{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T11:56:09Z","timestamp":1777895769119,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,6,2]],"date-time":"2017-06-02T00:00:00Z","timestamp":1496361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000276","name":"Department of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000276","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":[[2017,9]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To describe the cases of Niemann\u2013Pick type C (<jats:styled-content style=\"fixed-case\">NP<\/jats:styled-content>\u2010C) disease in a United Kingdom epidemiological study of progressive intellectual and neurological deterioration in childhood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Paediatricians notified cases via the British Paediatric Surveillance Unit between 1997 and 2015.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fifty\u2010three <jats:styled-content style=\"fixed-case\">NP<\/jats:styled-content>\u2010C patients were identified: 29 females, 24 males. Fifteen cases had a systemic presentation (neonatal jaundice and\/or hepatosplenomegaly). Thirty\u2010eight had a neurological onset, the commonest presenting symptom being gait disturbance\/ataxia (29 cases, 76%). Forty\u2010nine cases eventually had neurological problems, the commonest were school\/cognitive difficulties (40, 82%), seizures (33, 67%), dysphagia (20, 41%), dysarthria (18, 37%), cataplexy (17, 35%), and visual deterioration (8, 16%); their commonest abnormal physical signs were vertical supranuclear gaze palsy (35, 71%), hypotonia (19, 39%) and hepatosplenomegaly (19, 39%). The median diagnostic delay in the 38 neurological onset cases was 3 years (range 0.3\u201312.8). Confirmatory investigations included filipin staining of skin fibroblasts (42 cases), bone marrow examination in 30 (the last in 2011), and increasingly <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> studies, mutations in <jats:italic>NP\u2010C1<\/jats:italic> being found in 20 cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">NP<\/jats:styled-content>\u2010C should be considered in children with progressive neurological deterioration. Subtle neurological problems combined with a history of prolonged neonatal jaundice and\/or hepatosplenomegaly may provide early evidence of the disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.13476","type":"journal-article","created":{"date-parts":[[2017,6,2]],"date-time":"2017-06-02T09:45:40Z","timestamp":1496396740000},"page":"965-972","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Niemann\u2013Pick type C as a cause of progressive intellectual and neurological deterioration in childhood"],"prefix":"10.1111","volume":"59","author":[{"given":"Anne Marie","family":"Winstone","sequence":"first","affiliation":[{"name":"PIND Research Group Addenbrooke's Hospital Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lesley Ann","family":"Stellitano","sequence":"additional","affiliation":[{"name":"PIND Research Group Addenbrooke's Hospital Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2496-6809","authenticated-orcid":false,"given":"Christopher Michael","family":"Verity","sequence":"additional","affiliation":[{"name":"PIND Research Group Addenbrooke's Hospital Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,6,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.87.4.269"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02785-9"},{"key":"e_1_2_7_4_1","unstructured":"Royal College of Paediatrics and Child Health.BPSU \u2013 PIND (Progressive Intellectual and Neurological Deterioration).2015. 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