Health inequalities by gradients of access to water and sanitation between countries in the Americas, 1990 and 2010 / Gradientes de acceso a agua y saneamiento y desigualdades en salud entre los países de la Región de las Américas, 1990 y 2010

OBJECTIVE: To explore distributional inequality of key health outcomes as determined by access coverage to water and sanitation (WS) between countries in the Region of the Americas. METHODS: An ecological study was designed to explore the magnitude and change-over-time of standard gap and gradient metrics of environmental inequalities in health at the country level in 1990 and 2010 among the 35 countries of the Americas. Access to drinking water and access to improved sanitation facilities were selected as equity stratifiers. Five dependent variables were: total and healthy life expectancies at birth, and infant, under-5, and maternal mortality. RESULTS: Access to WS correlated with survival and mortality, and strong gradients were seen in both 1990 and 2010. Higher WS access corresponded to higher life expectancy and healthy life expectancy and lower infant, under-5, and maternal mortality risks. Burden of life lost was unequally distributed, steadily concentrated among the most environmentally disadvantaged, who carried up to twice the burden than they would if WS were fairly distributed. Population averages in life expectancy and specific mortality improved, but whereas absolute inequalities decreased, relative inequalities remained mostly invariant. CONCLUSIONS: Even with the Region on track to meet MDG 7 on water and sanitation, large environmental gradients and health inequities among countries remain hidden by Regional averages. As the post-2015 development agenda unfolds, policies and actions focused on health equity-mainly on the most socially and environmentally deprived-will be needed in order to secure the right for universal access to water and sanitation.

OBJETIVO:Explorar la desigualdad distributiva de resultados clave en salud determinada por la cobertura de acceso a agua y saneamiento (AS) entre países en la Región de las Américas. MÉTODOS: Se diseñó un estudio ecológico para explorar la magnitud y el cambio en el tiempo de métricas estándar de brecha y gradiente de desigualdades ambientales en salud a nivel país en 1990 y 2010 entre los 35 países de las Américas. El acceso a agua potable y el acceso a instalaciones sanitarias mejoradas fueron seleccionados como estratificadores de equidad. Las cinco variables dependientes fueron: expectativa de vida al nacer total y saludable, mortalidad infantil, en menores de cinco años y materna. RESULTADOS: El acceso a AS se correlacionó con la supervivencia y mortalidad y se observaron intensos gradientes tanto en 1990 como en 2010. Un acceso a AS más alto se correspondió con más alta expectativa de vida al nacer total y saludable y con más bajos riesgos de muerte infantil, en menores de 5 años y materna. La carga de vida perdida se distribuyó inequitativamente, concentrándose de manera sostenida entre los más desaventajados ambientalmente, quienes acarrearon hasta dos veces la carga que hubieran acarreado si el acceso a AS hubiese estado equitativamente distribuido. Los promedios poblacionales en la expectativa de vida y la mortalidad específica mejoraron pero, mientras que las desigualdades absolutas se redujeron, las desigualdades relativas se mantuvieron esencialmente invariantes. CONCLUSIONES: Aún cuando la Región está en curso para alcanzar el ODM 7 sobre agua y saneamiento, los promedios regionales siguen ocultando grandes gradientes ambientales y desigualdades en salud entre países. A medida que se despliega la agenda de desarrollo post-2015, serán necesarias políticas y acciones orientadas a la equidad en salud -principalmente hacia aquellos con mayor privación social y ambiental- a fin de asegurar el derecho por el acceso universal al agua y saneamiento.

Autismo y epigenética. Un modelo de explicación para la comprensión de la génesis en los trastornos del espectro autista / [Autism and epigenetics. A model of explanation for the understanding of the genesis in autism spectrum disorders].

Autism spectrum disorders are characterized by impairment of social integration and language development and restricted interests. Autism spectrum disorders manifest during childhood and may have a varying clinical expression over the years related to different therapeutic approaches, behavior-modifying drugs, and environmental factors, among others. So far, the genetic alterations identified are not sufficient to explain the genesis of all these processes, as many of the mutations found are also present in unaffected individuals. Findings on the underlying biological and pathophysiological mechanisms of entities strongly associated with autism spectrum disorders, such as Rett, fragile X, Angelman, and fetal alcohol syndromes, point to the role of epigenetic changes in disorders of neurodevelopment. Epigenetic phenomena are normal biological processes necessary for cell and thus human life, especially related to embryonic development. Different phenomena that affect epigenetic processes (changes that change operation or expression of a gene, without modifying the DNA structure) have also been shown to be important in the genesis of neurodevelopmental disorders. Alterations in the epigenetic mechanism may be reversible, which may explain the variation in the autism phenotype over time. Here we analyze the normal epigenetic mechanisms, autism spectrum disorders, their association with specific entities associated with altered epigenetic mechanisms, and possible therapeutic approaches targeting these alterations.

Depressed nNOS expression during spine transition in the developing hippocampus of FMR1 KO mice

Nitric oxide (NO), synthesized as needed by NO synthase (NOS), is involved in spinogenesis and synaptogenesis. Immature spine morphology is characteristic of fragile X syndrome (FXS). The objective of this research was to investigate and compare changes of postnatal neuronal NOS (nNOS) expression in the hippocampus of male fragile X mental retardation 1 gene knockout mice (FMR1 KO mice, the animal model of FXS) and male wild-type mice (WT) at postnatal day 7 (P7), P14, P21, and P28. nNOS mRNA levels were analyzed by real-time quantitative PCR (N = 4-7) and nNOS protein was estimated by Western blot (N = 3) and immunohistochemistry (N = 1). In the PCR assessment, primers 5’-GTGGCCATCGTGTCCTACCATAC-3’ and 5’-GTTTCGAGGCAGGTGGAAGCTA-3’ were used for the detection of nNOS and primers 5’-CCGTTTCTCCTGGCTCAGTTTA-3’ and 5’-CCCCAATACCACATCATCCAT-3’ were used for the detection of β-actin. Compared to the WT group, nNOS mRNA expression was significantly decreased in FMR1 KO mice at P21 (KO: 0.2857 ± 0.0150, WT: 0.5646 ± 0.0657; P < 0.05). Consistently, nNOS immunoreactivity also revealed reduced staining intensity at P21 in the FMR1 KO group. Western blot analysis validated the immunostaining results by demonstrating a significant reduction in nNOS protein levels in the FMR1 KO group compared to the WT group at P21 (KO: 0.3015 ± 0.0897, WT: 1.7542 ± 0.5455; P < 0.05). These results suggest that nNOS was involved in the postnatal development of the hippocampus in FXS and impaired NO production may retard spine maturation in FXS.

Síndrome do X Frágil com variante de Dandy-Walker: estudo clínico das manifestações comunicativas orais e escritas / Fragile X syndrome with Dandy-Walker variant: a clinical study of oral and written communicative manifestations

A síndrome do X Frágil é a causa mais frequente de deficiência intelectual hereditária. A variante de Dandy-Walker trata-se de uma constelação específica de achados neurorradiológicos. Este estudo relata achados da comunicação oral e escrita de um menino de 15 anos com diagnóstico clínico e molecular da síndrome do X-Frágil e achados de neuroimagem do encéfalo compatíveis com variante de Dandy-Walker. A avaliação fonoaudiológica foi realizada por meio da Observação do Comportamento Comunicativo, aplicação do ABFW - Teste de Linguagem Infantil - Fonologia, Perfil de Habilidades Fonológicas, Teste de Desempenho Escolar, Teste Illinois de Habilidades Psicolinguísticas, avaliação do sistema estomatognático e avaliação audiológica. Observou-se: alteração de linguagem oral quanto às habilidades fonológicas, semânticas, pragmáticas e morfossintáticas; déficits nas habilidades psicolinguísticas (recepção auditiva, expressão verbal, combinação de sons, memória sequencial auditiva e visual, closura auditiva, associação auditiva e visual); e alterações morfológicas e funcionais do sistema estomatognático. Na leitura verificou-se dificuldades na decodificação dos símbolos gráficos e na escrita havia omissões, aglutinações e representações múltiplas com o uso predominante de vogais e dificuldades na organização viso-espacial. Em matemática, apesar do reconhecimento numérico, não realizou operações aritméticas. Não foram observadas alterações na avaliação audiológica periférica. A constelação de sintomas comportamentais, cognitivos, linguísticos e perceptivos, previstos na síndrome do X-Frágil, somada às alterações estruturais do sistema nervoso central, pertencentes à variante de Dandy-Walker, trouxeram interferências marcantes no desenvolvimento das habilidades comunicativas, no aprendizado da leitura e escrita e na integração social do indivíduo.

The Fragile X syndrome is the most frequent cause of inherited intellectual disability. The Dandy-Walker variant is a specific constellation of neuroradiological findings. The present study reports oral and written communication findings in a 15-year-old boy with clinical and molecular diagnosis of Fragile X syndrome and neuroimaging findings consistent with Dandy-Walker variant. The speech-language pathology and audiology evaluation was carried out using the Communicative Behavior Observation, the Phonology assessment of the ABFW - Child Language Test, the Phonological Abilities Profile, the Test of School Performance, and the Illinois Test of Psycholinguistic Abilities. Stomatognathic system and hearing assessments were also performed. It was observed: phonological, semantic, pragmatic and morphosyntactic deficits in oral language; deficits in psycholinguistic abilities (auditory reception, verbal expression, combination of sounds, auditory and visual sequential memory, auditory closure, auditory and visual association); and morphological and functional alterations in the stomatognathic system. Difficulties in decoding the graphical symbols were observed in reading. In writing, the subject presented omissions, agglutinations and multiple representations with the predominant use of vowels, besides difficulties in visuo-spatial organization. In mathematics, in spite of the numeric recognition, the participant didn't accomplish arithmetic operations. No alterations were observed in the peripheral hearing evaluation. The constellation of behavioral, cognitive, linguistic and perceptual symptoms described for Fragile X syndrome, in addition to the structural central nervous alterations observed in the Dandy-Walker variant, caused outstanding interferences in the development of communicative abilities, in reading and writing learning, and in the individual's social integration.

Síndrome X frágil: desarrollo e intervención del lenguaje escrito: [revisión] / Fragile X syndrome: development and intervention of written language: [review]

Introducción: El objetivo del artículo es realizar una revisión actualizada de las dificultades escolares de los niños y adolescentes con trastornos de X frágil. El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria, así como una causa común de trastornos de aprendizaje y problemas conductuales. Se caracteriza por un fenotipo físico y un fenotipo conductual muy específicos. El SXF está causado por una mutación del gen FMRl (Fragüe X Mental Retardation), situado en la porción final del cromosoma X, locus Xq27.3. La mutación del gen produce un número anómalo de repeticiones de la tripleta CGG (Citosina-Guanina- Guanina). La mutación completa lleva consigo un estado de hipermetilación que inhibe la expresión del gen. El análisis del síndrome X frágil representa un buen modelo para determinar las relaciones entre genes y conducta. Desarrollo: El área de la lectura y la escritura en la población X frágil muestras demasiadas zonas oscuras. El número de trabajos de investigación básica y aplicada es escaso y mayoritariamente asume los patrones de comportamiento derivados de poblaciones próximas, como el síndrome Down, Autismo y síndrome Williams. Conclusión: Los principales problemas de los SXF con la lectura y la escritura tienen su origen en alteraciones de lenguaje y motoras y dificultades de integración sensorial. Nuestro trabajo pretende ampliar y sistematizar de manera orgánica algunos de los aspectos que consideramos fundamentales para mejorar la práctica educativa y la restauración de las deficiencias lectoras. En esta línea de actuación destacamos algunas estrategias metodológicas y propuestas programáticas que conviene explorar para conocer su valor pedagógico y su eficacia práctica.

Introduction: The article aims to provide an up-to-date review of the difficulties children and adolescents with fragile X disorders have in school. Fragile X syndrome (FXS) is the most frequent cause of hereditary intellectual disability, as well as being a common cause of learning disorders and behavioural problems. It is characterised by very specific physical and behavioural phenotypes. FXS is caused by a mutation in the FMR1 gene (Fragile X Mental Retardation) located at the bottom end of the X chromosome atXq27.3. This gene mutation produces an expansion in the number of CGG (Cytosine, Guanine, Guanine) triplet repetitions. The full mutation causes a state ofhypermethylation that inhibits gene expression. Analysis of fragile X syndrome represents a good model for determining the relationship between genes and behaviour. Development: There are many grey areas in the area of reading and writing in the fragile X population. Very few basic and applied research studies are available and they mostly assume behavioural patterns derived from comparable populations such as Down syndrome, Autism, and Williams syndrome. Conclusion: The main problems FXS children have with reading and writing stem from language and motor disorders and difficulties with sensorial integration. Our work aims to broaden and to systemize some of the aspects which we consider key to improving educational practice and to overcome reading deficiencies. In this direction, we highlight some programmatic proposals and methodological strategies which should be explored for their educational value and practical effectiveness.

Caracterizaço da linguagem na síndrome do X-frágil: estudo bibliográfico / Language characterization in the X-fragile syndrome: a review study

BACKGROUND: X-Fragile Syndrome. AIM: To compile information about the language, cognitive and behavior alterations in the X-Fragile Syndrome, using the results of previously published studies and to present the standardized instruments used as testing materials. CONCLUSION: studies used formal and informal testing to assess language. The results present variability regarding the linguistic deficits, which are influenced by the level of the cognitive deficit and behavior alterations. Alterations of the oral praxes and of speech articulation are also expected.

Tema: síndrome do X-Frágil. Objetivo: compilar informações sobre as alterações de linguagem, cognição e comportamento na Síndrome do X-Frágil por meio do resultado de estudobibliográfico e apresentar os instrumentos padronizados usados nas avaliações. Conclusão: os estudos utilizaram procedimentos formais e informais para a avaliação da linguagem. Os resultados apresentaram variabilidade quanto às alterações lingüísticas, sofrendo influênciaquanto ao grau de retardo mental, e distúrbios comportamentais. Alterações práxicas orais e fonoarticulatórias também são previstas.

Características da comunicação em indivíduos com a síndrome do X frágil / Characteristics of the communication in individuals with fragile X syndrome

O objetivo deste estudo foi, a partir da avaliação de linguagem de um grupo de 10 meninos com idades variando entre 6 e 13 anos e com a síndrome do cromossomo X frágil (SXF), caracterizar o nível de comunicação desses indivíduos a partir de escalas de desenvolvimento normal. Constatou-se que dentro desta amostra, os indivíduos apresentaram predominantemente forma de comunicação linguística (80%), atingindo o nível máximo de até 3 anos de idade. Concluiu-se que os dados obtidos confirmam o significativo atraso na aquisição e desenvolvimento da comunicação, necessitando, portanto, de intervenção precoce e especializada

Síndrome do X frágil / X-fragile syndrome

O retardo mental representa substancial problema de saúde pública com repercussões deletérias ao conjunto da sociedade. Estima-se que até 3 por cento da população apresente retardo mental, sendo que até 25 por cento desse total associa-se a alterações do cormossomo x, considerando-se que a síndrome do x frágil representa cerca de 40 por cento de todos os casos ligados ao cromossomo sexual X. Os autores relatam caso clínico, comprovado por estudo genético, revisam literatura especializada e salientam a importância da investigação genética em todos os casos de retardo mental de causa desconhecida, acompanhado ou não de características faciais dismórficas, alterações neurológicas ou comportamentais

Síndrome do X frágil: revisão / The fragile X syndrome: review

A síndrome do X frágil é caracterizada por retardo mental, alterações do comportamento, orelhas grandes, face alongada, macroorquidismo, displasia leve do tecido conjuntivo e detecção do sítio frágil Xq27.3 em meio deficiente em folato. Esta síndrome é causada po uma repetição da expansão do trinucleotídeo CGG no gen FMR1...