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Habilidades expresivas de lenguaje y comunicación social en niños con atrofia muscular espinal tipo 1
Chiara Brusa1,2, Bianca Buchignani3,4, Chiara Cutri5
1UCL Great Ormond Street Institute of Child Health, London, UK.
Developmental medicine and child neurology
|September 5, 2025
Resumen
Los niños con atrofia muscular espinal tipo 1 (SMA1) tratados con terapias pueden desarrollar habilidades verbales, aunque a menudo con retraso. Algunos también muestran dificultades de comunicación social, especialmente cuando las habilidades lingüísticas son limitadas.
Área de la Ciencia:
- Neurología pediátrica
- Pediatría del desarrollo
- La genética y las enfermedades raras
Sus antecedentes:
- La atrofia muscular espinal tipo 1 (SMA1) es un trastorno neuromuscular grave que afecta la supervivencia de las neuronas motoras.
- Las terapias modificadoras de la enfermedad han mejorado los resultados para los niños con AME1, lo que requiere la evaluación del desarrollo no motor.
- El lenguaje expresivo y la comunicación social son hitos cruciales del desarrollo afectados en los trastornos del desarrollo neurológico.
Objetivo del estudio:
- Evaluar el lenguaje expresivo y la comunicación social reportados por los padres en niños con AME1 que reciben tratamientos modificadores de la enfermedad.
- Evaluar la viabilidad del uso de herramientas estandarizadas como MB-CDI y SCQ en esta población.
- Identificar posibles desafíos en el desarrollo del lenguaje y la interacción social en pacientes con AME1 tratados.
Principales métodos:
- Estudio de viabilidad transversal realizado en centros neuromusculares especializados de Londres y Roma.
- Utilizó los inventarios de desarrollo comunicativo de MacArthur-Bates (MB-CDI) para la evaluación de la producción de vocabulario (8 meses +).
- Utilizó el cuestionario de comunicación social (SCQ) para la evaluación de la comunicación social (4 años +).
Principales resultados:
- Trece de los quince participantes (2y2m-6y9m) que utilizaron MB-CDI adquirieron habilidades verbales, aunque por debajo de los rangos normales.
- Cuatro de los treinta y siete participantes (4y0m-9y0m) que utilizaron SCQ obtuvieron una puntuación lo suficientemente alta para la evaluación de un posible trastorno del espectro autista.
- Las áreas de preocupación incluyeron rutinas / comportamientos ritualizados (14/37) e hiperreactividad sensorial (5/37); aquellos con puntuaciones verbales más bajas mostraron más problemas de comunicación social.
Conclusiones:
- Los niños con SMA1 tratados con terapias modificadoras de la enfermedad pueden lograr habilidades verbales, aunque el desarrollo puede retrasarse.
- Un subconjunto de niños tratados con AME1 presenta dificultades de comunicación social, que se correlacionan con la gravedad del lenguaje expresivo.
- Se recomiendan más evaluaciones exhaustivas del lenguaje y la comunicación social; se necesitan estudios prospectivos más amplios para caracterizar completamente estas capacidades en las poblaciones de SMA1 tratadas.
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