Adolescente con síndrome de down y psoriasis severa. veintidos meses de tratamiento con etanercept / Severe psoriasis in a down's syndrome adolescent patient. twenty two months of treatment with etanercept

RESUMEN Reportamos el caso de un paciente de 15 años de edad, con síndrome de Down y psoriasis desde los 2 años. La prevalencia de esta enfermedad en los pacientes con síndrome de Down, varía de 2 al 8% según la literatura consultada. Su cuadro comenzó a muy temprana edad, padeciendo cinco severos cuadros de eritrodermia, que requirieron internación. Durante los últimos 22 meses ha sido tratado con etanercept, reduciendo su PASI de 27 a 2,8 con significativa mejora en su calidad de vida.

SUMMARY We present a 15 years old patient with Down´s syndrome and psoriasis since age 2. Prevalence of psoriasis in patients with Down´s syndrome varies between 2 and 8%. In the case that concerns us, psoriasis started at an early age and suffered five severe erythrodermal events, which required impatient treatment. During the past 22 months the patient has been treated with etanercept, reducing his PASI from 27 to 2.8, hence improving his life quality.

Tratamiento de ortopedia en niños especiales / Orthopedic treatment in special children

Secuencia de tratamiento con ortopedia maxilar en una niña con síndrome de Down que presenta una mesiorrelación, debido a un maxilar superior chico y retruído y el maxilar inferior grande, con mordida invertida anterior y bilateral, alteraciones funcionales y tipo de crecimiento rotacional anterior, microdoncia y agenesias múltiples (AU)

Treatment with maxillary orthopedics in a girl with Down´s syndrome who presents a mesial relation due to a small and retruded superior maxillary and a big inferior maxillary, with inverted palatal and bilateral bite, functional alterations and palatal rotational growth, microdontia and multiple agenesis (AU)

Clinical value of false positive of Down’ s syndrome screening for premature rupture of membranes / 局解手术学杂志

Objective To explore the clinical value of false positive of Down’ s Syndrome Screening for premature rupture of membranes in the second trimester of pregnancy. Methods From Jan. 2009 to Jul. 2013, there were 321 cases who were in the second trimester of high risk pregnancy recieved Down’ s Syndrome Screening. Their fetals have been excluded chromosome or organ abnormality, and there was no fetal organ structure abnormal through sequence prenatal ultrasound examinations. Results of their pregnancy have been followed-up, and pregnancy outcomes of 346 cases who were of low risk were followed-up at the same time. Results Among the 321 cases, there were 14 ca-ses of abortion because of PROM ( gestational age less than 28 weeks);17 cases of premature delivery because of PROM, including 9 cases whose gestational age were from 28 to 34 weeks and 8 cases whose gestational age were from 34 weeks to 37 weeks;and 7 cases of neonatal asphyxia. In the low risk group, abortion because of PROM occured in 6 cases before 28 weeks, 3 cases between 28 to 34 weeks, and 4 ca-ses between 34 to 37 weeks, and neonatal asphyxia occured in 3 cases. Conclusion Comparing with Down’ s screening false positive preg-nant women and the low risk group, the false positive group have a higher occurrence of PROM, Down’ s screening is a potential high risk in-dex as a predictor of PROM.

Idosos com Síndrome de Down: como está sua condição social na sociedade? / Elderly with down’s syndrome: How is your social conditions in society?

Este trabalho pontua o envelhecimento dos indivíduos com Síndrome de Down, discute como estas pessoas se encontram na velhice em relação a direitos como cidadãos, trata sobre o papel da família e da sociedade e, também, aborda sua qualidade de vida na fase senil. Desta forma, este trabalho almeja articular estes conceitos em busca de uma visão mais clara do contexto destas pessoas na comunidade na expectativa de que, a partir daí, a sociedade e governo possam refletir, se posicionar e agir diante desta situação de exclusão social.

This work points out the aging of individuals with Down Syndrome; discusses how these people are in old age in relation to rights as citizens, comes to about the role of family and society and also approaches quality of life in senile stage. Thus, this paper aims to articulate these concepts in search of a clearer picture of the context in their communities in the hope that, thereafter, the society and government can reflect, to position and act on this situation of social.

Evaluación de la salud oral y de las características fenotípicas de individuos con síndrome de Down de diferentes agrupaciones en Monterrey, México / Assessing oral health and phenotypic characteristics of individuals with Down syndrome from a range of associations, in Monterrey, Mexico

Objetivo: El propósito de esta investigación fue identificar las condiciones de la salud oral de los integrantes con síndrome de Down de diferentes agrupaciones en Monterrey, México. Material y métodos: El tamaño de la muestra fue de 97 personas de ambos sexos, con edades entre los 3 y48 años (Me = 9.5). Las condiciones de la salud oral y manifestaciones clínicas propias se evaluaron de acuerdo con los criterios de la Organización Mundial de la Salud, adicionalmente se determinaron los índices de placa dental y gingival de Lõe y Silness. Resultados: El 53.75 por ciento presentó caries, 33.75 por ciento cálculos, se encontró apiñamiento en el 45.75 por ciento, mientras que el 85 por ciento reveló un tipo de alteración en el sector posterior, y se realizó un análisis de las manifestaciones clínicas propias del padecimiento. El índice de placa dental fue de 1.96 y el gingival de 1.91. Conclusiones: Existen condiciones de salud oral defi cientes de los participantes de este estudio, reafi rmándose la urgencia de diseñar y ejecutar programas de atención odontológica integral para pacientes con discapacidad

Objective:The aim of this study was to identify the oral health statusof people with Down syndrome belonging to various associations in Monterrey, Mexico. Material and methods: A sample of 97 individu-als aged from 3 to 48 (MA = 9.5) and of both sexes was selected. The subjects’ oral health status and clinical manifestations were assessed based on World Heart Organization criteria and we also calculated the Lõe-Silness dental plaque and gingival indexes. Results: A total of 53 .75% of the subjects had caries; 33.75% calculus; 45.75% crowding, and 85% presented some form of alteration in the poste-rior sector. The clinical manifestations of the disease in each patient were analyzed. The dental plaque index was 1.96 and the gingival index 1.91. Conclusions: The individuals in the study were found to have poor dental health, which is further evidence of the urgent need to design and implement comprehensive dental care programs for patients with disabilities.

Estrategia educativa dirigida a la familia para la promoción de salud en niños con Síndrome Down / Family-oriented educational strategy for the health promotion in Down´ syndrome children

Introducción: los niños con Síndrome Down presentan una incidencia alta de enfermedades asociadas, necesitando una atención integral y continua desde el nacimiento con el apoyo de la familia. Es necesario aumentar el conocimiento de las familias en especial de los padres, para que puedan convertirse en guardianes eficaces de la salud de sus hijos. Objetivo: profundizar el conocimiento en los padres y/o madres sobre las enfermedades asociadas más comunes que afectan a los niños con Síndrome Down a través de una estrategia educativa. Métodos: se diseñó y aplicó una estrategia educativa con diseño ambispectivo Pre-test y Post-test, sobre el conocimiento y el manejo de algunos aspectos relacionados con la salud de los niños con Síndrome Down, que asisten a un circulo infantil especial. El estudio se dividió en tres fases: en la fase inicial se aplicó una encuesta, evaluada y avalada por expertos, sobre diferentes aspectos de la salud de los niños; en la segunda fase se aplicaron los talleres a todos los padres y/o madres; y la tercera fase consistió en la aplicación de la encuesta inicial. Resultados: a todos los talleres asistieron 22 padres 78,6 por ciento, el nivel educacional de los padres es alto 82,1 por ciento. Las enfermedades más frecuentes presentes en los niños con Síndrome Down fueron las infecciones respiratorias 100 por ciento, las alergias 78,6 por ciento, inmunodeficiencias 53,6 por ciento y las cardiopatías congénitas 46,4 por ciento. Después de realizar los talleres aumentó significativamente el conocimiento de los padres 92,9 por ciento; y las perspectivas futuras sobre el estado de salud mejoraron pues estuvieron presentes en 21 75,0 por ciento progenitores. Conclusiones: aumentó el conocimiento de los padres y/o madres sobre las enfermedades asociadas al Síndrome Down, a partir de la estrategia educativa aplicada a los mismos...

Introduction: Down´ syndrome children show high incidence of associated diseases, so they need integrated care from their birth and their family support. It is then necessary to raise the knowledge among the families of these children, particularly the parents, so that they can effectively protect their children´s health.Objective: to delve into the knowledge of fathers and/or mothers on the most common associated diseases affecting Down´s syndrome children through an educational strategy. Methods: an educational strategy was designed and applied with the ambispective design pre-test and post-test about the knowledge and the management of some aspects related to Down´s syndrome children health who attended the special daycare center. The study was divided into three phases: the first included a survey evaluated and endorsed by experts about the different life aspects of the children; the second one comprised workshops given to all fathers and /or mothers and the third one consisted of the administration of the initial survey. Results: twenty two parents participated in the workshops 78.6 percent, the educational level of parents was high 82.1 percent. The most frequent illnesses were respiratory infections 100 percent, allergies 78.6 percent, immunodeficiency 53.6 percent and congenital cardiopathies 46.4 percent. After the workshops, the knowledge of parents rose significantly 92.9 percent and the prospects of the health status improved since they were found in 21 75 percent progenitors. Conclusions: knowledge of fathers and/or mothers on the diseases associated to Down´s syndrome increased after the implementation of the educational strategy...

Avaliação de funcionalidade em atividades e participação de alunos com deficiência intelectual: estudo-piloto para elaboração de protocolo escolar / Functionality assessment in activities and participation of students with intellectual deficits: a pilot study for a school protocol elaboration

Esta pesquisa visou à elaboração inicial de um protocolo, baseado na Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF), para a avaliação de escolares com deficiência intelectual e verificar a sua aplicabilidade. O estudo passou por etapas distintas, a saber: desenvolvimento de um protocolo inicial, adequações sugeridas em exame de qualificação do estudo, análise por pesquisadores juízes e revisão pela pesquisadora. Ao final desse processo, convergiu-se apenas para o componente “Atividades e Participação” da CIF para a seleção dos itens componentes no protocolo proposto. A aplicabilidade dessa última versão do protocolo foi verificada em estudo-piloto junto a professores do Ensino Fundamental I que ministram aulas para alunos com síndrome de Down em salas regulares da rede municipal de ensino de Barueri, SP. O estudo-piloto com grupo-controle (crianças com desenvolvimento típico) e crianças com síndrome de Down mostrou que o protocolo pode servir para avaliação adequada de diferentes itens de funcionalidade em Atividades e Participação, e sua aplicação em ambiente escolar foi bem aceita pelos professores.

A protocol based on the International Classification of Functioning, Disability and Health (ICF) was developed for the assessment of students with intellectual disability, and its applicability was verified. The elaboration of such protocol involved different steps: an initial version of the protocol, a reviewed version attending the recommendations of the members of the Research Examination Committee, and the submission of this reviewed version to the judgment of three expert researchers. At the end of the process, only the component “Activities and Participation” of the ICF was elected to take part of the protocol here proposed. The applicability of this final version was verified in a restrictive pilot-study including teachers of the first cycle of Basic Education who had students with Down´s syndrome in their regular classrooms of the public education system of Barueri, SP, Brazil. The pilot study with a control group (typically developing children) and children with Down syndrome showed that the protocol is able to properly evaluate some itens of functionality in Participation and Activities. A questionnaire applied to teachers evidenced good receptiveness to the use of the protocol in the school environment.

O valor da fisioterapia: intervindo na respiração bucal de pessoas com Síndrome de Down / The physiotherapy value: interferring in the Down?s Syndrome bearers? mouth breathing

A Síndrome de Down (SD) provoca um desequilíbrio nas funções das células do corpo humano, comprometendo os sistemas orgânicos. Um exemplo é a hipotonia muscular, que está presente desde o nascimento, e que traz dificuldades na coordenação motora em geral. Na cavidade oral, a musculatura hipotônica afeta o posicionamento da língua, a abertura e o fechamento da boca, dificultando a respiração nasal e induzindo à respiração bucal. Tal fato gera maior suscetibilidade a infecções respiratórias recorrentes. Diante disto, neste artigo se teve como objetivo desenvolver uma reflexão acerca de alguns aspectos representativos do contexto que pode levar crianças com SD a apresentarem estes problemas. Concluiu-se que é importante que profissionais de diferentes áreas de atuação contribuam, no sentido de solucionar, mesmo que em parte, o referido problema, evidenciando-se a fisioterapia como um excelente meio para tal, que se tornará uma conduta com valor para pessoas com Síndrome de Down que apresentem respiração bucal, ao preencher positivamente carências específicas ditadas pela individualidade biológica e ainda outras, de natureza biopsicossocial, que se inter-relacionam com tal problema.

The Down?s Syndrome (DS) brings about an unbalance to the cell functions of the human body, making its bearers present problems in their organic systems. One of these problems is related with muscular hypotonia which, since birth, brings difficulties in motor coordination in general to the ones who present this Syndrome. In the oral cavity, the hypotonic muscle affects the tongue position, the mouth opening and closing. This makes it difficult to breath through the nose, consequently leading to a mouth breathing. This fact brings bigger chances to breathing infections. Because of these problems, in this article the objective was to develop a reflection around some aspects of the context that may lead children who bear the DS to present breathing problems. It was concluded that it?s important to have the contribution of other professionals of different areas in the sense to find a solution, at least part of it, to the problem mentioned in this study, focusing that physiotherapy is an excellent way for this and that it will be a valuable procedure for the DS bearers who present mouth breathing to answer positively to specific needs shown by biological individuality and even to other needs of biopsychosocial nature which are co-related to such problem.

Alteraciones visuales y oculares en pacientescon síndrome de Down / Visual and ocular alterations in patients with down syndrome

El síndrome de Down hace referencia al conjunto de manifestaciones clínicas producidas por una alteracióncromosómica numérica denominada trisomía 21, esta es la anomalía genética más frecuente en el mundo (1 por cada 700 a 1.000 nacidos vivos). La mayoríade los casos de trisomía 21 están causados por el fracaso en la separación adecuada de los cromosomasdurante la meiosis. Existe una asociación epidemiológicaentre edad materna avanzada y mayor frecuencia de nacimientos con síndrome de Down. El fenotipo de los pacientes con síndrome de Down es variable, siendo las principales características físicas las siguientes: hipotonía, braquicefalia, pliegue epicántico,fisuras inclinadas hacia arriba, puente nasal plano, hipoplasia medio facial, piel redundante en región cervical posterior, pliegue palmar único transversal,hipoplasia de falange media de quinto dedo de manos con clinodactilia, gap entre primer y segundo dedo del pie. El fenotipo clásico incluye también defectoscardiacos congénitos (50 por ciento), anomalías oculares(60 por ciento), apnea obstructiva del sueño (50 al 75 por ciento), enfermedad tiroidea (20 al 40 por ciento), hipoacusia (75 por ciento), otitis media (50 al 70 por ciento), displasia de cadera (6 por ciento), leucemia (1 por ciento), enfermedad de Hirshsprung (1 por ciento), entre otros. El grado de retardo mental es variable y las alteraciones visuales y oculares son diversas y de gran importancia en la morbilidad de estos pacientes,siendo el grupo de mayor riesgo la población pediátrica. Diferentes estudios han comprobado que existe una alta prevalencia de defectos refractivos, alteraciones acomodativas, ambliopía, cataratas, estrabismo,nistagmos e infecciones entre otras.

Down’s syndrome refers to the set of clinical manifestationsproduced by a chromosomal numerical alteration named trisomy 21; this one is the most frequentgenetic anomaly in the world (one for every 700 to 1.000 born alive). The majority of the cases of trisomy 21 are caused by the failure in the suitableseparation of the chromosomes during the meiosis.An epidemiological association exists between mother advanced age and major frequency of births with Down’s syndrome. The phenotype of the patientswith Down’s syndrome is variable , being the principal physical characteristics the following: poor muscle tone, flat back of the head, epicanthic fold, upslanting palpebral fissures, nasal flat bridge, facial features, redundant skin in cervical posterior region, single transverse palmar crease, hipoplasia of average phalanx of fifth finger of hands with clinodactilia, a larger than normal space between the big and second toes, the classic phenotype includes also: congenital heart defects (50 percent), ocular anomalies (60 percent), obstructivesleep apnea (50-75 percent), thyroid dysfunction (20 to 40 percent), deafness (75 percent), otitis media (50-70 percent), hip dysplasia (6 percent), leukemia (1 percent), Hirshsprung’s disease(1 percent), among others. The degree of mental delay is variable and the visual and ocular alterations are diverse and of great importance in the morbidity of these patients, being the group of major risk the pediatricpopulation. Different studies have verified a high prevalence of refractive errors, accommodative disorders, amblyopia, cataracts, strabismus, nistagmosand infections among others. These anomalies alter in significative form the quality of life of the patients and their family, in such a way that a betterdiscernment of the visual and ocular alterations associated with Down’s syndrome gives place to the establishment of preventive actions and early treatmentthat could influence positively in their developmentand future life.

Cepas gigantes de candida albicans y su potencial de expresión/ fenotípica en niños portadores del sindrome de down

Los niños con el Sindrome de Down (SD), además de los factores que predisponen a la candidiasis bucal, presentan alteración cromosómica que afecta la estructura anatómica de la boca y compromete el sistema inmunológico. En este estudio se usaron 30 cepas de Candida albicans aisladas de la boca de los niños, siendo 25 (83.3%) portadores del SD y cinco (16.7%) sin este. Este hecho convierte a los niños portadores de este sindrome como grandes “cargadores” de levaduras predisponiéndolos a candidiasis bucal. El estudio topográfico de las colonias gigantes de C. albicans, aisladas de la cavidad bucal de los niños con y sin el SD revelaron los mismos aspectos macroscópicos con predominio de colonias que tienen la periferia con franjas, lo que demuestra que este sindrome probablemente no interfiere con esta característica específica en las colonias de levaduras. Sin embargo, estas mismas peculiaridades condicionan una mayor capacidad de adherencia de estas cepas de Candida con la mucosa afectada y a las secuelas ocasionadas por el SD, favoreciendo por lo tanto a la infección bucal por Candida.

Children with Down’s syndrome, besides the predispose factors to buccal candidiasis, present chromosomal alteration that affects the anatomic structure of the mouth and commits the immune system. In this study 30 strains of C. albicans isolated of the children's mouth were used, being 25 (83.3%) bearers of Down’s syndrome and five (16.7%) without it. This evidence turns the children with Down’s syndrome more carried of yeasts of Candida therefore predisposed the buccal candidiasis. The topographical study of the gigantic colonies of C. albicans, isolated of the children's buccal cavity with and without Down’s syndrome showed the same macroscopic aspects with prevalence of colonies with fringed periphery demonstrating that this syndrome presumably doesn't interfere in this characteristic of the fungal colonies however this outlying colonial aspect propitiates larger capacity of adherence of strains of Candida with the injured mucous membrane and the sequels propitiated by the Down’s syndrome inducing larger favoring the buccal infection to Candida.