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Marina Usai

Too rare to care: a scoping review of clinical management of Multicentric Carpotarsal Osteolysis

Marina Usai1,2, Roberta Giobellina2, Irene Schiavetti3, Chiara Maria Tacchino2, Anna Bruna Ronchetti2, Marta Bertamino2, Rachele Simeon4,5,6

1 IRCCS Istituto Giannina Gaslini, Italy

2 Physical Medicine and Rehabilitation Unit, IRCCS Istituto Giannina Gaslini, Italy

3 Section of Biostatistics, Department of Health Sciences, University of Genova, Genova, Italy. AND IRCCS Ospedale Policlinico San Martino, Genova, Italy

4 Associazione Italiana di Terapia Occupazionale (AITO), Italy

5 Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health (DINOGMI), University of Genoa, Italy

6 University of Genoa, Italy

Introduction / Rationale: Multicentric Carpotarsal Osteolysis (MCTO) is a ultra-rare genetic disorder characterized by progressive osteolysis, leading severe functional impairment, and disability. Given its impact on daily life, occupational therapy is crucial in fostering independence and improving quality of life. However, there is a significant gap in research regarding effective rehabilitation strategies tailored to MCTO patients. Objectives: This review aims to identify and analyze clinical management strategies for MCTO, focusing on occupational therapy interventions. Methods / Approach: A systematic search was conducted across PubMed, Scopus, and Embase to identify relevant studies. Inclusion criteria encompassed all study designs except letters to editors, conference abstracts, reviews, meta-analyses, preclinical studies, and animal model trials. Two independent reviewers screened titles and abstracts, resolving conflicts through discussion, with a third reviewer consulted when necessary. Results / Implications: Of the 32 studies included, five addressed rehabilitation, with a limited focus on occupational therapy. One study highlighted improvements in functional independence through pain management, enabling patients to achieve new milestones in daily activities. Another study examined the role of physical therapy in managing arthropathy in three cases, while three studies described physical therapy as a supportive intervention, particularly in post-hip replacement rehabilitation. However, none provided detailed occupational therapy protocols tailored to MCTO patients. Conclusion / Significance to the occupational therapy profession: This review highlights the scarcity of research on occupational therapy for MCTO, revealing a lack of standardized assessment tools and therapeutic guidelines. Further research is needed to develop evidence-based rehabilitation protocols integrating assistive devices, environmental modifications, and tailored therapy programs to enhance participation in meaningful activities and improve quality of life.