Rett syndrome: clinical and epidemiological aspects in a Brazilian institution

Pozzi, C; Rosemberg, Sérgio

doi:10.1590/s0004-282x2003000600004

Cited by 4 publications

(3 citation statements)

References 22 publications

(29 reference statements)

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“…We documented statistically significant correlation between patients' birth year and the age at diagnosis. Classic RTT comprised 86% of the total RTT population in Serbia, which is slightly higher than what was reported in other studies (range of 67-80%) [13,21,22]. We did not observe any significant difference regarding the age at diagnosis between patients with classic and atypical RTT, which is opposed to the findings obtained in the Brazilian study [22].…”

Section: Discussioncontrasting

confidence: 92%

Epidemiology of Rett Syndrome in Serbia: Prevalence, Incidence and Survival

Sarajlija

Kisić-Tepavčević²,

Nikolic³

et al. 2015

Neuroepidemiology

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Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder that represents the second most common cause of mental retardation in females. However, incidence and prevalence of RTT are scarcely reported. Methods: A retrospective study included all patients with RTT diagnosed between 1981 and 2012 in Serbia. Estimation of incidence and prevalence was calculated on the basis of vital statistics reported by Statistical Office of Republic of Serbia. Results: From 1981 to 2012, RTT hasbeen diagnosed in 102 girls in Serbia. Incidence of RTT in Serbia is estimated at 0.586:10,000 female live births. We estimated the prevalence of RTT in population of females younger than 19 years at 1:8,439. Death occurred in 19 patients (18.63%), with pneumonia as the most common cause. The lethal outcome by the age of 12 years could be expected for 11% of patients. The mean age at diagnosis was 3.5 years and we have confirmed a significant trend towards earlier dianosis during studied period. Conclusions: Rett syndrome incidence in Serbia is in accordance with reports from other countries. Serbian RTT patients have increased risk for early death when compared to patients in more developed countries, most commonly due to pneumonia. There was significant trend towards early diagnosis of RTT in Serbia over recent decades.

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Section: Discussioncontrasting

confidence: 92%

Epidemiology of Rett Syndrome in Serbia: Prevalence, Incidence and Survival

Sarajlija

Kisić-Tepavčević²,

Nikolic³

et al. 2015

Neuroepidemiology

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“…Published Brazilian studies grouped few patients [12][13][14] and none performed a molecular caracterization. This is the first study in a large group of Brazilian RS patients with molecular characterization and genotype-phenotype correlation.…”

Section: Patientsmentioning

confidence: 99%

Genotype-phenotype correlation in Brazillian Rett syndrome patients

Lima¹,

Brunoni

Schwartzman³

et al. 2009

Arq. Neuro-Psiquiatr.

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-Background: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. Purpose: To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. Method: Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene was performed on peripheral blood DNA by sequencing the coding region of the gene. Results: Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed. Conclusion: Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/ phenotype correlations, guiding the implementation of mutation searching programs.KEY WORDS: Rett syndrome, genotype-phenotype correlation.correlação genótipo-fenótipo em pacientes brasileiras com síndrome de rett resumo -Introdução: A síndrome de Rett é uma grave doença do neurodesenvolvimento ligada ao X dominante, causada por mutações no gene MECP2. Objetivos: Identificar mutações de ponto no gene MECP2 e estabelecer uma correlação entre as principais mutações encontradas e o fenótipo. Método: Avaliação clínica de 105 pacientes, seguindo um protocolo estabelecido. A identificação de mutações de ponto foi realizada em DNA de sangue periférico por sequenciamento da região codificante do gene amplificada por PCR. Resultados: Em 68% dos pacientes observou-se o quadro clássico da síndrome. Mutações de ponto patogênicas foram encontradas em 64,1% dos pacientes e em 70,42% das pacientes com o quadro clássico. Quatro novas variações de seqüência foram identificadas e sua natureza sugere patogenicidade. Correlações genótipo-fenótipo foram estabelecidas. Conclusão: Descrições clínicas detalhadas desta população brasileira de pacientes acrescenta conhecimento às correlações genótipo-fenótipo nesta grave condição, que podem auxiliar na implantação de programas de triagem de mutações. PALAVRAS-CHAVE: síndrome de Rett, correlações genótipo-fenótipo.

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“…Twenty articles 14,33,34,41,[78][79][80][81][82][83][84][85][86][87][88][89][90][91] . The CAPES database contained 17 thesis and dissertation abstracts in this category, and over 60 PubMed-indexed articles in this category by foreign authors were published during the study period.…”

Section: Communication Patterns and Family Relationsmentioning

confidence: 99%

Literatura científica brasileira sobre transtornos do espectro autista

Teixeira

Mecca

Velloso

et al. 2010

Rev. Assoc. Med. Bras.

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ABSTRACTobjectIve. This systematic review sought to conduct a general analysis of the Brazilian scientific output on autism spectrum disorders (ASD) published between 2002 and 2009. Methods. A literature search was conducted in the scientific databases PubMed, SciELO, and LILACS and in the CAPES portal, using keywords such as "autism" and "pervasive developmental disorders". results. A total of 93 articles were identified, most of which were authored by researchers from Southeast Brazil and affiliated with public universities. Approximately one-third of all articles were published in journals with an impact factor ranging from 0.441 to 3.211; most were based on small sample sizes. Furthermore, 140 theses and dissertations were identified, 82.1% of which were master's theses. Interventions for ASD were the predominant research topic. conclusIon. Brazilian researchers are clearly interested in the topic of ASD; however, a substantial portion of their scientific output is limited to doctoral dissertations or master's theses. A minority of articles was published in journals with a high impact factor. These findings suggest the need for studies with larger sample sizes, which could produce higher-impact findings and thus increase visibility of the Brazilian scientific output in the field of ASD research.

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Rett syndrome: clinical and epidemiological aspects in a Brazilian institution

Cited by 4 publications

References 22 publications

Epidemiology of Rett Syndrome in Serbia: Prevalence, Incidence and Survival

Epidemiology of Rett Syndrome in Serbia: Prevalence, Incidence and Survival

Genotype-phenotype correlation in Brazillian Rett syndrome patients

Literatura científica brasileira sobre transtornos do espectro autista

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