Madrid 1997 World Down Syndrome Conference Various Matter Workshops
GROWTH CHARTING IN A SAMPLE OF PERSONS WITH DOWN SYNDROME IN CATALONIA'S POPULATION
Pastor, X., Corretger, M., Gassió, R., Serés, A.
Fundació Clínic I Fundació Catalana Síndrome de Down. Valencia, 229 pral. 08007 Barcelona (España)
Goals: The health programs in Pediatrics have a special emphasis on assessing the development of growth. Each control visit has to check the weight, length and head circumference desviations from normality and register them on a growth chart in order to detect as early as possible deviations from normality. Patients with Down syndrome have a particular pattern of growth and they cannot be compared with the standard population. The objective of that work is to estimate the normal parameters for the DS population of Catalonia in order to have a good standards.
Methods: The Catalonian Foundation of Down's Syndrome has a health program currently running since 1988. A total of 900 patients have been visited since then at regular intervals. The paramenters measured in each visit included weight, length and head circumference. Two pediatricians have taken all the measurements with the same methodology and devices. The calibration of the devices was assessed on a regular basis. The patients with heart defects have been excluded from the calculations. A total number of 1332 measurements have been taken and all of them have registered the measurement date. Using this date and the birth date also recorded in the clinical record, the age at the time of measurens was computed. Time-frames were categorized for grouping cases. During the first year the time interval was one month. From one to three year-old, was three months. Beyond that age, the grouping period was one year. The statistical analysis was performed with the SPSS package.
Results: 57% of the patients were males and 43% females. The mean values for each age were in many cases statistically different (p value < 0.05). For that reason the patients were split according to sex and different graphs were done. The charts were built using the mean and the percentiles ranks for each age.
Discussion: Several ages have not enough data to establish the value of the percentiles. Using other ages it is possible to interpolate graphically the results. Summary: With this study we have a better approximation to the growth measurements in the Down's population of Catalonia. More cases added to that register would be welcome if accuracy and precision are guaranteed.
METABOLIC STUDIES OF DOWN SYNDROME USING A GENETIC APPROACH
Patterson, D., Brodsky, G., Flintoff, W, Brennan, M.
Eleanor Roosevelt Institute, 1899 Gaylord Street Denver. CO 80206 (USA) Phone: 303.333.4515 Fax: 303.333.8423 E-mail: dpatter2@du.edu
As the genes on chromosome 21 are identified, it has become clear that many metabolic pathways may be affected by the increase in dosage of genes encoding enzymes of the pathways. Three critical biochemical pathways which fall into this category are those of purine synthesis, folate metabolism, and reactive oxygen species (ROS) metabolism. For the purine pathway, a trifunctional protein carrying out the second, third and fifth enzymatic steps of the pathway, called GART, is encoded by a gene on the chromosoma as is a subunit of ATP synthase. A gene encoding the reduced folate carrier, RFC, is also encoded on this chromosome, as is a gene encoded SOD1, a critical step in ROS metabolism. These pathways are all interconnected biochemically. For example, urate, the end product of purine metabolism in man, is a significant antioxidant, and purine metabolism and the generation of ATP can both generate ROS. Activated folate is required for purine synthesis. We have undertaken study of expression of these genes in human and mouse brain and the construction of transgeneic mice to aid in the analysis of the role of dosage of these genes in Down Syndrome.
SOME ASPECTS OF THE OXIDATIVE METABOLISM IN DOWN'S SYNDROME: INSIGHTS IN SUPEROXIDE DISMUTASE
Aguilar, R.H., De Albergaria, C.A., Moraes, G.
Dpto. de Genética e Evoluçao. Univ. Federal de Sao Carlos. Via Washington Luiz km235 CEP 13565-900 Sao Carlos (Brasil) Phone: 55(0)16 2748376 Fax: 55 (0)16 2748306
Down's Syndrome patients have been studied concerning free radical formation. For the purpose of contributing towards clarifying the genic effect we have studied the enzymatic level of SOD1 associated to the clinical variability. We have analyzed 38 subjects where 73.7% came from Down's group and the others were normal (control). Cariotype was done as proposed by SMITHIES (1959) and methemoglobin as NAOUM (1987). Enzyme activity was measured in red blood cells as BEUTLER (1983) By biochemical and cytogenical analyses, the clinical signal was statistically considered and mathematical correlation was done. Our results have shown an increase of 50% of SOD1 activity in Down patients and a significant increase in methemoglobin concentration. We proposed that such increases come from the effect of genic dose for SOD and some adaptive response concerning changes in blood parameters. That result lead us to think that the oxidative metabolism should be adjusted in response to oxidative stress.
INCIDENCE OF HELICOBACTER PYLORI ANTIBODIES IN SUBJECTS WITH DOWN'S SYNDROME
Failla, P., Pettinato, R.*, Barone, C., Romano, C.
Dpto. of Pediatrics, Oasi Institute, Via Conte Ruggero, 73, 94018 Troina (EN) (Italy) Phone: 39-935936111 Fax: 39-935-653327 E-mail: pediat@oasi.en.it
The Helicobacter pilori (HP) is a Gram-negative bacterium which colonizes the antral portion of the stomach. It is the major etiological agent responsible for chronic gastritis, gastric and duodenal ulcer disease. Such bacterium is widespread wide within the adult population (36.9 to 53%), and the percentage of infection is positively correlated to the age of the sample (6 to 20% in pediatric populations of the Western Europe). Moreover, the higher frequency among subjects with immunodeficiency and poor hygienic conditions has been pointed out. People with Down's syndrome (DS) show higher susceptibility to the infections. The present study deals with the serological assay of IgG antibodies versus HP within subjects with DS, whose results have not so far been reported in literature. We evaluated 77 subjects with DS, Sex ratio M/F: 1.3, aged 1 to 40.7 years (Mean age: 13.5 years). All have been submitted to the serum assay of IgG antibodies versus HP through ELISA method. All subjects have been separated in two groups according to the age. The first group was made up of 46 subjects aged up to 14 years, whereas the second group enrolled 31 subjects aged over 14 years. Nine subjects (19.5%) in the first group and 16 subjects (51.6%) in the second group showed an antibody titer compatible with HP infection. The incidence in the whole sample of 77 subjects with DS was the 32.4%. Therefore, people with DS do not seem to show higher susceptibility to the HP infection.
PRELIMINARY REPORT ON THE RELATION BETWEEN THE PSYCHOLOGICAL FUNCTIONING OF CHILDREN WITH DOWN SYNDROME AND ..
Nygaard, E.
Mariesgate 5 A, 0368 Oslo (Norway). Phone: 47-22446999 Fax: 47-22854419 E-mail: egil.nygaard@psykologi.uio.no
Increased levels of serum antibodies to food proteins and hyperpeptiduria have been found in people with Down syndrome (DS). These findings may have relevance for the development of the central nervous system (CNS). 55 children (between 4 and 11 years of age) with DS were involved in a cross-sectional study designed to investigate the relation between psychological functioning of the subjects and their urine peptide levels and levels of serum antibodies to food proteins. The tools used to measure the cognitive/motor functioning of the children were the Stanford-Binet Intelligence Scale: Fourth Edition (SB:FE) and McCarthy Scales of Children's Abilities. In addition Fagan's computer based test of selective attention to novel faces was used. The children with DS in the current study, and their siblings, were found to have significantly higher total urine peptide levels in comparison to earlier studies with normal children. The increased total urine peptide level findings did not correlate significantly with psychological functioning. The data on specific peptide levels, and their relation to psychological functioning, has not been analysed yet. Significantly increased levels of IgG activity to gliadin and gluten, and IgA activity to gliadin, gluten and casein were found. Negative correlations between cognitive functioning, and IgG activity to gliadin and gluten and IgA activity to gluten were found. Significant negative correlations between the Fagan test, and IgG and IgA activity to gliadin and gluten were found.
WHY IT IS NECESSARY TO STUDY THE ROLE OF MITOCHONDRIAL GENOME IN TRISOMY 21 PATHOGENESIS
Arbuzova, S.
Interregional Medico-Genetic Centre, Hospital 1, 57 Arten st. 340000 Donetsk, (Ukraine) Phone: 380622 902442 Fax: 380622 350044 E-mail: oldoctor@pub.dn.ua
The analysis of 190 pedigrees with trisomy 21, including 32 with repeated marriages of mothers and/or grandmothers, indicates that the cytoplasmic inheritance of predisposition to the pathology rises and also the trisomy 21 connection with other aneuploidies, non-chromosomal syndromes, autoimmune, neurodegenerative, and oncological diseases.The biochemical examination of extrachromosome donors shows the increase of free-radical process intensity and the decrease of SOD-1 activity, more obvious in older age. Imbalance in the of oxidant-antioxidant system can be the direct cause of chromosomal nondisjunction.These data as well as the predominant maternal origin of extrachromosome and the age-dependent syndrome frequency were the basis for the mtDNA sequencing in a donor of extrachromosome 21. Three new point non-polymorphic mutations not described before were found in genes ATP-ase G8764A and ND-5 G13243A with the same amino-acid exchanges Ala/Thr, and in ND-1 G3337A-Val/Met.It is necessary to continue mtDNA research. The detected mtDNA mutations in cases of Alzheimer's disease, insulin-independent diabetes, some oncodiseases, in somatically healthy people of about 40 and older can explain the Down syndrome's connection with these diseases and aging. Moreover, mtDNA analysis in patients with trisomy 21 can help to find the reasons for free-radical damage. This phenomenon directly related to the manifestation of the syndrome cannot be explained only by the secondary SOD-1 gene dosage effect.
HOW DOWN'S SYNDROME WAS IDENTIFIED IN 1866
Ward, O.C.
Department of Paediatrics. University College. Dublin Our Lady's Hospital for Sick Children. Dublin, 12 (UK) Phone/Fax: 07-44-181-9770153 Fax: 07-353.1.676.9242
Dr. John Langdon Down was a brilliant medical student in the Royal London Hospital. He was also a supporter of women's rights and an opponent of slavery. Until the age of 18 he worked as a shop assistant in the village of Torpoint, in Cornwall. He trained as a pharmacist before entering medical school. Inmediately after taking his medical degree he was appointed Medical Superintendent of the Royal Earlswood Asylum for Idiots, as it was then called. He reformed the institution and he studied the medical condition of the residents. He measured the proportions of their heads and in 1861 he began to use clinical photograpy. His family preserved over 200 photographs. His first photograph of a patient with Down's syndrome dates from 1861. He attempted to classify the Earlswood residents as Caucasian, Ethiopian, Malaysian, Aztec or Mongolian in their appearance. He reported his findings in 'The Ethnic Classification of Idiots' in 1866 and he expanded on his observations later. He left Earlswood in 1868 and set up Normansfield, his own private institution. His clinical notes have been retained. His son, Reginald, was the first to note the single palmar crease in Down's Syndrome. After his death his first grandson was affected with the condition. An extensive review of his life is in hand. His photographs will be displayed.
NOAH'S ARK-PEOPLE WITH DOWN'S SYNDROME ARE PERFORMING ART
De Bragança, K,, Lutterbeck, G., Kurenbach, P.F.
Karl-Barth-Strasse 97, 53129 Bonn, (Germany) Phone: 49-0-228-549711 Fax: 49-0-228-549716 E-mail: BRAGANCA.KASACK@t-online.de
ABOUT THE NOAH'S ARK PROJECT: The purpose of Noah's Ark has been to engage a group of children, teenagers and adults (both with and without Down's syndrome) in the symbolic act of building a walkable 'ship' of eighteen metres in length, complete with animals and all equipment.The project's vitality and artistic quality result from the extraordinary expressive creativity which we find in those who come to this world with a special secret.
THE VISION OF NOAH'S ARK: Created by a group of humans who experience daily discrimination by the major part of society, the ark stands as an image of survival. We hope that a great number of people with Down's Syndrome, as well as their families and friends from as many parts of the world as possible, will participate in this project. Our plan is that the ark will be travelling from one country to another with material being added at every 'quay' on its way. Our hope is that the work of art will both increase the feeling of solidarity among those concerned and attract the international general public's interest in the issue of Down's syndrome.
THE JOURNEY: Our journey will start in October 1997 in Bonn, 9 months of travelling will follow in Germany. In summer 1998 we will start to arrange our international stops: you are invited to participate in our project, please contact us. We have already established contact with Down's syndrome groups in Germany and abroad and are, for instance, delighted that an Indian group from Madras has contacted us and will participate in our project. A schoolclass from Crete (Greece) has created a mountain goat (length 1.20 m. 7 kilogrammes) for our exhibition and is just organizing the transport to Germany.
THE LONG BOOK: The project started in October 1995. The activities are documented in a detailed 'log book'. Here are some excerpts: 9 Dec. 1995. '... Nico (10 years old, DS) created a 'dangerous vulture with evil eyes' and bird's nests are very important to him...'12 Jan. 1996. '... in another corner Christoph (11 years old, DS) was sitting and was obviously enjoying building towers from all kinds of material. First of all he investigated the differing textures of material by touching them. He then proceeded to make some ''ves-Klein-blue-porridge' in a big pot. Afterwards he wound cable and pearls of clay together and painted all pieces with the blue porridge...'10 July 1997. '... Nicole (31 years old, DS) paints a lion on a piece of rice-paper. It has the power to protect her, she explains. Thereafter she wraps the painting with leather, grass, cloth and string and hides it for a night under her pillow; to catch a beautiful dream. On the next day this wrapped object becomes the heart of a lion made of plaster of Paris, marbles are set in for the eyes. The lion is named Clarence . Lois (a friend, 42 years, DS) explains to us that she has chosen this name because both Nicole and Clarence duplicate the world with their eyes...'
EL GRUPO: UN INSTRUMENTO DE INTERVENCION PARA EL DESARROLLO GLOBAL DE LA PERSONA DOWN EN EL PROCESO DE INCLUSION.
Borbonés, R., Golanó, M.
Fundació Catalana Síndrome de Down. Valencia, 229 pral. 08007 Barcelona (España) Phone: 93-215.74.23 Fax: 93-215.76.99 E-mail: fcsd@nexus.es
Desde su creación en el año 1.984 la Fundació Catalana per a la Síndrome de Down trabaja con el objetivo de conseguir una mayor calidad de vida de las personas Down mediante su inclusión social. Con este objetivo se llevan a cabo diversos proyectos basados en el grupo como instrumento de intervención en el proceso de integración. El grupo proporciona un contexto relacional en el que aparecen las relaciones entre compañeros/as con un mismo estatus sociopersonal. Estas relaciones cumplen una función primordial en el desarrollo sociocognitivo ya que permiten la construcción de unas competencias relacionales necesarias para la integración social y desarrollo satisfactoria de la persona. Además el grupo posibilita dos elementos imprescindibles para la conquista de la propia identidad: el reconocimiento de la discapacidad y la constatación de las múltiples diferencias en el colectivo de las personas Down. Se presenta una experiencia con grupos de juego simbólico realizada con niños/as de entre 7 y 10 años. En los resultados se muestra una clara evolución en los niveles de juego y estrategias de interacción. Se observa como el sujeto es capaz de organizar progresivamente su propia actividad de forma autónoma, cómo se va interesando por el otro-grupo y las dificultades que surgen en este proceso. El sujeto aparece ante los demás con sus propias singularidades. De su toma de conciencia emergen elementos importantes para el proceso de construcción de la propia identidad personal.
ESTUDIO SOCIOSANITARIO DE LA POBLACION SINDROME DOWN EN EL PRINCIPADO DE ASTURIAS
Martínez, A.
Dirección Provincial del Insalud de Asturias. Pza del Carbayón, 1 y 2 33001 Oviedo (España)
Cuestión-Objetivos: Conocer el grado de integración familiar, escolar y social de las personas Síndrome Down (S.D.) del Principado de Asturias, nivel de información de los padres antes del embarazo y recursos sociales demandados.
Muestra: De un total de 280 personas, tomamos una muestra de 127 (45%), cuya edad más representativa está en 11-14 y 5 años, siendo el 55'9% hombres.Métodos: Estudio descriptivo transversal, estratificado por Areas Sanitarias, mediante cuestionario a padres y tutores. Trasladando los datos obtenidos al Programa estadístico SPSS y realizando un análisis univariante.
Resultados-Conclusiones:
La integración familiar de las personas S.D. es buena y parece más asociado al grado de afectividad de los padres que a su nivel cultural.
A nivel escolar y Social el grado cultural bajo de los padres, reduce el diálogo y la exigencia hacia los tutores que no muestran suficiente conocimiento del nivel de integración escolar y grado de socialización del alumno.
La información de los padres antes del nacimiento del hijo es nula, limitando esto su capacidad decisiva para continuar o no el embarazo. Si bien la aceptación aumenta con el tiempo.
Es llamativo que la mayoría de las personas S.D. dedican su tiempo libre a ver la televisión, hábito de poca socialización y absolutamente sedentario.
Destaca la angustia-preocupación de los padres sobre el posible embarazo en personas S.D. y que en adolescentes sólo el 2'25% haya realizado Planificación Familiar.
En los recursos sociales demandados por los padres, destacan: Escuelas de Padres y Comedores Escolares.
NO AGUARDEMOS LA PROXIMA NOTICIA. NOSOTROS SOMOS LA PROXIMA NOTICIA
Werneck, C.
Proyecto muito prazer, EU EXISTO. (Brasil). Phone: 55-21-5331605 Fax: 55-21-2623593 E-mail: wva001@ibm.net
Los medios de comunicación no son malos, son apenas el reflejo de una sociedad presumida e incapaz de percibir la deficiencia como una cuestión humana. Por eso, en Brasil, el tema ni llega a ser una cuestión social. La falta de compromiso no es del periodista, es del hombre y del ciudadano. No será difícil humanizar al periodista. Propongo que los medios de comunicación sean educados por cada uno de nosotros, personas directa o indirectamente relacionadas con la cuestión de la deficiencia.
Temas propuestos a los Mass Media. 1) Información no es entretenimiento. Reportajes sobre Síndrome de Down no pueden provocar apenas sonrisas de compasión. 2) La importancia del periodista especializado actuando como censor y educador, movilizando a la redacción a mantenerse actualizada acerca de asuntos en que la mayoría de los periodistas no tiene interés. 3) Más que pasar información, la prensa tiene que contribuir para que el receptor desarrolle relaciones productivas y saludables con la información recibida. 4) Los medios de comunicación como productores de conocimiento, actuando de común acuerdo con los grupos de ayuda mutua. 5) El periodista es un mediador de distintos saberes y tiene que actuar como puente, llevando información del científico al lego y del lego al científico. 6) Como instrumento de bioética, los medios de comunicación tienen que fomentar debates que envuelvan las relaciones de la ética y de la ley con los avances de la ciencia. 7) El periodista no es un pedagogo pero los medios de comunicación son una especie de escuela paralela. Padres y profesionales ¿hacen estimulación precoz? El periodista-educador tiene que hacer estimulación social. 8) Como no se hace historia sin registro, los medios de comunicación son el 'alimento' del historiador. Tiene que registrar la historia de la lucha para la construcción de la ciudadanía de personas deficientes, en Brasil y en otros países del mundo. Que esta historia deje de ser silenciosa.
ATENCION INTEGRAL DE ADOLESCENTES CON SINDROME DE DOWN EN UN HOSPITAL GENERAL
Goddard, P., Savaglio, Coronel, O., Rodriguez, L.
Programa de Adolescencia Htal. De Clínicas Joseé de San Martín. Univ. De Buenos Aires. Córdoba 2351 (C.P.1120) (Argentina).
INTRODUCCIÓN: La mejoría en la calidad de vida y los niveles crecientes de autonomía en jóvenes con Síndrome de Down exigen una adecuación de la atención profesional a las necesidades diferentes de la adolescencia.
OBJETIVOS:
Realizar una evaluación de la situación a través de una encuesta.
Organización de un equipo interdisciplinario de atención médica.
Investigar y analizar dificultades y situaciones problema.
MATERIAL Y MÉTODOS: En 1992 se distribuyó un cuestionario de selección múltiple para ser contestado por los padres en 3 escuelas especiales y a través de una asociación de padres (ASDRA). Se realizaron reuniones con grupos de jóvenes y de padres en el ámbito de la asociación. Simultáneamente en el hospital se organiza un equipo de trabajo destinado a la atención de los jóvenes y sus familias. En 1996 se realiza un estudio retrospectivo de las consultas efectuadas.
RESULTADOS: La encuesta mostró un subregistro de patologías: alteraciones de la audicción 2%, alteraciones tiroideas 12.7%; IAA 0%; correlacionándose con escasos controles médicos.Se analizaron las historias de 29 pacientes, actualmente 27 se encuentran en seguimiento.Edad promedio (17 a) (R10-24 a) Motivos de consulta fueron: control de salud (31%); asociados a trastornos de conducta (10.3%); orientación en sexualidad (10.3%); causas clínicas (13.7%) y alt. Psicoemocionales (27.5%). En el 62% se detectó patología clínica. La prevalencia fue: cardiaca ((37.9%); psicoafectiva y de conducta (37.9%) visual (37%), tiroidea (20%). El (79.3%) se encuentran escolarizados concurren a taller laboral o han iniciado un trabajo.
CONCLUSIONES:
Falta de controles adecuados
Promoción de salud integral
Concienciación del equipo de salud y sensibilización de la comunidad para permitir el desarrollo de las potenciales individuales.
Establecer redes, familia, escuela, equipo de salud para optimizar recursos.
Jerarquizar esta etapa por su impacto en el desarrollo de la persona.