Articles of the DS Medical Review

  • The skin and its manifestations in children with Down’s syndrome

    The skin and its manifestations in children with Down’s syndrome

    Chromosomal disorders are not usually associated with specific alterations of the skin,with Down's syndrome being an exception, because the skin of the new born with this syndrome is soft, thin and delicate. It subsequently becomes coarser, drier and rougher, and generalised xerosis associated with keratosis pilaris is common. In the case of mucous membranes, macroglossia and scrotal tongue with protrusion and cleft lip are very common features. Premature aging of the skin and photosensitivity are common features in these patients. The following are among the most significant skin disorders: cutismarmorata, xerosis, palmoplantar hyperkeratosis, cheilitis, seborrhoeic dermatitis, folliculitis, tinea pedis, onychomycosis, crusted scabies (Norwegian scabies), atopicdermatitis, alopecia areata, vitiligo, psoriasis (severe form), pityriasis rubra pilaris, syringoma, elastosis perforans serpiginosa and cutis verticis gyrata. The aim of this studywas to carry out a review of existing literature on major dermatological processes and their prevalence in the paediatric patient with Down's syndrome.

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    Volum 15. Issue 2. July 2011

  • Healthcare for infants and toddlers (part I)

    Healthcare for infants and toddlers (part I)

    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.

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    Volume 15. Number 1. March 2011

  • Responding to the pain experiences of people with a learning difficulty and dementia

    Responding to the pain experiences of people with a learning difficulty and dementia

    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.

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    Volume 15. Number 1. March 2011

  • Pediatrics, Down’s syndrome and allergic disease

    Pediatrics, Down’s syndrome and allergic disease

    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.

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    Volume 15. Number 1. March 2011

  • Sexuality and Down syndrome

    Sexuality and Down syndrome

    Introduction: The emotional sphere and its relationships with sexual identity and awareness of disability in a person with Down syndrome (DS).
    Case report: 25-year-old woman with DS who has a psychotic episode with delusions when a tubal ligation is being considered. The condition arises due to a conflict between sexuality and identity.
    Discussion: People with Down’s syndrome can undergo unharmonious development or remain anchored in previous evolutionary stages. This situation, together with difficulties to symbolise, can lead to psychotic mental disorders, as in this case.

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    Volume 14. Number 3. November 2010

  • Acute lymphoblastic leukemia in children and Down syndrome: Analysis of SHOP/ALL-’99 and ‘05 Protocols

    Acute lymphoblastic leukemia in children and Down syndrome: Analysis of SHOP/ALL-’99 and ‘05 Protocols

    Introduction and objective: Down syndrome bears a known predisposition to childhood leukemia. In regards to acute lymphoblastic leukemia (ALL), most international groups show poorer results when compared to non-Down patients.
    Patients and methods: With this study we analyze the results obtained with Down syndrome patients and ALL younger than 18 years who were treated with SHOP (Spanish Pediatric Hematology Society) protocols for the past decade.
    Results: Current data obtained from 1000 patients out of 32 centers confirm several aspects: those are related to acute leukemia showing clinical and biological low risk treats, thereof they may be categorized in low risk groups hence receive scheduled chemotherapy of moderate intensity. However, the number of infectious and toxic complications is greater than those for non-Down patients, therefore both overall survival (OS) and event free survival (EFS) are markedly affected.
    Conclusions: The future aim is to optimize the knowledge on biological aspects of these leukemia, in order to determine those features to be acted upon to improve their outcome.

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    Volume 14. Number 3. November 2010

  • School stage and students with Down syndrome

    School stage and students with Down syndrome

    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.

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    Volume 14. Number 2. July 2010

  • Community-acquired pneumonia in adults with Down syndrome. Three clinical cases and a review of the literature

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

    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.

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    Volume 14. Number 2. July 2010

  • Can bioethics help towards a better respect?

    Can bioethics help towards a better respect?

    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.

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    Volume 14. Number 2. July 2010

With the collaboration of:

  • Grupo Uriach
  • Laboratorios Leti
  • Esteve
  • Ferrer

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