| 1. |
- Beernaert, Kim, et al.
(författare)
-
Parents' Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy : A Population Survey
- 2019
-
Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 34:4, s. 210-215
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE:: This study aims to assess the experiences and wishes of parents of children with severe spinal muscular atrophy regarding information and decision-making throughout the course of the illness.STUDY DESIGN:: A full population survey, conducted in 2015, among parents of children with severe spinal muscular atrophy who were born in Denmark between January 1, 2003, and December 31, 2013. We used a study-specific questionnaire with items about experiences and wishes concerning the provision of information about diagnosis, treatment, and end-of-life care.RESULTS:: Among the 47 parents that were identified, 34 parents of 21 children participated. Eleven of them were nonbereaved and 23 were bereaved parents. All parents stated that health care staff did not take any decisions without informing them. A proportion of parents indicated that they were not informed about what spinal muscular atrophy entails (32%), possible treatment options (18%), or the fact that their child would have a short life (26%) or that death was imminent (57%). Most of the bereaved parents who had wishes concerning how and where their child would pass away had their wishes fulfilled.CONCLUSIONS:: The study showed that health care staff did not take treatment decisions without parents being informed. However, there is room for improvement concerning information about what spinal muscular atrophy entails, treatment options, and prognosis. Possibilities of palliative care and advance care planning should be investigated for these parents, their child, and health care staff.
|
|
| 2. |
- Bladen, Catherine L., et al.
(författare)
-
The TREAT-NMD Duchenne Muscular Dystrophy Registries : Conception, Design, and Utilization by Industry and Academia
- 2013
-
Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 34:11, s. 1449-1457
-
Tidskriftsartikel (refereegranskat)abstract
- Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence<5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD. For the DMD registries within TREAT-NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT-NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.
|
|
| 3. |
- Hjorth, Elin, et al.
(författare)
-
Bereaved Parents More Satisfied With the Care Given to Their Child With Severe Spinal Muscular Atrophy Than Nonbereaved
- 2019
-
Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 34:2, s. 104-112
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND AIMS:: Children with severe spinal muscular atrophy have complex care needs due to progressive muscle weakness, eventually leading to respiratory failure. To design a care system adapted to families' needs, more knowledge about parents' experience of care and its coordination between settings is required. This study explores (1) whether parents felt that health professionals took every opportunity to help the child feel as good as possible, (2) parents' satisfaction with various care settings, and (3) parents' satisfaction with coordination between settings.METHODS:: Data derive from nationwide Swedish and Danish surveys of bereaved and nonbereaved parents of children with severe spinal muscular atrophy born between 2000 and 2010 in Sweden and 2003 and 2013 in Denmark (N = 95, response rate = 84%). Descriptive statistics and content analysis were used.RESULTS:: Although most of the parents reported that care professionals had taken every opportunity to help the child feel as good as possible, one-third reported the opposite. Bereaved parents were significantly more satisfied with care than nonbereaved (81% vs 29%). The children received care at many different locations, for all of which parents rated high satisfaction. However, some were dissatisfied with care coordination, describing lack of knowledge and communication among staff, and how they as parents had to take the initiative in care management.CONCLUSIONS:: This study highlights the importance of improving disease-specific competence, communication and knowledge exchange among staff. For optimal care for these children and families, parents should be included in dialogues on care and staff should be more proactive and take care management initiatives.
|
|
| 4. |
- Hjorth, Elin, et al.
(författare)
-
Parents’ advice to other parents of children with spinal muscular atrophy : Two nationwide follow-ups
- 2022
-
Ingår i: Journal of Child Health Care. - : SAGE Publications. - 1367-4935 .- 1741-2889. ; 26:3, s. 407-421
-
Tidskriftsartikel (refereegranskat)abstract
- Being a parent of a child with spinal muscular atrophy (SMA), a disease that causes progressive muscle weakness, involves a range of challenges. The purpose of this study was to explore what advice parents of children with severe SMA, in absence of effective therapies, would like to give to other parents. The study derives from two nationwide parental surveys in Sweden and Denmark where content analysis was used to analyse one open-ended question about parents’ advice to other parents. Of eligible parents, n=113, (parents of children diagnosed with SMA type 1 or 2, for whom respiratory support was considered during first year of life), 95 participated in the study (response-rate: 84%), and 81 gave written advice. The advice covered coping with everyday life with the ill child, involvement in care of the child, and existential issues of living with and losing a child with SMA. Parents highlighted leading normal lives insofar as possible, e.g., by trying to see the healthy aspects in the child, not only focusing on care and treatment. The advice can be related to resilience strategies for parents with a child with severe SMA which can help healthcare professionals and others to support parents in similar situations.
|
|
