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Détail de l'auteur
Auteur J. B. LANE |
Documents disponibles écrits par cet auteur (2)
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Developmental delay in Rett syndrome: data from the natural history study / J. L. NEUL in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
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
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.20[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 Variable phenotypic expression of a MECP2 mutation in a family / K. AUGENSTEIN in Journal of Neurodevelopmental Disorders, 1-4 (December 2009)
[article]
Titre : Variable phenotypic expression of a MECP2 mutation in a family Type de document : Texte imprimé et/ou numérique Auteurs : K. AUGENSTEIN, Auteur ; J. B. LANE, Auteur ; A. HORTON, Auteur ; C. SCHANEN, Auteur ; A. K. PERCY, Auteur Article en page(s) : p.313 Langues : Anglais (eng) Mots-clés : Dystonia Mecp2 Male Mutation Phenotype-genotype Rett syndrome X chromosome inactivation Index. décimale : PER Périodiques Résumé : We report a three generation family in which five members, three females and two males, demonstrate a 44 bp deletion (1164-1207del44) in the MECP2 gene associated with Rett syndrome, leading to a truncation of the C-terminus of the protein. Two of the three females and both males do not meet RTT criteria whereas the youngest female has classic RTT. Both males demonstrated a clear pattern of progressive involvement including dystonia. The transmitting females do not demonstrate features of RTT as a result of unbalanced X chromosome inactivation (XCI) and were only identified as carriers following the evaluation of the affected males and the girl with classic RTT. As such, accurate assessment of the precise frequency of MECP2 mutations in carrier females with mild cognitive impairment or borderline cognitive function will be under-represented unless an affected offspring is recognized. Strategies for accurate diagnosis in such instances should be considered carefully. En ligne : http://dx.doi.org/10.1007/s11689-009-9034-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342
in Journal of Neurodevelopmental Disorders > 1-4 (December 2009) . - p.313[article] Variable phenotypic expression of a MECP2 mutation in a family [Texte imprimé et/ou numérique] / K. AUGENSTEIN, Auteur ; J. B. LANE, Auteur ; A. HORTON, Auteur ; C. SCHANEN, Auteur ; A. K. PERCY, Auteur . - p.313.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 1-4 (December 2009) . - p.313
Mots-clés : Dystonia Mecp2 Male Mutation Phenotype-genotype Rett syndrome X chromosome inactivation Index. décimale : PER Périodiques Résumé : We report a three generation family in which five members, three females and two males, demonstrate a 44 bp deletion (1164-1207del44) in the MECP2 gene associated with Rett syndrome, leading to a truncation of the C-terminus of the protein. Two of the three females and both males do not meet RTT criteria whereas the youngest female has classic RTT. Both males demonstrated a clear pattern of progressive involvement including dystonia. The transmitting females do not demonstrate features of RTT as a result of unbalanced X chromosome inactivation (XCI) and were only identified as carriers following the evaluation of the affected males and the girl with classic RTT. As such, accurate assessment of the precise frequency of MECP2 mutations in carrier females with mild cognitive impairment or borderline cognitive function will be under-represented unless an affected offspring is recognized. Strategies for accurate diagnosis in such instances should be considered carefully. En ligne : http://dx.doi.org/10.1007/s11689-009-9034-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342