{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T05:42:59Z","timestamp":1785562979068,"version":"3.56.0"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,3,23]],"date-time":"2018-03-23T00:00:00Z","timestamp":1521763200000},"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":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A functional outcome measure for infants (aged 0\u20133 years) with Charcot\u2010Marie\u2010Tooth (CMT) disease is needed for upcoming disease\u2010modifying trials. A systematic review of outcome measures for infants with neuromuscular disorders was completed to determine if validated measures were available for the CMT infant population. We assessed 20,375 papers and identified seven functional outcome measures for infants with neuromuscular disorders. Six were developed and validated for spinal muscular atrophy (SMA). There were no CMT\u2010specific outcome measures identified; however, one (motor function measure) assessed a range of neuromuscular disorders including 13 infants and children with CMT. The included studies exhibited \u201cgood\u201d face, discriminant, convergent and concurrent validity, and reported excellent intra\u2010 and inter\u2010rater reliability. No outcome measure was subjected to item response theory. Studies reported outcome measures comprising of 51 different items assessing six domains of function: reflexive movement, axial movement, limb movement, positioning, gross motor, and fine\u2010motor skills. Scoring of items ranged from 2\u2010 to 7\u2010point rating scales; and none were scaled to normative reference values to account for changes in growth and development. The SMA focus of most items is likely to produce ceiling effects and lack sensitivity and responsiveness for within and between types of CMT in infants. Nevertheless, several items across scales assessing distal strength, gross\u2010 and fine\u2010motor function, could be included in the development of a composite functional outcome measure for infants with CMT to assess disease\u2010modifying interventions.<\/jats:p>","DOI":"10.1111\/jns.12258","type":"journal-article","created":{"date-parts":[[2018,3,9]],"date-time":"2018-03-09T06:06:39Z","timestamp":1520575599000},"page":"99-107","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Functional outcome measures for infantile Charcot\u2010Marie\u2010Tooth disease: a systematic review"],"prefix":"10.1111","volume":"23","author":[{"given":"Melissa R.","family":"Mandarakas","sequence":"first","affiliation":[{"name":"Faculty of Health Sciences, The University of Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristy J.","family":"Rose","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, The University of Sydney  Sydney New South Wales Australia"},{"name":"The Children's Hospital at Westmead  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oranee","family":"Sanmaneechai","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Siriraj Hospital, Mahidol University  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manoj P.","family":"Menezes","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, The University of Sydney  Sydney New South Wales Australia"},{"name":"The Children's Hospital at Westmead  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn M.","family":"Refshauge","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, The University of Sydney  Sydney New South Wales 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