{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T13:20:46Z","timestamp":1787318446533,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T00:00:00Z","timestamp":1691971200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>Congenital myasthenic syndromes (CMS) are a rare and diverse group of treatable neuromuscular transmission disorders. Diagnosis is often substantially delayed. This study aimed to identify common symptoms of CMS in children and their manifestation to aid diagnosis and early intervention.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed a retrospective cohort study, including 18 children (median age 13\u2009years, range 9\u2009years 5 months\u201318\u2009years 0\u2009month) with CMS. Data on CMS symptoms and their manifestation were extracted from patients' charts and supplemented with parental telephone interviews. Descriptive analyses were used to identify common symptoms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A median diagnostic delay of 4\u2009years and 7\u2009months (interquartile range: 51\u2009months) was observed. Proximal muscle weakness (100%), ptosis (89%), clumsy gait (82%), difficulty eating solid foods (78%) and recurrent respiratory tract infections (72%) were most common in these patients. Symptoms mostly co\u2010occurred and frequently had a fluctuating character, aggravated by infections or fatigue.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Early referral to diagnose CMS is crucial to enable timely initiation of treatment. Heightened attention to a combination of symptoms related to muscle weakness, rather than individual symptoms, should support paediatricians in flagging these neuromuscular disorders. Medical history taking should be tailored to parents' perceptions, asking questions about recognisable symptoms of muscle weakness.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/apa.16945","type":"journal-article","created":{"date-parts":[[2023,8,8]],"date-time":"2023-08-08T03:27:27Z","timestamp":1691465247000},"page":"2434-2439","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Recognising symptoms of congenital myasthenic syndromes in children: A guide for paediatricians"],"prefix":"10.1111","volume":"112","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0561-4768","authenticated-orcid":false,"given":"Lynn B.","family":"Orri\u00ebns","sequence":"first","affiliation":[{"name":"Division of Paediatrics, Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Centre, Amalia Children's Hospital  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilan","family":"Eker","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Centre, Amalia Children's Hospital  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8053-5918","authenticated-orcid":false,"given":"Hilde M. H.","family":"Braakman","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Centre, Amalia Children's Hospital  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1977-7384","authenticated-orcid":false,"given":"Peter J. F. M.","family":"Merkus","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Department of Paediatric Pulmonology Radboud University Medical Centre, Amalia Children's Hospital  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6657-941X","authenticated-orcid":false,"given":"Corrie E.","family":"Erasmus","sequence":"additional","affiliation":[{"name":"Division of Paediatrics, Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Centre, Amalia Children's Hospital  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2012-000404"},{"key":"e_1_2_9_3_1","volume-title":"GeneReviews(\u00ae)","author":"Abicht A","year":"1993"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70201-7"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnhum.2020.560860"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/nyas.13538"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19061677"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneuroim.2008.06.026"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.16688"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813511859"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6605383"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1472-6963-14-387"},{"key":"e_1_2_9_13_1","volume-title":"Electrodiagnostic Evaluation of Neuromuscular Junction Disorder. StatPearls","author":"Patel P","year":"2022"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14592"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190436"}],"container-title":["Acta Paediatrica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/apa.16945","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T03:33:35Z","timestamp":1705980815000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/apa.16945"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,14]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1111\/apa.16945"],"URL":"https:\/\/doi.org\/10.1111\/apa.16945","archive":["Portico"],"relation":{},"ISSN":["0803-5253","1651-2227"],"issn-type":[{"value":"0803-5253","type":"print"},{"value":"1651-2227","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,14]]},"assertion":[{"value":"2023-04-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}