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Down Syndrome Research and Practice
Advance Online Publication

  • Reading interventions for children with Down syndrome
    K Burgoyne
    Though many individuals with Down syndrome are now able to achieve useful levels of literacy skills, it is still not clear how best to support the development of reading skills with this group.  Research with typically developing children has identified successful methods of teaching reading, and recent work has begun to evaluate these methods for individuals with Down syndrome. The aim of this paper is to review this work, and to highlight areas in need of further research.
  • Production and perception of word stress in children and adolescents with Down syndrome
    M Pettinato and Jo Verhoeven
    This article reviews the importance of word stress for typical language acquisition and presents evidence that in certain developmental language disorders, processing of word stress is disrupted. Two novel experiments were carried out testing the production and perception of word stress in a group of 16 children and adolescents with Down syndrome (ages 11-20) matched on receptive vocabulary level to 12 typically developing children (ages 4.06-7). The results indicated processing difficulties in both the production and perception of more difficult and later acquired stress patterns as well as weak initial syllables at the beginnings of words. The impact of these difficulties on language acquisition processes is discussed and future avenues for research are sketched.
  • Autoimmune hepatitis in Down syndrome
    KK Nguyen, S Duong, F Lazare, M Triantafyllopoulou, I Leibowitz, JD Butzner, R Nagpal and WR Treem  
    We sought to determine the clinical features of autoimmune hepatitis in children with Down syndrome.  After an inquiry on the PEDS GI Board, a questionnaire was sent to interested colleagues. Seven patients with autoimmune hepatitis and Down syndrome were reported. The median age at diagnosis was 10 yrs, range 3-15 yrs.  All seven were ANA+ and SMA+; none were anti-LKM1+.  Initially, three were treated with corticosteroids alone, three with corticosteroids and azathioprine (AZA), and one with cyclosporine alone. Three are currently on AZA alone; two remain on corticosteroids. No patients underwent liver transplant. There were two deaths.  We concluded that autoimmune hepatitis is another autoimmune disease to consider in the evaluation of children with Down syndrome.
  • Exceptional writing in a young adult with Down syndrome
    SA Markey and P-S Hoh  
    Until recently, there have been few studies of language development in the Down syndrome population.  Within the past fifteen years, studies have been done concerning the writing abilities of people with Down syndrome.  None of these studies, however, have focused on a high functioning person with Down syndrome.  This study demonstrates the ability of someone with Down syndrome to make incredible language achievements.  I used my sister, Rose, as the subject of my study.  Rose was born five years before me; at birth she was diagnosed with Down syndrome.  I analysed 62 of Rose’s journal entries, dating from 1998 to 2005.  From these journals, I was able to see the language accomplishments that she has made.  These include metalinguistic awareness, correct sentence structure, correct use of parallelism, correct use of temporal phrases, correct use of conditional phrases, and an interesting narrative structure and writing persona. Rose has achieved incredible language accomplishments.  This is due in part to the early intervention programme she completed, as well as her home atmosphere.  There, she was given intensive treatment, and she was treated as a capable person, not a disabled individual.
  • 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...

Reading and Language Intervention for Children with Down Syndrome (RLI)

DSE's Reading and Language Intervention for Children with Down Syndrome (RLI) is an evidence-based programme designed to teach reading and language skills to children with Down syndrome.

RLI incorporates best practice in structured activities delivered in fast-paced daily teaching sessions. It was evaluated in a randomised controlled trial and found to improve rates of progress compared to ordinary teaching.

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