A Scoping Review of the Recent Clinical Practice Regarding the Evaluation of Bone Mineral Density in Children and Adolescents with Neuromuscular Diseases

Introduction: Neuromuscular Diseases (NMD) are associated with decreased bone strength due to altered muscle–bone interaction. However, the evaluation of bone quality remains a certain challenge in these patients. The purpose of this scoping review is to investigate the recent literature regarding the assessment of Bone Mineral Density (BMD) in this population. Methods: An electronic search of the PubMed and Scopus database was performed considering studies published in the English literature after 2007 that evaluated BMD in pediatric and adolescent patients with NMD. We excluded studies that evaluated patients > 20 years, studies not involving humans, and studies investigating bone mineral density in various pediatric conditions, but without specific data on NMD. Results: Overall, 19 studies were included that evaluated BMD in 1983 patients with NMD. Duchenne Muscular Dystrophy was the most widely studied disease (n = 11 studies). Dual energy X-ray absorptiometry (DEXA) was the most common diagnostic modality for BMD evaluation, while the most frequent site for BMD measurement was the lumbar spine (89.4%, n = 17 studies), followed by total body BMD (68.4%, n = 13 studies). Low BMD in children with NMD was demonstrated in all studies, especially after loss of ambulation. Moreover, a positive correlation between lower BMD and older age was shown. Conclusions: BMD evaluation in NMD remains a clinical challenge, as indicated by the high heterogeneity regarding the optimal site and technique for the evaluation of bone quality in these patients. Although DXA is currently the diagnostic modality of choice, a consensus regarding the optimal site for BMD measurement, and the adjustment method for its obtained measurements for parameters such as age and height is needed.