Living with myotonic dystrophy; what can be learned from couples? a qualitative study

Contains fulltext : 96062.pdf (publisher's version ) (Open Access)BACKGROUND: Myotonic dystrophy type 1 (MD1) is one of the most prevalent neuromuscular diseases, yet very little is known about how MD1 affects the lives of couples and how they themselves manage individually and together. To better match health care to their problems, concerns and needs, it is important to understand their perspective of living with this hereditary, systemic disease. METHODS: A qualitative study was carried out with a purposive sample of five middle-aged couples, including three men and two women with MD1 and their partners. Fifteen in-depth interviews with persons with MD1, with their partners and with both of them as a couple took place in the homes of the couples in two cities and three villages in the Netherlands in 2009. Results : People with MD1 associate this progressive, neuromuscular condition with decreasing abilities, describing physical, cognitive and psychosocial barriers to everyday activities and social participation. Partners highlighted the increasing care giving burden, giving directions and using reminders to compensate for the lack of initiative and avoidant behaviour due to MD1. Couples portrayed the dilemmas and frustrations of renegotiating roles and responsibilities; stressing the importance of achieving a balance between individual and shared activities. All participants experienced a lack of understanding from relatives, friends, and society, including health care, leading to withdrawal and isolation. Health care was perceived as fragmentary, with specialists focusing on specific aspects of the disease rather than seeking to understand the implications of the systemic disorder on daily life. CONCLUSIONS: Learning from these couples has resulted in recommendations that challenge the tendency to treat MD1 as a condition with primarily physical impairments. It is vital to listen to couples, to elicit the impact of MD1, as a multisystem disorder that influences every aspect of their life together. Couple management, supporting the self-management skills of both partners is proposed as a way of reducing the mismatch between health services and health needs

Prevalence of dysarthria and dysphagia in neuromuscular diseases and an assessment tool for dysarthria in adults

Contains fulltext : 191605.pdf (publisher's version ) (Open Access)Radboud University, 3 juli 2018Promotores : Geurts, A.C.H., Engelen, B.G.M. van Co-promotores : Swart, B.J.M. de, Kalf, J.G.vii, 138 p

Dysatrieonderzoek; drie nieuwe beoordelingsinstrumenten beschikbaar.

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Validation of a Dutch language screening instrument for 5-year-old preterm infants.

Item does not contain fulltextAIM: The validation of the Dutch Taal Screenings Test (TST), a language-screening test, which is included in a follow-up instrument developed to enable paediatricians to assess 5-y-old preterm infants for their motor, cognitive and speech and language development. METHODS: The speech and language development of 145 5-y-old infants born before 32 wk of gestation and/or with a birth weight of less than 1500 g was assessed by a paediatrician using the TST and by a speech therapist using standardized language tests. RESULTS: All correlations between the instruments were significant. Using the original cut-off point of the TST for abnormal speech and language development (18 points), the paediatrician will only identify 62% of the children who need speech therapy. For this group of children, a cut-off point of 17 is more effective. The positive predictive value of the TST improved from 77% to 82% by using a parent and school questionnaire to evaluate in a more subjective way the speech and language development. CONCLUSION: Using the TST, paediatricians will be able to identify speech or language problems in 5-y-old preterm infants