Madrid 1997 World Down Syndrome Conference Posters
Towards the Identification of the Genes Involved in the Pathogenesis of Down's Syndrome
Sinet, P.M.
URA CNRS 1335, Faculté de Médecine, 156 rue Vaugirard, 75730 Paris (France)
In most cases, Down's Syndrome results from the presence of an extra copy of chromosome 21 in all cells of the afflicted persons. In very rare cases, it results from a partial trisomy 21. The phenotype then depends on the segment of chromosome 21 that is present in triplicate. Clinical, cytogenetic and molecular analysis of persons with partial trisomy 21 identified a region of chromosome 21 on sub-band 21q22.2, the Down's syndrome Chromosome Region-1 (DCR1). The duplication of this region, which represents 5% of the whole chromosome 21, is associated with many features of the syndrome, including morphological features, short stature, hypotonia, joint hyperlaxity and mental retardation. These data strongly suggest that genes within DCR1 are involved in the pathogenesis of Down's syndrome. Twenty seven genes have been so far identified within DCR1, using tools of molecular genetics. The biological functions of most of these genes is not known yet. Their elucidation implies an intense, collaborative and international research task requiring the expertise of many researches in various fields of biology.Interestingly, four of these genes may be involved in the development or physiology of the central nervous system. They may, therefore, be candidates for involvement in the mental retardation characteristic of persons with Down's Syndrome. Two genes, SIM2 (single-minded) encoding a transcription factor, and MNB (minibrain) encoding a protein kinase, are human homologs of genes originally identified in Drosophila in which they are involved in the development of the central nervous system. These two genes are also expressed at early stages of brain development in human and other mammals. Two other genes, GIRK2 and KIR4.2, encode potassium channels that contribute to the maintenance of resting potential and control excitability of cells. They are expressed in the developing and adult central nervous system, and therefore may be involved in brain development an physiology.The role of these genes and other genes of the DCR1 in the pathogenesis of specific features of Down's syndrome will be established both by studying more patients with partial trisomy 21 and by creating cell and mouse models trangenica for these genes.
The Present State of Medical Aspects in Down's Syndrome
Rasore-Quartino, A.
Dept. of Pediatrics Galliera Hospital Univ. Of Genova Mure delle Capuccine, 14 16128 Genova, Italy Phone: 39-10-563.2464/2398 Fax: 39-10-563.26.99 E-mail: RASORE@galliera.it
Down Syndrome (DS) is a major cause of mental retardation, associated with characteristic facial and physical features, congenital anomalies of the heart and gastrointestinal tract; it carries an increased risk of leukemia, defects of the immune system and of Alzheimer's disease.A fundamental clue to the explication of complex phenotype determination in DS is due to recent studies showing specific effects of increased dosage of genes on chromosome 21. There is also evidence that environmental factors and other genetic influences are also responsible for phenotypic variations.The main aspects of medical interest in DS with respect to rehabilitation for a better quality of life of the affected persons are reviewed.Congenital heart defects are present in almost one half of newborns. They are a challenge to survival along with less frequent intestinal malformations. Inefficient regulation of myelopoiesis is the cause of transitory hematologic abnormalities and of the 10-20% increased risk of leukemia. A transitory benign leukemia is another characteristic of newborns with DS. Visual and hearing impairment are exceedingly frequent, increasing learning difficulties and hampering social insertion. Reduced immunologic competence has various aspects: the thymus is small, with lymphoid depletion and a thin cortex; both cell-mediated and humoral immunity are abnormal. Therefore an increased risk of infections is common. Important expressions of autoimmune disorders are thyroid disease, mainly hypothyroidism, and coeliac disease. Short stature, of multifactorial origin, is almost constant. Obesity and skin and dental affections are clinical problems affecting mostly adults. Impaired intellectual development is invariably present, but with a wide range of ultimate attainment that can, to some extent, be positively influenced by education. Muscular hypotonia is constant. Seizures can be found in about 6-8% of persons with DS; infantile spasms are clearly abnormally present. Atlanto-axial instability is mostly asymptomatic: occasionally, after head or cervical trauma, luxatin can show up, causing severe neurologic symptoms. Early aging always occurs and a dementia showing striking histological and clinical similarities with Alzheimer's disease can develop in more than 30% of adults after the age of 40. Knowledge of the natural history of DS is necessary for the correct prevention and treatment of primary and secondary disability. Recently developed medical and rehabilitative strategies have beneficially affected physical and social aspects of persons with DS.
PROMOTING THE DEVELOPMENT OF CHILDREN WITH DS: THE PRACTICAL IMPLICATIONS OF RECENT PSYCHOLOGICAL RESEARCH
Buckley, S.
University of Portsmouth Department of Psychology Belmont Street Southsea. Hants PO5 1NA. (UK) Phone:44-1-705824261 Fax:44-1-705824265 E-mail: sue.buckley@downsnet.org
This paper will present a review of recent research into the early cognitive development of children with Down Syndrome. It will focus in particular on research into the development of speech, language and working memory skills in comparison with the development of non-verbal mental abilities. The author will argue that speech and language skills are central to the development of mental abilities, being the main vehicle for the exchange of knowledge with a child and underpinning the development of thinking, reasoning and remembering abilities. Therefore, a major focus for intervention should be the teaching of speech, language and communication skills. The effectiveness of all forms of intervention programmes will be reviewed, including those advocating multisensory approaches using signing and print to develop spoken language skills. Remediation for the working memory delay will also be discussed. The paper will conclude with a review of the effectiveness of literacy programmes, and an outline of practical approaches to the teaching of reading from pre-school to early adult years. Longitudinal data collected by the author and her colleagues will be presented to illustrate the kind of progress in reading that can be expected for children with Down syndrome and the positive effect it can have on language and short term memory development.
THE FUTURE OF GENETIC RESEARCH ON DOWN SYNDROME
Epstein, C.J. University of California. Dept. of Pediatrics -U585L- San Francisco, CA 94143-0748. (USA) Phone:1-415-476.2981 Fax:1-415-476.9976 E-mail: cepst@itsa.ucsf.edu
There is, at the present time, a sense of excitement and anticipation among research workers interested in Down syndrome (DS). This field, like so many others, has been swept up in the rapidly accelerating progress that is being made in all aspects of biological science, ranging from molecular and cellular biology to the many facets of neurobiology and psychology. The tools and concepts that have been developed and the knowledge that has been gained have made it possible to look at DS in ways that would not have hitherto been possible. So, what about research on DS in the twenty-first century? Although crystal ball gazing and prognostication are fraught with danger, certain predictions would seem to be reasonable based on what we now know: The causative mechanisms in the genesis of aneuploidy are likely to be understood better, but a reduction in the rate of non-disjunction leading to trisomy 21 is less likely to be achieved. This is unfortunate, since this is where the ultimate solution to DS resides. Even the most ardent advocate of prenatal diagnosis would prefer prevention to abortion. Human chromosome 21 will be completely mapped and sequenced, the expressed genes will be identified, and their functions will be defined. * The phenotypic mapping of DS will improve, and the gene or genes responsible for many components of the phenotype, such as congenital heart disease, duodenal atresia/stenosis, inmunological impairment, leukemia, Alzheimer disease, and perhaps some of the more subtle physical differences, will be identified. Specific and characteristic cognitive deficits which distinguish DS from other forms of mental retardation will be elucidated. The greater the extent to which this proves to be possible, the more reasonable it will be to search for genes that have major effects on cognition. Such genes will undoubtedly be discovered. There is a reasonable likelihood of developing pharmacological and other forms of therapy that will ameliorate, and perhaps even prevent, mental retardation and Alzheimer disease. Given the large number of neurotrophic factors, neurotransmitters, and agents that alter neuronal function and synaptic transmission now known, and the many new ones that are likely to be discovered, and given our increasing understanding of and ability to manipulate these agents, it is not unreasonable to believe that approaches to improving cognitive function can be devised - provided that the structure of the nervous system during later fetal life and at the time of birth, the "hard wiring" as it were, does not irretrievably predestine the infant with DS to cognitive impairment. It is probably not essential that we know all of the genes on chromosome 21 before rational therapies can be considered. What is of equal or perhaps even greater importance is a precise definition of what the cognitive deficits in DS really are and of what are the neurophysiological, neurochemical, and neuroanatomical alterations that cause them. As we continue to learn moreabout how the brain works, research on DS will be the beneficiary of this knowledge and an understanding of what is impairing the function of the brain in DS will eventually be attained. With this understanding will come the approaches required for correcting the situation.
WHAT WE KNOW ABOUT INTELLECTUAL DEVELOPMENT IN CHILDREN WITH DOWN SYNDROME
Hodapp, R. Univ. of California UCLA Dep.of Special Educ. Graduate School of Education 405 Hilgard Av. Los Angeles, CA 90024 1521. (USA) Phone:1-310-825-6606/7990 Fax:1-310-206-6293
This talk examines the state of the art about intellectual development in children with Down syndrome. Using earlier studies as well as our own data on 50 children examined using the Stanford-Binet-IV, we examine longstanding questions concerning rates, profiles, and correlates of intelligence. For example, does IQ go down as children with Down syndrome get older, and, if so, are such declines seen in other areas of functioning and in children with other types of mental retardation? Do children with Down syndrome show particular intellectual strengths and weaknesses, and how might any profiles be used in intervention? In addition to addressing these and other issues of intellectual development, this talk suggests future directions in understanding intellectual development in children with Down syndrome.
LEARNING AND MEMORY IN DOWN'S SYNDROME
Nadel, L. Univ. of Arizona College of Arts and Sciences Fac. Social and Behavioral Sciences Department of Psychology Tucson, AZ 85721.(USA) Phone: 1-520-325-8315 Fax: 1-520-621-1112/9424/9306
Among the major consequences of Down Syndrome are impairments in learning and memory. In the past decade research studies have begun to uncover the specific learning defects observed in individuals with Down syndrome, at various ages. In this presentation I will review these recent findings, attempt to relate them to underlying neurological defects, and point to areas where more research is needed. I will concentrate on forms of learning and memory other than those involving the acquisition of various aspects of language. Recent discussions of learning and memory have emphasized the fact that there are multiple forms, involving the acquisition of different kinds of information. Each kind of learning seems to be primarily dependent upon different brain structures, and there is compelling evidence that these structures develop separately in early life. As a consequence, Down syndrome involves impairments in some, but not all, forms of learning. I will discuss both the kinds of learning that are relatively normal, as well as the kinds that are impaired, in Down syndrome. I will also compare the learning deficits observed in Down syndrome with those seen in other developmental syndromes, such as Williams syndrome and Fragile-X syndrome. It is now clear that the pattern of deficits observed in each of these syndromes is unique, presumably reflecting the different underlying neuropathology associated with each form of mental retardation. Current evidence suggests that forms of learning dependent on the hippocampus, cerebellum and prefrontal cortex may be particularly impaired in Down syndrome. These data will be reviewed in the context of what we currently know about the neurological status of these brain regions.
DOWN'S SYNDROME AND ALZHEIMER'S DISEASE
Wisniewski, H.M.
Institute for Basic Research in Developmental Disabilities 1050 Forest Hill Road, Staten Island NY 10314-6399. (USA) Phone:1-718-494-0600 Fax:1-718-698-3803
Until recently, it was assumed that the early occurrence of many AB plaques in persons with Down syndrome (DS) led to early development of Alzheimer disease (AD). However, evidence has been accumulating during the past decade that has caused us to re-evaluate this assumption. Increasing numbers of longitudinal studies employing a variety of assessment approaches have consistently failed to detect dementia in a majority of adults with DS over 30, and there is no indication of elevated risk for declines in adaptive functioning before adults with DS reach 50 years of age. Presented studies will show that the early lesions in DS are the diffuse, thioflavin-negative plaques, also called benign plaques. The neuritic, thioflavin-positive of malignant plaques and neurofibrillary tangles develop in large numbers 15-20 years later (after 50 years of age). It is known that DS is characterized by premature aging. It appears, therefore, that in DS as yet unidentified 'aging genes' like in the majority of the AD cases mediate development of neuritic plaques and tangles. The AB gene dose effect that was blamed before for the AD neuropathology appears to only affect the development of the diffuse, non-destructive plaques. There exists not only a great topographical, but also a great individual susceptibility to neurofibrillary pathology among persons with DS. Since the neurofibrillary pathology correlates well with dementia in AD and is responsible for neuronal loss in hippocampus, the observed difference among DS to develop dementia may be the result of different susceptibility to neurofibrillary pathology.
LANGUAGE IN DOWN SYNDROME: CURRENT PERSPECTIVES
Rondal, J.A.
Univ.de Liège Laboratoire de Psicholing. Boulevard du Rectorat, 5 Sart Tilman. B-4000 Liège.(Bélgica) Phone:32-43-662005/06 Fax:32-43-662906 E-mail:j.a.rondal@ulg.ac.be
The presentation will highlight the major indications currently available on the various aspects of language development and functioning in persons with Down Syndrome, i.e., phonology, lexicon, thematic semantics, morpho-syntax, pragmatics, and discourse organization. Practical and remedial implications will be addressed. The more specific aspects of the language organization in Down syndrome will be identified by comparison with other syndromes leading to corresponding levels of cognitive retardation.
TEMPERAMENT IN CHILDREN WITH DOWN'S SYNDROME
Beeghly, M.
Child Develop.Unit.Children's Hospital 1295 Boylston street, Suite 320 Boston, MA -02215-(USA) Phone:1-617-355.4609 Fax:1-617-859-72.15 E-mail: BEEGHLY@A1.TCH.HARVARD.EDU
The primary objective of this paper is to review and critically evaluate what is known empirically about the temperament of young children with Down's syndrome. Temperament refers to the characteristic style or manner with which persons engage their world. Individual differences in dimensions of temperament are well documented for normally developing children. For instance, some children boldly approach novel persons or events, whereas other children of equal intelligence tend to withdraw from them. Children also vary in how active they are, in how quickly and intensely they react to stimulation, and in their emotionality.Temperament plays an important role in children's successful adaptation in life. Although temperament characteristics are thought to have roots in biological and constitutional factors and to be relatively stable during childhood, the expression of temperament may be modified by environmental experiences (e.g., parenting). In addition, specific dimensions of temperament may change with age and with children's growing cognitive and self-regulatory capacities.The following questions will be addressed: How does Down's syndrome affect the temperament of infants and children? In what ways do children with Down's syndrome differ from other groups of mentally retarded children and from normally developing children? What is the impact of children's chronological age and cognitive level on the expression of dimensions of temperament? Evidence from objective behavioral observations of children as well as from parental and teacher reports will be considered in answering these questions. Future directions for research and implications for parenting children with Down's syndrome will be discussed.
THE EFFECTIVENESS OF EARLY INTERVENTION FOR CHILDREN WITH DOWN'S SYNDROME
Guralnick, M.
Center on Human Development and Disability Box 357920 Univ.of Washington. Seattle, WA 98195-7920. (USA) Phone:1-206-5432832Fax:1-206-5433417 E-mail:mjgural@u.washington.edu
The purpose of this presentation is to analyze the current state of our knowledge regarding the effectiveness or early intervention for children with Down's syndrome. Early intervention issues will be placed within a developmental perspective in order to examine the specific effects of early intervention, the reasons why it may be effective, current limits of early intervention effectiveness, especially long-term outcomes, and prospects for future research and practice. To further enhance early intervention effectiveness for children with Down's syndrome, issues related to promoting self-reflection, expanding upon the child's focus of interest, medical advances, adapting to parental coping styles, and minimizing a 'performance' approach will be discussed.
EL DIAGNOSTICO PRENATAL: DE LA SORPRESA A LA CERTEZA
Fortuny, A.
Unidad Consejo Reproductivo y Diagnóstico Prenatal Hospital Clinic. Universidad de Barcelona Villarroel, 17008036 Barcelona (España) Phone:93-227.54.00 Fax:93-227.54.54
El diagnóstico prenatal del Síndrome de Down (SD) ha experimentado una notable evolución a lo largo de las dos últimas décadas. En este periodo se ha pasado del diagnóstico de sorpresa, realizado en el momento de nacer, al diagnóstico de certeza en la primera mitad de la gestación.Las ventajas derivadas del diagnóstico precoz se han puesto en evidencia desde distintas perspectivas, aunque el elemento común a todas ellas es la obtención de información precisa para la toma de conciencia y vivencia anticipada por parte de la pareja de lo que va a ser el nuevo ser concebido.En los años 70 se inició el desarrollo y difusión de los aspectos técnicos para el diagnóstico de anomalías cromosómicas fetales 'in útero'. El acceso a la intimidad fetal a través del líquido amniótico, utilizado ya en los años 50 para la valoración de la isoinmunización por incompatibilidad feto-materna del factor Rh, permitió la obtención de células representativas del feto para el estudio de distintos aspectos genéticos. Entre ellos el diagnóstico del S.D. por su frecuencia relativamente alta fue uno de los focos principales de atención diagnóstica, con una prevalencia de 1.5 por mil nacidos vivos, y en 1967 se publica el primer diagnóstico prenatal de SD.La obtención del líquido amniótico (amniocentesis) en épocas relativamente precoces de la gestación es un procedimiento invasivo y no totalmente exento de complicaciones. La introducción de la ecografía permitió, entre otras cosas, la realización de estos procedimientos con máxima inocuidad para el feto y la madre.En la década de los 80 se consiguen los medios técnicos y de laboratorio para el estudio genético fetal, con mayor precocidad de la que era posible con la amniocentesis y sin invadir el compartimento fetal, con la obtención de pequeñas muestras de la placenta (biopsia corial) durante el primer trimestre de la gestación.A mitad de la década de los 80 el esfuerzo se centra en delimitar con mayor precisión las gestaciones con mayor riesgo de anomalía cromosómica fetal. La edad materna avanzada, ligada a mayor riesgo de errores de disyunción durante la formación de gametos, se ha venido utilizando como criterio prevalente para ofrecer la realización de procedimientos diagnósticos. Sin embargo mas de 2/3 de los nacidos con SD se observan en gestantes menores de 35 años. Ello, junto a la tendencia observada del aumento progresivo en la proporción de las madres de edad avanzada en los países industrializados, ha conducido a un esfuerzo en la selección de gestaciones para realización de los procedimientos de diagnóstico invasivo.Con ello se entra en la etapa del 'screening' o cribaje por medios relativamente simples, de aceptable fiabilidad y de bajo coste, aplicables a todas las gestaciones. Así la determinación de ciertos 'marcadores' bioquímicos que, en presencia de un feto con SD, se detectan en cantidades anormalmente altas o bajas en una muestra de sangre materna, o determinadas modificaciones estructurales del feto detectables mediante ecografía, proporcionan una mayor precisión en establecer el riesgo de existencia de S.D. Con ello es posible la indicación más ajustada racional y coste-efectiva de procedimientos de diagnóstico invasivo y al mismo tiempo evitar un cierto número de pérdidas fetales relacionadas a procedimientos innecesarios.La difusión y demanda de diagnóstico prenatal para el SD, así como las actitudes frente a su diagnóstico de certeza, varían en función de diversos factores de orden cultural, éticos, religiosos, socio-económicos, facilidad de acceso en su obtención según el sistema de salud prevalente en distintos países, así como de percepción del riesgo por parte de la gestante o de la pareja.Actualmente, con la combinación del estudio citogenético y ecográfico, puede conocerse no solo la existencia de la anomalía cromosómica sino su posible asociación a otras alteraciones no siempre asociadas al SD y que sin duda modifican la perspectiva postnatal de esta anomalía, como es el caso de las cardiopatías congénitas o atresia duodenal.
INCLUSION: UNA FORMA COMPROMETIDA DE TRABAJAR EN LA ESCUELA
García, C.
Univ. De Sevilla. Facultad de Ciencias de la Educación. Dpto. de Didáctica. Avda. San Francisco Javier, s/n 41005 Sevilla (España) Phone:95-4557817
El objetivo de nuestra intervención es explicar la inclusión como una forma comprometida de trabajar en la escuela. Para ello partiremos de la revisión del sentido de lo 'exclusivo' como algo valorado por la sociedad positivamente en relación a todo lo elitista, refinado, de un gran nivel, etc., señalando la conveniencia de reflexionar sobre nuestra propia experiencia en cuanto al sentido de pertenencia a determinados grupos, la necesidad de identificarnos con nuestros iguales y, en definitiva, nuestras propias contradicciones en la aceptación de los diferente.Hemos entendido hasta ahora benévolamente lo exclusivo, porque no hemos querido darnos cuenta de su verdadero significado: lo exclusivo excluye todo aquello que por las más variadas razones no nos gusta. Puede que en la esfera de lo privado sea legítimo rodearnos de lo que nos gusta, desde luego no lo es cuando se trata de lo público. Obviamente lo público no puede ser exclusivo, sería una pura incoherencia. Sin embargo, muchas instituciones públicas han sido exclusivas, la escuela entre ellas. La escuela ha tenido una larga tradición seleccionando alumnos por los más variados procedimientos para, en definitiva, responder a un único objetivo: evidenciar la falta de capacidad (habilidades) del alumno para adaptarse al curriculum, programa y pedagogía que constituían su oferta. Ha conseguido así ir apartando alumnos para llegar a los niveles superiores de educación con un porcentaje mínimo de los que empezaron... Por eso nuestro planteamiento arranca de la pregunta siguiente ¿hasta dónde la escuela está dispuesta a comprometerse con lo público e inclusivo y hasta dónde va a seguir favoreciendo lo selectivo, elitista y exclusivo?.Partiendo de este planteamiento señalaremos como podemos reconocer argumentos teóricos y prácticos que respaldan posiciones comprometidas con la educación inclusiva, es decir, comprometidas con la idea de favorecer una escuela que incluya a todos, que no seleccione, que no juzgue negativamente lo diferente, que se diversifique en sus ofertas...
ASSISTIVE TECHNOLOGY COMPENSATING PEOPLE WITH DOWN'S SYNDROME
'When dreams come true' is the theme of this conference. One of the ways to implement these dreams, according to us working at Handitek, is with the help of assistive technology. Our aim is the equalization of opportunities for persons with cognitive disabilities in all areas of society as education, employment and family life. Assistive devices might reduce the 'handicap' a person with cognitive disablilites experiences in the encounter with the environment. Until a few years ago, people with Down's syndrome did not receive any assistive device compensating for their primary loss of function. They might, if lucky, get assistive devices for secondary disabilities, like mobility, vision or hearing, but not for reduced intellectual function. The reasons for this were that hardly any compensatory devices existed and the lack of knowledge and awareness in the field. To facilitate development in this area, the general public, politicians, medical staff, engineers and others involved, must be aware of the necessity of equal opportunities for persons with Down's syndrome. They also need to have knowledge of the possibilities that come with technology, especially electronic devices like computers. In fields that persons with Down's syndrome might find problematic, like writing, calculations and time, computers are excellent. Today there are assistive devices developed by Handitek and other companies compensate reduced cognitive functions. Some of the devices will be described in this lecture. With them the dreams about equal opportunities and independence for persons with Down's syndrome might come true.
PERSONAS CON SINDROME DE DOWN: CALIDAD DE VIDA Y AUTONOMIA
Perera, J.
Centro Príncipe de Asturias. Universidad de las Islas Baleares (UIB) Km 7'5 Carretera Palma-Alcudia. 07141 Marratxí (Baleares) (España) Phone:971-604914 Fax:971-604998
RESUMEN: En la actualidad el tema de calidad de vida de la persona con síndrome de Down (S.D.) es un tema estrella en la atención a este grupo humano. Sin duda este es el resultado de la aplicación de los principios de normalización e integración social. Calidad de vida debería incluir los aspectos socio-económicos y socio-psicológicos de la vida. Calidad de vida significa: un buen estado físico y una buena salud mental, buenas relaciones sociales, actividades y experiencias culturales, satisfacción personal y actividades prácticas que hacen que el individuo se sienta satisfecho de su existencia y en su entorno.Uno de los principales problemas es realizar una evaluación objetiva de las características concretas de la persona con S.D. e identificar sus necesidades psico-sociales. Es un reto para los profesionales desarrollar modelos y métodos mediante los cuales las personas con síndrome de Down puedan alcanzar el máximo nivel de calidad de vida. Esto tiene especial importancia para la autonomía en la edad adulta.
ABSTRACT: At present the quality of life of persons with Down Syndrome (D.S.) has become a leading issue in the care of this population. Undoubtedly this is the result of developments in the normalisation and social integration principles. Quality of life should include both socio-economic and socio-psychological aspects of living. Quality of life includes an optimum physical and mental health, social relationships, cultural activities and experiences, personal wealth, and functional practices which make the individual subjectively satisfied with his or her existence in his or her surroundings.One of the main problems is making an objective assesment of the subjective state of the persons with D.S., as well as an identification of his psychosocial needs. It is a challenge for professionals to develop methods which raise the quality of life to maximum levels. This has special relevance for the autonomy in adult age.
SEXUALITY AND DOWN SYNDROME
Van Dyke, D.C., McBrien, D.M., Siddiqi, S., Petersen, M.C.
The Univ. of Iowa Hospitals and Clinics Division of Developmental Disabilities Depart. of Pediatrics 100 Hospital School Iowa City, Iowa 52242-1011. (USA) Fax:1-319-3568284
Individuals with Down Syndrome increasingly find themselves dealing with social interactions, higher visibility in the community, and improved opportunities for employment. As this occurs, sexuality, in all its complexity, becomes an issue of increased importance. Friendships, relationships, and sexuality are normal parts of adult human development. For some individuals this may mean friendship; for others, physical closeness; and for some, it may mean marriage and children.A growing body of literature is expanding the dialogue regarding sexuality and sexual expression for individuals with Down Syndrome. Unfortunately, this is not always linked to appropriate sex education programs, parent education programs, nor to the development of support systems and mechanisms for guidance to insure, meaningful sexual and personal relationships, to prevent abuse and pregnancy, and to offer ongoing guidance on the issues of sexual activity, marriage, and childrearing.
THE WORKING ROLE, A SOCIAL CITIZENSHIP FOR THE ADULT WITH DOWN SYNDROME
Montobbio, E.
Centro Studi per l'Integratione dei disabili- U.S.L. 3 Sal. Inf. S. Rocchino 4ª 16122 Genova (Italia) Phone:10-59.98.22.90/1 Fax:10-59.98.22.92
The actions and discussions about people with Down's syndrome are centred on the mental representation we have of them. On the other hand their identity is built through permanent interaction between the individual process of identification and the collective elements of recognition.The dream of acquiring a working role and adequate citizenship does not come true through magic but it is the challenge, both for science and culture, to meet the need of these men and women to exist as individuals.This challenge for a quality of life, which is not only measured by productivity, means meeting the need that each person with Down's syndrome (of every age) has for normality as well as implementating projects for training and inclusion in the 'normal' world, in particular in the world of work. These projects, which we call 'of mediation', aim to allow:
The individual to learn social skills and to achieve the personal growth necessary for the working role;
The community to abandon prejudice and to make an effort to adapt the environment (especially at work) for inclusion. In Genova (Italy) the projects for the inclusion of people with a learning disability into open work settings have proved successful for more than 500 people (10% have Down's syndrome). This experience shows that:
It is possible to have a working role;
The methods have to include an 'area of mediation', that is to say, projects and professionals able to establish a successful match between the individual and the workplace;
The working role is a main factor towards the individual with Down's Syndrome achieving adult identity, as well as being an exceptional source of learning and the necessary condition for real social inclusion.