . - p.442-449 Titre : The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population Type de document : texte imprimé Auteurs : Deidra YOUNG, Auteur ; Helen LEONARD, Auteur ; Carol BOWER, Auteur ; Ami BEBBINGTON, Auteur ; Nick DE KLERK, Auteur ; Lakshmi NAGARAJAN, Auteur Année de publication : 2011 Article en page(s) : p.442-449 Langues : Anglais (eng) Mots-clés : Rett-syndrome Health-status Health-service-use Trajectory Longitudinal MECP2-mutation Multilevel-regression Index. décimale : PER Périodiques Résumé : This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation type. Data were obtained from questionnaires administered over 6 years to 256 participants from the Australian Rett Syndrome Database. Health status (episodes of illness and medication load) and health service use (general practitioner and specialist visits and hospital stays) were summarized into composite scores with principal component analysis. Linear and mixed regression models examined effects of mutation type and other variables on these scores over time. For some mutations (such as p.R255X and p.R168X) health status was poorer at a younger age and improved over time, while for p.R133C it was better at a younger age and deteriorated with time. For those with p.R133C health service use was lowest at a younger age and highest at 25 years. With other mutations, such as p.R255X, p.R270X, p.R294X, C terminal and p.R306C, health service use was higher at a younger age, but dropped off considerably by 25 years of age. Health service use generally declined in parallel with deterioration in health status, although this pattern differed by mutation type, demonstrating important variability in the course of Rett syndrome. En ligne : http://dx.doi.org/10.1016/j.rasd.2010.06.007 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=111 [article] The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population [texte imprimé] / Deidra YOUNG, Auteur ; Helen LEONARD, Auteur ; Carol BOWER, Auteur ; Ami BEBBINGTON, Auteur ; Nick DE KLERK, Auteur ; Lakshmi NAGARAJAN, Auteur . - 2011 . - p.442-449. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 5-1 (January-March 2011) . - p.442-449 Mots-clés : Rett-syndrome Health-status Health-service-use Trajectory Longitudinal MECP2-mutation Multilevel-regression Index. décimale : PER Périodiques Résumé : This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation type. Data were obtained from questionnaires administered over 6 years to 256 participants from the Australian Rett Syndrome Database. Health status (episodes of illness and medication load) and health service use (general practitioner and specialist visits and hospital stays) were summarized into composite scores with principal component analysis. Linear and mixed regression models examined effects of mutation type and other variables on these scores over time. For some mutations (such as p.R255X and p.R168X) health status was poorer at a younger age and improved over time, while for p.R133C it was better at a younger age and deteriorated with time. For those with p.R133C health service use was lowest at a younger age and highest at 25 years. With other mutations, such as p.R255X, p.R270X, p.R294X, C terminal and p.R306C, health service use was higher at a younger age, but dropped off considerably by 25 years of age. Health service use generally declined in parallel with deterioration in health status, although this pattern differed by mutation type, demonstrating important variability in the course of Rett syndrome. En ligne : http://dx.doi.org/10.1016/j.rasd.2010.06.007 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=111

Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study / Caroline B. BUCHANAN in Journal of Neurodevelopmental Disorders, 14 (2022)  

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Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales / Katherine V. BARNES in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

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Assessment of Caregiver Inventory for Rett Syndrome / Jane B. LANE in Journal of Autism and Developmental Disorders, 47-4 (April 2017)  

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Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndrome / Jenny DOWNS in Journal of Neurodevelopmental Disorders, 16 (2024)  

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Autistic disorder symptoms in Rett syndrome / Josette WULFFAERT in Autism, 13-6 (November 2009)  

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