Intervenció del psicòleg d'educació en l'assessorament a una alumna amb Síndrome de Down de 1r de primària en l'àrea de lectoescriptura

Davant la diversitat d'alumnat que es troba a les aules de les escoles ordinàries i, sobretot, per la creixent orientació inclusiva dels alumnes amb necessitats educatives especials en aquestes, a continuació es presenta un cas d'una alumna amb síndrome de Down i dictamen de reconeixement de necessitats educatives especials, que està escolaritzada en un centre d'educació infantil primària de Barcelona ciutat. A l'actualitat, ha iniciat 1r de primària i s'ha vist la necessitat d'elaborar un Pla Individualitzat per adequar els objectius i continguts per el curs escolar 2011-2012. Es mostren una sèrie d'actuacions, enfocades a conèixer quines són les àrees curriculars que cal adaptar, quines habilitats té a nivell de manipulació fina i saber quines són les competències en aquestes per poder elaborar uns objectius reals en el Pla Individualitzat. Els materials utilitzats han estat una sèrie de fitxes de treball, el programari Click facilitat pel Departament d'Ensenyament, el web www.edu365.cat i un test específic de valoració de la motricitat fina. Les activitats realitzades han inclòs el passar aquest test, observacions a l'aula del grup classe en diferents moments, a logopèdia i al pati, i entrevistes amb la tutora, la logopeda, la monitora de reforç, la família de l'alumna, així com una coordinació de tots els professionals que intervenen amb la nena. Els resultats obtinguts han permès facilitar l'elaboració del Pla Individualitzat.

¿Son aplicables los criterios analíticos generales para definir el hipotiroidismo en personas con síndrome de down?

Title: Are suitable general clinic criteria for defining hypothyroidism in people with Down syndrome? Studies on the prevalence of thyroid disorders in people with Down syndrome (DS) show a wide dispersion of results. However, most of these studies agree in indicating a greater frequency than in the general population. The cause of these differences may depend on the method of sample selection. In this work we studied a healthy population of adolescents with DS of the Association of Málaga, selected randomly and regardless of the medical care. Mean TSH distribution, used here as a tool to define the biochemical thyroid function of the studied DS population, was two standard deviation higher than the mean for the general population. These data show that in terms of TSH the DS population is a distinct population with respect to the general population. This clearly indicates that it would be necessary to identify and define new criteria to establish what is normal, subclinical hypothyroidism, borderline or pathological, and to propose new treatment guide.

Haemorrhagic shock and encephalopathy syndrome: report of two cases with special reference to hypoglycaemia.

Haemorrhagic shock and encephalopathy syndrome (HSES) is a devastating disorder affecting infants. So far no cases have been reported in Switzerland. It is characterised by the abrupt onset of hyperpyrexia, shock, encephalopathy, diarrhoea, disseminated intravascular coagulation (DIC) and renal and hepatic failure in previously healthy infants. Severe hypoglycaemia has been repeatedly reported in association with HSES. However, the pathophysiology of the hypoglycaemia is not clear. We report on two infants (2 and 7 months old) with typical HSES, both of whom were presented with nonketotic hypoglycaemia. In the first case, plasma insulin was 23 pmol/l at the time of hypoglycaemia (0.1 mmol/l). In the second case, increased values for interleukin-6 (IL-6) (319 pg/ml) and IL-8 (1382 pg/ml) were found 24 hours after admission, whereas IL-1 and tumour necrosis factor-alpha (TNF-alpha) were not measurable. Alpha-1-antitrypsin was decreased (0.6 g/l). In hyperpyrexic, unconscious and shocked infants, HSES should be considered and hypoglycaemia should be specifically looked for. Hypoglycaemia is not caused by hyperinsulinism but may be secondary to the release of cytokines.

Estudio comparativo entre una escala de desarrollo y una prueba basada en la teoría de Piaget, aplicadas a un grupo de niños con síndrome de Down

Este trabajo pretende analizar la similitud entre algunos de los ítems de dos escalas utilizadas en el psicodiignóstico de la primera infancia y construidas a partir de marcos conceptuales divergentes: Brunet-Uzine de estructura psicométrica clásica y Casati-Uzine, adaptación de las pruebas de Piaget. Asimismo deseamos.verificar si ambas escalas proporcionan dliagnósticos equivalentes al aplicarlas a niños con sindrome de Down. El análisis sistemático del contenido de 10s ítems de las dos escalas evidencia una gran similitud de las pautas de conducta que algunos de los items solicitan al niño. El tratamiento estadístic0 de 10s datos indica que para el tipo de niños estudiado la escala Casati-Lézine tiende a acordar edades de desarrollo más altas que la de Brunet-Lézine. La muestra esta compuesta por 18 niños, entre 6 y 24 meses, con sindrome de Down.

Habilidades de cognición social en niños y niñas con el síndrome de Down: resultados de un estudio preliminar

The understanding of false belief is one of the most important milestones in the development of social cognition in children. Many studies have been conducted on this kind of cognition in children with a typical development. Despite being a key point for improving their welfare and quality of life, there are few studies in children with Down's syndrome. The aim of the present work is to carry out an in-depth study of social cognition in children with Down's syndrome. For this purpose, we used 6 tasks, with 3 levels of difficulty, in a group of 9 children aged between 4 and 14 years. Six of these children had a genetic diagnosis of Down's syndrome. The results of our research corroborate previous studies suggesting difficulties in the development of social cognition in children with Down's syndrome, and more specifically in tasks involving false beliefs

Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

Alteraciones respiratorias durante el sueño en niños con Síndrome Down a la altura de Bogotá

Objetivo: determinar la frecuencia de las diferentes alteraciones respiratorias durante el sueño (ARS) e hipertensión pulmonar (HTP) y establecer la saturación de oxígeno (SpO2) en vigilia, sueño y durante los eventos en niños con Síndrome Down (SD) a la altura de Bogotá (2640m) de acuerdo a grupos de edad e IMC. Métodos: estudio descriptivo de corte transversal, se incluyeron todos los niños con SD con sospecha de ARS remitidos a polisonograma (PSG) de octubre de 2011 a enero de 2013 a la Fundación Neumológica Colombina (FNC). Se dividieron en 3 grupos: apnea obstructiva, apnea obstructiva y central, sin apneas. Resultados: 74 niños, el 36,5% mujeres, edad media 4 años. 47,3% presento apnea obstructiva, más frecuente en >2 años, 35,1% apnea obstructiva y central, más frecuente en < 2 años y 17,6 % sin apnea. SpO2 promedio en apnea obstructiva 84,63%, apnea obstructiva y central: 81,8% y sin apnea: 86,85% (p 0,058). 23% presento obesidad, 16% con apnea obstructiva. 53 pacientes tenían ecocardiograma: 28% HTP, 53,3% tuvo apnea obstructiva y 26,7 apnea obstructiva y central, no diferencias significativas. SpO2 promedio en HTP 88,3% vigilia, 86,2% sueño REM, 85,7 % sueño no REM, no diferencia significativa comparada con pacientes sin HTP. Conclusiones: Las ARS son frecuentes en los niños con SD, La desaturación está presente en los niños con SD independiente del tipo de apnea. A todos los niños SD se les debe practicar un PSG en el primer año de vida.

Caracterización de cardiopatías congénitas en pacientes con Síndrome de Down en una institución especializada de Bogotá

Las cardiopatías son el principal defecto congénito asociado al Síndrome de Down (SD), y su detección e intervención oportuna contribuye a reducir la morbimortalidad. El objetivo del presente estudio fue caracterizar las malformaciones cardiacas congénitas de la población pediátrica con SD que asiste a un centro de atención especializado en la ciudad de Bogotá (Colombia). Materiales y métodos: Se realizó un estudio descriptivo transversal con registros clínicos de pacientes con diagnostico cariotípico de SD, evaluando las cardiopatías congénitas documentadas en las valoraciones pediátricas institucionales; se estudió su posible relación con determinados factores como la edad de los padres y el género del hijo. Resultados: Se revisaron 157 historias clínicas que cumplieron con los criterios de calidad para estudio. El 57,2% eran hombres y el 42,8% mujeres. El cariotipo del 91,7% fue trisomía libre, 3.8% mosaicismos y un caso de translocación. El diagnóstico prenatal se realizó en el 12,1% de los evaluados. Se observó algún defecto cardiaco congénito en el 65,8% de los pacientes (n=103). Se identificaron defectos aislados en 53 pacientes (33,7%), siendo el ductus arterioso persistente el más frecuente con un 26,2%. El defecto múltiple más recurrente fue la comunicación interauricular asociada a comunicación interventricular con un 18,4%. No se identificó relación entre los factores de riesgo estudiados y algún tipo de cardiopatía. Conclusiones: Se identificó una prevalencia de cardiopatías congénitas similar a la reportada por la literatura, sin embargo se documentaron diferencias en cuanto a la frecuencia y tipos de defectos únicos y múltiples descritos en otros estudios. Palabras Clave: Síndrome Down, Cardiopatías congénitas, Colombia.

Correlación genotipo-fenotipo y análisis molecular en pacientes con síndrome Down

El síndrome Down (SD) es la trisomía más común en humanos, presentándose en 1 de cada 745 nacidos vivos y es la causa más frecuente de retardo mental. El origen más observado de la trisomíaes una no disyunción meiótica (95%), la cual generalmente es de origen materno, mientras un 5% se debe a errores post-cigóticos mitóticos. Objetivo: identificar el origen parental delcromosoma 21 extra, el momento del error no disyuncional y establecer una correlación entre estos eventos y las manifestaciones fenotípicas de los pacientes afectados. Materiales y métodos: se estudiaron cincuenta familias con un hijo con SD mediante el uso de cinco short tandem repeats (STR) a lo largo de 21q, se construyeron los haplotipos de cada paciente y sus padres, determinandoel origen parental y el momento en que surgió el error no disyuncional. Resultados:en 80% de las familias el error fue en meiosis I y 20% en la meiosis II; 98% de los cromosomasadicionales fue de origen materno y 2% paterno. Se encontró correlación genotipo-fenotipo en ocho características estudiadas: cuello corto y ancho, tercera fontanela, labio inferior prominente, paladar estrecho y corto, raíz del hélix cruzando la concha, alopecia, pliegue único palmar yotras anomalías como nevus y xeroderma y eventos de recombinación en 24,5% de las familias analizadas. Conclusiones: la edad materna y la variación en el número de recombinaciones está asociada con no disyunciones meióticas I y II; se encontró correlación entre el momento del errorno disyuncional y algunas variables clínicas.

C??mo hacer hablar al ni??o con s??ndrome de Down y mejorar su lenguaje : un programa de intervenci??n psico-ling????stica

En la port. adem??s : European Down Syndrome Association (EDSA)

(Com)passo a (com)passo com o síndrome de Down

RESUMO: O presente projecto surge como trabalho final de Mestrado em “Educação Especial: Domínio Cognitivo e Motor”, relatando a concepção, realização e avaliação de um Projecto de Intervenção/Acção, no qual a Expressão Musical configura a área primordial de intervenção. O trabalho intitula-se “(Com)passo a (com)passo com a Síndrome de Down”. Baseia-se num grupo de treze crianças de educação pré-escolar, no qual está incluída uma criança com Síndrome de Down. Neste contexto reflecte-se sobre essa síndrome, segundo a perspectiva de vários autores. Descrevem-se também as metodologias de investigação utilizadas para a recolha de dados, tendo por base autores de referência. Faz-se ainda a caracterização do contexto escolar onde se desenvolveu o Projecto de Intervenção/Acção e a apresentação do respectivo Plano de Acção. Relata-se a intervenção realizada, acrescida da interpretação e avaliação dos dados obtidos a partir das vinte e três sessões de actividade levadas a cabo. A análise dos resultados permitiu inferir que as sessões de Expressão Musical se revestiram de um carácter bastante positivo, dado que se constataram mudanças consideráveis no comportamento das crianças e do grupo. Tais mudanças tornaram-se mais evidentes na área da socialização, traduzidas num maior envolvimento das crianças dentro do grupo, que provocou um maior entusiasmo e interesse em participar nas actividades propostas. ABSTRACT: The present draft appears as Masters final work in “Special Education: Cognitive and Motor Domains”, reporting the idea, implementation and evaluation of an Intervention / Action Project, in which the Musical Expression configures the primary area of intervention. The work is entitled “(Com)passo a (com)passo com a Síndrome de Down”, based on a group of thirteen children of preschool, in which is included in a child with Down Syndrome. In this context this work reflects upon this syndrome from several authors‟ perspective. It also describes the research methodologies used for data collection having for base reference authors. It‟s done, also, the characterization of the school environment where the Intervention/ Action Project and the presentation of its Action Plan were developed. It is reported the intervention, together with the interpretation and evaluation of data obtained from the twenty-three sessions of activity carried out. The results allowed inferring that Musical Expression sessions assumed a very positive character, given that significant changes were observed in the behavior of the studied children and the rest of the group. These changes became more evident in the socialization area, translated into a greater involvement of children within the group, which led to a greater enthusiasm and interest in participating in the proposed activities.

Do children with Williams syndrome really have good vocabulary knowledge? Methods for comparing cognitive and linguistic abilities in developmental disorders

The comparison of cognitive and linguistic skills in individuals with developmental disorders is fraught with methodological and psychometric difficulties. In this paper, we illustrate some of these issues by comparing the receptive vocabulary knowledge and non-verbal reasoning abilities of 41 children with Williams syndrome, a genetic disorder in which language abilities are often claimed to be relatively strong. Data from this group were compared with data from typically developing children, children with Down syndrome, and children with non-specific learning difficulties using a number of approaches including comparison of age-equivalent scores, matching, analysis of covariance, and regression-based standardization. Across these analyses children with Williams syndrome consistently demonstrated relatively good receptive vocabulary knowledge, although this effect appeared strongest in the oldest children.

O educando com síndrome de down: um estudo sobre a relação entre pais e profissionais na escola regular

This work makes a documental analise about the relationship between families of Down syndrome students and professionals of who teach them, in order to improve the process of developing teaching-learning, in an inclusive perspective. For this, we use a qualitative approach, because we believe that the object of research is not a passive and neutral knowledge, since it has meanings and relationships whose can be better interpreted and understood by the researcher in a real and active situation. For the development of this research, a bibliographical review was made about the subject, and a case studied in two regular education schools, both of them at the city of Natal/RN, one public and another one particular. We work on these educational institutions with professionals and parents of Down syndrome students. As an instrument of building information we used a semi-structured interview and to analise the results a qualitative method. Crossing the stages, we noticed: the pedagogical coordinators who made up both analyzed schools showed interest about doing an effective work with parents, regardless of Educational Policy Project of each school, predict or not the participation on educational undertaken process; On teachers discourses, reporting the relationship with the family, we realize that one of those teachers try to keep a good relationship with parents, permeated by learning exchanges, guidance and knowledge, in relation to another one, even existing an apparent openness to dialogue, when parents have any suggestions or criticism, that attitude is not always well coming. From the parents interviews, we can emphasize, first of all, that both of them recognize the benefits of inclusion, with regard to socialization - in general from the coexistence with pairs and the process of teaching and learning, as shown in a consistent way. Regarding school meetings with teachers, the studied parents agree about importance of such appointments and try to attend them, besides the other events organized by the school, beyond keeping individual touch with the teacher, when necessary. They are always present, looking for get envolved in everything that happens at school, in order to know better what is being done, listening and may suggest alternatives to improving the educational process. We perceive, from the study undertaken, that although the school inclusion is not an easy process to be built, is something that could be achieved. For this, is necessary that professionals of education and families recognize their functions in the educational process and act jointly on this direction

A escrita e a criança com síndrome de Down: uma relação possível na escola regular

The school inclusion is based on respect for diversity and the belief that everyone has the capacity to learn and develop, for this the school needs to prepare itself to meet the differences and provide a meaningful learning for everyone, including those with Down syndrome. It is in the interaction with others that children develop their skills and exchange substantial experiences to learn the school and non school knowledge. Among the knowledge the school must offer students, there is one that is indispensable to the present society; the writing, because writing is a way to Interact, to communicate and to build autonomy to relate in society. Before exposed, the research that started this study aimed to investigate the level of the writing conceptualization of children with Down syndrome during the literacy process in a regular school of the private school network in the city of Natal/RN. For carrying out this study, initially we conducted a qualitative research, using the bibliographical as a methodological recourse, seeking to the deepening of information, based on the literature about the subject, which allowed us to collect data about people with Down syndrome, their education and the process of the writing acquisition. Later, a case study was performed, involving free observation in the room and interviews with teachers and children, trying to verify how this writing acquisition process occurs by children with Down syndrome. The data analyzed and information recorded demonstrated that the school inclusion, when taken seriously, benefits the learning of writing for children who have intellectual deficit, and, mainly, they develop in this environment and are able to learn to write, as long as their own pace are respected