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Reviews

28 October 2008

Memory and learning – using mouse to model neurobiological and behavioural aspects of Down syndrome and assess pharmacotherapeutics

This paper by Katheleen Gardiner reviews the challenges inherent in using mouse models in Down syndrome research and then describes the successful molecular/genetic interventions that are cause for cautious optimism. The paper also predicts critical molecular abnormalities that can be tested for relevance to learning and memory and that are potential targets of existing pharmacotherapeutics. Read full article at: http://www.down-syndrome.org/reviews/2096/

22 October 2008

Families of children with Down syndrome: What we know and what we need to know

This Review presented at the Down Syndrome Research Directions Symposium 2007 provides an overview of what is currently known about families of children with Down syndrome. In addition, it highlights a number of issues that require further research if we are to have a thorough understanding of the impact of a child with Down syndrome on families as a system and on the individuals who make up that system. Full text available at: http://www.down-syndrome.org/reviews/2079/

The developmental approach to the study of Down syndrome: Contemporary issues in historical perspective

This Review, presented at the Down Syndrome Research Directions Symposium 2007, considers how the developmental approach provides an essential framework for understanding Down syndrome. Paradoxically, this framework both narrows and broadens the scope of research in the field. The narrowing involves a more fine-tuned approach to diagnosis, a more precise delineation of skill in relation to specific aetiology and developmental level, and fine-tuned matching strategies that involve comparisons on specific aspects of functioning. The broadening of the scope involves the consideration of the “whole child” in terms of personality, social, and emotional development, within the context of families, communities, and societies. This far-reaching developmental perspective revolutionised the study of intellectual disabilities with its theoretical, methodological, and interpretive innovations, while this more precise approach to the study of persons with intellectual disabilities in turn served to transform developmental theory by challenging, extending, and reconceptualising well-established developmental principles. Full text available at: http://www.down-syndrome.org/reviews/2081/

The Down syndrome behavioural phenotype: Taking a developmental approach

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. In this Review presented at the Down Syndrome Research Directions Symposium 2007, it is argued that a developmental approach to researching the Down syndrome behavioural phenotype, including an examination of the dynamic process of the unfolding of the phenotype, will advance science and service for this population. Related issues including the distinction between primary and secondary phenotypic features, heterotypic continuity, and methodological implications are discussed. Full text available at: http://www.down-syndrome.org/reviews/2069/

Speech production in people with Down syndrome

There is a well developed literature on the development of vocabulary and grammar in children with Down syndrome but limited information in the area of speech production. The spoken language of people with Down syndrome often leads to a lack of intelligibility which does not necessarily diminish with age, despite slow but steady development of phonology. This Review presented at the Down Syndrome Research Directions Symposium 2007 explores some of the elements in speech production which may contribute to the listeners’ perception of reduced intelligibility in the speech of people with Down syndrome. Full text available at: http://www.down-syndrome.org/reviews/2075/

Number and arithmetic skills in children with Down syndrome

It is clear that arithmetic and number skills are areas of particular difficulty for individuals with Down syndrome. Studies of arithmetic development in typically developing children suggest that a pre-verbal “number sense” system and counting skills provide two critical foundations for the development of arithmetic. Studies of children with Down syndrome suggest that the development of both these foundational skills present difficulties for them, though these conclusions are based on relatively small samples of children. It would seem that further studies of arithmetic and number skills in children with Down syndrome, involving larger samples of children and broader ranges of measures, are badly needed. Full text available at: http://www.down-syndrome.org/reviews/2070/

Social and communicative functioning

It is widely acknowledged that the establishment of positive attachment relationships and communication with primary caregivers is an important outcome of social-emotional development in early childhood. Attachment security and communication abilities are also associated with key developmental achievements later in childhood, and indeed across the life-span. Research conducted with children with Down syndrome suggests that although differences in attention regulation and emotional responsivity may modify the developmental processes in some respects, the general patterns are similar to those in typically-developing children. It is known from research in this latter population that sensitivity and ‘mind-mindedness’ in caregiving are of key importance, as is the development of shared attentional focus. The authors of this Review argue that targeted research to identify the ways in which parents can most effectively support these core functions in the early development of children with Down syndrome should be a priority. Full text available at: http://www.down-syndrome.org/reviews/2073/

Memory and neuropsychology in Down syndrome

This Review, presented at the Down Syndrome Research Directions Symposium 2007, outlines the strengths and weaknesses in both short-term and long-term memory in individuals with 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 a deficit in verbal short-term memory would be expected to negatively affect aspects of language acquisition, particularly vocabulary development. Individuals with Down syndrome also show impaired explicit long-term memory for verbal information, and may also have particular problems in explicit long-term memory for visual-object associations. However, implicit memory appears to be less affected in Down syndrome, and may therefore provide an important basis for intervention approaches. These findings are consistent with the suggestion of dysfunction within the hippocampal system in Down syndrome, and problems in verbal memory may be linked to impaired functioning of pre-frontal brain regions. Full text available at: http://www.down-syndrome.org/reviews/2068/

How relationship focused intervention promotes developmental learning

Relationship focused intervention (RFI) is an early intervention model that encourages parents to engage in highly responsive interactions with their children. The purpose of this Review paper presented at the Down Syndrome Research Directions Symposium 2007 is to address the conceptual underpinnings for RFI. It discusses the process of developmental learning based upon brief observations of three children with Down syndrome playing by themselves. The authors observe that the most salient characteristic of children’s play is the extent to which they practise or repeat the developmental behaviours that characterise their current developmental functioning. Although children’s developmental functioning is assessed by their new and emerging developmental skills, consistent with Piaget’s concept of assimilation, children’s developmental learning appears to be highly dependent upon massive amounts of spontaneous practice of their existing developmental behaviours. In addition the authors review data from descriptive and intervention studies that they recently published which indicate that parental responsive interaction enhances children’s spontaneous activity, and that children’s spontaneous activity is correlated with their rate of development. The authors conclude that RFI enhances children’s development less by teaching the skills and behaviours that characterise higher levels of developmental functioning and more by encouraging children’s assimilative learning which results from their practising and repeating the developmental behaviours they have already learned. Full text available at: http://www.down-syndrome.org/reviews/2067/

Creating support for families of children with Down syndrome with a co-diagnosis: A survey

This Review, presented at the Down Syndrome Research Directions Symposium 2007, summaries whait is known about creating support for families with Down syndrome with co-diagnosis. Little is known about the effects on families of having a child with Down syndrome and an additional diagnosis (co-diagnosis). In fact, little is known about the incidence of specific co-diagnoses or the methods of reaching these diagnoses. However, there is an interest in improving diagnostic tools and support mechanisms for people with Down syndrome who have a co-diagnosis such as autism spectrum disorder, attention deficit disorder (ADD), obsessive-compulsive disorder (OCD), or other behavioural and medical diagnoses. Full text available at: http://www.down-syndrome.org/reviews/2071/

04 July 2008

Literacy skills

Reading is often a strength for young people with Down syndrome, yet not every child with Down syndrome excels at reading, nor are the optimal teaching methods clear. This Review by Maggie Snowling and colleagues at the University of York, UK, looks at a number of the challenges facing research on literacy development for children with Down syndrome. It then examines what research to date suggests about literacy skills, effective interventions and where future research directions lie.

This Review is part of the Research Directions Symposium Series, examining our current understanding of Down syndrome and identifying future directions for research to improve the lives of people with Down syndrome.

Research Directions Symposium Reviews Series

Last autumn, Down Syndrome Education International hosted the first Research Directions Symposium in Portsmouth, UK, in association with the Anna and John J Sie Foundation and with the generous support of the Down Syndrome Foundation of Orange County (USA) and the National Down Syndrome Society (USA).

The Down Syndrome Research Directions Symposium 2007 brought together a multidisciplinary group of leading scientists, active in research into Down syndrome and related issues. The symposium reviewed current understanding of Down syndrome and identified promising future research directions.

Review papers developed from the symposium will be published in forthcoming issues of Down Syndrome Research and Practice and on Down Syndrome Online. Advance Online Publication copies of some of these are now available.

These include reviews by many of the world's leading authorities on the development of people with Down syndrome and covert topics including speech and language, literacy and reading, learning and memory, early intervention and families.

The symposium was also supported by Down Syndrome International, the Down Syndrome Research Foundation (Canada), the European Down Syndrome Association, Down Syndrome Ireland, the Down's Syndrome Association (UK, Creating Solutions (USA), the Association Francaise pour la Recherche sur la Trisomie 21 (France), the University of Portsmouth (UK) and the Education Centre for Children with Down Syndrome (UK).