{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:15:22Z","timestamp":1791281722878,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,10,19]],"date-time":"2011-10-19T00:00:00Z","timestamp":1318982400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid \u03b1\u2010glucosidase. If left untreated, patients die before one year of age. Although enzyme\u2010replacement therapy (ERT) has significantly prolonged lifespan, it has also revealed new aspects of the disease. For up to 11 years, we investigated the frequency and consequences of facial\u2010muscle weakness, speech disorders and dysphagia in long\u2010term survivors. Sequential photographs were used to determine the timing and severity of facial\u2010muscle weakness. Using standardized articulation tests and fibreoptic endoscopic evaluation of swallowing, we investigated speech and swallowing function in a subset of patients. This study included 11 patients with classic infantile Pompe disease. Median age at the start of ERT was 2.4 months (range 0.1\u20108.3 months), and median age at the end of the study was 4.3 years (range 7.7 months \u221212.2 years). All patients developed facial\u2010muscle weakness before the age of 15 months. Speech was studied in four patients. Articulation was disordered, with hypernasal resonance and reduced speech intelligibility in all four. Swallowing function was studied in six patients, the most important findings being ineffective swallowing with residues of food (5\/6), penetration or aspiration (3\/6), and reduced pharyngeal and\/or laryngeal sensibility (2\/6). We conclude that facial\u2010muscle weakness, speech disorders and dysphagia are common in long\u2010term survivors receiving ERT for classic infantile Pompe disease. To improve speech and reduce the risk for aspiration, early treatment by a speech therapist and regular swallowing assessments are recommended.<\/jats:p>","DOI":"10.1007\/s10545-011-9404-7","type":"journal-article","created":{"date-parts":[[2011,10,18]],"date-time":"2011-10-18T13:39:56Z","timestamp":1318945196000},"page":"505-511","source":"Crossref","is-referenced-by-count":84,"title":["Facial\u2010muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy"],"prefix":"10.1002","volume":"35","author":[{"given":"C. M.","family":"van Gelder","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center P.O. Box 2060 Rotterdam CB 3000 the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. I.","family":"van Capelle","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center P.O. Box 2060 Rotterdam CB 3000 the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. J.","family":"Ebbink","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center P.O. Box 2060 Rotterdam CB 3000 the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Moor\u2010van Nugteren","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. M. P.","family":"den van Hout","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Child Neurology, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center P.O. Box 2060 Rotterdam CB 3000 the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. M.","family":"Hakkesteegt","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. A.","family":"van Doorn","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. F. M.","family":"de Coo","sequence":"additional","affiliation":[{"name":"Department of Neurology Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. J. J.","family":"Reuser","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. H. W.","family":"de Gier","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. T.","family":"van der Ploeg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center P.O. Box 2060 Rotterdam CB 3000 the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,10,19]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200103000-00008"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.2174\/138161208784705504"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.12.2145"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9206-3"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1044\/jshr.1203.462"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1044\/jshr.1202.246"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20896"},{"key":"e_1_2_8_9_1","volume-title":"Muscle Disorders in Childhood","author":"Dubowitz V","year":"1978"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-197107000-00008"},{"key":"e_1_2_8_11_1","first-page":"3389","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Hirschhorn R","year":"2001"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-201X.2004.01402.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/02699200410001703600"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.02.035"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181b24e94"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.10.009"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-837543"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.01.015"},{"key":"e_1_2_8_21_1","volume-title":"Endoscopic Evaluation and Treatment of Swallowing Disorders","author":"Langmore SE","year":"2001"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02414429"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196501000-00008"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00687878"},{"key":"e_1_2_8_25_1","first-page":"147","article-title":"Language and speech function in children with infantile Pompe disease","volume":"7","author":"Muller CW","year":"2009","journal-title":"J Pediatr Neurol"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31819d0996"},{"key":"e_1_2_8_27_1","first-page":"304","article-title":"Over Idiopathische Hypertrofie van het Hart","volume":"76","author":"Pompe JC","year":"1932","journal-title":"Ned Tijdschr Geneeskd"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2004.09.017"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOO.0b013e328316bd68"},{"key":"e_1_2_8_30_1","first-page":"829","article-title":"Glycogenosis type II (Pompe). The fourth autopsy case in Japan","volume":"24","author":"Sakurai I","year":"1974","journal-title":"Acta Pathol Jpn"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1159\/000070576"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.3109\/01676830.2010.546932"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9144-0"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02533-2"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.113.5.e448"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61555-X"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9404-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T20:41:05Z","timestamp":1694810465000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-011-9404-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,10,19]]},"references-count":36,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1007\/s10545-011-9404-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-011-9404-7","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,10,19]]}}}