Case Summary of Patient

A 6-month-old male baby is taken to the hospital when his mother notices hypotonia, retractions, and respiratory issues. Prior to admission, the potential of choking from feeds was mentioned. He was the firstborn in his family and had no family history of neuromuscular disorders. The infant was born via normal vaginal birth at 41 weeks gestation, weighing 3.8kgs and with an Agar Score of 8, 9, and 10. The baby was born with neonatal respiratory distress and neonatal distress. The infant required mechanical ventilation due to respiratory distress. During the pregnant time, the mother had a history of psychiatric illness and anemia. On admission at 6months, the baby suffered severe respiratory distress with muscle weakness. At the emergency department, the patient was put on a respiratory support and the initial work started. Blood work ups revealed metabolic acidosis, low oxygen saturation and reduced bicarbonate levels. The CK levels were normal. The head CT scan was normal with no abnormalities noted. A frontal Chest X-ray revealed an enteric tube with the side port terminating on the distal esophagus. There were bilateral perihilar opacities in both lungs and moderate gaseous distention of the stomach.

The mother reported that the child had completed a total of 2 and 4 month appointment with the immunization with no available document for confirmation. There were previous visits to pediatrician who refer them to a neurologist, however with a no conclusive diagnosis as reported by the mother. Further, the baby was referred to an occupational therapist but due to financial constraints, she could not afford. From the history given by the mother, it was required for the initial neurosurgeon that had seen the baby to be consulted.

Management

Management of patients with multiple health care problems using the health care system can be challenging thus requiring the use of case management. The primary goal of case management is to work closely with the members to coordinate health care services and resources for the purpose of ensuring patients achieve the best health care outcomes. The Nurse manager often works closely with the care givers who are qualified for the services by helping them through: coordination of care between health care providers, assisting them in the identification of personal health needs, explanation of the health benefits, provision of reduction on their health care status as well as finding support groups or programs which are important in the recovery of the patients. Thus, the manager works with the families, members, providers for the purpose of making arrangement on the most appropriate, effective and cost efficient treatment possible. Discussed below is a case/disease management program for a 7 months old male infant with hypotonic and respiratory distress secondary to spinal Muscular Atrophy Type I (SMA).

At present, there is no effective disease modifying treatment for SMA, however, with proper and effective supportive, rehabilitative and palliative care, there can be the partial reduction of the disease burden as well as the cost. The primary aim of the treatment is to address the primary and the secondary effects of the muscle weakness including the management of the pulmonary complications, nutritional and gastrointestinal care, orthopedic, rehabilitative interventions as well as the end of life care. The management of a patient with SMA requires the collaboration of a multidisciplinary team. Upon discharge, it is important for the patients with SMA to be followed up so as to ensure the achievement of the best possible health outcomes.

Pulmonary care

Research indicates that, pulmonary related complications are the major causes of morbidity and mortality among patients with SMA (Bodensteiner, 2014). Patients with the condition often experience a weak cough with poor clearance of secretions as well as reduced ventilation. Therefore, there are the increased chances of experiencing difficulties in breathing in relation to the clearance of the airway. In this case, there is the need for informing the patients and their immediate care givers of the role of non invasive ventilation as well as be educated on the course of illness and the expected complications.

During the discharge of the patient from the hospital, the caregiver is educated on the importance of avoiding the cases of aspiration and also on how to manage secretions (Toussaint,et al., 2017)In addition, they are also educated on general preventive measures such as the routine immunizations against Influenza, pneumococcal and the Syncytial virus. For airway clearance, the care givers are educated on the airway clearance and management and also how to assist coughing when needed. Other managements include chest physiotherapy and postural drainage which are essential secretion mobilization techniques.

In patients with tracheotomy, there is the need for educating the care givers and the family members on the change of the tracheotomy tube, cleaning of the stoma and the monitoring of the complications. As such, with the proper techniques of taking o the tracheotomy, there is decrease in the development of the complications (Bodensteiner, 2014). as well as readmissions to a health care facility and therefore reduction in the cost.

Gastrointestinal and Nutrition

Among patients with SMA, gastrointestinal complications are common and are associated with the risk of aspiration and pneumonia. These patients’ presents with difficulty in feeding, swallowing as a result of bulbar dysfunction. As such, the patient is characterized with generalized weakness, tongue weakness, difficulty in opening the mouth as well as poor head control (Bodensteiner, 2014). Other symptoms of the GIT dysfunction include delayed gastrointestinal emptying and constipation.

According to Menezes & North (2014), for a 6 month child with the SMA, there is the need to manage the aspiration associated with the feeding and difficulties. Another important aspect is the change in the food consistency to ensure there is optimization of food intake. As such, the child can be given semisolid diet and thick fluids to help in protecting against aspiration. The child had a Gastrostomy in place and research shows that it does not help overcome the problem of aspiration. The caregivers should be educated on how to administer the foods as well as administration of the antacids, proton pump inhibitors and histamine blockers for the purpose of preventing the chances of GERD.

Nurses should inform the caregivers that malnutrition is common and therefore, the cases of fasting should be avoided due to its association with the reduction in the mass wasting as well as the subsequent impaired function and the worsening weakness. There is also the need to evaluate the children individually and encourage them to visit their pediatrician with the aim of avoiding the excessive intake and the maintenance of a healthy growth curve (Sparks, 2015). SMA patients are at risk of developing decreased muscle density and therefore, there is the need for the increased intake of vitamin D as well as calcium.

Musculoskeletal

Patients with SMA often experience weakness and impaired mobility which are the central features thereby predisposing them to numerous musculoskeletal issues. Health care givers and the family members should be educated on the need for the early recognition as well as implementation of the most appropriate interventions which are crucial for the maintence of function as the prevention of the deterioration of the vital capacity as well as improving the quality of life. The management of the musculoskeletal aspect in patients with SMA requires a multidisciplinary approach. The care giver on discharge should be taught on the need for identifying the functional level as well as the limitation and the improvement of the quality of life. In immobile patients, there is the increased risk of developing contractures and therefore the need for teaching the care givers of the passive and stretching exercises.

Conclusion

SMA is a severe illness with a poor prognosis, however, through rehabilitative, supportive and palliative care; there is the increased probability of increasing the functionality as well as the quality of life. Patients with the condition presents with muscle weakness, impaired nutrition and respiration. The management of the condition requires the collaborative and multidisciplinary action. Counseling and educating the family members is paramount in the management of children with SMA. Health care among the children aims at addressing the issues of nutrition, respiratory and musculoskeletal challenges. During the discharge of these patients, they are educated on the aforementioned areas for the purpose of preventing complications as well achievement of the best possible outcomes.

References

Bodensteiner, J. B. (2014). Congenital myopathies. In Neuromuscular Disorders in Clinical Practice (pp. 1295-1310). Springer New York.

Menezes, M. P., & North, K. N. (2014). Inherited neuromuscular disorders: pathway to diagnosis. Journal of paediatrics and child health, 48(6), 458-465.

Sparks, S. E. (2015). Neonatal hypotonia. Clinics in perinatology, 42(2), 363-371.

Strubhar, A. J., Meranda, K., & Morgan, A. (2014). Outcomes of infants with idiopathic hypotonia. Pediatric Physical Therapy, 19(3), 227-235.

Toussaint, M., Chatwin, M., Gonzalez, J., Berlowitz, D. J., & ENMC Respiratory Therapy Consortium. (2017). 228Th ENMC international workshop: airway clearance techniques in neuromuscular disorders 3-5 march, 2017, naarden, the netherlands. Neuromuscular Disorders.