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in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Rett Syndrome: Clinical Aspects Type de document : Texte imprimé et/ou numérique Auteurs : Daniel C. TARQUINIO, Auteur ; Alan K. PERCY, Auteur Année de publication : 2016 Importance : p.301-323 Langues : Anglais (eng) Mots-clés : Communication disorders Disease management Epidemiology Growth failure MECP2 Molecular targeted therapy Neurobiology Rett syndrome Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Rett syndrome (RTT) affects 1:10,000 females, causing psychomotor regression and stereotypical hand movements. In the past half century, many clinical, neurobiological, and genetic aspects of RTT have been clarified, including identification of methyl CpG binding protein 2 gene mutations in most. Although loss of language and hand function and problems with ambulation are core disabilities in the disorder, a host of comorbidities affect girls and women with RTT. A Rett specialist typically works closely with other medical professionals, including therapists, nutritionists, social workers, and medical consultants related to the various systems affected. Most girls have problems that require the help of a neurologist or epileptologist, a gastroenterologist, and an orthopedic surgeon, and many require endocrinology and cardiology consultation. Within the past few years, an explosion in the investigation of disease-specific treatments has occurred, and targeted drugs will soon be available to help girls and women with RTT. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00019-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Rett Syndrome: Clinical Aspects [Texte imprimé et/ou numérique] / Daniel C. TARQUINIO, Auteur ; Alan K. PERCY, Auteur . - 2016 . - p.301-323.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Communication disorders Disease management Epidemiology Growth failure MECP2 Molecular targeted therapy Neurobiology Rett syndrome Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Rett syndrome (RTT) affects 1:10,000 females, causing psychomotor regression and stereotypical hand movements. In the past half century, many clinical, neurobiological, and genetic aspects of RTT have been clarified, including identification of methyl CpG binding protein 2 gene mutations in most. Although loss of language and hand function and problems with ambulation are core disabilities in the disorder, a host of comorbidities affect girls and women with RTT. A Rett specialist typically works closely with other medical professionals, including therapists, nutritionists, social workers, and medical consultants related to the various systems affected. Most girls have problems that require the help of a neurologist or epileptologist, a gastroenterologist, and an orthopedic surgeon, and many require endocrinology and cardiology consultation. Within the past few years, an explosion in the investigation of disease-specific treatments has occurred, and targeted drugs will soon be available to help girls and women with RTT. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00019-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Assessment of Caregiver Inventory for Rett Syndrome / Jane B. LANE in Journal of Autism and Developmental Disorders, 47-4 (April 2017)
[article]
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
in Journal of Autism and Developmental Disorders > 47-4 (April 2017) . - p.1102-1112[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: Systematic Review of Rett Syndrome in Males / Brian REICHOW in Journal of Autism and Developmental Disorders, 45-10 (October 2015)
[article]
Titre : Brief Report: Systematic Review of Rett Syndrome in Males Type de document : Texte imprimé et/ou numérique Auteurs : Brian REICHOW, Auteur ; Annie GEORGE-PUSKAR, Auteur ; Tara LUTZ, Auteur ; Isaac C. SMITH, Auteur ; Fred R. VOLKMAR, Auteur Article en page(s) : p.3377-3383 Langues : Anglais (eng) Mots-clés : Rett syndrome Rett’s syndrome RTT Male Boy Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients. En ligne : http://dx.doi.org/10.1007/s10803-015-2519-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=268
in Journal of Autism and Developmental Disorders > 45-10 (October 2015) . - p.3377-3383[article] Brief Report: Systematic Review of Rett Syndrome in Males [Texte imprimé et/ou numérique] / Brian REICHOW, Auteur ; Annie GEORGE-PUSKAR, Auteur ; Tara LUTZ, Auteur ; Isaac C. SMITH, Auteur ; Fred R. VOLKMAR, Auteur . - p.3377-3383.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 45-10 (October 2015) . - p.3377-3383
Mots-clés : Rett syndrome Rett’s syndrome RTT Male Boy Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients. En ligne : http://dx.doi.org/10.1007/s10803-015-2519-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=268 Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome / D. HETTIARACHCHI in Journal of Autism and Developmental Disorders, 50-1 (January 2020)
[article]
Titre : Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : D. HETTIARACHCHI, Auteur ; N. F. NETHTHIKUMARA, Auteur ; B. A. P. S. PATHIRANA, Auteur ; V. H. W. DISSANAYAKE, Auteur Article en page(s) : p.118-126 Langues : Anglais (eng) Mots-clés : Methyl-CpG binding protein 2 Mutation profile Neurodevelopmental disorder Rtt Rett syndrome Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in 25% (n = 4), p.T158M in 25% (n = 4), p.R255X in 12.5% (n = 2), p.R133C in 12.5% (n = 2), p.R294X in 6.25% (n = 1), p.K177X in 6.25% (n = 1). Novel variants: a large deletion (c.868_1188del321) in 6.25% (n = 1) and a p.X499L in 6.25% (n = 1). We also looked at the genotype to phenotype correlation of these variants. Most of the mutations were C>T in CpG hot spot as seen in other populations. En ligne : http://dx.doi.org/10.1007/s10803-019-04230-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414
in Journal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.118-126[article] Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome [Texte imprimé et/ou numérique] / D. HETTIARACHCHI, Auteur ; N. F. NETHTHIKUMARA, Auteur ; B. A. P. S. PATHIRANA, Auteur ; V. H. W. DISSANAYAKE, Auteur . - p.118-126.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-1 (January 2020) . - p.118-126
Mots-clés : Methyl-CpG binding protein 2 Mutation profile Neurodevelopmental disorder Rtt Rett syndrome Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in 25% (n = 4), p.T158M in 25% (n = 4), p.R255X in 12.5% (n = 2), p.R133C in 12.5% (n = 2), p.R294X in 6.25% (n = 1), p.K177X in 6.25% (n = 1). Novel variants: a large deletion (c.868_1188del321) in 6.25% (n = 1) and a p.X499L in 6.25% (n = 1). We also looked at the genotype to phenotype correlation of these variants. Most of the mutations were C>T in CpG hot spot as seen in other populations. En ligne : http://dx.doi.org/10.1007/s10803-019-04230-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 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 Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales / K. V. BARNES in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
PermalinkAutonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study / J. MACKAY in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
PermalinkBrief Report: MECP2 Mutations in People Without Rett Syndrome / Bernhard SUTER in Journal of Autism and Developmental Disorders, 44-3 (March 2014)
PermalinkBrief Report: Modest but Clinically Meaningful Effects of Early Behavioral Intervention in Twins with Rett Syndrome-A Case Study / K. B. TITLESTAD in Journal of Autism and Developmental Disorders, 49-12 (December 2019)
PermalinkCharacterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats / Y. WU in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
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