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Toruol Sindrom Down

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Sindrom Down, toi ko' oilaan nogi sabaagi trisomi-21 nopo nga iso koborulangan do genetik id nakaharo sabab no do kohinaan toi ko' kinohoroo' oinsanan toi ko' soboogian do salinan kotolu kromosom 21. Toruol nopo diti nga kosoruan pioniton kumaa kinoloidon kosunion do fizikal toi ko' koinano, koluhoyon agaan do id intelektual, om kouyuuyuon do turos. Kosoruan IQ nopo tulun id kiwaa toruol Sindrom Down nopo nga soginumu 50 id hinonggo kopiirad kumaa pomusarahan songulun tangaanak kiumul walu toi ko' siam toun nga mogisuusuai montok tikid susumakit Sindrom Down diti.

Panakatanda om simptom

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Tanak kusai mantad Somalia miampai Sindrom Down

Tulun di haro Sindrom Down nopo nga koinsoruan haro pijala' kotinano om intelektual.[1] Sabaagi songulun tulun di nosukod kabaalan mental diolo nopo nga koinsoruan do miagal don tangaanak kiumul 8 toi ko' 9 toun.[2] Ontok timpu di nogi, topurimanan ginua ginawo om sosial diolo nopo nga id bobos akawas.[3] Pungsi do imun oluhoi[4] om koinsoruan korikot.[5] Akawas nogi risiko diolo oontok do kobolingkangan kolidasan miagal ko pijala' tunduundu' kogenital, epilepsi, leukemia om nogi toruol tiroid.[6]

Kouyuuyuo' Piatus Kouyyuuyuo' Piatus
Pijala' mental 99%[7] Normal o nipon nga nipon abnormal nga milo nogi aantakan 60%[8]
Kosunion osungkok 90%[9] Mato poinsuyad id sawat 60%[10]
Hernia umbilikal 90%[11] Oniba longon 60%[8]
Topod kulit id dolikud do liou 80%[12] Oniba liou 60%[8]
Osiriba kalanatan do otot 80%[13] Apnea modop obstruktif 60%[12]
Okikip kahad do kabang 76%[8] Tompok tunturu ko limo poingkilong 57%[10]
Tulu apatau 75%[10] Oorok Brushfield id iris do mato 56%[10]
Ligamen ii fleksibel 75%[10] Iso rulud poimpatau id palad 53%[10]
Dila ii agayo maya relatif[14] 75%[13] Dila di pointondila 47%[8]
Tolingo soliwan ii amu normal 70%[12] Toruol tunduundu' kongenital 40%[8]
Todung di opipi 68%[10] Strabismus (mato obilau) ≈35%[15]
Atalang pisoduon do gondolohing om tunturu koduo 68%[8] Testis amu poinsoriba 20%[16]

Kotinanon

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Lapap do songulun tanak kusai miampai sindrom Down, popokito do pisoduon tunturu gondolohing

Tulun miampai Sindrom Down milo do kaanu piipiro kouyuuyuo' fizikal diti: roo di okoro, linopi epikanthik, kalanatan otot di osiriba, sunsuyon todung di alampai om dila di potondila,[17] Dila di potondila nopo nga sabab do kalanatan otott di osiriba om koluhoyon otot turos, om koinsoruan milo insanangan maya piguyatan myofungsional.[12] Piipiro kouyuuyo luyungan di poimbida milo nogi kopogowit do apnea todop obstruktif, ii koontok kiikiro satanga mantad tulun di haro Sindrom Down.[8][13] Kouyuuyuo' suai nopo nga kohimpit do kalanatan langaban di nokolobi, liwang di agayo mantad tunturu gakod gondolohing om tunturu gakod koduo, iso rulud linopi id palad om tunturu di oniba.[18][19]

Amu kopiirad langaban atlantoaksial koontok id kiikiro 1–2%.[20] Amu kopiiradan diti kaanu manahak do myelopati mantad do kopisakan id saraf tunjang serviks ii koontok id umul tohuri no. Kaantakan diti insaru popokito do topurimanan miagal ko koluhoyon di wagu koimbulai, kobolingkangan koordinasi, atagak katamangan kumaa sosobuan toi ko' tinai om kakasahon mamanau.[21] Imbasan kisiri amu kaanu do mangaga' kopisakan saraf serviks maya otopot nga milo intaan kosimbanan maya pongintangan neurologi. Kaantakan diti koinsoruan milo insanangan maya yayakan tulang dolikud.[22]

Koingkawason do kinawas nga alaid, kopogowit do tulun nosukod ii haro kinawas di osiriba — miampai purata kinawas montok kusai 154 sentimeter (5 kaki 1 inci) om montok tondu 142 sentimeter (4 kaki 8 inci).[23] Tulun miampai Sindrom Down nopo nga haro risiko di akawas montok obesiti soira oruhangan umul, bagas mantad faktor miagal ko hipotiroidisme, kobolingkangan koubatan suai om kowoyowoyoon koposion.[24][25] Pinaharo carta koingkawason poimbida montok tangaanak miampai Sindrom Down.[26]

Neurologikal

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Tanak kusai miampai Sindrom down momoguno do sikuru montok popisokot raak do buuk

Sindrom diti nopo nga nakapanahak do kiikiro iso per tolu kiis pijala' intelek.[10] Kogumuan kinogimpoton koingkawason alaid do koontok miampai kabaalan do monungkamang koontok masaan do 8-22 tulan misuai ko 6-12 tulun om kabaalan do mamanau miampai aiso poguhupan nopo nga koontok id sorili do 1-4 toun misuai ko 9-18 tulan.[27] 50% tangaanak tumimpuun do mamanau kahapas do 24 tulan.[28]

Kogumuan tulun miampai Sindrom Down nopo nga haro pijala' intelek di tagaan (IQ:50 - 69) toi ko' osuhatan (IQ: 35-50), om satanga nopo nga haro kobolingkangan di otongob (IQ:20-35).[15][29] Tulun di haro Sindrom Down kawo mozek koinsoruan haro IQ 10-30 miampai maraka lobi akawas mantad purata.[30] Tumanud do umul, gaang koingkawason diolo miampai tambalut tandad lobi lumaab.[29][31]

Koinsoruan, tulun di haro Sindrom Down nopo nga haro kabaalan mamarati boros di lobi akawas mantad kabaalan mimboros.[6][32] Koboros-boros koinsoruan koimbulai id sorili do 15 tulan maya purata.[12] 10-45% tulun miampai Sindrom Down haro batil toi ko' kabarasan di osiau om amu oulud, ahal diti kopogowit do kobolingkangan montok mamarati.[33] Kahapas do korikot umul 30 toun, haro ii atagakan do kabaalan mimboros.[2]

Koinsoruan do abaal yolo id kabaalan miromut.[12] Kobolingkangan kowoyowoyoon nopo nga mau kopio apangkal ko sindrom suai ii kohimpit kadau do pijala' intelek.,[29] Tangaanak di haro Sindrom Down nopo nga koimbulai o toruol mental kiikiro 30% miampai autisme id 5-10%.[34] Tulun miampai Sindrom Down nopo nga kopuriman do mogikaakawo ginua ginawo.[35] Mulong pia do kogumuan tulun miampai Sindrom Down nopo nga otood,[36] Simptom miagal ko depresi om anxiety nga koimbulai masaan do osukod.[37]

Tangaanak om nosukod miampai Sindrom Down nopo nga akawas o risiko oontok do sawan epileptik, i minogowit 5-10% do tangaanak om soginumu 50% montok nosukod.[37] Ahal diti kohimpit do kongkawason risiko kawo sawan ii roitan do infantile spasms.[12] Ogumu (15%) ii napasi 40 toun toi ko' lobi oontok do toruol Alzheimer.[38] Hinombo ii nokorikot do umul 60 toun, 50-70% haro toruol dii.[37] 

Kakasahon regresi Sindrom Down nopo nga iso kaantakan hinombo koontok o koruntuman takawas miampai simptom neuropsikiatri miagal katatonia, ii aagaga mantad toruol autoimun.[39] Koinsoruan koimbulai id tinimungan sukod wagu om nosukadan omulok.[40]

Topurimanan

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Borok Brushfield, atalang id iris do tanak miampai Sindrom Down

Kobolingkangan mokinongou om pongintangan aantakan id lobi ko satanga mantad tulun miampai Sindrom Down.[12]

  1. ↑ Faragher R, Clarke B, eds. (2013). "Introduction". Educating Learners with Down Syndrome: Research, theory, and practice with children and adolescents. Taylor & Francis. p. 5. ISBN 978-1-134-67335-3. Pinoopi mantad sanḏad ontok 2017-01-23.
  2. ↑ 2.0 2.1 Malt EA, Dahl RC, Haugsand TM, Ulvestad IH, Emilsen NM, Hansen B, et al. (February 2013). "Health and disease in adults with Down syndrome". Tidsskrift for den Norske Laegeforening. 133 (3): 290–294. doi:10.4045/tidsskr.12.0390. PMID 23381164.
  3. ↑ Hippolyte L, Iglesias K, Van der Linden M, Barisnikov K (August 2010). "Social reasoning skills in adults with Down syndrome: the role of language, executive functions and socio-emotional behaviour". Journal of Intellectual Disability Research. 54 (8): 714–726. doi:10.1111/j.1365-2788.2010.01299.x. PMID 20590998.
  4. ↑ Hammer GD (2010). "Pathophysiology of Selected Genetic Diseases". In McPhee SJ (ed.). Pathophysiology of disease: an introduction to clinical medicine (6th ed.). New York: McGraw-Hill Medical. pp. Chapter 2. ISBN 978-0-07-162167-0.
  5. ↑ Kliegma RM (2011). "Down Syndrome and Other Abnormalities of Chromosome Number". Nelson textbook of pediatrics (19th ed.). Philadelphia: Saunders. pp. Chapter 76.2. ISBN 978-1-4377-0755-7.
  6. ↑ 6.0 6.1 Hickey F, Hickey E, Summar KL (2012). "Medical update for children with Down syndrome for the pediatrician and family practitioner". Advances in Pediatrics. Elsevier BV. 59 (1): 137–157. doi:10.1016/j.yapd.2012.04.006. PMID 22789577.
  7. ↑ Johnston JM, Smyth MD, McKinstry RC (2008). "Basics of Neuroimaging in Pediatric Epilepsy". In Pellock JM, Bourgeois BF, Dodson WE, Nordli Jr DR, Sankar R (eds.). Pediatric epilepsy diagnosis and therapy (3rd ed.). New York: Demos Medical Pub. p. Chapter 67. ISBN 978-1-934559-86-4. Pinoopi mantad sanḏad ontok 2017-01-23.
  8. ↑ 8.0 8.1 8.2 8.3 8.4 8.5 8.6 8.7 Epstein CJ (2007). The consequences of chromosome imbalance: principles, mechanisms, and models. Cambridge: Cambridge University Press. pp. 255–256. ISBN 978-0-521-03809-6. Pinoopi mantad sanḏad ontok 2017-01-23. Ralat maganu:Tag <ref> tidak sah, nama "Eps2007" digunakan secara berulang dengan kandungan yang berbeza
  9. ↑ Marion RW, Samanich JN (2012). "Genetics". In Bernstein D, Shelov SP (eds.). Pediatrics for medical students (3rd ed.). Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. p. 259. ISBN 978-0-7817-7030-9. Pinoopi mantad sanḏad ontok 2017-01-23.
  10. ↑ 10.0 10.1 10.2 10.3 10.4 10.5 10.6 10.7 Hammer GD (2010). "Pathophysiology of Selected Genetic Diseases". In McPhee SJ (ed.). Pathophysiology of disease: an introduction to clinical medicine (6th ed.). New York: McGraw-Hill Medical. pp. Chapter 2. ISBN 978-0-07-162167-0.
  11. ↑ Bertoti DB, Smith DE (2008). "Mental Retardation: Focus on Down Syndrome". In Tecklin JS (ed.). Pediatric physical therapy (4th ed.). Philadelphia: Lippincott Williams & Wilkins. p. 380. ISBN 978-0-7817-5399-9. Pinoopi mantad sanḏad ontok 2017-01-23.
  12. ↑ 12.0 12.1 12.2 12.3 12.4 12.5 12.6 12.7 Hickey F, Hickey E, Summar KL (2012). "Medical update for children with Down syndrome for the pediatrician and family practitioner". Advances in Pediatrics. Elsevier BV. 59 (1): 137–157. doi:10.1016/j.yapd.2012.04.006. PMID 22789577. Ralat maganu:Tag <ref> tidak sah, nama "Hick2012" digunakan secara berulang dengan kandungan yang berbeza
  13. ↑ 13.0 13.1 13.2 Domino FJ, ed. (2007). The 5-minute clinical consult 2007 (2007 ed.). Philadelphia: Lippincott Williams & Wilkins. p. 392. ISBN 978-0-7817-6334-9. Pinoopi mantad sanḏad ontok 2017-01-23. Ralat maganu:Tag <ref> tidak sah, nama "Dom2007" digunakan secara berulang dengan kandungan yang berbeza
  14. ↑ Perkins JA (December 2009). "Overview of macroglossia and its treatment". Current Opinion in Otolaryngology & Head and Neck Surgery. 17 (6): 460–465. doi:10.1097/moo.0b013e3283317f89. PMID 19713845. S2CID 45941755.
  15. ↑ 15.0 15.1 Weijerman ME, de Winter JP (December 2010). "Clinical practice. The care of children with Down syndrome". European Journal of Pediatrics. 169 (12): 1445–1452. doi:10.1007/s00431-010-1253-0. PMC 2962780. PMID 20632187.
  16. ↑ Wilson GN, Cooley WC (2006). Preventive management of children with congenital anomalies and syndromes (2nd ed.). Cambridge: Cambridge University Press. p. 190. ISBN 978-0-521-61734-5. Pinoopi mantad sanḏad ontok 2017-01-23.
  17. ↑ Kumin L. Resource Guide to Oral Motor Skill Difficulties in Children with Down Syndrome (PDF). Loyola College of Maryland.
  18. ↑ Epstein CJ (2007). The consequences of chromosome imbalance: principles, mechanisms, and models. Cambridge: Cambridge University Press. pp. 255–256. ISBN 978-0-521-03809-6. Pinoopi mantad sanḏad ontok 2017-01-23.
  19. ↑ Domino FJ, ed. (2007). The 5-minute clinical consult 2007 (2007 ed.). Philadelphia: Lippincott Williams & Wilkins. p. 392. ISBN 978-0-7817-6334-9. Pinoopi mantad sanḏad ontok 2017-01-23.
  20. ↑ Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW, Burke LW, et al. (Council on Genetics) (May 2022). "Health Supervision for Children and Adolescents With Down Syndrome". Pediatrics. 149 (5). doi:10.1542/peds.2022-057010. PMID 35490285. S2CID 248252638.
  21. ↑ Bull MJ (June 2020). "Down Syndrome". The New England Journal of Medicine. 382 (24): 2344–2352. doi:10.1056/NEJMra1706537. PMID 32521135. S2CID 219586275.
  22. ↑ Bull MJ (June 2020). "Down Syndrome". The New England Journal of Medicine. 382 (24): 2344–2352. doi:10.1056/NEJMra1706537. PMID 32521135. S2CID 219586275.
  23. ↑ Williams Textbook of Endocrinology Expert Consult (12th ed.). London: Elsevier Health Sciences. 2011. ISBN 978-1-4377-3600-7. Pinoopi mantad sanḏad ontok 2017-01-23.
  24. ↑ Hickey F, Hickey E, Summar KL (2012). "Medical update for children with Down syndrome for the pediatrician and family practitioner". Advances in Pediatrics. Elsevier BV. 59 (1): 137–157. doi:10.1016/j.yapd.2012.04.006. PMID 22789577.
  25. ↑ Pierce M, Ramsey K, Pinter J (2 April 2019). "Trends in Obesity and Overweight in Oregon Children With Down Syndrome". Global Pediatric Health. 6: 2333794X19835640. doi:10.1177/2333794X19835640. PMC 6446252. PMID 31044152.
  26. ↑ Hickey F, Hickey E, Summar KL (2012). "Medical update for children with Down syndrome for the pediatrician and family practitioner". Advances in Pediatrics. Elsevier BV. 59 (1): 137–157. doi:10.1016/j.yapd.2012.04.006. PMID 22789577.
  27. ↑ "Early Development for Children with Down Syndrome". INHS Cambridgeshire Community Services NHS Trust. Linoyog ontok 28 March 2023.
  28. ↑ Winders P, Wolter-Warmerdam K, Hickey F (April 2019). "A schedule of gross motor development for children with Down syndrome". Journal of Intellectual Disability Research. 63 (4): 346–356. doi:10.1111/jir.12580. PMID 30575169. S2CID 58592265.
  29. ↑ 29.0 29.1 29.2 Reilly C (October 2012). "Behavioural phenotypes and special educational needs: is aetiology important in the classroom?". Journal of Intellectual Disability Research. 56 (10): 929–946. doi:10.1111/j.1365-2788.2012.01542.x. PMID 22471356. Ralat maganu:Tag <ref> tidak sah, nama "Reil2012" digunakan secara berulang dengan kandungan yang berbeza
  30. ↑ Batshaw M, ed. (2005). Children with disabilities (5th ed.). Baltimore [u.a.]: Paul H. Brookes. p. 308. ISBN 978-1-55766-581-2. Pinoopi mantad sanḏad ontok 2017-01-23.
  31. ↑ Patterson T, Rapsey CM, Glue P (April 2013). "Systematic review of cognitive development across childhood in Down syndrome: implications for treatment interventions". Journal of Intellectual Disability Research. 57 (4): 306–318. doi:10.1111/j.1365-2788.2012.01536.x. PMID 23506141.
  32. ↑ Reilly C (October 2012). "Behavioural phenotypes and special educational needs: is aetiology important in the classroom?". Journal of Intellectual Disability Research. 56 (10): 929–946. doi:10.1111/j.1365-2788.2012.01542.x. PMID 22471356.
  33. ↑ Kent RD, Vorperian HK (February 2013). "Speech impairment in Down syndrome: a review". Journal of Speech, Language, and Hearing Research. 56 (1): 178–210. doi:10.1044/1092-4388(2012/12-0148). PMC 3584188. PMID 23275397.
  34. ↑ Kliegma RM (2011). "Down Syndrome and Other Abnormalities of Chromosome Number". Nelson textbook of pediatrics (19th ed.). Philadelphia: Saunders. pp. Chapter 76.2. ISBN 978-1-4377-0755-7.
  35. ↑ McGuire D, Chicoine B (2006). Mental Wellness in Adults with Down Syndrome. Bethesday, MD: Woodbine House, Inc. p. 49. ISBN 978-1-890627-65-2.
  36. ↑ Margulies P (2007). Down syndrome (1st ed.). New York: Rosen Pub. Group. p. 5. ISBN 978-1-4042-0695-3.
  37. ↑ 37.0 37.1 37.2 Malt EA, Dahl RC, Haugsand TM, Ulvestad IH, Emilsen NM, Hansen B, et al. (February 2013). "Health and disease in adults with Down syndrome". Tidsskrift for den Norske Laegeforening. 133 (3): 290–294. doi:10.4045/tidsskr.12.0390. PMID 23381164. Ralat maganu:Tag <ref> tidak sah, nama "Malt2013" digunakan secara berulang dengan kandungan yang berbeza
  38. ↑ Schwartz MW, ed. (2012). The 5-minute pediatric consult (6th ed.). Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. p. 289. ISBN 978-1-4511-1656-4. Pinoopi mantad sanḏad ontok 2017-01-23.
  39. ↑ Santoro, Jonathan D.; Filipink, Robyn A.; Baumer, Nicole T.; Bulova, Peter D.; Handen, Benjamin L. (2023-03-01). "Down syndrome regression disorder: updates and therapeutic advances". Current Opinion in Psychiatry. 36 (2): 96–103. doi:10.1097/YCO.0000000000000845. ISSN 1473-6578. PMID 36705008.
  40. ↑ Skoto, Brian G.; Roberts, Michele (2024-02-28). "Down Syndrome". In Domino, Frank J. (ed.). The 5-Minute Clinical Consult 2025 (id boros Inggilis). Lippincott Williams & Wilkins. ISBN 978-1-9752-3473-7.
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