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Síndrome de Down <br />Tópicos Selectos de Pediatría<br />MIP Diana América Chávez Cabrera<br />MIP Rodolfo Monsalvo Moren...
* Causado por la presencia de una copia de más del cromosoma 21. ( trisomia 21).<br />* Ocurre por la disyunción incomplet...
Causas<br />Trisomía libre 95 %<br />Translocación 3- 4 %<br />Mosaicismo 1- 2%<br />
Incidencia<br />El 4% de los casos es producto de una translocaciónno balanceada entre los cromosomas 13, 14 y 15.<br />
Incidencia<br /><ul><li>Frecuencia de 1/ 700 RN vivos.
60% son abortados.
20% nacen muertos.</li></li></ul><li>Pronóstico<br />La esperanza de vida al nacimiento es de 16.2 años y apenas  el 8% de...
Cuadro clínico<br />Ocurren entre un 40 y un 50% de los recién nacidos. <br />Es la causa principal de mortalidad en niños...
Defecto del tabique ventricular<br />Defecto del tabique auricular<br />
Conducto arterioso persistente<br />
* Atresia esofágica.<br />* Atresia o estenosis duodenal.<br />* Malformaciones anorrectales.<br />* Celiaquía. <br />
* Trastornos endocrinos.<br />  Hipotiroidismo<br />* Trastornos de la visión.<br />  Astigmatismo<br />  Cataratas congén...
Diagnóstico<br />Análisis de sangre para determinación de Alfa-Fetoproteína, estriol y hCG (gonadotropinacorionica humana)...
Triple marcador <br />
Diagnóstico<br />Realizar mediciones por ecografía (longitud del fémur, grosor del pliegue nucal).<br />Amniocentesis de l...
Tratamiento<br />Programas de Atención Temprana<br />Orientados a la estimulación precoz del sistema nervioso central<br /...
Tratamiento<br />Durante los 2 primeros años el Sistema Nervioso Central<br />Presenta un grado de plasticidad muy alto lo...
Actividades preventivas en niños con Sx de Down<br />
Otros problemas médicos observables en la infancia y en la población adulta en atención primaria.<br />
Intervenciones preventivas en atención primaria<br />Riquelme I, Manzanal B. Factores que influyen en el desarrollo motor ...
DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Neonatal (Birth-1 Month)<br />C...
DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Neonatal (Birth-1 Month)<br />E...
DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Infant (1-12 Months)<br />Exame...
DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Infant (1-12 Months)<br />Reali...
Perfil tiroideo anual<br />Rx lateral cervical para descartar inestabilidad atlanto-axial. <br />Radiólogo para medir  dis...
Panel de Ab’s en busca de enfermedad celíaca IgAantiendomisio y IgA total (2-3 años)<br />Preguntar a mamá sobre presencia...
Perfil tiroideo anual<br />Audimetría anual<br />Monitor para las vías respiratorias obstructivas, apnea del sueño.<br />E...
La evaluación clínica del corazón para descartar problemas de la válvula mitral/aórtica.<br />Problemas de la pubertad / s...
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Sindrome de Down, cuidados y seguimiento

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SINDROME DE DOWN
DIANA AMERICA CHAVEZ CABRERA
RODOLFO MONSALVO MORENO
HOSPITAL INFANTIL DE MEXICO FEDERICO GÓMEZ
DEPTO. CONSULTA EXTERNA

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Sindrome de Down, cuidados y seguimiento

  1. 1. Síndrome de Down <br />Tópicos Selectos de Pediatría<br />MIP Diana América Chávez Cabrera<br />MIP Rodolfo Monsalvo Moreno<br />
  2. 2. * Causado por la presencia de una copia de más del cromosoma 21. ( trisomia 21).<br />* Ocurre por la disyunción incompleta del material genético de uno de los progenitores.<br />
  3. 3. Causas<br />Trisomía libre 95 %<br />Translocación 3- 4 %<br />Mosaicismo 1- 2%<br />
  4. 4. Incidencia<br />El 4% de los casos es producto de una translocaciónno balanceada entre los cromosomas 13, 14 y 15.<br />
  5. 5. Incidencia<br /><ul><li>Frecuencia de 1/ 700 RN vivos.
  6. 6. 60% son abortados.
  7. 7. 20% nacen muertos.</li></li></ul><li>Pronóstico<br />La esperanza de vida al nacimiento es de 16.2 años y apenas el 8% de los pacientes sobreviven después de los 40 años.<br />
  8. 8. Cuadro clínico<br />Ocurren entre un 40 y un 50% de los recién nacidos. <br />Es la causa principal de mortalidad en niños con SD<br />Las mas frecuentes son:<br />Defectos del septo-auriculo-ventricular. <br />Defectos de cierre del septo-ventricular. <br />Tetralogía de fallot. <br />
  9. 9.
  10. 10. Defecto del tabique ventricular<br />Defecto del tabique auricular<br />
  11. 11. Conducto arterioso persistente<br />
  12. 12. * Atresia esofágica.<br />* Atresia o estenosis duodenal.<br />* Malformaciones anorrectales.<br />* Celiaquía. <br />
  13. 13. * Trastornos endocrinos.<br /> Hipotiroidismo<br />* Trastornos de la visión.<br /> Astigmatismo<br /> Cataratas congénitas<br /> Miopía. <br />* Trastorno de la audición.<br /> Hipoacusia<br />
  14. 14. Diagnóstico<br />Análisis de sangre para determinación de Alfa-Fetoproteína, estriol y hCG (gonadotropinacorionica humana). <br /> Datos de edad materna.<br />Antecedentes personales y familiares. <br />
  15. 15. Triple marcador <br />
  16. 16. Diagnóstico<br />Realizar mediciones por ecografía (longitud del fémur, grosor del pliegue nucal).<br />Amniocentesis de la 14-17 semana.<br />Biopsia de vellosidades corionicas de la 8-11 SDG<br />
  17. 17. Tratamiento<br />Programas de Atención Temprana<br />Orientados a la estimulación precoz del sistema nervioso central<br />Durante los seis primeros años de vida<br />
  18. 18. Tratamiento<br />Durante los 2 primeros años el Sistema Nervioso Central<br />Presenta un grado de plasticidad muy alto lo que resulta útil<br />Para potenciar mecanismos<br /> Aprendizaje Comportamiento <br /> adaptativo.<br />
  19. 19. Actividades preventivas en niños con Sx de Down<br />
  20. 20. Otros problemas médicos observables en la infancia y en la población adulta en atención primaria.<br />
  21. 21. Intervenciones preventivas en atención primaria<br />Riquelme I, Manzanal B. Factores que influyen en el desarrollo motor de los niños con síndrome de Down. Rev. Med Inter. Síndrome Down. 2006; 10 (2): 18-24<br />
  22. 22. DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Neonatal (Birth-1 Month)<br />Cariotipo cromosómico y asesoramiento genético.<br />Si hay vómito o ausencia de heces, revisar una obstrucción del tracto gastrointestinal <br />(atresia duodenal o web o la enfermedad de Hirschsprung).<br />Evaluación por cardiología (incluir ecocardiograma)<br />Profilaxis de endocarditis bacteriana subaguda - (SBE), en niños susceptibles con enfermedad cardíaca.<br />
  23. 23. DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Neonatal (Birth-1 Month)<br />Evaluación nutricional, para asegurar una ingesta adecuada de calorías.<br />Realizar periódicamente pruebas de función tiroidea (cada 6 meses)<br />Realizar tamiz auditivo para evaluar la audición neurosensorial congénita (al nacimiento o hacia los 3 meses).<br />Evaluación oftalmológica (a los 6 meses) con fines de detección oportuna de anormalidades<br />Estimulación infantil temprana (rehabilitación)<br />
  24. 24. DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Infant (1-12 Months)<br />Examen neurológico, neuromotor y musculoesquelético.<br />Pruebas de funcióntiroidea (seguimientocada 6 meses)<br />Realizarvaloraciónporcardiologíasi no se realizódurante el primer mes<br />Inmunizaciones, verificar que estén completas<br />Alimentación: verificar adecuado aporte de calorías, preguntar hábitos intestinales. <br />
  25. 25. DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Infant (1-12 Months)<br />Realizar tamiz auditivo si no se realizó al nacimiento o si se sospecha de algún daño en el aparato auditivo<br />ORL en caso de otitis media<br />Valoración por oftalmología a los 6 meses o antes si hay nistagmo, estrabismo o indicios de mala visión<br />Hacer hincapié en la importancia de la rehabilitación.<br />
  26. 26. Perfil tiroideo anual<br />Rx lateral cervical para descartar inestabilidad atlanto-axial. <br />Radiólogo para medir distancia atlantoodontoidea y el ancho del canal neural (a los 3-5 años, entonces si es necesario).<br />Examen pediátrico y neurológico con la evaluación para la compresión de la médula espinal: ROTS, la marcha, signo de Babinski y sucedáneos<br />Evaluar el crecimiento de acuerdo a las tablas de crecimiento modificadas para Sx de Down<br />Examen oftalmológico anual <br />DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Childhood (1-12 Years)<br />
  27. 27. Panel de Ab’s en busca de enfermedad celíaca IgAantiendomisio y IgA total (2-3 años)<br />Preguntar a mamá sobre presencia de apnea obstructiva del sueño, examen ORL (según sea necesario).<br />Examen Dental (2 años, exámenes de seguimiento cada 6 meses después). <br />Recomendación: Cepillarse 2/3 veces al día<br />Examen de genitales.<br />Evaluación del habla y del discurso.<br />DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Childhood (1-12 Years)<br />
  28. 28. Perfil tiroideo anual<br />Audimetría anual<br />Monitor para las vías respiratorias obstructivas, apnea del sueño.<br />Examen general físico y neurológico<br />Examen oftalmológico (anualmente).<br />Monitor de la obesidad mediante el trazado de la altura para el peso de las tablas de crecimiento para los niños típicos<br />DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Adolescence (12-18 Years)<br />
  29. 29. La evaluación clínica del corazón para descartar problemas de la válvula mitral/aórtica.<br />Problemas de la pubertad / sexualidad, la educación sanitaria, prevención del abuso y la sexualidad. <br />Examen pélvico (sólo si es sexualmente activa).<br />Alimentación: Bajas en calorías, dieta alta en fibra, ejercicio regular<br />Educación fumadores, drogas y alcohol.<br />Supervisar grado de independencia.<br />DOWN SYNDROME HEALTH CARE GUIDELINES (Based on 1999 Down Syndrome Health Care Guidelines)* Adolescence (12-18 Years)<br />
  30. 30. FIN!!<br />

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