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Spinal muscular atrophy (SMA) is a disease that prevents individuals from maintaining routine actions. It affects children mainly but can start even before birth or in the young adulthood. The disease has genetic nature and is characterized by muscle weakness that worsens with the course of time. It happens because those nerve cells that control voluntary movement are lost due to the genetic deficiency of protein. SMA is classified in relation to the age of individuals who have it into five types (SMA 0 – prenatal onset; SMA IV – adult onset). This paper will discuss SMA I, which is usually diagnosed by the age of 6 months (Hardart & Truog, 2003).
Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) type I, which is also known as Werdnig-Hoffman disease is “an autosomal recessive disorder of childhood that causes profound weakness and death from respiratory failure, typically by the age of 2 years in the absence of mechanical ventilation” (Hardart & Truog, 2003, p. 848). It is basically found due to the fact that the child never turns out to be able to sit. Still, some of them may learn to roll. They can even live without enteral nutrition and respiratory issues for a couple of years. However, such things happen rarely, and these children require special nutrition and treatment of respiratory failure. Before the age of two, they can also require ventilatory assistance. In the most severe cases, it can be needed even before 5 months of age. Basically, they can just partially move their finger and facial muscles (Bach, Vega, Majors, & Friedman, 2003). Expected outcomes for SMA are defined not by its type but by the severity of symptoms that is why it is difficult to presuppose what will happen with one. Still, these children cannot live without special treatment and often die before they are 2 years old when it is not provided.
Signs, Symptoms, and Treatment
Children with SMA may reveal different symptoms depending on the severity of the disease. It is defined by the amount of protein that the nerve cells receive for normal functioning. Still, those who have SMA I tend to reveal noticeable symptoms from the very birth. They are extremely weak and cannot breathe decently. Eating is also a problem for them, as they cannot suck and swallow like their peers. The most critical symptom is their inability to sit without external assistance, but they also have mild joint contractures. As a rule, the disease affects proximal muscles at first and then moves away from the center of the body. Thus, the muscles on the fingers and feet are often much stronger than those on the back. The diaphragm and heart are not affected mainly till the time when SMA I is in the late course.
Considering those issues that children with SMA I have, they require constant support and care. They need mechanical ventilation (at night or on the routine basis) and enteral nutrition with the help of feeding tubes. They require support while moving, especially sitting. Due to the development in treatment options, patients with SMA I can now live longer. Unfortunately, such opportunities are expensive and cost thousands of dollars, which prevents many families from obtaining them, as their insurance fails to cover everything. Thus, basically a child receives treatment when being at home with the involvement of a pediatric palliative care team (Garcia-Salido, Paso-Mora, Monleon-Luque, & Martino-Alba, 2014).
Children with CMA I require constant care and support provided not only by their parents but also by healthcare professionals. Hardart andTruog (2003) state that “16 hours/day of nursing care” are needed to provide a child with invasive mechanical ventilation, which means that family is to spend more than $100 000 a year (p. 849).
Nurses can also educate child’s caregivers regarding the way one should be treated and then develop a schedule of visits needed to ensure that the patient is in a decent condition. They are usually held on the weekly basis (Garcia-Salido et al., 2014). They can also provide help when receiving calls from the family or e-males. Even though children with SMA I are rather weak, and they are not able to act as other infants, professionals and caregivers believe that the effort needed for raising them is not excessive. The thing is that children under the age of 2 always require much attention, assistance, and support. In this way, the care that is needed for a patient with SMA I differs mainly only in the particular nutrition and respiratory needs. As a rule, they are satisfied by the members of the family that is why the main activity that the nurse is to consider is educating them.
As a rule, individuals with SMA I are little children who are not able to take care of themselves at all that it why nurses do not educate them. Instead, they are focused on the parents and other members of the family. Nurses should have a meeting with them, during which they need to explain the most critical issues. The caregivers need to realize the disease process and what causes it. It would be advantageous if they know the classification of SMA not to be misled by the information they found. Nurses should explain the prognosis and give the family members several authoritative sources of information about the disease. They can also pay attention to research studies focused on SMA I. The intervention plan is also required, as it will serve as a guideline for the family. Parents should know where they can receive help if something happens. A genetic test should be made. Peculiarities of pulmonary and nutrition are to be underlined and discussed step by step. Orthopedic and rehabilitation interventions can also be considered.
SMA I had an adverse influence on the child’s overall condition due to the respiratory and nutrition issues that are caused by it initially. One cannot be fed in a natural way, which can be a great problem if the disease is not identified. Lack of nutrition may lead to undernourishment and further complications. Except for that, SMA I limits child’s movement greatly, which prevents musculature development and strengthening. One cannot deal with basic actions and required constant support provided by the family members. Even though children with SMA I already have particular problems with breathing, their condition can worsen with the course of time. Because of the muscles inability to support the body, the diaphragm can be affected, which leads to respiratory complications. Those muscles that are necessary for breathing turn out to become weaker. Issues can deal with spine also. Muscle weakness often leads to scoliosis that affects body image and can even interfere with breathing.
Bach, J. R., Vega, J., Majors, J., & Friedman, A. (2003). Spinal muscular atrophy type 1 quality of life. American Journal of Physical Medicine & Rehabilitation, 82(1), 137–142.
Garcia-Salido, A., Paso-Mora, M., Monleon-Luque, M., & Martino-Alba, R. (2014). Palliative care in children with spinal muscular atrophy type I: What do they need? Palliative and Supportive Care, 13(2), 313-317.
Hardart, M., & Truog, R. (2003). Spinal muscular atrophy–type I. Archives of Disease in Childhood, 88(1), 848-850.