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Dietary intake and growth deficits in Rett syndrome-A cross-section study / L. C. WONG in Autism Research, 14-7 (July 2021)
[article]
Titre : Dietary intake and growth deficits in Rett syndrome-A cross-section study Type de document : Texte imprimé et/ou numérique Auteurs : L. C. WONG, Auteur ; Y. T. CHEN, Auteur ; S. M. TSAI, Auteur ; Y. J. LIN, Auteur ; C. J. HSU, Auteur ; H. P. WANG, Auteur ; S. C. HU, Auteur ; H. Y. SHEN, Auteur ; W. C. TSAI, Auteur ; W. T. LEE, Auteur Article en page(s) : p.1512-1521 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder Body Height Eating Humans Methyl-CpG-Binding Protein 2/genetics Mutation Rett Syndrome/complications/genetics Rett syndrome clinical severity dietary intakes dystonia growth deficit nutrition Index. décimale : PER Périodiques Résumé : Growth deficit is a common comorbidity and one of the supportive criteria in Rett syndrome (RTT). This study aimed to investigate the impact of dystonia, dietary intakes, and clinical severities on growth patterns in a Taiwanese cohort of RTT. We recruited 44 RTT patients with MECP2 mutation for analysis. For individuals ?18?years of age, in comparison to the RTT-specific growth chart which comprised American RTT cohort, the body height was right-shifted to a higher percentile, whereas the body weight was left-shifted to a lower percentile. Furthermore, the body mass index was significantly decreased when compared to RTT-specific growth chart (p = 0.01). Higher degree of overall disease severity (odd ratio = 1.159; 95% CI = 1.063-1.264; p = 0.001) and hand use impairment (odd ratio = 2.017; 95% CI = 1.037, 3.921; p = 0.039) were associated with more severe growth patterns. All individuals had dystonia at certain variable degrees. The dystonia worsened with age (p?0.001) but did not have significant impact on growth deficit. Most of our cohort had adequate protein (97.37%) and energy (58.97%) intakes. The fiber intakes were generally low, with about 38 (97.4%) individuals did not meet the daily reference intakes of fiber. The protein intake was significantly lower in individuals with severe growth deficit (p = 0.04). Our study shows that ethnicity should be considered when comparing RTT individuals' growth pattern to the RTT-specific growth chart. Further, disease severity, genotypes, and nutrition exert important impacts on RTT-growth pattern. LAY SUMMARY: Growth impairment is an important issue in Rett syndrome and the underlying patho-mechanism is multifactorial. Higher degree of overall disease severity and hand use impairment were associated with more severe growth pattern deficits. Although all individuals had dystonia at certain variable degrees and the dystonia worsened with age, but it did not have significant impact on growth deficit. Nutritional intakes may partially affect growth. Furthermore, ethnicity should be considered when comparing RTT individuals' growth pattern to the RTT-specific growth chart. En ligne : http://dx.doi.org/10.1002/aur.2508 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449
in Autism Research > 14-7 (July 2021) . - p.1512-1521[article] Dietary intake and growth deficits in Rett syndrome-A cross-section study [Texte imprimé et/ou numérique] / L. C. WONG, Auteur ; Y. T. CHEN, Auteur ; S. M. TSAI, Auteur ; Y. J. LIN, Auteur ; C. J. HSU, Auteur ; H. P. WANG, Auteur ; S. C. HU, Auteur ; H. Y. SHEN, Auteur ; W. C. TSAI, Auteur ; W. T. LEE, Auteur . - p.1512-1521.
Langues : Anglais (eng)
in Autism Research > 14-7 (July 2021) . - p.1512-1521
Mots-clés : Autism Spectrum Disorder Body Height Eating Humans Methyl-CpG-Binding Protein 2/genetics Mutation Rett Syndrome/complications/genetics Rett syndrome clinical severity dietary intakes dystonia growth deficit nutrition Index. décimale : PER Périodiques Résumé : Growth deficit is a common comorbidity and one of the supportive criteria in Rett syndrome (RTT). This study aimed to investigate the impact of dystonia, dietary intakes, and clinical severities on growth patterns in a Taiwanese cohort of RTT. We recruited 44 RTT patients with MECP2 mutation for analysis. For individuals ?18?years of age, in comparison to the RTT-specific growth chart which comprised American RTT cohort, the body height was right-shifted to a higher percentile, whereas the body weight was left-shifted to a lower percentile. Furthermore, the body mass index was significantly decreased when compared to RTT-specific growth chart (p = 0.01). Higher degree of overall disease severity (odd ratio = 1.159; 95% CI = 1.063-1.264; p = 0.001) and hand use impairment (odd ratio = 2.017; 95% CI = 1.037, 3.921; p = 0.039) were associated with more severe growth patterns. All individuals had dystonia at certain variable degrees. The dystonia worsened with age (p?0.001) but did not have significant impact on growth deficit. Most of our cohort had adequate protein (97.37%) and energy (58.97%) intakes. The fiber intakes were generally low, with about 38 (97.4%) individuals did not meet the daily reference intakes of fiber. The protein intake was significantly lower in individuals with severe growth deficit (p = 0.04). Our study shows that ethnicity should be considered when comparing RTT individuals' growth pattern to the RTT-specific growth chart. Further, disease severity, genotypes, and nutrition exert important impacts on RTT-growth pattern. LAY SUMMARY: Growth impairment is an important issue in Rett syndrome and the underlying patho-mechanism is multifactorial. Higher degree of overall disease severity and hand use impairment were associated with more severe growth pattern deficits. Although all individuals had dystonia at certain variable degrees and the dystonia worsened with age, but it did not have significant impact on growth deficit. Nutritional intakes may partially affect growth. Furthermore, ethnicity should be considered when comparing RTT individuals' growth pattern to the RTT-specific growth chart. En ligne : http://dx.doi.org/10.1002/aur.2508 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 Movement Disorders and Syndromic Autism: A Systematic Review / L. BELL in Journal of Autism and Developmental Disorders, 49-1 (January 2019)
[article]
Titre : Movement Disorders and Syndromic Autism: A Systematic Review Type de document : Texte imprimé et/ou numérique Auteurs : L. BELL, Auteur ; A. WITTKOWSKI, Auteur ; D. J. HARE, Auteur Article en page(s) : p.54-67 Langues : Anglais (eng) Mots-clés : Angelman Ataxia Autism Dystonia Extra-pyramidal Movement disorder Retts Rigidity Tremor Index. décimale : PER Périodiques Résumé : Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A systematic search of Medline, Embase, PsychINFO and CINAHL on the prevalence of specific movement disorder in syndromic autism associated with specific genetic syndromes identified 16 papers, all relating to Angelman syndrome or Rett syndrome. Prevalence rates of 72.7-100% and 25.0-27.3% were reported for ataxia and tremor, respectively, in Angelman syndrome. In Rett syndrome, prevalence rates of 43.6-50% were reported for ataxia and 27.3-48.3% for tremor with additional reports of dystonia, rigidity and pyramidal signs. However, reliable assessment measures were rarely used and recruitment was often not described in sufficient detail. En ligne : http://dx.doi.org/10.1007/s10803-018-3658-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376
in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.54-67[article] Movement Disorders and Syndromic Autism: A Systematic Review [Texte imprimé et/ou numérique] / L. BELL, Auteur ; A. WITTKOWSKI, Auteur ; D. J. HARE, Auteur . - p.54-67.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-1 (January 2019) . - p.54-67
Mots-clés : Angelman Ataxia Autism Dystonia Extra-pyramidal Movement disorder Retts Rigidity Tremor Index. décimale : PER Périodiques Résumé : Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A systematic search of Medline, Embase, PsychINFO and CINAHL on the prevalence of specific movement disorder in syndromic autism associated with specific genetic syndromes identified 16 papers, all relating to Angelman syndrome or Rett syndrome. Prevalence rates of 72.7-100% and 25.0-27.3% were reported for ataxia and tremor, respectively, in Angelman syndrome. In Rett syndrome, prevalence rates of 43.6-50% were reported for ataxia and 27.3-48.3% for tremor with additional reports of dystonia, rigidity and pyramidal signs. However, reliable assessment measures were rarely used and recruitment was often not described in sufficient detail. En ligne : http://dx.doi.org/10.1007/s10803-018-3658-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=376 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