Výsledky vyhledávání - "Rett Disorder"

The British Isles Survey for Rett has registered 1,159 cases over up to 20 years. Indicators of health and severity, recorded at intervals throughout life, are drawn from clinical examinations, reports and postal questionnaires. This study aimed to e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f934e55bd2a29bffcb84a19df3566b5
https://doi.org/10.1016/j.braindev.2004.10.007

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Electroencephalogram and clinical manifestations of Rett syndrome in children

Autor: Hardiono D. Pusponegoro, Sunartini Sunartini, Purboyo S, Irawan Mangunatmadja, Elisabeth Siti Herini

Publikováno v: Paediatrica Indonesiana, Vol 43, Iss 4, Pp 121-5 (2016)

Background Rett Syndrome (RS) is a severe neurodevelopmental disorder. Epileptic seizures occur in 80-90%; grandmal, psychomo- tor (complex partial), and focal motor seizures have been reported. The electroencephalogram(EEG) is almost always abnormal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9badb2ee845e0c637765a8af545ada5
https://doi.org/10.14238/pi43.4.2003.121-5

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Early Clinical Signs in the Rett Disorder

Autor: A.M. Kerr

Publikováno v: Neuropediatrics. 26:67-71

This review of the period from birth until the end of regression in classic Rett syndrome (RS) is based on personal experience of more than 600 cases over 12 years including video material on 42 cases showing behaviour before regression. A period of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c808b415aac7c2ba60c5985997ddc12b
https://doi.org/10.1055/s-2007-979725

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Early Detection of Autism Spectrum Disorders

Autor: Jariya Chuthapisith, Nichara Ruangdaraganon

Publikováno v: Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment

Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by distinctive language impairments, social and communicative deficits, and patterns of restricted and stereotyped behavior. In the Diagnostic and Statistical Manual of M

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f900b513550835684cdb4bf3201b5005
http://www.intechopen.com/articles/show/title/early-detection-of-autism-spectrum-disorders

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Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation

Autor: Maria Cristina Scaduto, Simonetta Sangiorgi, Annalisa Arbizzani, Maria Rita Tedde, Annio Posar, Margherita Santucci, Antonia Parmeggiani

Publikováno v: Journal of child neurology. 24(6)

Methyl-CpG-binding protein 2 (MECP2) gene mutations have been identified in girls with Rett syndrome and in boys with heterogeneous neuropsychiatric disorders. Because of the limited or inconsistent data reported in literature, the role of methyl-CpG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e431474b7f5cdef4a3beb1481502119
https://pubmed.ncbi.nlm.nih.gov/19189931

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A possible association between genotypes and early signs of Rett disorder

Autor: A. Oberle, A. M. Kerr, H. F. R. Prechtl, Peter B. Marschik, Christa Einspieler

Publikováno v: Neuropediatrics. 39

Introduction: An apparently normal early development was one of the initial criteria for classic Rett syndrome. However, several investigators considered Rett syndrome to be a developmental disorder manifesting very soon after birth. Different types

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e07d857fc87776b5f86687d976da92f
https://doi.org/10.1055/s-0029-1215767

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