{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T14:51:50Z","timestamp":1788360710473,"version":"build-2803163510"},"reference-count":80,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T00:00:00Z","timestamp":1736985600000},"content-version":"am","delay-in-days":15,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T00:00:00Z","timestamp":1736985600000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1105008"],"award-info":[{"award-number":["1105008"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1195955"],"award-info":[{"award-number":["1195955"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1172897"],"award-info":[{"award-number":["1172897"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["2015727"],"award-info":[{"award-number":["2015727"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["2006841"],"award-info":[{"award-number":["2006841"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["2022156"],"award-info":[{"award-number":["2022156"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000923","name":"Australian Research Council","doi-asserted-by":"publisher","award":["220100253"],"award-info":[{"award-number":["220100253"]}],"id":[{"id":"10.13039\/501100000923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100022951","name":"Batten Disease Support and Research Association Australia","doi-asserted-by":"publisher","award":["2022"],"award-info":[{"award-number":["2022"]}],"id":[{"id":"10.13039\/501100022951","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    CLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills. Here we delineate speech, language, non\u2010verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.5\u2009years (range 3\u201328\u2009years); 16 had CLN2 and 17 CLN3 disease; 8\/15 (53%) participants with CLN2 and 8\/17 (47%) participants with CLN3 disease had speech and language impairments prior to genetic diagnosis. At the time of study all participants, bar one, had language impairments. The remaining participant with typical language was tested at age 3\u2009years, following pre\u2010symptomatic enzyme replacement therapy (ERT) from age 9\u2009months. CLN2 and CLN3 disease had different profiles. For CLN2 disease, all affected individuals showed language impairment with dysarthria; older individuals with classical disease progressively became non\u2010verbal. For CLN3 disease, the presentation was more heterogeneous. Speech impairment was evident early in the disease course, with dysarthria (13\/15, 87%), often manifesting as neurogenic stuttering (5\/15, 33%). Participants with CLN2 disease had comparable expressive and receptive language skills (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&gt;\u20090.99), yet participants with CLN3 disease had stronger expressive language than receptive language skills (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.004). Speech, cognitive and language impairment and adaptive behaviour showed progressive decline in both diseases. Individuals with pre\u2010symptomatic ERT or atypical CLN2 disease were less impaired. Challenging behaviours were common in CLN3 (11\/17, 65%), but less frequent in CLN2 (4\/16, 25%) disease. Individuals with Batten disease require tailored speech therapy incorporating communication partner training utilising environment adaptations and informal communication behaviours.\n                  <\/jats:p>","DOI":"10.1002\/jimd.12838","type":"journal-article","created":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T01:08:27Z","timestamp":1737076107000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Speech, Language and Non\u2010verbal Communication in\n                    <scp>CLN2<\/scp>\n                    and\n                    <scp>CLN3<\/scp>\n                    Batten Disease"],"prefix":"10.1002","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2822-6522","authenticated-orcid":false,"given":"Lottie D.","family":"Morison","sequence":"first","affiliation":[{"name":"Speech and Language Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Audiology and Speech Pathology The University of Melbourne  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ineka T.","family":"Whiteman","sequence":"additional","affiliation":[{"name":"Batten Disease Support and Research Association Australia  Shelley Beach New South Wales Australia"},{"name":"Batten Disease Support, Research and Advocacy Association  Columbus Ohio USA"},{"name":"Beyond Batten Disease Foundation  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3505-2631","authenticated-orcid":false,"given":"Adam P.","family":"Vogel","sequence":"additional","affiliation":[{"name":"Department of Audiology and Speech Pathology The University of Melbourne  Parkville Victoria Australia"},{"name":"Redenlab Pty Ltd  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Tilbrook","sequence":"additional","affiliation":[{"name":"Batten Disease Support and Research Association Australia  Shelley Beach New South Wales Australia"},{"name":"Thrive Health Care  Port Pirie South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael C.","family":"Fahey","sequence":"additional","affiliation":[{"name":"Batten Disease Support and Research Association Australia  Shelley Beach New South Wales Australia"},{"name":"Department of Paediatrics Monash University  Clayton Victoria Australia"},{"name":"Clinical Sciences Monash Health  Clayton Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Braden","sequence":"additional","affiliation":[{"name":"Speech and Language Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Audiology and Speech Pathology The University of Melbourne  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Bredebusch","sequence":"additional","affiliation":[{"name":"Department of Audiology and Speech Pathology The University of Melbourne  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2739-0515","authenticated-orcid":false,"given":"Michael S.","family":"Hildebrand","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre The University of Melbourne  Heidelberg Victoria Australia"},{"name":"Department of Medicine Austin Health  Heidelberg Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2311-2174","authenticated-orcid":false,"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Batten Disease Support and Research Association Australia  Shelley Beach New South Wales Australia"},{"name":"Epilepsy Research Centre The University of Melbourne  Heidelberg Victoria Australia"},{"name":"Department of Medicine Austin Health  Heidelberg Victoria Australia"},{"name":"Department of Paediatrics Royal Children's Hospital  Parkville Victoria Australia"},{"name":"The Florey Institute of Neuroscience and Mental Health  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1147-7405","authenticated-orcid":false,"given":"Angela T.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Speech and Language Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Audiology and Speech Pathology The University of Melbourne  Parkville Victoria Australia"},{"name":"Batten Disease Support and Research Association Australia  Shelley Beach New South Wales Australia"},{"name":"Department of Paediatrics Royal Children's Hospital  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,16]]},"reference":[{"key":"e_1_2_11_2_1","unstructured":"University College London \u201cNCL Disease: Mutation and Patient Database \u201daccessed March 20 2024 https:\/\/www.ucl.ac.uk\/ncl\u2010disease\/mutation\u2010and\u2010patient\u2010database."},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199590018.001.0001"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.04.008"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/s2352\u20104642(18)30179\u20102"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102788.2001.00288.x"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62607"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2023.12.001"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813494813"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/376584a0"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812448459"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2018.05.005"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201001813\u20105"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100043\u20101770143"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2021.05.015"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.07.011"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1712649"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.2147\/tcrm.S241048"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073819895694"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2024.101060"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.15250"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2015.05.011"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.859"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2021.136117"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010018\u20100143\u2010x"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000169019.41332.8a"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03628.x"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318237f649"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010024\u201003119\u20108"},{"key":"e_1_2_11_30_1","volume-title":"Juvenile Neuronal Ceroid Lipofuscinosis, Childhood Dementia and Education: Intervention, Education and Learning Strategies in a Lifetime Perspective","author":"Tetzchner S.","year":"2019"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.06.007"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.02.017"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0302382"},{"key":"e_1_2_11_34_1","unstructured":"U.S. Department of Health and Human Services Food and Drug Administration \u201cPatient\u2010Focused Drug Development: Selecting Developing or Modifying Fit\u2010for\u2010Purpose Clinical Outcome Assessments \u201d 2022 https:\/\/www.fda.gov\/media\/159500\/download."},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.03.005"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182377e29"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2019.05.016"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.01.034"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg\u20102023\u2010109702"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14955"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg\u20102022\u2010108734"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.14299"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1177\/0115426504019004403"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469\u20108749.2009.03519.x"},{"key":"e_1_2_11_45_1","volume-title":"The Roadmap of Communicative Competence (ROCC)","author":"Sampson J.","year":"2019"},{"key":"e_1_2_11_46_1","volume-title":"Motor Speech Disorders: Substrates, Differential Diagnosis, and Management","author":"Duffy J. R.","year":"2019"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40474\u2010014\u20100017\u20103"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000009776"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1044\/1092\u20104388(2011\/10\u20100130)"},{"key":"e_1_2_11_50_1","volume-title":"Vineland Adaptive Behavior Scales\u2014Third Edition (Vineland\u20103)","author":"Sparrow S.","year":"2016"},{"key":"e_1_2_11_51_1","volume-title":"Children's Communication Checklist\u20102 (CCC\u20102)","author":"Bishop D. V.","year":"2003"},{"key":"e_1_2_11_52_1","volume-title":"Communication Matrix","author":"Rowland C.","year":"2004"},{"key":"e_1_2_11_53_1","doi-asserted-by":"publisher","DOI":"10.1177\/2326409818788382"},{"key":"e_1_2_11_54_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_11_55_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246\u2010023\u201000451\u20101"},{"key":"e_1_2_11_56_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph19105895"},{"key":"e_1_2_11_57_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813491627"},{"key":"e_1_2_11_58_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737175.2021.1885374"},{"key":"e_1_2_11_59_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A6726"},{"key":"e_1_2_11_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2019.11.005"},{"key":"e_1_2_11_61_1","doi-asserted-by":"publisher","DOI":"10.5455\/medarh.2021.75.456\u2010461"},{"key":"e_1_2_11_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0021\u20109924(01)00057\u20100"},{"key":"e_1_2_11_63_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420517"},{"key":"e_1_2_11_64_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000007773"},{"key":"e_1_2_11_65_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2021.09.004"},{"key":"e_1_2_11_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.05.021"},{"key":"e_1_2_11_67_1","doi-asserted-by":"publisher","DOI":"10.1080\/08990220802387851"},{"key":"e_1_2_11_68_1","doi-asserted-by":"publisher","DOI":"10.2466\/pr0.2002.90.3c.1129"},{"key":"e_1_2_11_69_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311\u2010024\u201001675\u20100"},{"key":"e_1_2_11_70_1","doi-asserted-by":"publisher","DOI":"10.1111\/cch.12993"},{"key":"e_1_2_11_71_1","doi-asserted-by":"publisher","DOI":"10.1590\/2326-4594-jiems-2019-0013"},{"key":"e_1_2_11_72_1","doi-asserted-by":"publisher","DOI":"10.17724\/jicna.2017.114"},{"key":"e_1_2_11_73_1","doi-asserted-by":"publisher","DOI":"10.1007\/bf00710255"},{"key":"e_1_2_11_74_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2023.1059082"},{"key":"e_1_2_11_75_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651\u20102227.2012.02680.x"},{"key":"e_1_2_11_76_1","doi-asserted-by":"publisher","DOI":"10.1017\/s1041610212001664"},{"key":"e_1_2_11_77_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201001858\u20106"},{"key":"e_1_2_11_78_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16324"},{"key":"e_1_2_11_79_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41398\u2010020\u201000877\u20104"},{"issue":"6","key":"e_1_2_11_80_1","first-page":"425","article-title":"Semi\u2010Automatic Assessment of Vocalization Quality for Children With and Without Angelman Syndrome","volume":"128","author":"Hamrick L. R.","year":"2023","journal-title":"American Journal on Intellectual and Developmental Disabilities"},{"key":"e_1_2_11_81_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689\u2010023\u201009515\u20108"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12838","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12838","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T10:09:25Z","timestamp":1754906965000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12838"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":80,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1002\/jimd.12838"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12838","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-09-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e12838"}}