{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T13:41:05Z","timestamp":1790430065907,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,2,27]],"date-time":"2019-02-27T00:00:00Z","timestamp":1551225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"COST Action BM1101","award":["ECOST-STSM-BM1101-300315-059209"],"award-info":[{"award-number":["ECOST-STSM-BM1101-300315-059209"]}]},{"name":"Metakids & Ride4Kids","award":["661630"],"award-info":[{"award-number":["661630"]}]},{"name":"ZonMw (NL) PM RARE","award":["113304054"],"award-info":[{"award-number":["113304054"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Although movement disorders (MDs) are known complications, the exact frequency and severity remains uncertain in patients with classical galactosemia, especially in children. We determined the frequency, classification and severity of MDs in a cohort of pediatric and adult galactosemia patients, and assessed the association with nonmotor neuropsychological symptoms and daily functioning. Patients from seven centers in the United Kingdom and the Netherlands with a confirmed galactosemia diagnosis were invited to participate. A videotaped neurological examination was performed and an expert panel scored the presence, classification and severity of MDs. Disease characteristics, nonmotor neuropsychological symptoms, and daily functioning were evaluated with structured interviews and validated questionnaires (Achenbach, Vineland, Health Assessment Questionnaire, SIP68). We recruited 37 patients; 19 adults (mean age 32.6 years) and 18 children (mean age 10.7 years). Subjective self\u2010reports revealed motor symptoms in 19\/37 (51.4%), similar to the objective (video) assessment, with MDs in 18\/37 patients (48.6%). The objective severity scores were moderate to severe in one third (6\/37). Dystonia was the overall major feature, with additional tremor in adults, and myoclonus in children. Behavioral or psychiatric problems were present in 47.2%, mostly internalizing problems, and associated with MDs. Daily functioning was significantly impaired in the majority of patients. Only one patient received symptomatic treatment for MDs. We show that MDs and nonmotor neuropsychological symptoms are frequent in both children and adults with classical galactosemia.<\/jats:p>","DOI":"10.1002\/jimd.12054","type":"journal-article","created":{"date-parts":[[2019,2,28]],"date-time":"2019-02-28T01:50:16Z","timestamp":1551318616000},"page":"451-458","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia"],"prefix":"10.1002","volume":"42","author":[{"given":"Anouk","family":"Kuiper","sequence":"first","affiliation":[{"name":"Department of Neurology, University Medical Center Groningen University of Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Gr\u00fcnewald","sequence":"additional","affiliation":[{"name":"Department of Metabolic medicine Great Ormond Street Hospital for Children, UCL Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Murphy","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit The National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maraike A.","family":"Coenen","sequence":"additional","affiliation":[{"name":"Department of Clinical Neuropsychology University of Groningen, University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendriekje","family":"Eggink","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Groningen University of Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodi","family":"Zutt","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center Groningen University of Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria E.","family":"Rubio\u2010Gozalbo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annet M.","family":"Bosch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Amsterdam, Academic Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Williams","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Center of Lysosomal and Metabolic Diseases Erasmus University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry G. J.","family":"Derks","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Groningen, University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin H. L.","family":"Lachmann","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit The National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martijn C. G. J.","family":"Brouwers","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirian C. 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