The evaluation of patients diagnosed with spinal muscular atrophy in the general and palliative intensive care unit

Introduction and Aim: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the loss of motor neurons in the anterior horn of the spinal cord, related weakness, and muscle atrophy, and is the most common hereditary cause of child mortality. This study aims to retrospectively investigate the sociodemographic, clinical, and genetic analysis data of patients diagnosed with SMA/ALS motor neuron disease. Material and Method: A total of 33 patients, aged between 0 and 18 years regardless of gender, and diagnosed with SMA between June 2010 and June 2021 in Pediatric Intensive Care and Palliative Intensive Care Units of the Dicle University Faculty of Medicine, Department of Pediatrics, were retrospectively included in the study. Demographic data of the patients, medical history and physical examination findings, present pathologies or pathologies developed during follow-up, laboratory parameters, genetic analysis and pedigree, mortality status and its cause, treatment applied, post-treatment follow-up, and all the resulting data were recorded and analyzed statistically. Results: Of the patients, 54.5% were male, and the mean age was 50.3 ± 55.7 months. The age of diagnosis was 24.0 ± 4 9.7 months, and the age of symptom onset was 14.9±43.5 months. Of the patients, 72.7% were SMA1, 15.2% were SMA2, 9.1% were SMA3, and 3% were SMA4 patients. The number of copies of SMN1 was zero in 46.2% of the patients, two in 38.5%, and one in 15.4% of the patients. There were two SMN1 deletions in 96.3% of the patients, and one in 3.7% of the patients. In 45.5% of the cases, there was a 1st-degree kinship between parents, and 27.3% of them had a 2nd-degree kinship, while 21.2% were not related. It was found that siblings of 27.3% of the patients had died in the infant period. None of the mothers had a prenatal screening, and 36.3% had a history of abortion. Of the patients, 57.6% had a normal vaginal delivery, and 90.9% had a history of term childbirth. While 30.3% of the patients had no head movement control at the time of admission, 27.3% could not sit, 12.1% could not walk, 84.8% had tongue fasciculation, 57.6% had weakness in crying, 33.3% had orthopedic problems, and 8 24.2% had muscle atrophy. While 15.1% of the patients could be evaluated for intellectual disorders, 3% of these patients had normal and 12.1% had a severe intellectual disability. Patients' 1,25 (OH) vitamin-D level at the time of admission was 26.2 ± 7.1 ng/ml, the parathyroid hormone was 52.1 ± 24.6 mL, alkaline phosphatase was 214.9±129.7 IU/ml, calcium was 9.4 ± 1.1 mg/dL, creatine kinase was 69.9 ± 26.5 U/L, and phosphorus level was 4.9 ± 1.9. Of the patients, 24.2% were fed with percutaneous endoscopic gastrostomy, and 60.6% were fed with a nasogastric probe. Of the cases, 60.6% were provided with a mechanical ventilator (MV) through the tracheostomy, 18.2% had intubated MV, and 9.1% had oxygen support with a mask, while 12.1% did not need respiratory support. The mortality rate of SMA1 patients was 81,3%, and the mortality rate of SMA2 patients was 18,7%. Conclusion: In conclusion, with the increase in current treatment options in recent years, there are promising developments in the prognosis of the disease, despite the cost of the treatment. As with genetic-based diseases, questioning family history in detail, implementing newborn screening programs, and genetic counseling are important for early diagnosis of SMA. Considering the progressive symptoms in diagnosed patients, we believe that the systems should be screened in detail, and if there is a need for respiratory support according to SMA classification, advanced respiratory support methods, especially tracheostomy, should be started at an early stage, and treatment and follow-up should be managed with a multidisciplinary approach. Keywords: Pediatric Palliative Intensive Care, genetics, spinal muscular atrophy, survival motor neuron gene, screening