The endocrinological aspects of Down's syndrome
Abstract
The article considers the role of the endocrinologist in the treatment of patients with Down syndrome. Particular attention is paid to the diagnosis and therapy, an integrated approach to the treatment of complex patients taking into account features of the disease.
About the Author
A. V. Vitebskaya
I.M. Sechenov First MSMU
Russian Federation
Russian Federation
head of Children's endocrinology department of the University
Children's Hospital
1–3/19 B. Pirogovskaya str., Moscow, 119435
8 (499) 248–64–79
References
1. Down J.L. Observations on an Ethnic Classifi cation of Idiots // London Hospital Reports. 1866;3:259-62. Lejeune J., Gautier M., Turpin R. Study of somatic chromosomes from 9 mongoloid children // C R Hebd Seances Acad Sci. 1959;248:1721–2.
2. Bulgakova A.I., Groznaya N.S. Jerome Lejeune: gospel about life // Sindrom Dauna. XXI vek. 2009; 2(3): 3–4.
3. McCormick M.K, Schinzel A., Petersen M.B. et all. Molecular genetic approach to the characterization of the «Down syndrome region» of chromosome 21 // Genomics.1989;5:325–31.
4. Korenberg J.R., Kawashima H., Pulst S.M. et all. Molecular defi nition of a region of chromosome 21 that causes features of the Down syndrome phenotype // Am J Hum Genet. 1990;47:236–246.
5. Delabar J.M., Theophile D., Rahmani Z. et all. Molecular mapping of twenty-four features of Down syndrome on chromosome 21 // Eur J Hum Genet. 1993;1:114–24.
6. Rigina N.F. Who are you, Doctor Down? // Sindrom Dauna. XXI vek. 2010; 1(4): 3-8.
7. Irving C., Basu A., Richmond S. et all. Twenty-year trends in prevalence and survival of Down syndrome // Eur J Hum Genet. 2008 Nov;16(11):1336-40. doi: 10.1038/ejhg.2008.122. Epub 2008 Jul 2.
8. Weij erman M.E., Winter J.P. The care of children with Down syndrome // Eur J Pediatr. 2010 Dec;169(12):1445- 52. doi: 10.1007/s00431-010-1253-0. Epub 2010 Jul 15.
9. Weij erman M.E., van Furth A.M., Vonk Noordegraaf A. et al. Prevalence, neonatal characteristics and fi rst-year mortality of Down syndrome: a national study // J Pediatr. 2008 Jan;152(1):15-9. Epub 2007 Nov 19.
10. Yang Q., Rasmussen S.A., Friedma J.M. Mortality associated with Down’s syndrome in the USA from 1983 to 1997: a population-based study // Lancet. 2002 Mar 23;359(9311):1019-25.
11. Cremers M.J., van der Twee I., Boersma B. et al. Growth curves of Dutch children with Down syndrome // J Intellect Disabil Res. 1996 Oct;40 ( Pt 5):412-20.
12. Cronk C., Crocker A.C., Pueschel S.M. et al. Growth charts for children with Down syndrome: 1 month to 18 years of age // Pediatrics. 1988 Jan;81(1):102-10.
13. Annerén G., Tuvemo T., Carlsson-Skwirut C. et al. Growth hormone treatment in young children with Down's syndrome: eff ects on growth and psychomotor development // Arch Dis Child. 1999 Apr;80(4):334-8.
14. Annerén G., Tuvemo T., Gustafsson J. Growth hormone therapy in young children with Down syndrome and a clinical comparison of Down and Prader-Willi syndromes // Growth Horm IGF Res. 2000 Apr;10 Suppl B:S87-91.
15. Roizen N.J., Patterson D. Down’s syndrome // Lancet. 2003 Apr 12;361(9365):1281-9.
16. Kishnani P.S., Crissman B.G. Special issue: current perspectives on Down syndrome: selected medical and social issues // Am J Med Genet C Semin Med Genet. 2006 Aug 15;142C(3):127-30.
17. Gibson P.A., Newton R.W., Selby K. et al. Longitudinal study of thyroid function in Down’s syndrome in the fi rst two decades // Arch Dis Child. 2005 Jun;90(6):574-8.
18. Unachak K., Tanpaiboon P., Yupada Pongprot Y. et al. Thyroid functions in children with Down’s syndrome // J Med Assoc Thai 91:56–61.
19. Chubarova A.I., Semenova N.A., Rumyantseva V.A. Thyroid disease in children with Down syndrome // Sindrom Dauna. XXI vek. 2010; 1(4): 9-12.
20. Meyerovitch J., Antebi F., Greenberg-Dotan S., Bar-Tal O., Hochberg Z. Hyperthyrotropinaemia in untreated subjects with Down's syndrome aged 6 months to 64 years: a comparative analysis // Arch Dis Child. 2012 Jul;97(7):595-8.
21. Jankowicz-Szymanska A., Mikolajczyk E., Wojtanowski W. The eff ect of the degree of disability on nutritional status and fl at feet in adolescents with Down syndrome // Res Dev Disabil. 2013 Nov;34(11):3686-90. doi: 10.1016/j.ridd.2013.08.016. Epub 2013 Sep 5.
22. Izquierdo-Gomez R., Martínez-Gómez D., Tejero-Gonzalez C.M. et all. Are poor physical fi tness and obesity two features of the adolescent with Down syndrome? // Nutr Hosp. 2013 Jul-Aug;28(4):1348-51. doi: 10.3305/nh.2013.28.4.6566.
23. Aitken R.J., Mehers K.L., Williams A.J. et all. Early-onset, coexisting autoimmunity and decreased HLA-mediated susceptibility are the characteristics of diabetes in Down syndrome // Diabetes Care. 2013 May; 36(5):1181-5. doi: 10.2337/dc12-1712. Epub 2012 Dec 28.
24. Semenova N.A. Let’s take care of health! // Vestnik Daunside Up. Sdelaj shag. 2001; 2(43).
25. Chubarova A.I., Semenova N.A., Katyukhina A.V. Medical follow-up of adults with Down syndrome // Sindrom Dauna. XXI vek. 2011; 1(6): 11-5.
26. Chubarova A.I., Semenova N.A., Katyukhina A.V. Medical supervision for a child with Down syndrome. Experience of foreign countries // Sindrom Dauna. XXI vek. 2010; 2(5): 11–3.
27. Wexler I.D., Abu-Libdeh A., Kastiel Y. et al. Optimizing health care for individuals with Down syndrome in Israel // The Israel Medical Association Journal. 2009. Nov; 11(11):655–9.
28. Bull M.J., Saal H.M., Braddock S.R. et all.; Committee on Genetics from the American Academy of Pediatrics. Health supervision for children with Down syndrome // Pediatrics. 2011 Aug;128(2):393-406. doi: 10.1542/peds.2011-1605. Epub 2011 Jul 25.
29. Van Cleve S.N., Cohen W.I. Clinical Practice Guidelines with Down Syndrome from birth to 12 years // J Pediatr Health Care. 2006 Jan-Feb;20(1):47-54.
30. Smith D.S. Health Care Management of Adults with Down Syndrome // Am Fam Physician. 2001 Sep 15;64(6):1031-8.
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