Down Sendromunda Tıbbi Beslenme Tedavisi

Yıl 2024, Cilt: 6 Sayı: 1, 18 - 25, 17.08.2024

Sümeyye Uçak

https://doi.org/10.47769/izufbed.1374117

Öz

Down Sendromu (DS), kromozom çiftinin mayoz bölünmesi sırasında, 21. kromozomun iki tane olması gerekirken üç tane olması durumu ile gerçekleşen bir anomalidir. Var olan ekstra kromozom, bireylerde hafıza ve konuşma problemleri, yavaş motor gelişimi ve zekâ geriliği gibi gelişim problemlerine ve akabinde beslenme sorunlarına sebep olmaktadır. Ayrıca, özellikle çocukların büyüme ve gelişme döneminde kalp hastalıkları, nörolojik hastalıklar ve gastrointestinal hastalıklar gibi önemli sağlık problemlerine sahip olmaları tüm yaşamlarını olumsuz etkilemektedir. DS’li bireylerde obezite oranı yüksek bulunmuştur. Obezite prevelansının yüksek olması, bazal metabolizma hızının düşük oluşu, azalmış kemik kütlesi, yüksek enerjili düşük besin değerli besin tüketimi, hipotiroidizm varlığı ve azalmış fiziksel aktivite ile ilişkilendirilmiştir. Çalışmalar DS’li bireylerin obezite tedavisinde, sağlıklı besin seçimi ve ebeveyn beslenme eğitiminin gerekliliği ile fiziksel aktivite teşvikinin önemini vurgulamaktadır. Bu derlemede, DS’li bireylerin beslenme durumunun araştırılmasına ve tıbbi beslenme tedavisinin önemine değinilmiştir.

Anahtar Kelimeler

Down Sendromu, Beslenme Tedavisi, Obezite

Kaynakça

• Akbulut, G. (2019). Krause Besin ve Beslenme Bakım Süreci (s. 915-918). Ankara: Nobel Tıp Kitapevi.
• Akhtar, F., & Bokhari, S. R. A. (2020). Down Syndrome (Trisomy 21), StatPearls [https://www.ncbi.nlm.nih.gov/books/NBK526016/].
• AlJameel, A. H., Watt, R. G., Tsakos, G., & Daly, B. (2020). Down syndrome and oral health: mothers’ perception on their children’s oral health and its impact. Journal of patient-reported outcomes. 4(1): 1-8, doi:10.1186/s41687-020-00211-y.
• Antonarakis, S. E., Skotko, B. G., Rafii, M. S., Strydom, A., Pape, S. E., Bianchi, D. W., Sherman, S. L., & Reeves, R. H. (2020). Down syndrome. Nature Reviews Disease Primers. 6(1): 9, doi: 10.1038/s41572-019-0143-7.
• Arumugam, A., Raja, K., Venugopalan, M., Chandrasekaran, B., Kovanur Sampath, K., Muthusamy, H., & Shanmugam, N. (2016). Down syndrome—A narrative review with a focus on anatomical features. Clinical anatomy. 29(5): 568-577, doi: 10.1002/ca.22672.
• Barišić, A., Ravančić, M. E., Majstorivić, D., & Vraneković, J. (2023). Micronutrient status in children and adolescents with Down syndrome: systematic review and meta‐analysis. Journal of Intellectual Disability Research. 67(8): 701-719, doi: 10.1111/jir.13042.
• Bermudez, B. E., de Oliveira, C. M., de Lima Cat, M. N., Magdalena, N. I., & Celli, A. (2019). Gastrointestinal disorders in Down syndrome. American Journal of Medical Genetics Part A, 179(8): 1426-1431, doi: 10.1002/ajmg.a.61258.
• Bertapelli, F., Pitetti, K., Agiovlasitis, S., & Guerra-Junior, G. (2016). Overweight and obesity in children and adolescents with Down syndrome—prevalence, determinants, consequences, and interventions: a literature review. Research in Developmental Disabilities. 57: 181-192, doi: 10.1016/j.ridd.2016.06.018.
• Black, M. M. (2008). Effects of vitamin B12 and folate deficiency on brain development in children, Food. Nutr. Bull. 29(2): 126-131, doi: 10.1177/15648265080292S117.
• Bull, M. J., Trotter, T., Santoro, S. L., Christensen, C., Grout, R. W., Burke, L. W., Berry, S. A., Geleske, T. A., Holm, I., Hopkin, R. J., Introne, W. J., Lyons, M. J., Monteil, D. C., Scheuerle, A., Stoler, J. M., Vergano, S. A., Chen, E., Hamid, R., Downs, S. M., … Spire, P. (2022). Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 149(5): e2022057010, doi: 10.1542/peds.2022-057010.
• Brantmüller, É., Gyuró, M., & Karácsony, I. (2015). Development of Walking and Self-sufficiency Ability Related to Nutrition among People with Down Syndrome. Pract. Theory Syst. Educ. 10: 165-176.
• Carlson, E.S., Stead, J.D., Neal, C.R., Petryk, A., Georgieff, M.K. (2007). Perinatal iron deficiency results in altered developmental expression of genes mediating energy metabolism and neuronal morphogenesis in hippocampus. Hippocampus. 17(8): 679-691, doi: 10.1002/hipo.20307.
• Cena, H., & Calder, P. C. (2020). Defining a Healthy Diet: Evidence for The Role of Contemporary Dietary Patterns in Health and Disease. Nutrients. 12(2): 334, doi: 10.3390/nu12020334.
• Centers for Disease Control and Preventation. Facts about Down Syndrome. Erişim tarihi: 10.10.2023, https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html.
• Charleton, P. M., Dennis, J., & Marder, E. (2014). Medical management of children with Down syndrome, Paediatrics and Child Health. 24(8): 362-369.
• Contaldo, M., Lucchese, A., Romano, A., Della Vella, F., Di Stasio, D., Serpico, R., & Petruzzi, M. (2021). Oral microbiota features in subjects with down syndrome and periodontal diseases: a systematic review. International Journal of Molecular Sciences. 22(17): 9251, doi: 10.3390/ijms22179251.
• Cronin, P., Joyce, S. A., O'Toole, P. W., & O'Connor, E. M. (2021). Dietary Fibre Modulates the Gut Microbiota. Nutrients, 13(5): 1655, doi: 10.3390/nu13051655. Çoğullu Ö. (2018). Down Sendromu A’dan Z’ye, Ankara Nobel Tıp Kitabevleri. Ankara
• De Graaf, G., Buckley, F., & Skotko, B. (2019). People living with down syndrome in the USA: Births and population. Down Syndrome Education International. https://dsuri. net/us-population-factsheet.
• De Lausnay, M., Ides, K., Wojciechowski, M., Boudewyns, A., Verhulst, S., & Van Hoorenbeeck, K. (2021). Pulmonary complications in children with Down syndrome: A scoping review. Paediatric respiratory reviews. 40: 65–72, doi: 10.1016/j.prrv.2021.04.006.
• De Souza, A.S., Fernandes, F.S., Do Carmo, M.G. (2011). Effects of maternal malnutrition and postnatal nutritional rehabilitation on brain fatty acids, learning, and memory. Nutr. Rev. 69(3): 132-144, doi: 10.1111/j.1753- 4887.2011.00374.x.
• Dey, A., Bhowmik, K., Chatterjee, A., Chakrabarty, P. B., Sinha, S., & Mukhopadhyay, K. (2013). Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. Frontiers in genetics, 4: 57, doi: 10.3389/fgene.2013.00057.
• Delange, F. (2000). The role of iodine in brain development, Proc. Nutr. Soc. 59(1): 75-79, doi: 10.1017/s0029665100000094
• Demir P., Güler Ç. (2013). Down sendromlu çocuklarda ağız-diş sağlığı. Atatürk Üniversitesi Diş Hekimliği Dergisi. 23(1):274-281.
• Dimopoulos, K., Constantine, A., Clift, P., Condliffe, R., Moledina, S., Jansen, K., Inuzuka, R., Veldtman, G. R., Cua, C. L., Tay, E. L. W., Opotowsky, A. R., Giannakoulas, G., Alonso-Gonzalez, R., Cordina, R., Capone, G., Namuyonga, J., Scott, C. H., D'Alto, M., Gamero, F. J., Chicoine, B. (2023). Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus. Circulation, 147(5):425–441, doi: 10.1161/CIRCULATIONAHA.122.059706.
• Durhan, M. A., & Tanboğa, İ. (2016). Down Sendromlu Çocuklarda Uyku Apne Sendromu ve Ağız Diş Sağlığı. Atatürk Üniversitesi Diş Hekimliği Fakültesi Dergisi. 26(3): 511-516.
• Ellis JM., Tan HK., Gilbert RE., Muller DPR., Henley W., Moy R., Pumphry R., Ani C., Daies S., Edwards V. Et al. (2008). Supplemantatio with antioxidants and folinic acid for children with Down’s syndome. British Medical Journal. 15; 336(7644): 594–59, doi: 10.1136/bmj.39465.544028.AE.
• Eştürk, K. K. (2019). Down Sendromu Olan Çocuğa Sahip Ana Babaların Yaşadıkları Sorunların Çeşitli Değişkenlere Göre İncelenmesi (Doktora Tezi). Kastamonu Üniversitesi. Kastamonu.
• Fleming, R. K., Stokes, E. A., Curtin, C., Bandini, L. G., Gleason, J., Scampini, R., ... & Hamad, C. (2008). Behavioral health in developmental disabilities: A comprehensive program of nutrition, exercise, and weight reduction. International Journal of Behavioral Consultation and Therapy. 4(3): 287, doi: 10.1037/h0100858.
• Funk, R.S., Jones, J., Polireddy, K., Zimmerman, K.O., Reed, G., Talib, N., Becker, M.L. (2020). Folates in children with Down syndrome and the impact of dietary supplementation. J. Human Clin. Gen. 2(1): 1-8, doi: 10.29245/2690-0009/2020/1.1110.
• Girli, A., Yurdakul, A., Sarısoy, M., & Özekeş, M. (2000). Zihinsel engelli ve otistik çocukların ana babalarına yönelik grup danışmanlığının depresyon, benlik saygısı ve tutumları üzerine etkisi. Saray Rehabilitasyon. 6: 2-9.
• Görmez, A., & Kırpınar, İ. (2016). Down Sendromu ve Demans: İlişkisi ve Klinik Özellikleri. In Yeni Symposium (Vol. 54, No. 1), doi: 10.5455/NYS.2016003.
• Grammatikopoulou, M. G., Manai, A., Tsigga, M., Tsiligiroglou-Fachantidou, A., Galli-Tsinopoulou, A., & Zakas, A. (2008). Nutrient intake and anthropometry in children and adolescents with Down syndrome--a preliminary study. Developmental neurorehabilitation. 11(4):260–267, doi: 10.1080/17518420802525526.
• Guéant, J. L., Guéant-Rodriguez, R. M., & Alpers, D. H. (2022). Vitamin B12 absorption and malabsorption. Vitamins and hormones. 119: 241–274, doi: 10.1016/bs.vh.2022.01.016.
• Hart, S.J., Zimmerman, K., Linardic, M.C., Cannon, S., Pastore, A., Patsiogiannis, V., Rossi, P., Santoro, S.L., Skotko, B.G., MD, Torres, A Valentini, D., Vellody, K., Worley, G., Kishnani, P.S. (2020). Detection of iron deficiency in children with Down syndrome, Genet. Med. 22(2): 317-325, doi: 10.1038/s41436-019-0637-4.
• Haligheri, G., Johnson, T., Kathol, M., Kuzava, L., Goth, N., Staggs, V. S., Donnelly, J. E., Ptomey, L. T., & Forsha, D. (2023). Early cardiac dysfunction in obese adolescents with Down syndrome or autism. Cardiology in the young, 33(9), 1678–1685, doi: 10.1017/S1047951122003158.
• Haseeb, A., Huynh, E., ElSheikh, R. H., ElHawary, A. S., Scelfo, C., Ledoux, D. M., Maidana, D. E., & Elhusseiny, A. M. (2022). Down syndrome: a review of ocular manifestations. Therapeutic advances in ophthalmology, 14: 25158414221101718, doi: 10.1177/25158414221101718.
• Hetman, M., & Barg, E. (2022). Pediatric Population with Down Syndrome: Obesity and the Risk of Cardiovascular Disease and Their Assessment Using Omics Techniques. Biomedicines, 10(12): 3219, doi: 10.3390/biomedicines10123219.
• Hill, D. L., Parks, E. P., Zemel, B. S., Shults, J., Stallings, V. A., & Stettler, N. (2013). Resting energy expenditure and adiposity accretion among children with Down syndrome: a 3-year prospective study. European Journal Of Clinical Nutrition. 67(10): 1087-1091, doi: 10.1038/ejcn.2013.137.
• Holmes, G. (2014). Gastrointestinal disorders in Down syndrome. Gastroenterol Hepatology from Bed to Bench, 7(1): 6-8, PMID: 25436092.
• Hu, W., Zhao, C., Hu, H., & Yin, S. (2021). Food Sources of Selenium and Its Relationship with Chronic Diseases. Nutrients, 13(5): 1739, doi: 10.3390/nu13051739.
• Kömerik N., Kırzıoğlu Z., Efeoğlu C.G. (2012). Zihinsel engele sahip bireylerde ağız sağlığı. Atatürk Üniversitesi Diş Hekimliği. 22(1): 96-104.
• Körten, M. A., Helm, P. C., Abdul-Khaliq, H., Baumgartner, H., Kececioglu, D., Schlensak, C., ... & Competence Network for Congenital Heart Defects Investigators. (2016). Eisenmenger syndrome and long-term survival in patients with Down syndrome and congenital heart disease. Heart. 102(19): 1552-1557, doi:10.1136/heartjnl-2016-309437.
• Lima, A.S., Cardoso, B.R., Cozzolino, S.F. (2010). Nutritional status of zinc in children with Down syndrome. Biol. Trace. Elem. Res. 133(1), 20-28, doi: 10.1007/s12011-009-8408-8.
• Little, J. A., Woodhouse, M. J., Lauritzen, J. S., & Saunders, K. J. (2007). The Impact of Optical Factors on Resolution Acuity in Children with Down Syndrome. Clinical and Epidemiologic Research. 48: 3995-4001, doi: 10.1167/iovs.06-1387.
• Ljubic, A., Trajkovski, V., & Stankovic, B. (2011). Strabismus, refractive errors and nystagmus in children and young adults with Down syndrome. Ophthalmic Genetics. 32(4): 204-211, doi: 10.3109/13816810.2011.592175.
• Lotfollahzadeh, S., Taherian, M., & Anand, S. (2023). Hirschsprung Disease. In StatPearls.
• Magenis, M. L., Machado, A. G., Bongiolo, A. M., Silva, M. A. da, Castro, K., & Perry, I. D. S. (2017). Dietary practices of children and adolescents with Down syndrome. Journal of Intellectual Disabilities. 22(2): 125–134, doi: 10.1177/1744629516686571.
• Marild, K., Stephansson, O., Grahnquist, L., Cnattingius, S., Söderman, G., & Ludvigsson, J. F. (2013). Down syndrome is associated with elevated risk of celiac disease: a nationwide case-control study. The Journal of pediatrics. 163(1): 237-242, doi: 10.1016/j.jpeds.2012.12.087.
• Martínez-Espinosa, R. M., Molina Vila, M. D., & Reig García-Galbis, M. (2020). Evidences from Clinical Trials in Down Syndrome: Diet, Exercise and Body Composition. International journal of environmental research and public health, 17(12): 4294, doi: 10.3390/ijerph17124294.
• Mazurek D., Wyka J. (2015). Down Syndrome Genetic and Nutritional Aspects of Accompanying Disorders. Rocz Panstw Zakl Hig, 66(3):189-184.
• Nordstrøm, M., Paus, B., Andersen, L. F., & Kolset, S. O. (2015). Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader–Willi syndrome. Food & Nutrition Research. 59(1): 25487, doi: 10.3402/fnr.v59.25487.
• Nordstrøm, M., Retterstøl, K., Hope, S., & Kolset, S. O. (2020). Nutritional challenges in children and adolescents with Down syndrome. The Lancet Child & Adolescent Health, 4(6): 455-464, doi: 10.1016/S2352-4642(19)30400-6.
• Pfeiffer, C.M., Hughes, J.P., Lacher, D.A., Bailey,R.L., Berry, R.J., Zhang, M., Yetley, E.A., Rader, J.I., Sempos, C.T., Johnson, C.L. (2012): Estimation of trends in serum and RBC folate in the U.S. population from pre- to postfortification using assay-adjusted data from the NHANES 1988- 2010. J. Nutr. 142(5): 886-893, doi: 10.3945/jn.111.156919.
• Pierce, M., Ramsey, K., & Pinter, J. (2019). Trends in obesity and overweight in Oregon children with Down syndrome. Global Pediatric Health, 6:2333794X19835640, doi: 10.1177/2333794X19835640.
• Prado, E.L., Dewey, K.G. (2014). Nutrition and brain development in early life. Nutr. Rev. 72(4): 267-284, doi: 10.1111/nure.12102.
• Rafii, M. S., Kleschevnikov, A. M., Sawa, M., & Mobley, W. C. (2019). Down syndrome. Handbook of Clinical Neurology. 167: 321-336, doi:10.1016/B978-0-12-804766-8.00017-0.
• Ravel, A., Mircher, C., Rebillat, A. S., Cieuta-Walti, C., & Megarbane, A. (2020). Feeding problems and gastrointestinal diseases in Down syndrome. Archives de Pédiatrie. 27(1): 53- 60, doi: 10.1016/j.arcped.2019.11.008.
• Schuchardt, J., Huss, M., Stauss-Grabo, M., Hahn, A. (2010). Significance of longchain polyunsaturated fatty acids (PUFAs) for the development and behaviour of children. Eur. J. Pediatr. 169(2): 149-164, doi: 10.1007/s00431-009-1035-8.
• Seiverling, L., Hendy, H. M., & Williams, K. (2011). The Screening Tool of Feeding Problems applied to children (STEP-CHILD): psychometric characteristics and associations with child and parent variables. Research in developmental disabilities, 32(3): 1122–1129, doi: 10.1016/j.ridd.2011.01.012.
• Sharma, S., Sheehy, T., & Kolonel, L. (2014). Sources of vegetables, fruits and vitamins A, C and E among five ethnic groups: results from a multiethnic cohort study. European journal of clinical nutrition. 68(3), 384–391, doi: 10.1038/ejcn.2013.271.
• Shaw C.K., Thapalial A., Nanda S., Shaw P. (2006). Thyroid dysfunction in Down syndrome. Kathmandu Univ Med J. 4(2): 182-1862.
• Sillence, K. A., Madgett, T. E., Roberts, L. A., Overton, T. G., & Avent, N. D. (2013). Non-invasive screening tools for Down’s syndrome: a review. Diagnostics. 3(2): 291-314, doi: 10.3390/diagnostics3020291.
• Snetselaar, L. G., de Jesus, J. M., DeSilva, D. M., & Stoody, E. E. (2021). Dietary Guidelines for Americans, 2020-2025: Understanding the Scientific Process, Guidelines, and Key Recommendations. Nutrition today. 56(6): 287–295, doi: 10.1097/NT.0000000000000512.
• Stagi, S., Lapi, E., Romano, S., Bargiacchi, S., Brambilla, A., Giglio, S., ... & de Martino, M. (2015). Determinants of vitamin d levels in children and adolescents with down syndrome. International journal of endocrinology, 2015: 89675811, doi: 10.1155/2015/896758.
• Tiğli, D. (2016). Down sendromlu çocukların beslenme alışkanlıkları, boya göre ağırlık düzeyleri ve ailelerinin beslenme bilgilerinin değerlendirilmesi. (Yüksek Lisans Tezi). Haliç Üniversitesi. İstanbul.
• Torac, E., Gaman, L., & Atanasiu, V. (2014). The regulator of calcineurin (RCAN1) an important factor involved in atherosclerosis and cardiovascular diseases development. Journal of medicine and life. 7(4): 481–487.
• Türkiye Maternal-Fetal Tıp ve Perinatoloji Derneği (TMFTP). (2024, Nisan 17). Down Sendromu (Trizomi 21) Bilgilendirmesi. https://www.tmftp.org/files/downsendromu/down.pdf
• Valenti, D., Braidy, N., De Rasmo, D., Signorile, A., Rossi, L., Atanasov, A. G., ... & Vacca, R. A. (2018). Mitochondria as pharmacological targets in Down syndrome. Free Radical Biology and Medicine. 114: 69-83, doi: 10.1016/j.freeradbiomed.2017.08.014. Van Dyke D. C. (2003). Down Syndrome: Visions for the 21st Century. American Journal of Human Genetics, 72(5): 1354.
• Willis, J. R., Iraola-Guzmán, S., Saus, E., Ksiezopolska, E., Cozzuto, L., Bejarano, L. A., Andreu-Somavilla, N., Alloza-Trabado, M., Puig-Sola, A., Blanco, A., Broglio, E., Carolis, C., Hecht, J., Ponomarenko, J., & Gabaldón, T. (2020). Oral microbiome in down syndrome and its implications on oral health. Journal of oral microbiology, 13(1):1865690, doi: 10.1080/20002297.2020.1865690.
• Winje, B.A., Kvestad, I., Krishnamachari, S., Manji, K., Taneja, S., Bellinger, D.C., Bhandari, N., Bisht, S., Darling, A.M., Duggan, C.P., Fawzi, W., Hysing, M., Kumar, T., Kurpad, A.V., Sudfeld, C.R., Svensen, E.S., Thomas, S.T., Strand, T.A. (2018). Does early vitamin B12 supplementation improve neurodevelopment and cognitive function in childhood and into school age: a study protocol for extended follow-ups from randomised controlled trials in India and Tanzania, BMJ. 8:1-9, doi:10.1136/bmjopen-2017-018962.
• Whitt-Glover MC, O’Neill KL, Stettler N. (2006) Physical activity patterns in children with and without Down syndrome. Pediatr Rehabil. 9: 158–64, doi: 10.1080/13638490500353202.
• Yahia, S., El-Farahaty, R., El-Gilany, A. H., Shoaib, R., Ramadan, R., & Salem, N. (2021). Serum adiponectin, body adiposity and metabolic parameters in obese Egyptian children with Down syndrome. Journal of pediatric endocrinology & metabolism. 34(11): 1401–1410, doi: 10.1515/jpem-2021-0324.
• Yamanaka E., Inayama T., Ohkawara K., Okazaki K., Kita I. (2020). The association between obesity and sedentary behavior or daily physical activity among children with Down's syndrome aged 7–12 years in Japan: A crosssectional study. Cell Press Heliyon, 6(9): e04861, doi: 10.1016/j.heliyon.2020.e04861.
• Yeung, S. S. Y., Kwan, M., & Woo, J. (2021). Healthy Diet for Healthy Aging. Nutrients, 13(12): 4310, doi: 10.3390/nu13124310.
• Yoldaş, K., & Yılmazer, Y. (2021). Down sendromlu bireylerde beslenme. Avrupa Bilim ve Teknoloji Dergisi, (23): 617-626, doi: 10.31590/ejosat.831542.
• Zhou, D. D., Luo, M., Huang, S. Y., Saimaiti, A., Shang, A., Gan, R. Y., & Li, H. B. (2021). Effects and Mechanisms of Resveratrol on Aging and Age-Related Diseases. Oxidative medicine and cellular longevity, 2021, 9932218. https://doi.org/10.1155/2021/9932218.
• Zmijewski, P.A., Gao, L.Y., Saxena, A.R., Chavannes, N.K, Hushmendy, S.F., Bhoiwala, D.L., Crawford, D.R. (2015). Fish oil improves gene targets of Down syndrome in C57BL and BALB/c mice. Nutr. Res., 35(5): 440-448, doi: 10.1016/j.nutres.2015.02.007.