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Needs and Experience of Families with Child Suffering from Spinal Muscular Atrophy - Current Situation and Challenges for Social and Health Care System in Czech Republic
Schagererová, Iveta ; Štegmannová, Ingrid (advisor) ; Tichá, Růžena (referee)
Situation of families in which a child with spinal muscular atrophy was born, is the topic of this thesis. This rare genetic disease affects neuromuscular system of children and shortens their lives. In most severe cases the failure of respiratory functions comes in the first year of child's life. This thesis is focused on support that Czech system of social and medical services provides to families with this disease. Next, it looks into needs of these families and examine the extent to which the system is able to saturate them. Very important point in this research is also families' perception of quality of care. The research was implemented with use of qualitative methods, mostly by semi-structured interviews which followed families' journey through the system of social and medical services. Then there is a comparison of experience of families with theories, policy and other normative framework and suggestion of steps that should be taken to improve families' satisfaction with services they receive concerning the child's disease. Key words: spinal muscular atrophy, rare diseases, patient's autonomy, patient- centered care, patient journey, quality of care.
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Case report of physiotherapeutic care of patient with spinal muscular atrophy.
Saifrová, Tereza ; Brabencová, Hana (advisor) ; Hájková, Marie (referee)
Title: Case report of physiotherapeutic care of patient with spinal muscular atrophy. Summary: This thesis is devoted to the topic of spinal muscular atrophy, with the code of diagnosis G12.1. The general part summarizes the information and knowledge about this disease which I have drawn primarily from foreign literary sources with the earliest year of publication 1995. I focus on etiology of particular disease, clinical features of affected patients, the complications which are connected with this disease and treatment options. The second, special part of this project comprises a case report of physiotherapeutic care of patient with spinal muscular atrophy. Case report was created during month-long Bachelor's practice at the Centre of treatment of musculoskeletal system in Prague, Vysočany and lasted from 21. 1. to 15. 2. 2013. Key words: Spinal muscular atrophy, neuromuscular disorders, SMN gene, case report, physiotherapy
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Respiratory physiotherapy affects the quality of life of children with spinal muscular atrophy - How, when and why?
Havlištová, Michaela ; Smolíková, Libuše (advisor) ; Zounková, Irena (referee)
Bibliographic identification HAVLIŠTOVÁ, Michaela. Respiratory physiotherapy affects the quality of life of children with SMA - how, when and why? Prague: Charles University, 2nd Faculty of Medicine, Department of rehabilitation and sport medicine, 2012. 81 p. Supervisor Doc. PaedDr. Libuše Smolíková, Ph. D. Annotation This thesis deals with the influence respiratory function in children with spinal muscular atrophy (SMA). The theoretical part provides an overview of respiratory physiotherapy techniques that can be used in the care of the airways in people with SMA. The practical part deals with the question whether it is possible using the selected techniques of respiratory physiotherapy after six weeks of training to affect ventilatory parameters in children with SMA. The group of six probands with SMA I. - III. type in the range of the age from 3.5 to 12 years participated in this study. To objectively assess changes was performed spirometry efore the beginning of the therapy and after its conclusion. The main therapy was daily training with inspiratory breath simulator CliniFlo. After the finishing of therapy there was a positive change in all measured parameters except for vital capacity (VC) and maximal expiratory flow at 75% of FVC (MEF75), where the values didn't change. Statistically significant...
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Selected methods of therapeutic rehabilitation in spinal muscular atrophy
Nosková, Petra ; Ježková, Martina (advisor) ; Zounková, Irena (referee)
The bachelor's thesis "Selected methods of therapeutic rehabilitation in spinal muscular atrophy - a research paper" deals with the issue of a progressive neurodegenerative disorder in spinal muscular atrophy (SMA) with the focus on therapeutic rehabilitation. Due to the lack of causal treatment in the present time, therapeutic rehabilitation holds a crucial position. The main part of the thesis consists of a brief overview of the existing knowledge of the SMA disorder, the principles of prevention and therapy of the most frequent musculoskeletal difficulties of patients, as well as an overview of selected methods of therapeutic rehabilitation, appropriate in this disorder. The most frequent musculoskeletal difficulties of the SMA patients include: development of scoliosis, contractures and luxation of hip joint. In the overview of methods and concepts appropriate in patients with SMA, selected methods and concepts based predominantly on neurophysiologic principle and options for respiratory rehabilitation were listed. The thesis is supplemented with the casuistry of a patient with the third type of SMA.
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The aim of non - state non - profit organisations in taking care of families of children with spinal muscular atrophy
ROUBÍKOVÁ, Kateřina
This bachelor's thesis is called "The role of nongovernmental organisations in helping families looking after children suffering from spinal muscular atrophy." The theoretical part is divided into 5 main chapters. The first chapter defines basic terms: spinal muscular atrophy, classification, diagnosis and basic care of people suffering from spinal muscular atrophy. The second part deals with possible therapies. Particularly about rehabilitation and spa treatment, conservative and operative therapy, alternative treatment and medication, compensatory aids, mainly wheel chairs. This chapter also mentions respiratory, orthotic and physiotherapeutic care. Regarding physiotherapeutic care there are descriptions of: using a ball for massage, ergotherapy, basal stimulation, hydrotherapy and pool, hypotherapy. In the conclusion of this chapter there is a description of the project REaDY (REgistry of muscular DYstrophy). The third chapter is named "The family of a child suffering from spinal muscular atrophy." It seemed important to mention stages of grief parents are going through after their handicapped child was born. The stages were described by a famous Swiss thanatology expert Elizabeth Kübler-Ross. There are recommendations for parents and people taking care of handicapped child at the end of the third chapter. The fourth chapter addresses the upbringing and education of children with spinal muscular atrophy. The intellect of these children is not affected so they can be integrated into nursery, primary and secondary schools attended by unhandicapped children. The last chapter deals with nongovernmental organisations having great social benefit for handicapped people. The practical part of this work has two main goals: to find out what services are offered by nongovernmental organisations to the families of children with spinal muscular atrophy and how are these families satisfied with offered services. The qualitative type of research was used for achieving these goals: the technique of semi-structured interviews. The target set of the research part consisted of workers of nongovernmental organisations specialised in spinal muscular atrophy and the parents of children suffering from it. The interviews were focused on gaining the list of services provided by nongovernmental organisations regarding the caring families. Seven families were asked for participation in this research. Five families agreed to be involved in the interview. The list of provided services makes another part of the research. Therefore a social worker from Arpida (rehabilitation centre for handicapped people) and a special consultant from Kolping Family Smečno were addressed. It was found out that organisations mentioned above provide short-term stays, rehabilitations, ergotherapy, swimming pool, hypotherapy, compensatory aids and consulting. Parents are particularly interested in short-term stays, they can have a rest and an assistant takes care of their child. This service is of utmost importance for parents. It brings both a physical and a psychological relief. Intellect is not affected in children and it is not easy to invent new activities. At the same time the contact with another person is invaluable. There is also a great demand for rehabilitation, which is beneficial and unsubstitutable. Parents say that consulting is also important. The consulting is usually needed for purchases of compensatory aids or integration of children into schools. Almost all parents agreed to be fully satisfied with provided services. One of the respondents would be more satisfied if the short-term stays took place more frequently, not only during the summer. Concerning financial issue the basic income comes from social services The results of this work can be used to get an overview of services provided by nongovernmental organisations and to find out how satisfied those users of the services are.
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Specifics of nursing care for patients with spinal muscular atrophy
HRBKOVÁ, Lenka
This thesis is focused on defining the specifics of nursing care for patients with disease spinal muscular atrophy. SMA is classified as an incurable genetic disease that causes progressive muscle atrophy and deformity of the body but sensory perception and intellect remain preserved. The incidence of the disease in the neonatal and childhood prevails, however the outbreak of the disease in adulthood is not any exception. Suitable nursing care is of great importance in maintaining the health of the patients for the longest possible time and delaying the onset of worsening health. The thesis is divided into theoretical and empirical part. The theoretical part deals with SMA disease, incidence, classification, treatment options and nursing care. In connection with the theme of this thesis, we choosed three targets. 1.: Map out the specifics of nursing care of pediatric patients with spinal muscular atrophy from the perspective of nurses. 2.: Map out the specifics of nursing care of adult patients with spinal muscular atrophy from the perspective of nurses. 3.: Comparison of the specifics of nursing care of pediatric and adult patients with spinal muscular atrophy. We used qualitative research method using a semi-structured interview to achieve our goals. To assess quality goals, we used the following research questions: How nurses specify the nursing care provided to a pediatric patient with spinal muscular atrophy? How nurses specify the nursing care provided to an adult patient with spinal muscular atrophy? With which needs of patients suffering with spinal muscular atrophy have the most experienced nurses experience? The research group consisted of six respondents, three of which respondents had experience with care of pediatric patients and the other three with care of adult patiens. As a processing technique we used open coding, through pencil and paper. The information obtained was divided into categories. The research shows that for nurses caring for pediatric patients the age is important at first occurrence of the disease as that influences the possibility of communication. Prevails ensure physiological needs. For nursing care, throughput of the tracheostomy cannula and status check of the oral cavity is important. In terms of nutrition the nurses prefer serving food through the PEG. They also agreed on the need for positioning. Emptying urine is ensured by the PMK or urinating in diapers. The nurses agreed on serving laxatives and manual defecation. The survey of nurses caring for adult patiens explains that the most common barrier is a state of consciousness, mental status and impaired verbal and nonverbal communication. For the needs of the nurses they state the physiological needs, as well as the fulfillment of psychological needs. In the nursing care of respiratory ways nurses report caring for tracheostomy cannula and a suctioning. In the case of nutrition they prefer per os (orally) and after that they use the help of NGS or NJS. The most common way of serving the diet they indicate the PEG. In case of immobility of the patient they all agree on positioning. For emptying urine they use PMK, one also mentioned epicystostomy. For defecation they agree on serving of laxatives, enemas and manual defecation. The results of our survey highlight the differences in nursing care provided to children and adults. The most relevant in the category of barriers in communication, is the age of the children and adults state of consciousness, the willingness and the ability to communicate. Adult patients desire to fulfill even higher requirements,while with children it is about fulfilling the physiological and social needs. In the nursing care, significant differences are not found. The results obtained in the practical part, I would like to use the knowledge to broaden awareness of nurses who have experience in caring for patients with SMA and to better inform the general public about this rare and often fata
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Problems of nursing care for a child with spinal muscular atrophy
BUBALOVÁ, Petra
Spinal muscular atrophy (SMA) is a hereditary disease characterized by progressive loss of -motoneurons of the spinal front corners, the consequence of which atrofizaci of muscles occurs. As a result, children become disabled and infirm dependent on the help and care of others at an early age. This is a relatively rare disease, the prevalence is about 1: 6,000 children. Spinal muscular atrophy is divided into 4 types according to its severity and time of onset of symptoms. Despite significant longtime research, it has failed to find a drug that could cure this disease so far. To the present date, there are only methods that slow the progression. The survey also contained 4 research questions, namely: What are the principles of treating a child with spinal muscular atrophy ? What are the most common problems in the care of a child with spinal muscular atrophy ? Are parents adequately educated on the issue of child with spinal muscular atrophy ? What impact has the presence of a child with spinal muscular atrophy in his family? Qualitative research was used in the implementation of the empirical part . Two qualitative methods were used to collect the data, a semi-structured interview and a hidden observation of the participant . Interviews were conducted with 3 research files, with 11 general nurses from the České Budejovice Hospital and University Hospital Motol, 7 mothers of children with I and II. type SMA of a summer camp for children with SMA and with 5 personal assistants. This thesis should help nurses and the public to gain awareness of the disease of Spinal Muscular Atrophy. It refers to all aspects of care of such a sick child, with which their parents daily struggle. Caring for a child with SMA is very difficult for their caregivers and requires considerable restrictions for the whole family. Information observed during the research were presented at a seminar for nurses in the České Budejovice Hospital in January 2015.
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The quality of life of children suffering with spinal muscular atrophy
KOČOVÁ, Helena
The scope of this dissertation focuses on issues related to the quality of life of children suffering with spinal muscular atrophy (SMA) and their carers and the associated social impact on families affected by this progressive and incurable disease. It describes ethical aspects of help to families with SMA and serious decisions in relation to the need to connect to artificial ventilation. Spinal Muscular Atrophy - SMA is a motoneuron disease i.e. disease of neurons, which are responsible for conscious movements of muscles e.g. running, head movement and swallowing. The prevalence is approximately 1 newborn for 6000 live births and approximately 1 person of 40 people is the carrier of the disease. SMA affects all the bone muscles i.e. proximal muscles are often affected the most. Everyone affected is in some point in life, depending on stage and type, reliant on mechanical or electrical wheelchair, in many cases also on artificial ventilation and permanent 24hr care. Families affected by this illness accept the fact of this progressive and incurable illness differently, this dissertation reflects upon such different perceptions on quality of life of the affected children, the carers. It forms a contribution in building a foundation for organising multi-discipline teams of experts with sole purpose of therapeutical interventions, to support the child and his/hers family. The World Health Organization (WHO) defines palliative care as "improving quality of life of patients facing life-threatening illnesses, and their families, through the prevention and relief of suffering by early identification and treatment of pain and other problems, whether physical, psychological, social or spiritual." Palliative care prepares families for these situations and should be provided along with whatever treatment options families choose. This dissertation is a comprehensive information base to support children affected by SMA and their families in early care in Czech Republic and in the process of inclusive educational integration into mainstream society.
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Physiotherapy for patients with Spinal Muscular Atrophy - therapeutic use methods and assistive devices to delay neuromuscular spinal deformities
KUBIČKOVÁ, Karolína
In my bachelor work I look into the problems of the spinal muscular atrophy, assess both the effect of physiotherapy performed and utilization of compensation aids to control the progression of the disease. SMA presents an autosomal recessive genetic progressive disease of neuromuscular system, in the course of which muscular hypotonia, even atrophy develops. This process origins in a gradual deterioration of motoneutrons of frontal spinal corners. SMA ranks among rare hereditory diseases when both parents of the affected patient are bearers of a defective gen, although the illness doesn´t manifest in them themselves. The illness, in its medium and more advanced forms, starts usually its occurence in an early childhood. The rapidity of SMA progression differs in every individual. The patiens who suffer from this illness are mostly dependent on a wheelchair and their lifetime is substantially limited. Neither pathogenesis, nor treatment are currently known.One of major problems, which are brought by the illness, is the start of a backbone neuromuscular deformities which gradually deteriorates. A progressing scoliosis is often so significant that a surgical treatment becomes inevitable because compression of internal organs reaches such a condition that a conservative treatment is not sufficient any more. The patiens often complains of a back and hip painfulness. Viewed by physiotherapy, it seems inevitable to select a correct, individual therapy for every affected person and to recommend them suitable compensation aids. In particular, the choice of a wheelchair must be done with a proper care. Especially the quality of the sitting part and the part catering for a sufficient stability of the body, present the most important items to check while selecting a wheelchair. The importance of a proper wheelchair results from the fact that the SMA patiens spend in it most of their lifetime and that´s why the comfort of usage and the limitation of both backbone deformities and pelvis obliquities appears so important.In the theoretical part of my work I focused on the definition of SMA disease. I stated the classification of SMA and the therapy options. Next, I mentioned the physiotherapy methods, which are most often employed in therapy and compensation aids, which are inevitable for the SMA patiens and present a slowdown of the disease progression. A high quality and suitably selected compensation aid participates in a partial deceleration of occurence or progression of neuromuscular deformation of the backbone.This bachelor thesis aims at monitoring of physiothrapy application chances in SMA. It examines if the illness can be partially affected by employing physiotherapeutical methods. In addition, it deals with the availability and effectivity of compensation aids.
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