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Updated: Jan 20, 2026

Author Spotlight: Developing a Safer and More Efficient Treatment Protocol for Wasting Marmoset Syndrome (WMS)
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Conocimiento, apoyo y redes de contactos para el síndrome de Phelan-McDermid: un protocolo de estudio

Luca Colnaghi1,2, Giulia Villa3, Ilaria Marcomini3

  • 1Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.

MethodsX
|January 19, 2026
PubMed
Resumen

La atención del síndrome de Phelan-McDermid (SPM) en Italia está fragmentada. Este estudio involucra a los cuidadores para comprender las necesidades y desarrollar un registro nacional para un apoyo mejor y equitativo.

Palabras clave:
Cuidadores informalesRegistro nacional de enfermedadesInvestigación participativaSíndrome de Phelan-McDermidEnfermedades raras

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Área de la Ciencia:

  • Genética y Enfermedades Raras; Trastornos del Neurodesarrollo; Apoyo al Cuidador

Sus antecedentes:

  • El síndrome de Phelan-McDermid (SPM) es un trastorno del neurodesarrollo raro asociado con deleciones en 22q13.3 del cromosoma o variantes del gen SHANK3.
  • Las personas afectadas experimentan discapacidad intelectual, rasgos autistas, convulsiones y otros problemas de salud, lo que requiere atención multidisciplinaria de por vida.
  • La atención actual del SPM en Italia está fragmentada, lo que supone una carga considerable para las familias.

Objetivo del estudio:

  • Explorar las experiencias y necesidades insatisfechas de los cuidadores informales de personas con SPM en Italia.
  • Recopilar datos para establecer el primer registro nacional italiano de SPM.
  • Informar el desarrollo de un mapa de servicios para una atención coordinada y equitativa del SPM.

Principales métodos:

  • Un estudio nacional participativo de Ciencia Ciudadana que involucra a cuidadores informales de personas con SPM genéticamente confirmado.
  • Fase cualitativa utilizando entrevistas en línea semiestructuradas para investigar los desafíos del cuidado, las necesidades y los mecanismos de afrontamiento.
  • Los datos recopilados informarán la creación de un registro longitudinal.

Principales resultados:

  • Evidencia novedosa sobre las necesidades y desafíos específicos que enfrentan los cuidadores italianos de SPM.
  • Establecimiento del primer registro nacional de SPM en Italia.
  • Desarrollo de un mapa de servicios para guiar la coordinación de la atención y el apoyo.

Conclusiones:

  • Abordar las necesidades de los cuidadores es crucial para mejorar la atención del síndrome de Phelan-McDermid.
  • Un registro nacional y un mapa de servicios pueden mejorar la equidad y la coordinación de la atención.
  • Fortalecer la red nacional de cuidadores es esencial para las familias afectadas por el SPM.