Down's syndrome, research and practice : the journal of the Sarah Duffen Centre最新文献

The present study examined continuous and discrete bimanual drumming in response to different instructions in 10 adults with Down syndrome, 10 mental age-matched and 10 chronological age-matched groups. For continuous drumming, participants hit two drums with both hands at the same time following verbal (e.g., "up" and "down"), visual (e.g., video of both drumsticks moving up and down together) and auditory (e.g., sound of both drums being hit, then symbol being hit) instructions for 10 s. For discrete drumming participants hit two drums with both hands at the same time once in response to the instructions described above. In general, for all groups spatial measures showed a performance advantage when using the visual metronome in continuous tasks but no advantage with any instructions for discrete tasks.

In this article we discuss the results of a motor intervention study that we conducted with young children with Down syndrome and other disabilities (Mahoney, Robinson & Fewell, 2001). Results from this study indicated that neither of the two major treatment models that are commonly used with young children with motor impairments was effective at enhancing children's rate of motor development or quality of movement. These findings add to an increasing body of literature indicating that early motor intervention procedures are not adequately meeting the goals envisioned for this endeavour. We argue that there are at least two interrelated reasons why this may be occurring. The first is that parents, who are the people with the greatest opportunities to promote children's motor learning, are not being asked to become active participants in their children's motor intervention. The second is that contemporary models of motor intervention have been focusing on motor learning activities that are incompatible with contemporary theories and research on early motor learning.

The risk of having a pregnancy with Down syndrome increases with maternal age. The percentage of all births in England and Wales to mothers aged 35 and over increased from 9% in 1989 to 19% in 2003. A 51% increase in the numbers of pregnancies with Down syndrome has been observed over the same time period (from 954 to 1440). Due to improvements in antenatal screening for Down syndrome and the subsequent termination of affected pregnancies, the total number of births with Down syndrome decreased from 770 in 1989 to 609 in 2003. However the number of births with Down syndrome to women aged 35 and over increased from 186 in 1989 to 310 in 2003 because of the increasing number of pregnancies amongst these women.

Early intervention approaches for facilitating motor development in infants and children with Down syndrome have traditionally emphasised the acquisition of motor milestones. As increasing evidence suggests that motor milestones have limited predictive power for long-term motor outcomes, researchers have shifted their focus to understanding the underlying perceptual-motor competencies that influence motor behaviour in Down syndrome. This paper outlines a series of studies designed to evaluate the nature and extent of perceptual-motor impairments present in children with Down syndrome. 12 children with Down syndrome between the ages of 8-15 years with adaptive ages between 3-7 years (mean age = 5.6 years +/- 1.45 years) and a group of 12 typically developing children between the ages of 4-8 years (mean age = 5.4 +/- 1.31 years) were tested on their ability to make increasingly complex perceptual discriminations of motor behaviours. The results indicate that children with Down syndrome are able to make basic perceptual discriminations but show impairments in the perception of complex visual motion cues. The implications of these results for early intervention are discussed.

For decades, researchers and practitioners have attempted to find evidence for a personality stereotype in individuals with Down syndrome that includes a pleasant, affectionate, and passive behaviour style. However, a more nuanced exploration of personality-motivation in Down syndrome reveals complexity beyond this pleasant stereotype, including reports of a less persistent motivational orientation and an over-reliance on social behaviours during cognitively-challenging tasks. It is hypothesised that the personality-motivation profile observed in individuals with Down syndrome emerges as a result of the cross-domain relations between more primary (cognitive, social-emotional) aspects of the Down syndrome behavioural phenotype. Young children with Down syndrome show a general profile of delays in the development of instrumental thinking coupled with emerging relative strengths in social-emotional functioning. If it is true that a less persistent motivational orientation emerges as a secondary phenotypic result of more primary strengths in social functioning and deficits in instrumental (means-end) thinking, it may be possible to alter the developmental trajectory of this personality-motivation profile with targeted and time-sensitive intervention. Implications for intervention planning are discussed.

In Calgary, Alberta, Canada, cooperation between families, agencies and health care providers has resulted in services that improve the health and quality of life for individuals with Down syndrome. One of these is the multidisciplinary Down syndrome team at the Alberta Children's Hospital, which provides assessment, treatment and support based on established the Down Syndrome Medical Guidelines (Cohen, 1999) to children with Down syndrome. Originally established to provide services to children from birth to six years of age, the clinic now sees children until the age of 18 years. This change in clinic mandate has enriched and changed the practice of the team. They have an increased awareness of how issues develop over time and impact the child's functioning and quality of life and have developed approaches to prevent and minimise these challenges. This article describes the Down syndrome team's evolution and the benefits of a multidisciplinary/coordinated approach for individuals with Down syndrome.

Many children with Down syndrome have difficulty with speech intelligibility. The present study used a parent survey to learn more about a specific factor that affects speech intelligibility, i.e. childhood verbal apraxia. One of the factors that affects speech intelligibility for children with Down syndrome is difficulty with voluntarily programming, combining, organising, and sequencing the movements necessary for speech. Historically, this difficulty, childhood verbal apraxia, has not been identified or treated in children with Down syndrome but recent research has documented that symptoms of childhood verbal apraxia can be found in children with Down syndrome. The survey examined whether and to what extent childhood verbal apraxia is currently being identified and treated in children with Down syndrome. The survey then asked parents to identify certain speech characteristics that occur always, frequently, sometimes or never in their child's everyday speech. There were 1620 surveys received. Survey results indicated that approximately 15% of the parents responding to the survey had been told that their child has childhood verbal apraxia. Examination of the everyday speech characteristics identified by the parents indicated that many more children are showing clinical symptoms of childhood verbal apraxia although they have not been given that diagnosis. The most common characteristics displayed by the subjects included decreased intelligibility with increased length of utterance, inconsistency of speech errors, difficulty sequencing oral movements and sounds, and a pattern of receptive language superior to expressive language. The survey also examined the impact of childhood verbal apraxia on speech intelligibility. Results indicated that children with Down syndrome who have clinical symptoms of childhood verbal apraxia have more difficulty with speech intelligibility, i.e. there was a significant correlation between childhood verbal apraxia and parental intelligibility ratings. Children with apraxia often do not begin to speak until after age 5. There was a significant correlation between speech intelligibility and age at which the child began to speak, i.e. children who began to speak after age 5 had lower parental intelligibility ratings. A diagnosis of difficulty with oral motor skills is more frequently given than a diagnosis of apraxia; 60.2% of parents had been given this diagnosis. According to survey results, it is rare (2%) for a diagnosis of childhood verbal apraxia to be made without a diagnosis of difficulty with oral motor skills.

In this paper, we utilise an approach drawn from the field of epidemiology to explore what is known and unknown about young children with Down syndrome and their families. After describing what we mean by an epidemiological approach, we review basic findings for children with intellectual disabilities, as well as challenges to performing such research. In considering the epidemiology of Down syndrome, we note that most studies to date have focused on prevalence, mortality-life expectancy, and rates of diseases and syndrome-related health-physical problems, while neglecting many other important issues. In considering potential advances in the epidemiology of Down syndrome, then, we first overview the process of linking two or more separate administrative records, before reviewing several of our own recent studies. We end this paper by discussing four challenges to future epidemiological studies of children with Down syndrome and their families.

This exploratory survey was conducted to gain a detailed understanding of the home and community literacy experiences of children, adolescents and adults with Down syndrome. The data were collected from 224 parents/guardians across Canada who were asked to indicate literacy goals and priorities for their children with Down syndrome, the literacy resources they and their children utilised at home and in the community, perceived barriers to their children's literacy attainment, and solutions for alleviating the barriers. The results were analysed according to age when appropriate, in order to better understand the course of literacy development. Overall, the number of respondents who indicated their children with Down syndrome could read and write appeared to be consistent with previously published estimates, including the number reporting advanced reading levels. The wide range of reading and writing materials observed in use at home appeared to be greater than the range of materials actually used by children with Down syndrome. Relatively few of the parents who read storybooks to their children reported asking higher-level questions, suggesting that some parents might benefit from support in this activity. Many respondents reported using the library, and many expressed concerns about the quality and scarcity of literacy programs. The results are discussed with regard to their implications for how parents, caregivers, teachers, and program providers can encourage literacy development in persons with Down syndrome, and suggestions for future research.

In this case series we report four cases of patients with Down syndrome with symptoms consistent with obsessive compulsive disorder. Each patient experienced substantial reduction in compulsive behaviors with pharmacotherapy of an SSRI alone or with the addition of risperidone to SSRI therapy. None of the patients experienced significant side effects. This small case series supports the use of these medications in the treatment of co-morbid obsessive compulsive disorder in patients with Down syndrome.