{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:56:13Z","timestamp":1781657773460,"version":"3.54.5"},"reference-count":34,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,11]],"date-time":"2020-05-11T00:00:00Z","timestamp":1589155200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate ultrasound features of diaphragm motion and function in type 1 spinal muscular atrophy (SMA\u20101) patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Prospective study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients<\/jats:title><jats:p>The study cohort included SMA\u20101 children younger than 18\u2010year\u2010old. Control subjects included type 2 and type 3 SMA and other neuromuscular disorders younger than 18\u2010year\u2010old.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methodology<\/jats:title><jats:p>Diaphragm ultrasound evaluating diaphragmatic excursion, speed of diaphragmatic contraction, duration of the respiratory cycle, inspiratory\/expiratory relationship, end\u2010inspiratory and \u2010expiratory thickness, thickening fraction, and pattern of contractility. The interrater reliability for each variable was established by calculation of Cohen's <jats:italic>k<\/jats:italic> coefficient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010three SMA\u20101 patients and 12 controls were evaluated. Diaphragm ultrasound values were within normal ranges in all study cohort patients and no difference was found with controls. There was a gradient of diaphragm function with SMA 1.9 subgroup having the best and SMA 1.1 having the worst parameters, particularly in end\u2010inspiratory thickness and diaphragmatic excursion (<jats:italic>P<\/jats:italic>\u2009=\u2009.031 and <jats:italic>P<\/jats:italic>\u2009=\u2009.041, respectively). Seventy\u2010four percent of SMA\u20101 patients had a dysmotility pattern of diaphragm contraction, mostly represented in SMA 1.9 subgroup (<jats:italic>P<\/jats:italic>\u2009=\u2009.001). This pattern was observed in 92.8% of children on noninvasive ventilation (NIV) for less than 16\u2009hours\/d of and in 20% patients with invasive ventilation or NIV for more than 16\u2009hours\/d (<jats:italic>P<\/jats:italic>\u2009=\u2009.027). The dysmotility pattern was never observed in the control group. The levels of interobserver agreement were high for \u201cdiaphragm irregularities,\u201d \u201cinspiratory\/expiratory relationship,\u201d and \u201cdiaphragm thickness,\u201d and good for the other variables.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Ultrasound can be used to evaluate diaphragm function and contractility in SMA\u20101 children, providing additional information to the clinical examination and functional respiratory tests, describing a characteristic contractility pattern in these patients. Longitudinal studies are needed to understand the impact of diaphragm dysmotility and other parameters on long\u2010term outcome in SMA\u20101 patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.24814","type":"journal-article","created":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T03:24:04Z","timestamp":1589253844000},"page":"1781-1788","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy"],"prefix":"10.1002","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8567-2639","authenticated-orcid":false,"given":"Danilo","family":"Buonsenso","sequence":"first","affiliation":[{"name":"Paediatric Unit, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. 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Gemelli IRCCS  Roma Italia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Leone","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health and Public Health Paediatric Neurology and Neuromuscular Omnicentre Clinical Center, Fondazione Policlinico A. Gemelli IRCCS  Roma Italia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria","family":"Ferrantini","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health and Public Health Paediatric Neurology and Neuromuscular Omnicentre Clinical Center, Fondazione Policlinico A. Gemelli IRCCS  Roma Italia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"De Sanctis","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health and Public Health Paediatric Neurology and Neuromuscular Omnicentre Clinical Center, Fondazione Policlinico A. 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