2008, Number 4
<< Back Next >>
Bol Med Hosp Infant Mex 2008; 65 (4)
Experience in the application of the American Academy of Pediatrics’ “Guidelines for health supervision for children with Down syndrome” in the Department of Genetics at a University Hospital
Hernández-Almaguer D, Martínez-de Villarreal L, Arteaga-Alcaraz G, Elizondo-Cárdenas G, Esmer-Sánchez MC
Language: Spanish
References: 20
Page: 261-268
PDF size: 137.45 Kb.
ABSTRACT
Introduction. Objective: To evaluate the application of the American Academy of Pediatrics’ “Guidelines for health supervision for children with Down syndrome” in the Department of Genetics at the Hospital Universitario “Dr. José Eleuterio González”.
Methods. We analyzed clinical files from all Down’s syndrome patients who attended our Department of Genetics from April 2004 to April 2006.
Results. Thirty-eight cases were identified. The rank of mothers’ age at date of infant birth was 17-43 years old; 74% of the patients had a karyotype performed, but genetic counseling was given only to 61% of families. An echocardiogram was performed; congenital heart disease was detected in 26%, but 56% did not attend the cardiologist consultation even when some of them had clinical findings suggesting heart disease. At the end of the study, the highest number of consultations was 5; however, 44% of the patients had no follow-up.
Conclusions. We found a significant lack of commitment to follow-up patients by care givers, and a delay to accomplish clinical studies to avoid the well-known complications associated to this syndrome.
REFERENCES
Morales JJ, Luna L, Mutchinick O. Epidemiología de las malformaciones congénitas. En: Guízar-Vázquez J. Genética clínica. Diagnóstico y manejo de las enfermedades hereditarias. México D. F.: El Manual Moderno; 2001.
Gardner RJM, Sutherland G. Chromosome abnormalities and genetic counseling. 3rd ed. New York: Oxford University Press; 2004. p. 122-37.
O´Conor W. John Langdon Down: The man and the message. Downs Syndr Res Pract. 1999; 6: 19-24.
Centro Nacional de Equidad de Género y Salud Reproductiva. Atención integral de la persona con síndrome de Down. México: Secretaría de Salud. Lineamiento técnico; 2007.
Rogers P, Coleman M, Part II: Preventive Medicine by Age Groups. En: Medical care in Down syndrome: A preventive medicine approach. New York: Marcel Deker Inc.;1992. p. 71-142.
Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2001; 107: 442-9.
Cohen W. Health Care Guidelines for individuals with Down syndrome. Downs Syndr Quarterly. 1999; 4: 1-16.
Roizen N. Terapias complementarias y alternativas para el síndrome de Down. Rev SD. 2005; 22: 93-105.
Van Allen M, Fung J, Jurenka S. Health care concerns and guidelines for adults with Down syndrome. Am J Med Genet. 1999; 89: 100-10.
Bittles AH, Bower C, Hussain R, Glasson EJ. The four ages of Down syndrome. Eur J Public Health. 2007; 17: 221-5.
Smith DS. Health care management of adults with Down syndrome. Am Fam Physician. 2001; 64: 1031-8.
Rosas-Blum E, Shirsat P, Leiner M. Communicating genetic information: a difficult challenge for future pediatricians. BMC Med Educ. 2007; 7: 17.
Rubens-Figueroa J, del Pozzo-Magaña B, Pablos-Hach JL, Calderón-Jiménez C, Castrejón-Urbina R. Heart malformations in children with Down syndrome. Rev Esp Cardiol. 2003; 56: 894-9.
Vela-Amieva M, Gamboa-Cardiel S, Pérez-Andrade ME, Ortiz-Cortés J, González-Contreras CR, Ortega-Velázquez V. Epidemiología del hipotiroidismo congénito en México. Salud Publica Mex. 2004; 46: 141-8.
Chistiakov D. Down syndrome and coexistent autoimmune diseases. J Appl Biomed. 2007; 5: 71-6.
Karlsson B, Gustafsson J, Hedov G, Ivarsson SA, Annerén G. Thyroid dysfunction in Down’s syndrome: relation to age and thyroid autoimmunity. Arch Dis Child. 1998; 79: 242-5.
Morton RE, Khan MA, Murray-Leslie C, Elliott S. Atlantoaxial instability in Down’s syndrome: a five year follow up study. Arch Dis Child.1995; 72: 115-9.
Roy M, Baxter M, Roy A. Atlantoaxial instability in Down syndrome–guidelines for screening and detection. J Royal Soc Med. 1990; 83: 433-5.
Leshin L. 2008. Disponible en: http://www.ds-health.com/clinics2.htm.
Jones K. Down syndrome. Smith’s recognizable patterns of human malformation. 6th ed. La Joya, California: Ed. Elsevier Saunders; 2006. p. 7-12.