Literature & Academic Research

Our work is continually informed by current research. We actively stay up to date with emerging evidence to ensure the supports we provide reflect the latest knowledge across a wide range of areas, including best practice care for neuromuscular conditions, the impact of Duchenne Muscular Dystrophy (DMD) on the brain, and the psychosocial wellbeing of young people, particularly in relation to anxiety and emotional regulation.

This ongoing engagement with research also strengthens our work in building capacity for autonomy and quality of life, and deepens our understanding of dystrophinopathies in girls and individuals with Becker Muscular Dystrophy. We also draw on evolving evidence around genetic mutations and phenotypic variation in DMD, allowing us to tailor our services to each individual.

By keeping pace with the latest developments, we ensure our services, programs, and resources remain evidence-informed and responsive, supporting the way we work alongside families, schools, and the wider support network.

    • Darmahkasih, A. J., Rybalsky, I., Tian, C., Shellenbarger, K. C., … Wong, B. L. (2020). Neurodevelopmental, behavioral, and emotional symptoms common in Duchenne muscular dystrophy. Muscle & Nerve, 61(4), 466–474.

    • Duan, D., Goemans, N., Takeda, S. I., Mercuri, E., … Aartsma-Rus, A. (2021). Duchenne muscular dystrophy. Nature Reviews Disease Primers, 7(1), 13.

    • Hendriksen, J. G. M., & Vles, J. S. H. (2008). Neuropsychiatric disorders in males with Duchenne muscular dystrophy: Frequency rate of attention-deficit hyperactivity disorder, autism spectrum disorder, and obsessive–compulsive disorder. Journal of Child Neurology, 23(5), 477–481.

    • Vaillend, C., Aoki, Y., Mercuri, E., Hendriksen, J., … Muntoni, F. (2025). Duchenne muscular dystrophy: Recent insights in brain related comorbidities. Nature Communications, 16, 1298.

    • Bever, A., Audhya, I., Szabo, S. M., Mickle, A., … Gooch, K. (2024). “You take this day by day, come what may”: A qualitative study of the psychosocial impacts of living with Duchenne muscular dystrophy. Advances in Therapy, 41, 2460–2476.

    • Colvin, M. K., Poysky, J., Kinnett, K., Damiani, M., … Weidner, N. (2018). Psychosocial management of the patient with Duchenne muscular dystrophy. Pediatrics, 142(Supplement 2), S99–S109.

    • Hoskin, J., James, B., & Finch, J. (2024). ‘More than just a physical condition’ – recognising the educational and emotional needs of children and young adults with Duchenne muscular dystrophy. European Journal of Special Needs Education.

    • Travlos, V., Patman, S., Wilson, A., Simcock, G., … Downs, J. (2017). Quality of life and psychosocial well-being in youth with neuromuscular disorders who are wheelchair users: A systematic review. Archives of Physical Medicine and Rehabilitation, 98(5), 1004–1017.

    • Trimmer, R. E., Mandy, W. P. L., Muntoni, F., & Maresh, K. E. (2024). Understanding anxiety experienced by young males with Duchenne muscular dystrophy: A qualitative focus group study. Neuromuscular Disorders, 34(2), 95–104.

    • Porteous, D., Davies, B., English, C., & Atkinson, J. (2021). An integrative review exploring psycho-social impacts and therapeutic interventions for parent caregivers of young people living with Duchenne’s muscular dystrophy. Children, 8(3), 212.

    • Magliano, L., D’Angelo, M. G., Vita, G., Pane, M., … Politano, L. (2014). Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: An Italian comparative study. Acta Myologica, 33, 136–143.

    • Read, J., Kinali, M., Muntoni, F., & Garralda, M. E. (2010). Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy. European Journal of Paediatric Neurology, 14(4), 340–348.

    • Ishizaki, M., Kobayashi, M., Adachi, K., Matsumura, T., … Kimura, E. (2018). Female dystrophinopathy: Review of current literature. Neuromuscular Disorders, 28(7–8), 572–581.

    • Lee, S. H., Lee, J. H., Lee, K. A., & Choi, Y. C. (2015). Clinical and genetic characterization of female dystrophinopathy. Journal of Clinical Neurology, 11(3), 248–251.

    • Seemann, N., Selby, K., McAdam, L., Biggar, D., … Campbell, C. (2011). Symptomatic dystrophinopathies in female children. Neuromuscular Disorders, 21(2), 172–177.

    • Capitanio, D., Moriggi, M., Torretta, E., Barbacini, P., … Gelfi, C. (2020). Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: Changes contributing to preserve muscle function in Becker muscular dystrophy patients. Journal of Cachexia, Sarcopenia and Muscle, 11(2), 547–563.

    • Ferrero, A., & Rossi, M. (2022). Cognitive profile and neuropsychiatric disorders in Becker muscular dystrophy: A systematic review of literature. Neuroscience & Biobehavioural Reviews, 137, 104648.