Recent studies have evaluated possible links between polymorphisms in maternal folate metabolism genes and Down syndrome. Some of these studies show a significantly increased prevalence of the C677T polymorphism of the 5,10-methylene tetrahydrofolate reductase (NADPH) gene (MTHFR) among mothers who have had babies with Down syndrome. This study…

Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of…

An exciting multi-agency project to create a future for children with Down syndrome where they can more effectively express their opinions. This work recognises the need to remove barriers and push boundaries associated with the reduced ability to verbalise and was planned to give every child with Down syndrome in mainstream schooling in…

Behavioural approaches can be used effectively to teach new skills and to change behaviours that are challenging and not socially adaptive. The behaviour modification approach--now called applied behaviour analysis--is based on the assumption that all behaviours are learned, both the useful ones (new skills) and the ones that are not so useful…

This article reports a summary of research by Warren Zigman and colleagues investigating the link between cholesterol levels and Alzheimer type dementia among adults with Down syndrome. Warren Zigman and colleagues followed 123 adults with Down syndrome between May 1998 and April 2006. The participants were aged between 41 and 78 years at the…

Folate is an important vitamin that contributes to cell division and growth and is therefore of particular importance during infancy and pregnancy. Folate deficiency has been associated with slowed growth, anaemia, weight loss, digestive disorders and some behavioural issues. Adequate folate intake around the time of conception and early pregnancy…

Mouse models are a standard tool in the study of many human diseases, providing insights into the normal functions of a gene, how these are altered in disease and how they contribute to a disease process, as well as information on drug action, efficacy and side effects. Our knowledge of human genes, their genetics, functions, interactions and…

This paper outlines the strengths and weaknesses in both short-term and long-term memory in Down syndrome, and the implications of these patterns for both other aspects of cognitive development and underlying neural pathology. There is clear evidence that Down syndrome is associated with particularly poor verbal short-term memory performance, and…

Most people probably assume that the quality and type of education that children receive in school influences academic progress, but may be less clear about the ways in which parents can also influence outcomes. When a child has a developmental disability then the most people will be less confident about predicting the effects of schools or…

Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…

Children with Down syndrome are at an increased risk for engaging in challenging behaviour that may present problems within community, leisure, and educational settings, and, in many instances, precludes them from accessing these environments. Factors contributing to the occurrence of challenging behaviours include characteristics associated with…

In recent years there has been much research interest in looking for behavioural phenotypes (or specific profiles of strengths and weaknesses) that are associated with specific conditions--particularly conditions with genetic origins such as Down syndrome. This kind of information may be very helpful in alerting parents and professionals to the…

Children with Down syndrome experience significant communication impairments, particularly in expressive language. Although receiving little attention in the literature, deficiencies in expressive language are likely to affect spontaneous communicative responses in children with Down syndrome. In this study, using a multiple baseline design across…

According to the medical profession the direction and scope of reproductive services such as IVF and pre-natal screening are based on solid evidence; the evidence indicates these are effective and safe services. Moreover, women want them. As a consequence these services are usually presented to the wider community in a positive light with images…

Individuals with Down syndrome are predisposed to show a specific behavioural phenotype, or a pattern of strengths and challenges in functioning across different domains of development. It is argued that a developmental approach to researching the Down syndrome behavioural phenotype, including an examination of the dynamic process of the unfolding…