Attaining human dignity for people with birth defects: A historical perspective

People with birth defects have been stigmatised, marginalised and discriminated against for millennia, diminishing their human dignity and abrogating their human rights. Beginning with the United Nations Universal Declaration of Human Rights, promulgated in 1947, the circumstances in which human dignity in healthcare for people with birth defects could be achieved arose, and this was accomplished over the next 65 years through the insight, hard work and dedication of a select group of people and organisations. In 2010 the World Health Organization prioritised services for the care and prevention of birth defects, particularly in middle- and low-income countries. Translating what has been achieved into human rights in healthcare for people with birth defects is the next objective.

Need for services for the care and prevention of congenital disorders in South Africa as the country’s epidemiological transition evolves

The lack of prioritisation of services for the care and prevention of congenital disorders is a global concern. Reducing child mortality (MDG4) can be achieved by middle- and some low-income nations, including South Africa (SA), by focusing on congenital disorders. We performed a situational analysis of epidemiological transition and services for congenital disorders in SA to highlight their renewed need, in the form of a review of epidemiological transition in SA from 1990 related to the HIV/AIDS epidemic and services for congenital disorders. In the early 1990s in SA decreasing infant and child mortality revealed the previously hidden burden of disease of congenital disorders. Approaches to confront this burden were developed and incorporated in national policy guidelines published in 2001. The emergent HIV epidemic buried the issue, and as services for HIV/AIDS developed, services for the care and prevention of congenital disorders were simultaneously neglected. They are now at a base lower than in 2001. Infant and child mortality rates are at a more advanced level than their previous best levels in the early 1990s, but they are stagnating. There is therefore a renewed need for services for the care and prevention of congenital disorders. The present limited state of these services must be rectified urgently. Services for the care and prevention of congenital disorders require prioritisation again in accordance with Resolution WHA63.17 of the World Health Organization, and to achieve the human dignity and constitutionally and legally enshrined rights of people affected by congenital disorders.

Thyroid dysfunction in a cohort of South African children with Down syndrome

Background. While international studies show thyroid dysfunction occurs more commonly in individuals with Down syndrome (DS) than in the general population, there is a paucity of available data from sub-Saharan Africa.Objectives. To document the range of thyroid function in a cohort of South African children with DS, and to assess referral and treatment practices when thyroid dysfunction was present. Methods. A retrospective file-based study of 391 children with DS seen at the genetic clinics at three Johannesburg hospitals from 2003 to 2008. Thyroid function test (TFT) results (thyroid-stimulating hormone and free thyroxine) and demographic details were collected for each child. Endocrine clinic files from two of the hospitals were reviewed for additional referral and treatment information.Results. The majority (83.6%) of children had at least one TFT, in most cases performed between the ages of 2 and 12 months. The most common form of thyroid dysfunction was subclinical hypothyroidism (SCH) (28.7%). Up to one-third of the patients, including several neonates with abnormal results, were not referred for further evaluation and were therefore not receiving the necessary treatment. Inter- laboratory biochemical discrepancies and lack of population-specific reference ranges complicated the interpretation of results. The controversy surrounding whether, and how, to treat SCH influenced treatment practices. Conclusions. Thyroid dysfunction is prevalent in South African children with DS. There is an urgent need to address the laboratory biochemical discrepancies, and to establish guidelines for surveillance and treatment to prevent further irreversible neurological and physical impairment.

Type 1 diabetes: translating mechanistic observations into effective clinical outcomes

Type 1 diabetes remains an important health problem, particularly in Western countries where the incidence has been increasing in younger children(1). In 1986, Eisenbarth described Type 1 diabetes as a chronic autoimmune disease. Work over the past 3 ½ decades has identified many of the genetic, immunologic, and environmental factors that are involved in the disease and have led to hypotheses concerning its pathogenesis. Based on these findings, clinical trials have been conducted to test these hypotheses but have had mixed results. In this review, we discuss the findings that have led to current concepts of the disease mechanisms, how this understanding has prompted clinical studies, and the results of these studies. The findings from preclinical and clinical studies support the original proposed model for how type 1 diabetes develops, but have also suggested that this disease is more complex than originally thought and will require broader treatment approaches

Down syndrome in black South African infants and children - clinical features and delayed diagnosis

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Mediese genetika in Suid-Afrika : lesse uit die verlede, uitdagings vir die toekoms

Mr Vice-Chancellor and Principal, Dean of the Faculty of Medicine, colleagues and friends, I have in the preceding address delineated my vision of the core role of medical genetics as it pertains to medicine in South Africa today. In undertaking this I have related the development of Human and Medical Genetics internationally to that in our own country, both past and present. Thereafter I have attempted to offer some insights into the challenges my generation of medical geneticists is facing in the new millenium. These challenges offer us the opportunity of evolving solutions for our own unique South African circumstances. However, I believe implicitly that these answers will have consequences, not only for us but also for other underdeveloped countries and the First World. Although the Department of Human Genetics and Developmental Biology is small and our history short, I am confident that, as we have managed to be in the vanguard of developments in medical genetics this decade, this will continue into the next century.p. 23-33: Publikasies van die Universiteit van Pretoria (Nuwe Reeks)http://explore.up.ac.za/record=173912