{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T11:50:11Z","timestamp":1774871411212,"version":"3.50.1"},"reference-count":76,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,5,26]],"date-time":"2025-05-26T00:00:00Z","timestamp":1748217600000},"content-version":"vor","delay-in-days":25,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100024932","name":"Children\u2019s Health Foundation","doi-asserted-by":"publisher","award":["RPAC 1902\/1903"],"award-info":[{"award-number":["RPAC 1902\/1903"]}],"id":[{"id":"10.13039\/501100024932","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Classical Galactosaemia (CG) is an inborn error of carbohydrate metabolism. In untreated neonates, CG leads to a multi\u2010organ toxicity with life\u2010threatening symptoms. Newborn Screening for CG began in the Republic of Ireland in 1972. In Ireland, two forms of neonatal screening occur. High\u2010risk infants are fed lactose\u2010free\/galactose\u2010free formula until the result of their Beutler screening test on day 1. All other infants are fed as per parental preference and are screened on day three to five. While immediate or early implementation of a strict lactose\u2010free diet together with medical interventions will usually address the acute medical complications, long\u2010term complications are common. We reviewed retrospectively and anonymised the clinical outcomes of our CG cohort, derived from our hospital\u2010based database. Patient demographic information, co\u2010morbidities, developmental assessment results, and other relevant health indicators were analysed from birth to 18\u2009years. Out of 217 patients, 95% of subjects were alive at 18\u2009years of age. Common co\u2010morbidities were speech and language difficulty (43.5%) and learning difficulty (25.5%). In this Irish cohort, Friedreich Ataxia is a genetically linked condition for a subgroup of CG individuals (7.9%). Our data demonstrate that while early diagnosis prevents mortality, it does not prevent developmental disorders, underpinning the neuro\u2010developmental nature of CG. High\u2010risk and routine newborn screening for CG have reduced the mortality rate of the disorder, and early medical and dietetic intervention is a success story. However, long\u2010term medical and developmental challenges persist, and an early, proactive multidisciplinary approach may further mitigate the phenotype in CG patients diagnosed on NBS.<\/jats:p>","DOI":"10.1002\/jmd2.70022","type":"journal-article","created":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T01:39:03Z","timestamp":1748309943000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and Developmental Outcomes After 50\u2009Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2587-2038","authenticated-orcid":false,"given":"D.","family":"Pereira","sequence":"first","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"},{"name":"Department of Neurodisability Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Loftus","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. E.","family":"Thompson","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Boyle","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"McNulty","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Boruah","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Crushell","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"},{"name":"School of Medicine, University College Dublin  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Howard","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Hughes","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. A.","family":"Monavari","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"},{"name":"School of Medicine, University College Dublin  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. P.","family":"Treacy","sequence":"additional","affiliation":[{"name":"School of Medicine, University College Dublin  Dublin Ireland"},{"name":"School of Medicine Trinity College Dublin  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Beegan","sequence":"additional","affiliation":[{"name":"Clinical Research Centre, Children's Health Ireland  Dublin Ireland"},{"name":"Data Science Centre, School of Population Health, Royal College of Surgeons in Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Jordan","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Rogers","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Collins","sequence":"additional","affiliation":[{"name":"Public Health Medicine Health Service Executive (HSE), HSE Area Offices  Tullamore Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. J.","family":"Brady","sequence":"additional","affiliation":[{"name":"School of Medicine, University College Dublin  Dublin Ireland"},{"name":"National Newborn Screening Laboratory, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Elsammak","sequence":"additional","affiliation":[{"name":"National Newborn Screening Laboratory, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. D.","family":"Mayne","sequence":"additional","affiliation":[{"name":"National Newborn Screening Laboratory, Children's Health Ireland  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4015-0658","authenticated-orcid":false,"given":"I.","family":"Knerr","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders, Children's Health Ireland  Dublin Ireland"},{"name":"School of Medicine, University College Dublin  Dublin Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,26]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"crossref","unstructured":"J. L.Fridovich\u2010Keil \u201cGalactosemia Reference Module in Life Sciences \u201d2017 https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/B9780128096338064591.","DOI":"10.1016\/B978-0-12-809633-8.06459-1"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R300025200"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12202"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.08.004"},{"issue":"1","key":"e_1_2_14_6_1","first-page":"33","article-title":"Classical Galactosaemia and CDG, the N\u2010Glycosylation Interface. A Review","volume":"34","author":"Maratha A.","year":"2017","journal-title":"JIMD Reports"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12508"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-3016.1997.d01-31.x"},{"key":"e_1_2_14_9_1","volume-title":"Screening for Galactosaemia: External Review Against Programme Appraisal Criteria for the UK National Screening Committee (UK NSC)","author":"UKNSC","year":"2014"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9936-y"},{"issue":"1","key":"e_1_2_14_11_1","first-page":"16","article-title":"Galactosaemia\u2014A Controversial Disorder. Screening & Outcome. Ireland 1972\u20101992","volume":"89","author":"Badawi N.","year":"1996","journal-title":"Irish Medical Journal"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns5020019"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom12070968"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.172"},{"issue":"12","key":"e_1_2_14_15_1","article-title":"Newborn Screening for Galactosaemia","volume":"12","author":"Lak R.","year":"2017","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"6","key":"e_1_2_14_16_1","article-title":"Newborn Screening for Galactosaemia","volume":"6","author":"Lak R.","year":"2020","journal-title":"Cochrane Database of Systematic Reviews"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.12.012"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9507-9"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2018.01.025"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.01.2011.3769"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1047-z"},{"key":"e_1_2_14_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2015.107"},{"key":"e_1_2_14_23_1","doi-asserted-by":"publisher","DOI":"10.3390\/nu15020407"},{"key":"e_1_2_14_24_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-277X.2002.00330.x"},{"issue":"3","key":"e_1_2_14_25_1","first-page":"212","article-title":"Dietary Management of Galactosemia","volume":"34","author":"Thompson S. M.","year":"2003","journal-title":"Southeast Asian Journal of Tropical Medicine and Public Health"},{"key":"e_1_2_14_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2016_28"},{"key":"e_1_2_14_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-012-1983-0"},{"key":"e_1_2_14_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9372-y"},{"key":"e_1_2_14_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-017-1039-7"},{"key":"e_1_2_14_30_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199310000-00006"},{"key":"e_1_2_14_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmp038"},{"key":"e_1_2_14_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9221-4"},{"key":"e_1_2_14_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2017.05.013"},{"key":"e_1_2_14_34_1","doi-asserted-by":"publisher","DOI":"10.1037\/0894-4105.18.4.658"},{"key":"e_1_2_14_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9232-1"},{"key":"e_1_2_14_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072514"},{"key":"e_1_2_14_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800204"},{"key":"e_1_2_14_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2013_219"},{"key":"e_1_2_14_39_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-199811000-00009"},{"key":"e_1_2_14_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-017-0029-3"},{"key":"e_1_2_14_41_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.109148"},{"key":"e_1_2_14_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(94)70197-0"},{"key":"e_1_2_14_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70432-8"},{"key":"e_1_2_14_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1081-4"},{"key":"e_1_2_14_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12556"},{"key":"e_1_2_14_46_1","unstructured":"Central Statistics Office \u201cLive Births1972\u20102022 Online: Central Statistics Office \u201d2022 https:\/\/data.cso.ie\/."},{"key":"e_1_2_14_47_1","unstructured":"Central Statistics Office \u201cCensus2016 Online: Central Statistics Office \u201d2016 https:\/\/www.cso.ie\/en\/census\/census2016reports\/."},{"key":"e_1_2_14_48_1","volume-title":"HSE Intercultural Guide","author":"Health Service Executive","year":"2024"},{"key":"e_1_2_14_49_1","unstructured":"Department of Justice \u201cTraveller and Roma Policy in Ireland Online: Department of Justice \u201d2022 http:\/\/www.travellerinclusion.ie\/website\/TravPolicy\/travinclusionweb.nsf\/page\/anti_discrimination\u2010en."},{"issue":"6","key":"e_1_2_14_50_1","first-page":"233","article-title":"Congenital Anomalies in the Irish Traveller Community","volume":"90","author":"Barry J.","year":"1997","journal-title":"Irish Medical Journal"},{"key":"e_1_2_14_51_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-022-04697-0"},{"key":"e_1_2_14_52_1","volume-title":"National Traveller Health Action Plan 2022\u20102027","author":"Health Service Executive","year":"2021"},{"issue":"1","key":"e_1_2_14_53_1","first-page":"1","article-title":"Friedreich Ataxia in Classical Galactosaemia","volume":"26","author":"Neville S.","year":"2016","journal-title":"JIMD Reports"},{"key":"e_1_2_14_54_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9990-5"},{"key":"e_1_2_14_55_1","volume-title":"Gypsy, Roma and Irish Traveller Ethnicity Summary","author":"Gov.uk","year":"2022"},{"key":"e_1_2_14_56_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010012\u20109477\u2010y"},{"key":"e_1_2_14_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2022.07.005"},{"key":"e_1_2_14_58_1","doi-asserted-by":"publisher","DOI":"10.1515\/cclm.2002.194"},{"key":"e_1_2_14_59_1","unstructured":"A. N.Hamid J.Yurner S.Abdalla B.Quirke L.Daly andP.Fitzpatrick \u201cAll\u2010Ireland Traveller Health Study \u201d2010 https:\/\/www.gov.ie\/en\/publication\/b9c48a\u2010all\u2010ireland\u2010traveller\u2010health\u2010study\/."},{"key":"e_1_2_14_60_1","volume-title":"A Study on the Prevalence of Special Educational Needs","author":"Banks J.","year":"2011"},{"key":"e_1_2_14_61_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph18168483"},{"key":"e_1_2_14_62_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1215-1"},{"key":"e_1_2_14_63_1","doi-asserted-by":"publisher","DOI":"10.1111\/cch.12639"},{"key":"e_1_2_14_64_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14044"},{"key":"e_1_2_14_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25348"},{"key":"e_1_2_14_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.11.052"},{"key":"e_1_2_14_67_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02143794"},{"key":"e_1_2_14_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2020.101845"},{"key":"e_1_2_14_69_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12279"},{"key":"e_1_2_14_70_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.11.001"},{"key":"e_1_2_14_71_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.040902"},{"key":"e_1_2_14_72_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)92430-9"},{"key":"e_1_2_14_73_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02568-3"},{"key":"e_1_2_14_74_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-021-01271-6"},{"key":"e_1_2_14_75_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2009.26"},{"key":"e_1_2_14_76_1","doi-asserted-by":"publisher","DOI":"10.1111\/jnc.12215"},{"key":"e_1_2_14_77_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12874-022-01605-w"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.70022","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T08:37:46Z","timestamp":1748421466000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.70022"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":76,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1002\/jmd2.70022"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.70022","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5]]},"assertion":[{"value":"2024-10-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70022"}}