Pien Weerkamp, Mark Voermans, Moniek Finders, Arno Brouwers, Phillipe Collins, Sylvia Klinkenburg, Jos Hendriksen. Case Report: Home initiation of nocturnal non-invasive ventilation in two adolescents with Duchenne muscular dystrophy and comorbid autism spectrum disorder and ADHD. Sec. Paediatric Critical Care. 2025, Volume 13

https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2025.1525365/full 

This case report describes how two adolescent boys with Duchenne muscular dystrophy (DMD) started using nighttime breathing support at home. DMD is neuromuscular disorder characterized by the dysfunction of the dystrophin protein, which results in a spectrum of severe clinical manifestations, including delayed motor milestones, the eventual loss of independent ambulation, and the development of life limiting cardiac and respiratory complications. Many people with DMD eventually need non-invasive ventilation (NIV) to help them breathe, especially at night. While NIV can improve both quality of life and life expectancy, introducing this treatment can be challenging, particularly for those with additional mental health and/or cognitive difficulties.

The two adolescents in this report had different neurodevelopmental and psychological conditions. One had Autism Spectrum Disorder (ASD), and the other had Attention Deficit Hyperactivity Disorder (ADHD), anxiety, and obsessive thoughts. Because these conditions can make adjusting to new medical treatments more difficult, the report highlights the importance of a multidisciplinary team that includes doctors, psychologists, and psychiatrists. This team approach helps address both the physical and non-physical challenges of starting NIV.

The first adolescent was able to begin using NIV successfully at home, benefiting from a familiar and comfortable environment. In the second case, however, the process was more complicated. A failed attempt to start NIV in the hospital, combined with a respiratory infection and emotional distress, delayed the use of the treatment. Despite these setbacks, these experiences helped the adolescent understand the importance of taking charge of his health decisions.

The report emphasises that careful planning, psychological support (with the option of add-on psychopharmacological treatment), and the involvement of both the patient and their family are key to successfully using NIV at home. By addressing neurocognitive and neuropsychological challenges early, healthcare providers can help more people with DMD feel comfortable and confident using this life-enhancing treatment. This case report also serves as a reminder that possibility of nocturnal NIV should be discussed well in advance and a plan should be drawn up and discussed to provide adequate information to empower patients to make an informed decision together with their parents.