Developmental delay in Rett syndrome: data from the natural history study / Jeffrey 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 Auteurs : Jeffrey L. NEUL, Auteur ; Jane B. LANE, Auteur ; Hye-Seung LEE, Auteur ; Suzanne GEERTS, Auteur ; Judy O. BARRISH, Auteur ; Fran ANNESE, Auteur ; Lauren McNair BAGGETT, Auteur ; Katherine BARNES, Auteur ; Steven A. SKINNER, Auteur ; Kathleen J. MOTIL, Auteur ; Daniel G. GLAZE, Auteur ; Walter E. KAUFMANN, Auteur ; Alan 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] / Jeffrey L. NEUL, Auteur ; Jane B. LANE, Auteur ; Hye-Seung LEE, Auteur ; Suzanne GEERTS, Auteur ; Judy O. BARRISH, Auteur ; Fran ANNESE, Auteur ; Lauren McNair BAGGETT, Auteur ; Katherine BARNES, Auteur ; Steven A. SKINNER, Auteur ; Kathleen J. MOTIL, Auteur ; Daniel G. GLAZE, Auteur ; Walter E. KAUFMANN, Auteur ; Alan 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

Developmental milestones and daily living skills in individuals with Angelman syndrome / Anjali SADHWANI in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Developmental milestones and daily living skills in individuals with Angelman syndrome Type de document : texte imprimé Auteurs : Anjali SADHWANI, Auteur ; Sonya POWERS, Auteur ; Anne WHEELER, Auteur ; Hillary MILLER, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Carlos A. BACINO, Auteur ; Steven A. SKINNER, Auteur ; Logan K. WINK, Auteur ; Craig A. ERICKSON, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Angelman Syndrome/physiopathology/genetics/complications  Activities of Daily Living  Female  Child, Preschool  Male  Child  Adolescent  Infant  Child Development/physiology  Longitudinal Studies  Motor Skills/physiology  Developmental Disabilities/etiology  Adult  Young Adult  Child development  Developmental disabilities  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants. METHODS: Caregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard model was applied to analyze differences in the probability of achievement of skills at various ages among five molecular subtypes of AS. RESULTS: Almost all individuals, regardless of molecular subtype, were able to walk with support by five years of age. By age 15, those with a deletion had at least a 50% probability of acquiring 17 out of 30 skills compared to 25 out of 30 skills among those without a deletion. Overall, fine and gross motor skills such as holding and reaching for small objects, sitting, and walking with support were achieved within a fairly narrow range of ages, while toileting, feeding, and hygiene skills tend to have greater variability in the ages at which these skills were achieved. Those without a deletion had a higher probability (25-92%) of achieving daily living skills such as independently toileting and dressing compared to those with a deletion (0-13%). Across all molecular subtypes, there was a low probability of achieving independence in bathing and brushing teeth. CONCLUSION: Individuals with AS without a deletion are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Many individuals with AS are unable to achieve daily living skills necessary for independent self-care. En ligne : https://dx.doi.org/10.1186/s11689-024-09548-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Developmental milestones and daily living skills in individuals with Angelman syndrome [texte imprimé] / Anjali SADHWANI, Auteur ; Sonya POWERS, Auteur ; Anne WHEELER, Auteur ; Hillary MILLER, Auteur ; Sarah Nelson POTTER, Auteur ; Sarika U. PETERS, Auteur ; Carlos A. BACINO, Auteur ; Steven A. SKINNER, Auteur ; Logan K. WINK, Auteur ; Craig A. ERICKSON, Auteur ; Lynne M. BIRD, Auteur ; Wen-Hann TAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Angelman Syndrome/physiopathology/genetics/complications  Activities of Daily Living  Female  Child, Preschool  Male  Child  Adolescent  Infant  Child Development/physiology  Longitudinal Studies  Motor Skills/physiology  Developmental Disabilities/etiology  Adult  Young Adult  Child development  Developmental disabilities  Intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants. METHODS: Caregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard model was applied to analyze differences in the probability of achievement of skills at various ages among five molecular subtypes of AS. RESULTS: Almost all individuals, regardless of molecular subtype, were able to walk with support by five years of age. By age 15, those with a deletion had at least a 50% probability of acquiring 17 out of 30 skills compared to 25 out of 30 skills among those without a deletion. Overall, fine and gross motor skills such as holding and reaching for small objects, sitting, and walking with support were achieved within a fairly narrow range of ages, while toileting, feeding, and hygiene skills tend to have greater variability in the ages at which these skills were achieved. Those without a deletion had a higher probability (25-92%) of achieving daily living skills such as independently toileting and dressing compared to those with a deletion (0-13%). Across all molecular subtypes, there was a low probability of achieving independence in bathing and brushing teeth. CONCLUSION: Individuals with AS without a deletion are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Many individuals with AS are unable to achieve daily living skills necessary for independent self-care. En ligne : https://dx.doi.org/10.1186/s11689-024-09548-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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