Penatalaksanaan Down Syndrome

Oleh :

dr.Nailla Fariq Alfiani

Penatalaksanaan Down syndrome bertujuan untuk meningkatkan kualitas hidup, mengoptimalkan potensi, serta menangani kelainan sistem organ yang dialami pasien. Dibutuhkan keterlibatan berbagai bidang disiplin ilmu dalam menangani Down syndrome.[7-9]

Medikamentosa diberikan sesuai keluhan dan gangguan organ yang dialami pasien. Pembedahan dilakukan jika ada kelainan organik yang muncul, misalnya penyakit jantung bawaan. Terapi suportif juga perlu dilakukan, seperti intervensi tumbuh kembang, fisioterapi, terapi okupasional, serta konseling psikologi dan pendidikan.[1-3,7-9]

Vaksinasi pneumokokus dan influenza rutin disarankan bagi pasien Down syndrome dikarenakan tingginya risiko infeksi saluran pernapasan.[1,10,30]

Referensi

1. Akhtar F, Bokhari SRA. Down syndrome . [Updated 2021 Dec 12]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. https://www.ncbi.nlm.nih.gov/books/NBK526016/
2. Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH. Down syndrome . Nat Rev Dis Primers. 2020 Feb 6;6(1):9. doi: 10.1038/s41572-019-0143-7. PMID: 32029743; PMCID: PMC8428796.
3. Mundakel GT. Down syndrome . Medscape. 2022. https://emedicine.medscape.com/article/943216-overview
7. CDC. Facts about Down syndrome . National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. 2021. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
8. Pusat Data dan Informasi Kementrian Kesehatan Republik Indonesia. Down syndrome. 2019. https://pusdatin.kemkes.go.id/resources/download/pusdatin/infodatin/infodatin-down-syndrom-2019-1.pdf
9. Wahongan C Dan Gessal J. Medical Rehabilitation In Patient With Down syndrome . Jurnal Medik dan Rehabilitasi Universitas Sam Ratulangi Manado, 2021. Vol 3, No 2. Https://Ejournal.Unsrat.Ac.Id/Index.Php/Jmr/Article/View/34440
10. Irwanto, Wicaksono H., Ariefa A., Samosir SM. A-Z Down syndrome . Airlangga University Press. 2019. https://repository.unair.ac.id/89288/3/A-Z%20Sindrom%20Down_compressed.pdf
30. Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; COUNCIL ON GENETICS, Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Health Supervision for Children and Adolescents With Down syndrome . Pediatrics. 2022 May 1;149(5):e2022057010. doi: 10.1542/peds.2022-057010. PMID: 35490285.
48. Santoro SL, Jacobson T, Lemle S, Bartman T. Integrating a Geneticist in a Multidisciplinary Clinic for Down syndrome Increases Commitment to Genetic Counseling. Pediatr Qual Saf. 2017 Aug 25;2(5):e039. doi: 10.1097/pq9.0000000000000039. PMID: 30229175; PMCID: PMC6132463.
49. Balwan W, Saba N. Clinical, Genetic aspect and Genetic counseling of Down syndrome . 2021. https://www.researchgate.net/publication/348994639_Clinical_Genetic_aspect_and_Genetic_counselling_of_Down_syndrome
50. Hefti E, Blanco JG. Pharmacotherapeutic Considerations for Individuals with Down syndrome . Pharmacotherapy, 2017. 37(2), 214–220. https://doi.org/10.1002/phar.1880
51. Piatti AE, Stefani B, Bini G, Bargagna S. Multidisciplinary early intervention in Down syndrome : a retrospective study. Minerva pediatrics, 2022. 10.23736/S2724-5276.22.06797-0. https://doi.org/10.23736/S2724-5276.22.06797-0
52. Nordstrøm M, Retterstøl K, Hope S, Kolset SO. Nutritional challenges in children and adolescents with Down syndrome . The Lancet. Child & adolescent health, 2020. 4(6), 455–464. https://doi.org/10.1016/S2352-4642(19)30400-6
53. Ravančić ME ,Obradović V. Usage of nutritional supplements for individuals with Down syndrome . Progress in Nutrition, 2021; Vol. 23, N. 3: e2021092 DOI: 10.23751/pn.v23i3.9335. https://www.mattioli1885journals.com/index.php/progressinnutrition/article/view/9335/9486
54. Roccatello G, Cocchi G, Dimastromatteo RT, Cavallo A, Biserni GB, Selicati M, Forchielli ML. Eating and Lifestyle Habits in Youth With Down syndrome Attending a Care Program: An Exploratory Lesson for Future Improvements. Front Nutr. 2021 Sep 8;8:641112. doi: 10.3389/fnut.2021.641112. PMID: 34568399; PMCID: PMC8455913.
55. Popovic M, Bjelanovic J, Velicki R, Popovic V. Nutritional interventions in people with Down syndrome . 2017. https://www.researchgate.net/publication/321334204_Nutritional_interventions_in_people_with_Down_Syndrome
56. Wahongan C, Gessal J. Medical Rehabilitation in Patient With Down syndrome . Jurnal Medik dan Rehabilitasi, 2021. Vol 3, No 2. https://ejournal.unsrat.ac.id/index.php/jmr/article/view/34440
57. Khan, Bilal & Amin, Wakar & Najar, Shabir. (2020). Scope of Social Work Practice for Families of Children with Down syndrome . Journal of Intellectual Disability - Diagnosis and Treatment. 751-759. 10.6000/2292-2598.2020.08.04.17. https://www.researchgate.net/publication/347236726_Scope_of_Social_Work_Practice_for_Families_of_Children_with_Down_Syndrome
58. Galafate, D., Pournajaf, S., Condoluci, C., Goffredo, M., Di Girolamo, G., Manzia, C. M., Pellicciari, L., Franceschini, M., & Galli, M. (2020). Bilateral Foot Orthoses Elicit Changes in Gait Kinematics of Adolescents with Down syndrome with Flatfoot. International journal of environmental research and public health, 17(14), 4994. https://doi.org/10.3390/ijerph1714499
59. Schmidt, P., Goedicke-Padligur, G., Schulte, A. G., Benz, K., & Jackowski, J. (2020). Implant-supported prosthetic rehabilitation of a senescent patient with Down syndrome . Quintessence international (Berlin, Germany : 1985), 51(2), 170–177. https://doi.org/10.3290/j.qi.a43769
60. Marder L, McCall C. Nottingham Guidelines for the Management of Children with Down syndrome . Nottingham Children’s Hospital. 2017. https://www.dsmig.org.uk/wp-content/uploads/2017/10/Nottingham-Down-syndrome-guidelines-2017.pdf
61. National Down syndrome Society. Significance of Down syndrome Healthcare-Specific Guidelines. 2022. https://www.ndss.org/resources/healthcare-guidelines
62. Robinson J, Pompe MT, Gerth-Kahlert C. Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations. Journal of ophthalmology, 2021, 8870680. https://doi.org/10.1155/2021/8870680

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