{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T23:36:34Z","timestamp":1791588994811,"version":"4.3.4"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,1,20]],"date-time":"2019-01-20T00:00:00Z","timestamp":1547942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003784","name":"Great Ormond Street Hospital for Children","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003784","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000765","name":"University College London","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000765","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>\n                      To explore the clinical course of patients presenting with facioscapulohumeral dystrophy type 1 (\n                      <jats:styled-content style=\"fixed-case\">FSHD<\/jats:styled-content>\n                      1) in childhood, with a view to identifying areas where they differed from older patients and where extra support or monitoring might be required.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      A retrospective case\u2010notes review of children with\n                      <jats:styled-content style=\"fixed-case\">FSHD<\/jats:styled-content>\n                      1 seen at a tertiary paediatric neuromuscular centre between 2002 and 2016 was performed. Data collected included age at and nature of presentation, path to diagnosis, genetic testing results, motor function, and occurrence of extramuscular features and complications.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Eighteen children (11 females, seven males; mean [SD] age at latest review 13y 10mo [3y 9mo], range 8\u201319y) from 16 families were identified. Age at onset of\n                      <jats:styled-content style=\"fixed-case\">FSHD<\/jats:styled-content>\n                      1 correlated with the size of deletion (\n                      <jats:italic>r<\/jats:italic>\n                      =0.81) and most presentations were in children either younger than 5 years or older than 10 years. Children with onset before 5 years were more likely to present with non\u2010muscular symptoms and to develop extramuscular pathology, including developmental and psychiatric issues, hearing or visual impairments, and problems involving respiratory function and nutrition. No cases of epilepsy or cardiac arrhythmia were identified but two children died.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      The complexity and severity of\n                      <jats:styled-content style=\"fixed-case\">FSHD<\/jats:styled-content>\n                      1 presenting in early childhood underlines the importance of a multidisciplinary approach to the disorder.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>What this paper adds<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>Young children often present with non\u2010muscular pathology in facioscapulohumeral dystrophy type 1 (FSHD1), especially hearing loss.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Age at onset in paediatric FSHD1 appears bimodal: under 5 years or in adolescence.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Prolonged delays to diagnosis are common.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Children with very early\u2010onset FSHD1 may require nutritional and\/or respiratory support.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Developmental and psychiatric comorbidities are common.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  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