Living with Arnold-Chiari malformation: A qualitative descriptive study of quality of life

Arnold-Chiari malformation (ACM) is a rare congenital disorder affecting the cranio-cervical junction. It is characterized by symptoms related to the cerebellum, bulbar region, and medulla, often accompanied by hydrocephalus. These symptoms can profoundly affect the daily lives of individuals with ACM, significantly reducing their quality of life (QoL).

To explore the experiences of individuals with ACM across various aspects of daily life and their impact on perceived QoL.

A descriptive qualitative study was conducted in Spain using a convenience sampling approach. In 2025, data were collected through in-depth, semi-structured interviews with open-ended questions involving 14 participants (n = 14). Interviews were conducted either in person or online, audio-recorded with participants' consent, and transcribed verbatim. Data were analyzed using thematic analysis, following an inductive process of coding, categorization, and theme development to ensure methodological rigor and credibility.

Fourteen participants with type I ACM (79% women; mean age: 50.5 years) were interviewed. Most had undergone surgery, and half had lived with the diagnosis for more than 10 years. The mean self-reported QoL score was 6.71/10. Five main themes emerged: diagnostic journey, symptoms, impact on QoL, treatment experiences, and coping strategies/support networks.

This study underscores the urgent need for more accessible, compassionate, and specialized healthcare for individuals with ACM. Key obstacles include delays in diagnosis, limited clinical knowledge, and insufficient follow-up care. Enhancing the training of healthcare professionals and implementing specific care protocols are essential. In addition, greater institutional support and recognition within public policy are crucial for improving the QoL of individuals living with this condition.