biostudies-literatureMorison LDBatten Disease Support and Research Association AustraliaNational Health and Medical Research CouncilVictorian Government's Operational Infrastructure Support ProgramAustralian Research Councile12838https://www.ebi.ac.uk/biostudies/studies/S-EPMC11739554biostudies-literatureUnknown48(1)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-verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.5 years (range 3-28 years); 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 years, following pre-symptomatic enzyme replacement therapy (ERT) from age 9 months. CLN2 and CLN3 diseaseJournal of inherited metabolic diseaseSpeech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.PMC117395542015727220100253117289711959552022200684120221561105008Tilbrook LBraden RBredebusch JMorgan ATVogel APHildebrand MSFahey MCMorison LDScheffer IEWhiteman ITfalseSpeech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.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-verbal communication and feeding phenotypes in 33 individuals (19 females) with a median age of 9.5 years (range 3-28 years); 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 years, following pre-symptomatic enzyme replacement therapy (ERT) from age 9 months. CLN2 and CLN3 disease2025-01-01T00:00:00Z2025 Jan2026-07-15T08:56:02.985Z2026-07-02T03:08:37.42ZS-EPMC117395543982160910.1002/jimd.12838