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Cognitive scores (<jats:italic>n<\/jats:italic>=32) ranged from very low to above average; about half of the participants exhibited a clinically significant advantage of Verbal <jats:styled-content style=\"fixed-case\">IQ<\/jats:styled-content> over Non\u2010verbal <jats:styled-content style=\"fixed-case\">IQ<\/jats:styled-content>. Adaptive behavior scores (<jats:italic>n<\/jats:italic>=21) were generally in the borderline to impaired range. Longitudinal cognitive data (<jats:italic>n<\/jats:italic>=19) suggested a pattern of decreasing scores over time. However, most participants remained at the same general level of functioning throughout the study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>This study begins to systematically describe the neurocognitive phenotype of children and adolescents with <jats:styled-content style=\"fixed-case\">NPC<\/jats:styled-content>1, identifying heterogeneity and decline, aiding in understanding the natural history of the disease to plan treatment studies.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.12970","type":"journal-article","created":{"date-parts":[[2015,11,20]],"date-time":"2015-11-20T04:56:41Z","timestamp":1447995401000},"page":"262-269","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann\u2010Pick Disease type C1"],"prefix":"10.1111","volume":"58","author":[{"given":"Audrey","family":"Thurm","sequence":"first","affiliation":[{"name":"Pediatrics and Developmental Neuroscience Branch Intramural Research Program National Institute of Mental Health NIH DHHS Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristan","family":"Farmer","sequence":"additional","affiliation":[{"name":"Pediatrics and Developmental Neuroscience Branch Intramural Research Program National Institute of Mental Health NIH DHHS Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole Yanjanin","family":"Farhat","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology and Genetics Eunice Kennedy Shriver National Institute of Child Health and Human Development NIH DHHS Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edythe","family":"Wiggs","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute National Institute of Mental Health NIH DHHS Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Black","sequence":"additional","affiliation":[{"name":"Pediatrics and Developmental Neuroscience Branch Intramural Research Program National Institute of Mental Health NIH DHHS Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Forbes D","family":"Porter","sequence":"additional","affiliation":[{"name":"Developmental Endocrinology and Genetics Eunice Kennedy Shriver National Institute of Child Health and Human Development NIH DHHS Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,11,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.25"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl260"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00147.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-166"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182563b82"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0417-6"},{"key":"e_1_2_7_8_1","volume-title":"The Cognitive Phenotype of Niemann\u2013Pick type C (NPC): Neuropsychological Characteristics of Patients at Baseline in a Clinical Trial with Oral Miglustat","author":"Hinton VJ","year":"2005"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30969"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0023666"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-35"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.11.164"},{"key":"e_1_2_7_13_1","volume-title":"Wechsler Preschool and Primary Scale of Inteligence","author":"Wechsler D","year":"2002"},{"key":"e_1_2_7_14_1","volume-title":"Wechsler Intelligence Scale for Children","author":"Wechsler D","year":"2003"},{"key":"e_1_2_7_15_1","volume-title":"Wechsler Abbreviated Scale of Intelligence","author":"Wechsler D","year":"1999"},{"key":"e_1_2_7_16_1","volume-title":"Mullen Scales of Early Learning","author":"Mullen EM","year":"1995"},{"key":"e_1_2_7_17_1","volume-title":"Vineland Adaptive Behavior Scales","author":"Sparrow SS","year":"2005"},{"key":"e_1_2_7_18_1","first-page":"886","volume-title":"Task Force on DSM\u2010IV. 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