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

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-4 (April 2017) . - p.1102-1112 Titre : Assessment of Caregiver Inventory for Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jane B. LANE, Auteur ; Amber R. SALTER, Auteur ; Nancy E. JONES, Auteur ; Gary CUTTER, Auteur ; Joseph HORRIGAN, Auteur ; Steve A. SKINNER, Auteur ; Walter E. KAUFMANN, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur Article en page(s) : p.1102-1112 Langues : Anglais (eng) Mots-clés : Rett syndrome  Caregiver  Inventory  MECP2  Factor analysis Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi square or Fisher’s exact test for categorical variables and t tests or Wilcoxon two-sample tests for continuous variables were utilized. Survey completed by 198 caregivers; 70 caregivers completed follow-up assessment. Exploratory factor analysis revealed good agreement for physical burden, emotional burden, and social burden. Internal reliability was high (Cronbach’s alpha 0.898). RTT CIA represents a reliable and valid measure, providing a needed metric of caregiver burden in this disorder. En ligne : http://dx.doi.org/10.1007/s10803-017-3034-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304 [article] Assessment of Caregiver Inventory for Rett Syndrome [Texte imprimé et/ou numérique] / Jane B. LANE, Auteur ; Amber R. SALTER, Auteur ; Nancy E. JONES, Auteur ; Gary CUTTER, Auteur ; Joseph HORRIGAN, Auteur ; Steve A. SKINNER, Auteur ; Walter E. KAUFMANN, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur . - p.1102-1112. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-4 (April 2017) . - p.1102-1112 Mots-clés : Rett syndrome  Caregiver  Inventory  MECP2  Factor analysis Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi square or Fisher’s exact test for categorical variables and t tests or Wilcoxon two-sample tests for continuous variables were utilized. Survey completed by 198 caregivers; 70 caregivers completed follow-up assessment. Exploratory factor analysis revealed good agreement for physical burden, emotional burden, and social burden. Internal reliability was high (Cronbach’s alpha 0.898). RTT CIA represents a reliable and valid measure, providing a needed metric of caregiver burden in this disorder. En ligne : http://dx.doi.org/10.1007/s10803-017-3034-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304

Brief Report: MECP2 Mutations in People Without Rett Syndrome / Bernhard SUTER in Journal of Autism and Developmental Disorders, 44-3 (March 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-3 (March 2014) . - p.703-711 Titre : Brief Report: MECP2 Mutations in People Without Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Bernhard SUTER, Auteur ; Diane TREADWELL-DEERING, Auteur ; Huda Y. ZOGHBI, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur Article en page(s) : p.703-711 Langues : Anglais (eng) Mots-clés : Rett syndrome  Autism  Neurodevelopmental disorders  MECP2  Epigenetics  Neurogenetics Index. décimale : PER Périodiques Résumé : Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient’s symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria. En ligne : http://dx.doi.org/10.1007/s10803-013-1902-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=225 [article] Brief Report: MECP2 Mutations in People Without Rett Syndrome [Texte imprimé et/ou numérique] / Bernhard SUTER, Auteur ; Diane TREADWELL-DEERING, Auteur ; Huda Y. ZOGHBI, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur . - p.703-711. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-3 (March 2014) . - p.703-711 Mots-clés : Rett syndrome  Autism  Neurodevelopmental disorders  MECP2  Epigenetics  Neurogenetics Index. décimale : PER Périodiques Résumé : Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient’s symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria. En ligne : http://dx.doi.org/10.1007/s10803-013-1902-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=225

Developmental delay in Rett syndrome: data from the natural history study / J. L. NEUL in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.20 Titre : Developmental delay in Rett syndrome: data from the natural history study Type de document : Texte imprimé et/ou numérique Auteurs : J. L. NEUL, Auteur ; J. B. LANE, Auteur ; H. S. LEE, Auteur ; S. GEERTS, Auteur ; J. O. BARRISH, Auteur ; F. ANNESE, Auteur ; L. M. BAGGETT, Auteur ; K. BARNES, Auteur ; S. A. SKINNER, Auteur ; K. J. MOTIL, Auteur ; Daniel G. GLAZE, Auteur ; W. E. KAUFMANN, Auteur ; A. K. PERCY, Auteur Article en page(s) : p.20 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Early development appears normal in Rett syndrome (OMIM #312750) and may be more apparent than real. A major purpose of the Rett Syndrome (RTT) Natural History Study (NHS) was to examine achievement of developmental skills or abilities in classic and atypical RTT and assess phenotype-genotype relations in classic RTT. METHODS: Developmental skills in four realms, gross and fine motor, and receptive and expressive communication from initial enrollment and longitudinal assessments for up to 7 years, were assessed from 542 females meeting criteria for classic RTT and 96 females with atypical RTT divided into two groups: 50 with better and 46 with poorer functional scores. Data were analyzed for age at acquisition and loss of developmental features and for phenotype-genotype effects. Acquired, lost, and retained skills were compared between classic RTT and atypical RTT with better or poorer functional scores using Fisher's Exact test. To examine if the mean total score from the Motor Behavioral Assessment during follow-up differed for acquiring a skill, we used a generalized estimating equation assuming compound symmetry correlation structure within a subject. A general linear model was used to examine whether the mean age of acquisition or loss of a developmental skill differed by mutation type. P values <0.05 were considered significant and were two-sided without adjustment for multiple testing. Statistical analyses utilized SAS 9.3 (SAS Institute, Cary, NC, USA). RESULTS: Early developmental skills or abilities were often acquired albeit later than normal. More complex motor and communication acquisitions were delayed or absent. Clinical severity was less in those achieving the respective skill. Individuals with R133C, R294X, and R306C point mutations and 3' truncations tended to have better developmental outcomes. CONCLUSIONS: Early developmental skills were acquired by many, but clear differences from normal emerged, particularly in skills expected after age 6 months. When comparing clinical severity, greater acquisition of specific skills was associated with specific mutations, confirming the impression that these mutations confer milder developmental abnormalities. These data may serve for planning and interpretation of early intervention studies in RTT. TRIAL REGISTRATION: This NHS study, clinicaltrials.gov (NCT00296764), represents the largest group of RTT participants assessed repeatedly by direct examination. En ligne : http://dx.doi.org/10.1186/1866-1955-6-20 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Developmental delay in Rett syndrome: data from the natural history study [Texte imprimé et/ou numérique] / J. L. NEUL, Auteur ; J. B. LANE, Auteur ; H. S. LEE, Auteur ; S. GEERTS, Auteur ; J. O. BARRISH, Auteur ; F. ANNESE, Auteur ; L. M. BAGGETT, Auteur ; K. BARNES, Auteur ; S. A. SKINNER, Auteur ; K. J. MOTIL, Auteur ; Daniel G. GLAZE, Auteur ; W. E. KAUFMANN, Auteur ; A. K. PERCY, Auteur . - p.20. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.20 Index. décimale : PER Périodiques Résumé : BACKGROUND: Early development appears normal in Rett syndrome (OMIM #312750) and may be more apparent than real. A major purpose of the Rett Syndrome (RTT) Natural History Study (NHS) was to examine achievement of developmental skills or abilities in classic and atypical RTT and assess phenotype-genotype relations in classic RTT. METHODS: Developmental skills in four realms, gross and fine motor, and receptive and expressive communication from initial enrollment and longitudinal assessments for up to 7 years, were assessed from 542 females meeting criteria for classic RTT and 96 females with atypical RTT divided into two groups: 50 with better and 46 with poorer functional scores. Data were analyzed for age at acquisition and loss of developmental features and for phenotype-genotype effects. Acquired, lost, and retained skills were compared between classic RTT and atypical RTT with better or poorer functional scores using Fisher's Exact test. To examine if the mean total score from the Motor Behavioral Assessment during follow-up differed for acquiring a skill, we used a generalized estimating equation assuming compound symmetry correlation structure within a subject. A general linear model was used to examine whether the mean age of acquisition or loss of a developmental skill differed by mutation type. P values <0.05 were considered significant and were two-sided without adjustment for multiple testing. Statistical analyses utilized SAS 9.3 (SAS Institute, Cary, NC, USA). RESULTS: Early developmental skills or abilities were often acquired albeit later than normal. More complex motor and communication acquisitions were delayed or absent. Clinical severity was less in those achieving the respective skill. Individuals with R133C, R294X, and R306C point mutations and 3' truncations tended to have better developmental outcomes. CONCLUSIONS: Early developmental skills were acquired by many, but clear differences from normal emerged, particularly in skills expected after age 6 months. When comparing clinical severity, greater acquisition of specific skills was associated with specific mutations, confirming the impression that these mutations confer milder developmental abnormalities. These data may serve for planning and interpretation of early intervention studies in RTT. TRIAL REGISTRATION: This NHS study, clinicaltrials.gov (NCT00296764), represents the largest group of RTT participants assessed repeatedly by direct examination. En ligne : http://dx.doi.org/10.1186/1866-1955-6-20 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Sleep Problems / Anne E. PORTER

Public ISBD in Autism Spectrum Disorders / David G. AMARAL Titre : Sleep Problems Type de document : Texte imprimé et/ou numérique Auteurs : Anne E. PORTER, Auteur ; Daniel G. GLAZE, Auteur Année de publication : 2011 Importance : p.431-444 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 in Autism Spectrum Disorders / David G. AMARAL Sleep Problems [Texte imprimé et/ou numérique] / Anne E. PORTER, Auteur ; Daniel G. GLAZE, Auteur . - 2011 . - p.431-444. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139

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