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Down Syndrome Research and Practice
Advance Online Publication

• The voice of the child with Down syndrome
  J Hooton and A Westaway
  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 Buckinghamshire the chance to express themselves in an alternative way and to chart visually their own judgement of progress. It explores success in enabling a child to be able to contribute in a personally meaningful and accurate way to the annual review process and beyond, using complementary professional expertise.
• Memory and learning � using mouse to model neurobiological and behavioural aspects of Down syndrome and assess pharmacotherapeutics
  Katheleen Gardiner
  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 biochemistry, has dramatically improved over the last few years. Recently, several different drugs have been shown to rescue learning and memory deficits in a major mouse model of Down syndrome. Here, we first review the challenges inherent in using mouse models in Down syndrome research and then describe the successful molecular/genetic interventions that are cause for cautious optimism. We then predict critical molecular abnormalities that can be tested for relevance to learning and memory and that are potential targets of existing pharmacotherapeutics.
• Families of children with Down syndrome: What we know and what we need to know
  Monica Cuskelly, Penny Hauser-Cram and Marcia Van Riper
  This paper provides a brief 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. Some of these issues include the need for: 1) a more balanced perspective � one that acknowledges both positive and negative aspects of the experience, 2) greater attention to the experiences of fathers...
• The developmental approach to the study of Down syndrome: Contemporary issues in historical perspective
  Tara Flanagan, Natalie Russo, Heidi Flores and Jacob Burack
  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...
• The Down syndrome behavioural phenotype: Taking a developmental approach
  Deborah Fidler, David Most and Amy Philofsky
  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 of the phenotype, will advance science and service for this population. Related issues including the distinction between primary and secondary phenotypic features...
• Speech production in people with Down syndrome
  Monica Bray
  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 paper 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.
• Number and arithmetic skills in children with Down syndrome
  Sophie Brigstocke, Charles Hulme and Joanna Nye
  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...
• Social and communicative functioning
  John Oates, Kim Bard and Margaret Harris
  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...
• Pragmatic development
  Leonard Abbeduto
  I review research on the pragmatic, or social, aspects of language development in children, adolescents, and young adults with Down syndrome. Virtually all facets of pragmatic development have been found to be delayed in Down syndrome, but some facets are especially delayed relative to cognitive development. Areas of strength in pragmatics (e.g., narration), however, have also been identified. Strengths and weaknesses in pragmatics relative to other conditions associated with intellectual disabilities (e.g., fragile X syndrome) have been found as well. Next steps for research are briefly outlined.
• Memory and neuropsychology in Down syndrome
  Christopher Jarrold, Lynn Nadel and Stefano Vicari
  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 a deficit in verbal short-term memory would be expected to negatively affect aspects of language acquisition, particularly vocabulary development...
• How relationship focused intervention promotes developmental learning
  Gerald Mahoney and Frida Perales
  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 paper is to address the conceptual underpinnings for RFI. We discuss the process of developmental learning based upon brief observations of three children with Down syndrome playing by themselves. We observe that the most salient characteristic of children's play is the extent to which they practise or repeat the developmental behaviours...
• Creating support for families of children with Down syndrome with a co-diagnosis: A survey
  Joan Medlen
  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.
• The development of literacy skills in children with Down syndrome: Implications for intervention
  Margaret Snowling, Hannah Nash and Lisa Henderson
  The cognitive profile observed in Down syndrome is typically uneven with stronger visual than verbal skills, receptive vocabulary stronger than expressive language and grammatical skills, and often strengths in reading abilities. However, there is considerable variation across the population of children with Down syndrome. We begin by outlining some of the methodological issues that surround research on literacy development in Down syndrome before surveying what is known about literacy and literacy-related skills...