{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T01:32:33Z","timestamp":1793496753951,"version":"4.5.0"},"reference-count":34,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,7,23]],"date-time":"2022-07-23T00:00:00Z","timestamp":1658534400000},"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 Paediatrics Child Health"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>Muscle weakness, fatigue and speech problems can occur in neurofibromatosis type 1 (NF1). The pathogenesis of these symptoms is unclear, likely multifactorial. We examined motor function in limb and speech muscles in NF1 patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We evaluated NF1 and control groups aged 4\u201318\u2009years for muscle strength, tone and mobility using standard manual testing, joint motion and Beighton score measurements. Speech and language functions were assessed by speech articulation and resonance. As a marker of muscle tissue turnover, we determined collagen degradation products in urine before and after submaximal exercise.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>NF1 patients had reduced strength in proximal limb muscles compared to control subjects. Speech articulation problems and hypernasality were more common in NF1 (47% and 38%, respectively). Collagen products excreted in urine correlated with gluteal and biceps muscle strength.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Muscle dysfunction can be detected in some children with NF1 and may explain certain clinical features including fatigue, speech and articulation problems. If confirmed by further research, these findings may be relevant to the management of this condition.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jpc.16133","type":"journal-article","created":{"date-parts":[[2022,7,23]],"date-time":"2022-07-23T10:09:31Z","timestamp":1658570971000},"page":"1997-2002","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Clinical evaluation of muscle functions in neurofibromatosis type 1"],"prefix":"10.1111","volume":"58","author":[{"given":"Gokce","family":"Gurler","sequence":"first","affiliation":[{"name":"Faculty of Medicine Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hira","family":"Altunbuker","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozge","family":"Cankaya","sequence":"additional","affiliation":[{"name":"Faculty of Physical Therapy and Rehabilitation Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"Esen\u2010Aydinli","sequence":"additional","affiliation":[{"name":"Department of Speech and Language Therapy, Faculty of Health Sciences Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onal","family":"Incebay","sequence":"additional","affiliation":[{"name":"Department of Speech and Language Therapy, Faculty of Health Sciences Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sinem A.","family":"Sel","sequence":"additional","affiliation":[{"name":"Faculty of Physical Therapy and Rehabilitation Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Incilay","family":"Lay","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, Faculty of Medicine Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mintaze","family":"Kerem\u2010Gunel","sequence":"additional","affiliation":[{"name":"Faculty of Physical Therapy and Rehabilitation Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6727-6229","authenticated-orcid":false,"given":"Banu","family":"Anlar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine Hacettepe University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,23]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"575","article-title":"Conference statement. 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