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An overview and update regarding medical problems in down syndrome

  • Symposium on Neurodevelopmental Disorders—III
  • Published:
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Abstract

Down syndrome is the commonest occuring syndrome, and because of the high risk of congenital heart disease, these children are frequently seen at cardiology clinics and wards. However, these individuals are also likely to have a variety of other-problems, both congenital and acquired, which may impinge on the medical and surgical management of cardiac problems. It is therefore important for the paediatric cardiology community to maintain a minimum level of expertise in other noncardiac aspects of the syndrome. This paper reviews Down syndrome, lists congenital and acquire disorders that may occur, and briefly addresses recent advances in the understanding of this condition.

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References

  1. Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population-based registry.Am J Med Genet 1998; 77: 431–438.

    Article  PubMed  CAS  Google Scholar 

  2. Du ZD, Roguin N, Wu XJ. Spontaneous closure of muscular ventricular septal defect identified by echocardiography in neonates.Cardiol Young 1998; 8: 500–505.

    PubMed  CAS  Google Scholar 

  3. Health supervision for children with Down syndrome. American Academy of Pediatrics Committee on Genetics.Pediatrics 1994; 93: 855–859.

    Google Scholar 

  4. Cronk C, Crocker AC, Pueschel SM, Shea AM, Zackai E, Pickens Get al. Growth charts for children with Down syndrome: 1 month to 18 years of age.Pediatrics 1988; 81: 102–110.

    PubMed  CAS  Google Scholar 

  5. Young GP, Taylor AS. Conversion of paroxysmal supraventricular tachycardia in a child with a slow verapamil infusion: case report and literature review.Am J Emerg Med 1991; 9: 603–608.

    Article  PubMed  CAS  Google Scholar 

  6. Alexi-Meskishvili V, Ishino K, Dahnert I, Uhlemann F, Weng Y, Lange PEet al. Correction of complete atrioventricular septal defects with the double-patch technique and cleft closure.Ann Thorac Surg 1996; 62: 519–525.

    Article  PubMed  CAS  Google Scholar 

  7. Donders GG, Delport SD, Potze F. Isolated complete congenital heart block diagnosed prenatally in Down’s syndrome; a case report.Eur J Obstet Gynecol Reprod Biol 1989; 31: 283–287.

    Article  PubMed  CAS  Google Scholar 

  8. Murdoch JC, Rodger JC, Rao SS, Fletcher CD, Dunnigan MG. Down’s syndrome: an atheroma-free model?Br Med J 1977; 2: 226–228.

    PubMed  CAS  Google Scholar 

  9. Pueschel SM, Craig WY, Haddow JE. Lipids and lipoproteins in persons with Down’s syndrome.J Intellect Disabil Res 1992; 36: 365–369.

    Article  PubMed  Google Scholar 

  10. Prasher VP. Down syndrome and thyroid disorders: a review.Downs Syndr Res Pract 1999; 6: 25–42.

    Article  PubMed  CAS  Google Scholar 

  11. Anwar AJ, Walker JD, Frier BM. Type 1 diabetes mellitus and Down’s syndrome: prevalence management and diabetic complications.Diabet Med 1998; 15: 160–163.

    Article  PubMed  CAS  Google Scholar 

  12. Angelopoulou N, Souftas V, Sakadamis A, Matziari C, Papameletiou V, Mandroukas K. Gonadal function in young women with Down syndrome.Int J Gynaecol Obstet 1999; 67: 15–21.

    Article  PubMed  CAS  Google Scholar 

  13. Anneren G, Tuvemo T, Carlsson-Skwirut C, Lonnerholm T, Bang P, Sara VRet al. Growth hormone treatment in young children with Down’s syndrome: effects on growth and psychomotor development.Arch Dis Child 1999; 80: 334–338.

    PubMed  CAS  Google Scholar 

  14. Heggarty HJ, Ball R, Smith M, Henderson MJ. Amino acid profile in Down’s syndrome.Arch Dis Child 1996; 74: 347–349.

    PubMed  CAS  Google Scholar 

  15. Smith DJ, Rubin EM. Functional screening and complex traits: human 21q22.2 sequences affecting learning in mice.Hum Mol Genet 1997; 6: 1729–1733.

    Article  PubMed  CAS  Google Scholar 

  16. Collacott RA, Cooper SA, Branford D, McGrother C. Behaviour phenotype for Down’s syndrome.Br J Psychiatry 1998; 172: 85–89.

    Article  PubMed  CAS  Google Scholar 

  17. Jovanovic SV, Clements D, MacLeod K. Biomarkers of oxidative stress are significantly elevated in Down syndrome.Free Radic Biol Med 1998; 25: 1044–1048.

    Article  PubMed  CAS  Google Scholar 

  18. Kishnani PS, Sullivan JA, Walter BK, Spiridigliozzi GA, Doraiswamy PM, Krishnan KR. Cholinergic therapy for Down’s syndrome.Lancet 1999; 353: 1064–1065.

    Article  PubMed  CAS  Google Scholar 

  19. Stafstrom CE. Epilepsy in Down syndrome: Clinical aspects and possible mechanisms.Am J Mental Retard 1993; 98 (suppl): 12–26.

    Google Scholar 

  20. Peuschel SM, Scola FH. Atlantoaxial instability in individuals with Down syndrome: epidemiologic, radiographic, and clinical studies.Pediatrics 1987; 80: 555–560.

    Google Scholar 

  21. American Academy of Pediatrics Committee on Sports Medicine and Fitness. Atlantoaxial instability in Down syndrome: subject review.Pediatrics 1995; 96: 151–154.

    Google Scholar 

  22. George EK, Mearin ML, Bouquet J, von Blomberg BM, Stapel SO, van Elburg RMet al. High frequency of celiac disease in Down syndrome.J PeDown Syndrome 1996; 128: 555–557.

    CAS  Google Scholar 

  23. Carlsson A, Axelsson I, Borulf S, Bredberg A, Forslund M, Lindberg Bet al. Prevalence of IGA-antigliadin antibodies and IgA-antiendomysium antibodies related to celiac disease in children with Down syndrome.Pediatrics 1998; 101: 272–275.

    Article  PubMed  CAS  Google Scholar 

  24. Failla P, Barone C, Pettinato R, Ramano C. IgG antibodies to beta-lactoglobulin and cow’s milk protein intolerance in Down syndrome.Down Syndr Res Pract 1998; 5: 120–122.

    Article  Google Scholar 

  25. Mazzoni DS, Ackley RS, Nash DJ. Abnormal pinna type and hearing loss correlations with Down’s syndrome.J Intellect Disabil Res 1994; 38: 549–560.

    Article  PubMed  Google Scholar 

  26. Marcus CL, Keens TG, Bautista DB, von Pechmann WS, Ward SL. Obstructive sleep apnea in children with Down syndrome.Pediatrics 1991; 88: 132–139.

    PubMed  CAS  Google Scholar 

  27. Goldstein NA, Armfield DR, Kingsley LA, Borland LM, Allen GC, Post JC. Postoperative complications after tonsillectomy and adenoidectomy in children with Down syndrome.Arch Otolaryngol Head Neck Surg 1998; 124: 171–176.

    PubMed  CAS  Google Scholar 

  28. Lino Y, Imamura Y, Harigai S, Tanaka Y. Efficacy of tympanostomy tube insertion for otitis media with effusion in children with Down syndrome.Int J Pediatr Otorhinolaryngol 1999; 49: 143–149.

    Article  Google Scholar 

  29. Leonard S, Bower C, Petterson B, Leonard H. Medical aspects of school-aged children with Down syndrome.Dev Med Child Neurol 1999; 41: 683–688.

    Article  PubMed  CAS  Google Scholar 

  30. Fong CT, Brodeur GM. Down’s syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis.Cancer Genet Cytogenet 1987; 28: 55–76.

    Article  PubMed  CAS  Google Scholar 

  31. Li Volti S, Mattina T, Mauro L, Bianca S, Anfuso S, Ursino Aet al. Safety and effectiveness of an acellular pertussis vaccine in subjects with Down’s syndrome.ChilDown Syndrome Nerv Syst 1996; 12: 100–102.

    Article  Google Scholar 

  32. Olbrisch RR. Plastic and aesthetic surgery on children with Down’s syndrome.Aesth Plast Surg 1985; 9: 241–248.

    Article  CAS  Google Scholar 

  33. Pueschel SM, Montiero LA, Erickson M. Parents and physicians’ perceptions of facial plastic surgery in children with Down’s syndrome.J Mental Defic Research 1986; 30: 71–79.

    Google Scholar 

  34. Frohlich C, Prokop O. Die Zellular-therapie. In O. Prokop, ed.Medizinischer Okkultismus. New York; Gustav Fischer Verlag, 1977; 153–174.

    Google Scholar 

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Grech, V. An overview and update regarding medical problems in down syndrome. Indian J Pediatr 68, 863–866 (2001). https://doi.org/10.1007/BF02762114

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  • DOI: https://doi.org/10.1007/BF02762114

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