Nadir Hastalıklarda Telenütrisyon Desteği Olumlu Etkiler Oluşturabilir: Spinal Musküler Atrofi Tip 2 Olgu Sunumu

Abstract

Bu olgu sunumunda, sipinal muskuler atrofi tip 2 tanısı olan 13 yaşında erkek hastanın 6 ay süren telenütrisyon danışmanlık süreci tartışılmıştır. Tekerlekli sandalye kullanan ve ağızdan beslenen hastada ağır malnütrisyon görülmüştür. Tüm bulguların incelenmesi sonucunda günlük 50 kkal/kg enerji ve 1.85 g/kg protein içeren diyet ile 6 aylık telenütrisyon danışmanlık süreci başlatılmıştır. Süreç sonunda hastanın vücut ağırlığı 30,5 kg’den 35 kg’ye, beden kütle indeksi 13,6 kg/m2’den 15,6 kg/m2’ye ve yaşa göre beden kütle indeksi Z-skoru değeri ise -3,04’den -1,75’e yükselmiştir. Aile danışmanlık sürecinden memnun kaldığını belirtmiştir. Sipinal muskuler atrofi tanılı hastalar tıbbi beslenme tedavisi danışmanlığına ihtiyaç duymaktadır. Hastalara ulaşmak ve tedavi sürecini sağlamak için telenütrisyon danışmanlığının faydalı olabileceği düşünülmektedir.

Keywords

• Nadir hastalıklar
• Spinal muskuler atrofi
• Beslenme
• Telenütrisyon

Telenutrition Support in Rare Diseases May Have Positive Effects: Spinal Muscular Atrophy Type 2 Case Report

Abstract

In this case report, the 6-month telenutrition counseling process of a 13-year-old male patient diagnosed with spinal muscular atrophy type 2 was discussed. Severe malnutrition was observed in the patient, who used a wheelchair and was fed orally. As a result of examining all the findings, a 6-month telenutrition counseling process was started with a diet containing 50 kcal/kg of energy and 1.85 g/kg of protein per day. At the end of the process, the patient’s body weight increased from 30.5 kg to 35 kg, the body mass index increased from 13.6 kg/m2 to 15.6 kg/m2, and the body mass index Z-score value for age increased from -3.04 to -1.75. The family expressed satisfaction with the counseling process. Patients diagnosed with spinal muscular atrophy require medical nutritional therapy counseling. Telenutrition counseling is considered beneficial in reaching patients and ensuring the treatment process.

Keywords

• Rare diseases
• Spinal muscular atrophy
• Nutrition
• Telenutrition

References

1. Mercuri E, Sumner CJ, Muntoni F, Darras BT, Finkel RS. Spinal muscular atrophy. Nat Rev Dis Primers. 2022;8(1):52.
2. Muslu M. Spinal muscular atrophy (SMA) and medical nutrition therapy. J Adv Res Health Sci. 2021;4(3):131-40. Turkish.
3. Muslu M. A current approach in medical nutrition therapy: Telenutrition. BAUN Health Sci J. 2022;11(3):523-31. Turkish.
4. Academy of Nutrition and Dietetics. Definition of terms list, February 2021. Chicago, IL: Academy of Nutrition and Dietetics; 2021.
5. Cutillo L, Pizziconi C, Tozzi AE, Verrillo E, Testa MBC, Cutrera R. Predicted and measured resting energy expenditure in children with spinal muscular atrophy 2. J Pediatr. 2014;164(5):1228-30.
6. Bertoli S, De Amicis R, Mastella C, Pieri G, Giaquinto E, Battezzati A, et al. Spinal muscular atrophy, types I and II: What are the differences in body composition and resting energy expenditure? Clin Nutr. 2017;36(6):1674-80.
7. United Nations University, World Health Organization, Food and Agriculture Organization. Human energy requirements: report of a joint FAO/WHO/UNU expert consultation. Rome: Food and Nutrition Technical Report Series; 2001.
8. T.C. Sağlık Bakanlığı, Halk Sağlığı Genel Müdürlüğü. Türkiye beslenme rehberi (TUBER) 2022. Ankara: Sağlık Bakanlığı Yayın No:1031; 2022. Turkish.

9. World Health Organization Multicentre Growth Reference Study Group. World Health Organization child growth standards based on length/height, weight and age. Acta Paediatr Suppl. 2006;95(S450):76-85.
10. Zubarioglu T, Hopurcuoglu D, Uygur E, Ahmadzada S, Oge-Enver E, Isat E, et al. The impact of telemedicine for monitoring and treatment of phenylketonuria patients on metabolic outcome during coronavirus disease-19 outbreak. Telemed J E Health. 2022;28(2):258-65.
11. Prasetyo YB, Permatasari P, Susanti HD. The effect of mothers’ nutritional education and knowledge on children’s nutritional status: a systematic review. Int J Child Care Educ Policy. 2023;17:11.
12. Brunton C, Arensberg MB, Drawert S, Badaracco C, Everett W, McCauley SM. Perspectives of registered dietitian nutritionists on adoption of telehealth for nutrition care during the COVID-19 pandemic. Healthcare (Basel). 2021;9(2):235.
13. Daud NLHM, Nor NM, Jaafar NH, Abu Bakar WAM, Shukri NAM. The feasibility and effectiveness of telenutrition for remote dietary consultation: A systematic review and meta-analysis protocol. Mal J Med Health Sci. 2023;19(Supp 9):337-42.
14. Muslu M. Telenutrition counseling for body weight control: A case report. Journal of Kastamonu University Faculty of Health Sciences. 2022;1(1):42-7. Turkish.
15. Zhou Y, Chen J, Gong X, Lu Z, Hua H, Zhu X, et al. Nutrition status survey of type 2 and 3 spinal muscular atrophy in Chinese population. Nutr Neurosci. 2022;25(7):1488-94.
16. Wadman RI, De Amicis R, Brusa C, Battezzati A, Bertoli S, Davis T, et al. Feeding difficulties in children and adolescents with spinal muscular atrophy type 2. Neuromuscul Disord. 2021;31(2):101-12.