Mar. 11': Healthcare for infants and toddlers (part I)

M. Golanó Fornells

Center for Child Development and Early Intervention (CDIAP), Fundació Catalana Síndrome de Down, Barcelona, Spain.

Abstract
This article is about healthcare for infants and toddlers between 0 and 6 years with different types of organic, psychological or social difficulties. It outlines some specific fundamentals with regards healthcare for infants and toddlers, lines of research and current healthcare issues.

Mar. 11': Pediatrics, Down’s syndrome and allergic disease

F. Muñoz-López

Former Chief of Pediatric Allergology Service, Hospital Clínic-Sant Joan de Déu, Faculty of Medicine, Barcelona, Spain.

Abstract

Allergic diseases have a genetic basis (atopy), meaning that inheritance is a determining factor in the development of these processes. Respiratory pathologies are the most common, although reactions to foods and drugs also occur. The most common clinical manifestations occur in the skin and digestive tract, and generalised reactions
(anaphylaxis) can often occur that can be severe or even fatal. The increase in respiratory pathologies in recent years has been linked to a reduction in infectious diseases in developed countries. The activity of Th1/Th2 lymphocytes has become imbalanced, leaning towards the Th2 that are responsible for producing antibodies against allergens (“hygiene hypothesis”). In spite of this, children with trisomy 21, with the wide gamut of
altered genes responsible for many of the processes associated with this syndrome, rarely suffer from allergic diseases. This is reflected in the small number of publications on this field. In contrast, immune response to pathogens is constantly affected (greater incidence of infections requiring the production of specific antibodies produced by Th1 lymphocyte activity) along with other processes (auto-immune, leukaemia) related to patient
immunity, and this could be the cause of the reduced possibility for allergic reactions.

Mar. 11': Responding to the pain experiences of people with a learning

D. Kerr *, C. Cunningham and H. Wilkinson

Centre for Research on Families and Relationships, University of Edinburgh, Edinburgh, United Kingdom.

Abstract

People with a learning disability are living longer. This increased longevity brings with it the conditions of older age including dementia. Amongst people in the general population who have dementia there is inadequate pain recognition and treatment. Limited research has been undertaken on the pain management needs of people with a learning disability who have dementia, yet they will experience high levels of physical health needs that will, as a consequence, result in pain. The research study ‘Responding to the Pain needs of People with a Learning Disability and Dementia explored the detection, management and understanding of pain amongst a range of professional groups involved in supporting people with a learning disability who have dementia. The study also recorded the experiences and views of some people with a learning disability who had dementia.
The dilemmas and obstacles to effective pain management were explored. It was found that the pain experiences and management of people with a learning disability who have dementia mirrored findings in the general population. The research did, however, identify extra and compounding issues in relation to people with a learning disability. Drawing on this research this article outlines recommendations for practitioners and service providers and discusses the key lessons for responding more effectively to pain in people with
Down’s syndrome and dementia.

Jul. 10': Can bioethics help towards a better respect?

M. A. Broggi

President of the Catalan Society of Bioethics, Barcelona, Spain

The conquering of dignity is the consideration which all human beings deserve simply for what we are in each and every one of the particularities and differences which define us; applicable to persons with disabilities as much as the rest. In addition, respect dignifies those who feel and show it. Bioethics would like to put within our reach a habit of critical thinking and reasoned analysis of our behaviour, to identify the values on which we base our actions. The ethics sustaining it by no means correspond to moralism, rather a rational consideration of what and why we do something. It is a question of acquiring greater awareness in order to be able to progress and help with this. Progress and health as concepts are closely linked to the idea of personal emancipation. To consider this self-construction, it is a question of seeing it as an effort, always admirable, to take advantage of the opportunity to live. This effort deserves to enjoy entitlement to general protection, i.e., lack of-discrimination, privacy and confidentiality: an expression of autonomy taking the form it takes and having limitations. The help which everyone needs must be a companion sensitive to personal and changing needs. Accompanying does not mean walking in somebody else’s place, nor overtaking them, but knowing how to be with someone and walk “by their side”. If we take seriously human rights of all humans whatever their characteristics, then we will see that the questions we should ask ourselves are numerous, daily and requiring courage.

Jul. 10': Community-acquired pneumonia in adults with Down syndrome. Three clinical cases and a review of the literature

J. A. Hermida Pérez (a,b), J. S. Hernandez Guerra (c)

a Community and Family Medicine, Universidad de Las Palmas de Gran Canaria, Gran Canaria, Spain
b Emergency Department of Los Llanos de Aridane, Santa Cruz de Tenerife, Spain
c Specialist in Community and Family Medicine, Health Centre of Villa de Mazo, Santa Cruz de Tenerife, Spain

John Langdon Down first described this genetic disorder known today as Down syndrome (DS), due to a trisomy of chromosome 21. The frequent appearance of respiratory infections in DS is attributed to structural and functional anomalies of the respiratory system, the presence of congenital heart malformations and IgG deficits. We present three clinical cases of adult DS patients with community-acquired pneumonia, and a review of the literature regarding: epidemiology, prevalence, symptomatology, laboratory and radiographic findings, morbidity, mortality, clinical evolution and the importance of prevention of pneumonia in DS patients. These patients presented symptoms of acute infection of the lower respiratory tract: high fever, scanty productive cough with or without sputum, pleuritic chest pain, dyspnea, fatigue, myalgia, and other atypical symptoms. Chest radiography showed focal inflammatory condensation in the affected lung and bilateral alveolo-interstitial infiltrate. Laboratory tests showed increased values of leukocytes and C-reactive protein, deficiency of IgG and low lymphocyte CD4+. Patients with DS are highly susceptible to lower and higher respiratory tract infection. Community physicians should take exceptional precautions on detecting respiratory symptoms in these patients, since they may result in pneumonia and bronchopneumonia. Presentation may be atypical and the complications may even lead to mortality.

July 10': School stage and students with Down syndrome

T. Valls Gubern

Coordinator of School Stage Follow-up Service, Fundació Catalana Síndrome de Down, Barcelona, Spain

The changes in schooling implemented with the object of improving quality and including all students are benefiting Down syndrome students. Their role is valued and their active and direct participation in the educational process is promoted. However, for these included students to feel they are capable students they must construct their knowledge of themselves and their personal relationship and social skills to face the challenges of the environment in better conditions and in a standard way.

March 10': Coeliac disease profile in Down syndrome patients

A. Rodríguez Martínez *, B. Espín Jaime, A. González-Meneses López, M. González Fernández-Palacios, A. Pizarro Martín, I. Gómez de Terreros Sánchez

*Gastroenterology Section, Paediatric Hepatology and Nutrition, Social Paediatrics and Dismorphology Section, Virgen del Rocío University Hospitals, Seville, Spain

Introduction and objective. Individuals with Down syndrome (DS) are a major risk group for coeliac disease (CD). The aim of this study is to fi nd differences in the CD profi le in this group in order to take a different medical approach.
Patients and methods. This observational, descriptive and comparative study included 81 patients aged under 15 years monitored between January 1999 and December 2008. Patients were divided into two groups, a fi rst group including 28 children with CD and DS, and a second age— and sex-matched group of 53 children with CD and no DS. Retrospective data from medical records were analyzed. Results. There were no statistically signifi cant differences in age at diagnosis, clinical presentation, symptoms at diagnosis, body measurements, serological markers and histological data. Members of the DS group were signifi cantly likelier to have no family history of CD or an association with autoimmune thyroiditis. Breastfeeding was initiated less frequently in the DS group, and the introduction of gluten was signifi cantly delayed. The genetic study showed a signifi cantly high frequency of the DQ8 heterodimer in patients with SD.
Conclusions. The clinical profi le of CD in children with DS appears to be similar to that for children without this condition. The risk heterodimer distribution in DS individuals in this series differs from published data. Some nutritional features in this population could entail new risk factors that might trigger the onset of CD.