CLN3 Disease
CLN3 disease is a type of Batten disease. Batten disease is a group of genetic conditions which cause neurodegeneration.1,2 CLN3 disease may be referred to as Juvenile Batten disease. Batten disease might also be known as Neuronal Ceroid Lipofuscinosis (NCL).
CLN3 disease is a type of childhood dementia which is autosomal recessive. Autosomal recessive means that individuals need two variants in both copies of the gene. In the case of CLN3 disease, individuals have a variant in each copy of the CLN3 gene. The CLN3 gene encodes for the CLN3 protein. The CLN3 protein helps cells digest and recycle different types of cell waste.
There are some individuals with CLN3 disease that might have slower disease progression than others.1,3 Individuals usually pass away in their twenties.1
Contact
For further information, do get in touch with the CRE Speech and Language team at:
Email: geneticsofspeech@mcri.edu.au
Phone: (03) 9936 6334
Frequently asked questions
CLN3 disease is a type of Batten disease. Batten disease is a group of genetic conditions which cause neurodegeneration.1,2 CLN3 disease may be referred to as Juvenile Batten disease. Batten disease might also be known as Neuronal Ceroid Lipofuscinosis (NCL).
CLN3 disease is a type of childhood dementia which is autosomal recessive. Autosomal recessive means that individuals need two variants in both copies of the gene. In the case of CLN3 disease, individuals have a variant in each copy of the CLN3 gene. The CLN3 gene encodes for the CLN3 protein. The CLN3 protein helps cells digest and recycle different types of cell waste.
There are some individuals with CLN3 disease that might have slower disease progression than others.1,3 Individuals usually pass away in their twenties.1
In the first few years of life, most individuals with CLN3 disease will show speech and language milestones like those seen in typical development. It is usually not until after the disease begins progressing in the primary/elementary school years that speech and language disorders emerge. However, some individuals may exhibit speech and language disorders earlier in childhood.3
There is no research on speech and language interventions that are specifically designed for individuals with CLN3 disease. At present an individualised approach should be taken to assessment and management to ensure therapies are tailored to and optimised for each child.
Due to the progressive nature of CLN3 disease, individuals require an alternative way to communicate. Alternate ways to communicate are known as augmentative and alternative communication (AAC). AAC can include body movement, facial expression, on-body sign language, touch, and non-electronic (low-tech) and electronic (high-tech) communication aids.3,4 By the time an individual reaches their twenties they usually have very little verbal speech. AAC should be implemented as early as possible alongside maintaining current speech and language skills for as long as possible. AAC should also be adaptive to loss of vision and motor skills.3,5
Caregivers and support people around the child should be provided with communication partner training.6 Communication partner training may include strategies such as using simple language, breaking down instructions and tasks, using reminders and cues, providing choices, and using active listening strategies. Likewise, environmental supports should be considered to support an individual’s understanding (receptive language), reduce disorientation, and support social connection with others.7
Traditional stuttering intervention for neurodevelopmental stuttering will not be appropriate for the neurogenic stuttering that often occurs in children with CLN3 disease.
- For information on speech and language abilities and CLN3 disease, please see our CLN3 Disease Fact Sheet
- For a Plain Language Summary of our recent research on CLN3 disease, please see our Plain Language Summary.
- Batten Disease Support and Research Associations:
- Australia and New Zealand: https://bdsraaustralia.org/
- United States: https://bdsrafoundation.org/
- United Kingdom: http://www.bdfa-uk.org.uk/
- Canada: https://www.battendisease.ca/
- More information on Dysarthria: Dysarthria Fact Sheet
- More information on AAC: AAC Fact Sheet
References
- Kuper, W. F., van Alfen, C., Rigterink, R. H., Fuchs, S. A., van Genderen, M. M., & van Hasselt, P. M. (2018). Timing of cognitive decline in CLN3 disease. Journal of inherited metabolic disease, 41, 257-261.
- Masten, M. C., Williams, J. D., Vermilion, J., Adams, H. R., Vierhile, A., Collins, A., ... & Mink, J. W. (2020). The CLN3 Disease Staging System: A new tool for clinical research in Batten disease. Neurology, 94(23), e2436-e2440.
- Morison, L.D., Whiteman, I.E., Vogel, A.P., Tilbrook, L., Fahey, M.C., Braden, R., Bredebusch, J., Hildebrand, M.S., Scheffer, I.E., Morgan, A.T. (2025). Speech, language, and non-verbal communication in CLN2 and CLN3 Batten disease. The Journal of Inherited Metabolic Disease. 48(1):e12838.https://doi.org/10.1002/jimd.12838
- Elmerskog, B., Tøssebro, A. G., Atkinson, R., Rokne, S., Cole, B., Ockelford, A., & Adams, H. R. (2020). Overview of advances in educational and social supports for young persons with NCL disorders. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1866(9), 165480.
- Burkhart, L. J., & Porter, G. (2006, December). Partner-assisted communication strategies for children who face multiple challenges. In Comunicación presentada en el Congreso de la ISAAC: Düsseldorf, Germany.
- Folder, N., Power, E., Rietdijk, R., Christensen, I., Togher, L., & Parker, D. (2024). The effectiveness and characteristics of communication partner training programs for families of people with dementia: A systematic review. The Gerontologist, 64(4), gnad095.
- de Azevedo, M. C. D., Charchat-Fichman, H., & Damazio, V. M. M. (2021). Environmental interventions to support orientation and social engagement of people with Alzheimer's disease. Dementia & neuropsychologia, 15(4), 510–523.
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