Improving the reading skills of young people with Duchenne muscular dystrophy in preparation for adulthood

Abstract

Abstract:Duchenne muscular dystrophy (DMD) is a progressive genetic condition that affects both muscle and brain. Children with DMD are at risk of psycho-social difficulties such as poor academic achievement and behavioural and socio-emotional problems. This article by Janet Hoskin and Angela Fawcett, both from the University of Swansea, describes how 34 participants with DMD took part in a 36-week online literacy intervention which was delivered in partnership between home and school. The key objective was to improve reading skill. Participants were re-tested at 36 weeks for single word and text level reading, comprehension, fluency, processing and timed single word reading. Pre and post results indicated that children who followed the intervention for 36 weeks made significant improvement in their single word reading (p = <0.0001), timed single word reading (p = <0.0001) and text level reading (p = <0.004). They also made significant improvement in their fluency and comprehension scores. The results showed that children with DMD and related literacy difficulties benefit from a regular, structured and systematic synthetic phonics programme. With young people with DMD increasingly living into adulthood, early literacy intervention is particularly important to ensure optimum career and training opportunities.Duchenne muscular dystrophy (DMD) is a chronic and progressive muscle wasting individuals, there is an established prognosis for DMD due to the lack of the protein dystrophin being made condition, caused by a fault on the dystrophin gene, one of the largest genes in the human genome (Emery & Muntoni 2003). It is an X-chromosome linked disease and therefore overwhelmingly affects boys, one in 3,600 -6,000 male births (Drousiotou, Ioannou, Georgiou et al. 1998; Emery 1991). Although aspects of the condition can vary between which acts as a stabiliser in the muscle cells. Most children are diagnosed at around the age of five years (Bushby, Hill and Steel 1999) and without any intervention muscle deterioration results in lack of ambulation before they are teenagers with respiratory, cardiac and orthopaedic complications developing as they grow older. Without any treatment, the average age of death is around 19 years (Bushby et al 2010).However, more recently with the use of interventions over the past twenty years such as daily steroids, night ventilation, cardiac monitoring and spinal surgery to address scoliosis, life expectancy has increased to an average of 27 years (Eagle et al 2002;Eagle et al 2007). Since the publication of Eagle's research in 2007, there are now teenagers with DMD who have been using daily steroids from a much earlier age and so it might be expected that with these treatments available, young people with DMD could be living into their third decade and beyond. In Denmark, where those with DMD use steroids and ventilation in an optimal coordinated care programme, there are now more adults than children with the condition, and some are living into their third and fourth decades (Jeppeson ...

El estudio de la distrofia muscular de Duchenne: más allá del ángulo médico | The study of Duchenne muscular dystrophy: beyond the medical angle

“…Y finamente, los contextos también permiten dar cuenta del rol que juegan las personas con discapacidad en la sociedad, ya que en algunas investigaciones se vuelve vital su voz, no sólo para la capacitación y especialización de los profesionales, sino por las implicaciones sociales que conlleva el aumento de la esperanza de vida de las personas con DMD, particularmente en aspectos relacionados con la autonomía y la participación en la planeación del futuro en diversos ámbitos de la vida (Abbot, et al, 2017;Abbot y Carpenter, 2015;Hoskin, 2017;Hoskin y Fawcett, 2014;Kohler et al, 2009;Lindsay et al, 2017), es decir, aspectos relacionados con un modelo social de la discapacidad. • Trabajo social Social Nota 1: el área sombreada indica que las investigaciones abordan temas enfocados en los cuidadores; el área no sombreada indica que son investigaciones enfocadas en niños, adolescentes y adultos jóvenes con DMD.…”