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Article

Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study

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Division of Child and Adolescent Neuropsychiatry, Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy
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Division of Pediatrics, Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy
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Division of Primary Care Pediatrics, Health District ASL TO4, Via Po 11, 10034 Turin, Italy
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Division of Primary Care Pediatrics, Health District ASL TO5, Piazza Silvio Pellico 1, 10023 Turin, Italy
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Division of Child and Adolescent Neuropsychiatry, Health District ASL TO5, Piazza Silvio Pellico 1, 10023 Turin, Italy
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Division of Neurology 1, Department of Neuroscience, University of Turin, 10126 Turin, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: Allan M. Glanzman
Children 2022, 9(7), 1063; https://doi.org/10.3390/children9071063
Received: 30 June 2022 / Revised: 14 July 2022 / Accepted: 14 July 2022 / Published: 17 July 2022
Innovative targeted treatments for neuromuscular disorders (NMDs) can dramatically improve the course of illness. Diagnostic delay, however, is a major impediment. Here, we present a pilot project aimed at assessing the feasibility of a screening program to identify children at high risk for NMDs within the first 30 months of life. The Promoting Early Diagnosis for Neuromuscular Disorders (PEDINE) project implemented a three-step sequential screening in an area of about 300,000 people with (1) an assessment of the motor development milestones to identify “red flags” for NMDs by primary care pediatricians (PCPs) as part of the routine Health Status Check visits; (2) for the children who screened positive, a community neuropsychiatric assessment, with further referral of suspected NMD cases to (3) a hospital-based specialized tertiary care center. In the first-year feasibility study, a total of 10,032 PCP visits were conducted, and twenty children (0.2% of the total Health Status Check visits) screened positive and were referred to the community neuropsychiatrist. Of these, four had elevated creatine kinase (CK) serum levels. This pilot study shows that screening for NMDs in primary care settings is feasible and allows children at high risk for muscular disorder to be promptly identified. View Full-Text
Keywords: neuromuscular disorders; disease modifying treatments; early diagnosis; motor development milestones; primary care pediatricians; screening; public health neuromuscular disorders; disease modifying treatments; early diagnosis; motor development milestones; primary care pediatricians; screening; public health
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MDPI and ACS Style

Ricci, F.S.; D’Alessandro, R.; Vacchetti, M.; Salvalaggio, A.; Somà, A.; Daffunchio, G.; Spada, M.; Turra, R.; Bobbio, M.; Ciuti, A.; Davico, C.; Vitiello, B.; Mongini, T.E. Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study. Children 2022, 9, 1063. https://doi.org/10.3390/children9071063

AMA Style

Ricci FS, D’Alessandro R, Vacchetti M, Salvalaggio A, Somà A, Daffunchio G, Spada M, Turra R, Bobbio M, Ciuti A, Davico C, Vitiello B, Mongini TE. Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study. Children. 2022; 9(7):1063. https://doi.org/10.3390/children9071063

Chicago/Turabian Style

Ricci, Federica S., Rossella D’Alessandro, Martina Vacchetti, Anna Salvalaggio, Alessandra Somà, Giorgia Daffunchio, Marco Spada, Renato Turra, Marisa Bobbio, Alessandro Ciuti, Chiara Davico, Benedetto Vitiello, and Tiziana E. Mongini. 2022. "Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study" Children 9, no. 7: 1063. https://doi.org/10.3390/children9071063

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