{"id":324,"date":"2026-02-03T13:53:49","date_gmt":"2026-02-03T12:53:49","guid":{"rendered":"https:\/\/www.ampnee.org\/blog\/?p=324"},"modified":"2026-02-03T13:53:50","modified_gmt":"2026-02-03T12:53:50","slug":"sindrome-de-pitt-hopkins","status":"publish","type":"post","link":"https:\/\/www.ampnee.org\/blog\/sindrome-de-pitt-hopkins\/","title":{"rendered":"S\u00cdNDROME DE PITT-HOPKINS"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Se trata de un trastorno gen\u00e9tico poco frecuente del neurodesarrollo causado por la haploinsuficiencia del gen TCF4 (p\u00e9rdida de funci\u00f3n de una copia de este gen).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">En los individuos que presentan este diagn\u00f3stico, se observa un retraso global del desarrollo con discapacidad intelectual moderada o severa, con un lenguaje muy limitado o ausente (Whalen <em>et al.<\/em>, 2023).&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Por otro lado, entre sus caracter\u00edsticas faciales y som\u00e1ticas nos encontramos (\u00cdbidem):<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Puente nasal ancho y punta nasal prominente<\/li>\n\n\n\n<li>Boca ancha, labios gruesos<\/li>\n\n\n\n<li>Orejas prominentes<\/li>\n\n\n\n<li>Microcefalia postnatal<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Asimismo, presentan anomal\u00edas respiratorias vinculadas a episodios de hiperventilaci\u00f3n intermitente seguidos de apnea (pausas respiratorias). Son t\u00edpicos y aparecen sobre todo durante la infancia, etapa en la que tambi\u00e9n pueden aparecer crisis epil\u00e9pticas presentes en el 30-50% de los casos&nbsp; (\u00cdbidem).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Respecto a sus rasgos conductuales y f\u00edsicos, se puede observar (\u00cdbidem):<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Problemas gastrointestinales (estre\u00f1imiento frecuente).<\/li>\n\n\n\n<li>Movimientos estereotipados.<\/li>\n\n\n\n<li>Rasgos del espectro autista y problemas de conducta.<\/li>\n\n\n\n<li>Problemas visuales como miop\u00eda o estrabismo.<\/li>\n\n\n\n<li>Marcha inestable o tard\u00eda.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Finalmente, no existe una cura para este s\u00edndrome, aunque se puede realizar intervenciones m\u00e9dicas y terap\u00e9uticas como (\u00cdbidem):<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Logopedia para el desarrollo del lenguaje y adaptaci\u00f3n de un SAAC.<\/li>\n\n\n\n<li>Psicolog\u00eda para problemas emocionales y funciones ejecutivas, as\u00ed como para la comunicaci\u00f3n.<\/li>\n\n\n\n<li>Fisioterapia y terapia ocupacional para la marcha y movilidad del cuerpo.\u00a0<\/li>\n\n\n\n<li>Tratamiento para la epilepsia.\u00a0<\/li>\n\n\n\n<li>Apoyo respiratorio y nutricional.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Referencias bibliogr\u00e1ficas:<\/strong>Whalen, S., H\u00e9ron, D., &amp; Zweier, C. (2023). Pitt-Hopkins syndrome. En M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, &amp; A. Amemiya (Eds.), <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK100240\/\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK100240\/<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Se trata de un trastorno gen\u00e9tico poco frecuente del neurodesarrollo causado por la haploinsuficiencia del gen TCF4 (p\u00e9rdida de funci\u00f3n de una copia de este &hellip; <\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-324","post","type-post","status-publish","format-standard","hentry","category-sin-categoria"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>S\u00cdNDROME DE PITT-HOPKINS - EL RINC\u00d3N DE AMPNEE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.ampnee.org\/blog\/sindrome-de-pitt-hopkins\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"S\u00cdNDROME DE PITT-HOPKINS - 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