{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:22:49Z","timestamp":1789514569202,"version":"build-2803163510"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T00:00:00Z","timestamp":1752537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014989","name":"Chan Zuckerberg Initiative","doi-asserted-by":"publisher","award":["2022\u2010316728"],"award-info":[{"award-number":["2022\u2010316728"]}],"id":[{"id":"10.13039\/100014989","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":[[2026,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To calculate growth charts for pontocerebellar hypoplasia (PCH) type 2A (PCH2A) and compare them to German reference charts, especially with regard to nutritional aspects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>Data were gathered from a cohort of patients with genetically confirmed PCH2A, who were predominantly recruited through the German PCH patient network (65 patients [33 female, 32 male] at a mean age of 8\u2009years 7\u2009months). We collected data retrospectively using a parent questionnaire, and from medical records (December 2020\u2013September 2022). Disease\u2010specific growth charts were prepared from predominantly longitudinal data using the gamlss package implemented in R. Sex\u2010disaggregated growth charts for PCH2A were compared to German reference data from the Kinder\u2010 und Jugendgesundheitssurvey (German Health Interview and Examination Survey for Children and Adolescents).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The height and weight of participants with PCH2A were within the reference range at birth. Mean height was significantly lower at 6\u2009months of age, weight at 3\u2009months, and body mass index at 4\u2009months. These deviations were also mostly significant later on. Head circumference in individuals with PCH2A was significantly below average at birth; all participants showed severe and progressive microcephaly in the further course. Caloric intake was within or above reference values.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>Participants with PCH2A exhibited progressive microcephaly and frequently failed to thrive. Disease\u2010specific growth charts are a helpful tool to monitor those with PCH2A.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/dmcn.16394","type":"journal-article","created":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T04:56:32Z","timestamp":1752641792000},"page":"82-90","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Constructed growth charts and nutrition for pontocerebellar hypoplasia type\n                    <scp>2A<\/scp>"],"prefix":"10.1111","volume":"68","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-7553-7216","authenticated-orcid":false,"given":"Alice","family":"Kuhn","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4403-634X","authenticated-orcid":false,"given":"Maren","family":"Hackenberg","sequence":"additional","affiliation":[{"name":"Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna\u2010Lena","family":"Klauser","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"Herrmann","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Matilainen","sequence":"additional","affiliation":[{"name":"German PCH Patient Network (PCH\u2010Familie e.V.)  B\u00f6blingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6381-2474","authenticated-orcid":false,"given":"Simone","family":"Mayer","sequence":"additional","affiliation":[{"name":"Hertie Institute for Clinical Brain Research, Medical Faculty University of T\u00fcbingen  T\u00fcbingen Germany"},{"name":"Zoological Institute Karlsruhe Institute of Technology  Karlsruhe Germany"},{"name":"Institute of Biological and Chemical Systems\u2010Functional Molecular Systems Karlsruhe Institute of Technology  Karlsruhe Germany"},{"name":"Heidelberg Academy of Sciences and Humanities  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Fr\u00f6lich","sequence":"additional","affiliation":[{"name":"German PCH Patient Network (PCH\u2010Familie e.V.)  B\u00f6blingen Germany"},{"name":"Department of Child Neurology and Developmental Medicine University Children's Hospital  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4599-1373","authenticated-orcid":false,"given":"Ingeborg","family":"Kr\u00e4geloh\u2010Mann","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Developmental Medicine University Children's Hospital  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2706-7163","authenticated-orcid":false,"given":"Samuel","family":"Groeschel","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Developmental Medicine University Children's Hospital  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3651-1385","authenticated-orcid":false,"given":"Wibke G.","family":"Janzarik","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0826-2"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.204"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-70"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq287"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0481-4"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.050740"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2000.tb00678.x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00112-019-0726-0"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.87.2.97"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-1241.2005.00633.x"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1065-x"},{"key":"e_1_2_8_13_1","unstructured":"NeuhauserH SchienkiewitzA RosarioAS DortschyR KurthB\u2010M unter Mitarbeit von EllertU StolzenbergH(2013):Referenzperzentile f\u00fcr anthropometrische Ma\u00dfzahlen und Blutdruck aus der Studie zur Gesundheit von Kindern und Jugendlichen in Deutschland (KiGGS) 2003\u20102006. 2. Auflage. Beitr\u00e4ge zur Gesundheitsberichterstattung des Bundes. Berlin: Robert Koch\u2010Institut www.rki.de\/gbe Erscheinungsdatum: 08.08.2013."},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.2307\/2982992"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/sim.4780111005"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1467-9876.2005.00510.x"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1201\/b21973-13"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/sim.1692"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/2024.06.23.24307757"},{"key":"e_1_2_8_20_1","unstructured":"KuhnA Fr\u00f6lichS MatilainenJ Kaegeloh\u2010MannI JanzarikWG.Nat\u00fcrlicher Verlauf der Pontocerebell\u00e4ren Hypoplasie Typ 2: Ein Leitfaden f\u00fcr Eltern und Interessierte. 2. Auflage. PCH\u2010Familie e.V.2024."},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-29817-2_6"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0041-1730445"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0508-0"},{"key":"e_1_2_8_24_1","article-title":"Growth charts in Cockayne syndrome type 1 and type 2","volume":"65","author":"Baer S","year":"2020","journal-title":"European journal of medical genetics"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2006.11.012"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2011.54.7.277"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-36735"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.15799"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.16394","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T08:52:56Z","timestamp":1765183976000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.16394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,15]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1111\/dmcn.16394"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.16394","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,15]]},"assertion":[{"value":"2024-10-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}