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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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