Oral Presentation International Congress on Neuronal Ceroid Lipofuscinoses 2025

Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease (124792)

Lottie D Morison 1 2 , Ineka T Whiteman 3 4 5 , Adam P Vogel 2 6 , Lisa Tilbrook 7 , Michael C Fahey 8 9 , Ruth Braden 1 2 , Joanna Bredebusch 2 , Michael Hildebrand 10 11 , Ingrid E Scheffer 3 10 11 12 13 14 , Angela T Morgan 1 2 3 12
  1. Speech and Language, Genetics Theme, Murdoch Children's Research Institute, Parkville, Victoria, Australia
  2. Department of Audiology and Speech Pathology, The University of Melbourne, Parkville, Victoria, Australia
  3. Batten Disease Support and Research Association Australia, Shelley Beach, NSW, Australia
  4. Batten Disease Support, Research and Advocacy Association, Columbus, Ohio, USA
  5. Beyond Batten Disease Foundation, Austin, Texas, USA
  6. Redenlab Pty Ltd, Melbourne, Victoria, Australia
  7. Thrive Health Care, Port Pirie, South Australia, Australia
  8. Department of Paediatrics, Monash University, Clayton, Victoria, Australia
  9. Clinical Sciences, Monash Health, Clayton, Victoria, Australia
  10. Epilepsy Research Centre, The University of Melbourne, Heidelberg, Victoria, Australia
  11. Department of Medicine, Austin Health, Heidelberg, Victoria, Australia
  12. Department of Paediatrics, Royal Children's Hospital, Parkville, Victoria, Australia
  13. The Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia
  14. Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia

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, apart from 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 disease had different profiles. For CLN2 disease, all affected individuals showed language impairment with dysarthria; older individuals with classical disease progressively became non-verbal. 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 (p>0.99), yet participants with CLN3 disease had stronger expressive language than receptive language skills (p=0.004). Speech, cognitive and language impairment and adaptive behaviour showed progressive decline in both diseases. Individuals with pre-symptomatic 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. 8/33 (24%) participants were tube fed: 5 with classical CLN2 disease, 2 with atypical CLN2 disease, and 1 with CLN3 disease. Though 14/33 (42%) individuals had been introduced to AAC, none used AAC as their primary communication mode. Individuals with Batten disease require tailored speech therapy incorporating AAC, communication partner training, utilising environment adaptations, and informal communication behaviours.