{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T15:02:50Z","timestamp":1790866970699,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T00:00:00Z","timestamp":1326758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2012,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This report documents the long\u2010term cognitive and adaptive outcome of children with infantile Pompe disease. Specifically, we describe the cognitive and adaptive functioning of seven children with classic infantile Pompe disease and two children with atypical infantile Pompe disease who have received enzyme replacement therapy (Myozyme\u00ae) for an average of 6 years, 8 months and 4 years, 1. 5 months, respectively. Multiple assessments of cognitive functioning were completed over time by means of individualized intelligence (IQ) testing. Adaptive functioning was measured by means of the Vineland Adaptive Behavior Scales\u2010Second Edition (VABS\u2010II). Consistent with our earlier findings regarding infants treated with ERT, children with classic infantile Pompe disease (ages 4 years, 11 months to 8 years, 11 months) were functioning at the lower end of the average range in comparison to their typical peers on their most recent IQ test. There was no evidence of a decline in their cognitive abilities over time. In contrast, the two children with atypical infantile Pompe disease (ages 5 years, 4 months and 5 years, 11 months) obtained above average IQ scores and demonstrated significant gains in IQ over time. For all children where adaptive functioning was assessed, their overall level of adaptive functioning on the VABS\u2010II was lower than their Full Scale IQ scores on cognitive testing. Motor function appears to be an important factor impacting on reduced adaptive behavior. The implication of these findings on our understanding of a possible relationship between CNS status in children with Pompe and their adaptive and cognitive function is discussed. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.31323","type":"journal-article","created":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T20:59:18Z","timestamp":1326833958000},"page":"22-29","source":"Crossref","is-referenced-by-count":25,"title":["Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long\u2010term follow\u2010up"],"prefix":"10.1002","volume":"160C","author":[{"given":"Gail A.","family":"Spiridigliozzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James H.","family":"Heller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,1,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/jpepsy\/jsh057"},{"key":"e_1_2_7_3_1","volume-title":"Bayley Scales of Infant Development","author":"Bayley N","year":"1993"},{"key":"e_1_2_7_4_1","volume-title":"Bayley Scales of Infant and Toddler Development","author":"Bayley N","year":"2006"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.807"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.pdr.0000233014.84318.4e"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000031101.12838.c6"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-0173"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-001-0006-9"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00687878"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.5.906"},{"key":"e_1_2_7_12_1","article-title":"Successful immune tolerance induction to enzyme replacement therapy in CRIM\u2010negative infantile Pompe disease","author":"Messinger YH","journal-title":"Genet Med"},{"key":"e_1_2_7_13_1","volume-title":"Mullen Scales of Early Learning","author":"Mullen EM","year":"1995"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9209-0"},{"key":"e_1_2_7_15_1","volume-title":"Leiter International Performance Scale\u2010Revised: Examiners Manual","author":"Roid GM","year":"1997"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e3181815994"},{"key":"e_1_2_7_17_1","volume-title":"Vineland Adaptive Behavior Scales","author":"Sparrow S","year":"2005"},{"key":"e_1_2_7_18_1","first-page":"379","article-title":"Infantile\u2010onset glycogen storage disease type II (Pompe disease): Report of a case with genetic diagnosis and pathological findings","volume":"27","author":"Teng Y","year":"2004","journal-title":"Chang Gung Med J"},{"key":"e_1_2_7_19_1","article-title":"Early cognitive development in children with infantile Pompe disease","author":"Spiridigliozzi GA","journal-title":"Mol Genet Metab"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3700484"},{"key":"e_1_2_7_21_1","volume-title":"Wechsler Preschool and Primary Scale of Intelligence\u2014Third Edition (WPPSI\u2010III) Administration and Scoring Manual","author":"Wechsler D","year":"2002"},{"key":"e_1_2_7_22_1","volume-title":"Wechsler Intelligence Scale for Children","author":"Wechsler D","year":"2003"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31323","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31323","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T19:57:29Z","timestamp":1694462249000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,17]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,2,15]]}},"alternative-id":["10.1002\/ajmg.c.31323"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31323","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,17]]}}}