An urgent need for change
Dementia is something that is usually associated with older people. However, children, teenagers and young adults can experience dementia as a result of a number of rare diseases and conditions. Niemann-Pick disease type-C, Batten disease and Mucopolysaccharide diseases are examples of these diseases.
Delayed diagnosis is particularly harmful as the brain damage caused by the disease is irreversible. The low level of awareness of childhood dementia among MPs1 presents a challenge for the community because it means policy is slow to change to better serve the needs of families and children.
According to a survey of people living with a rare disease, including Batten disease, it takes on average 5.6 years in the UK for a patient with a rare disease to receive a proper diagnosis.2
In addition, a lack of research into the prevalence of all types of childhood dementia means the total number of children in the UK affected remains unknown, and this makes it difficult to accurately assess needs.
This is why the Dementia Strikes Children Too campaign is fighting to:
Raise much-needed awareness of childhood dementia
Drive for better clinical education of the disease, including research into prevalence across the UK
Put in place systems and tools to aid earlier diagnosis
Together, the families and patients have co-developed this campaign, alongside Niemann-Pick UK (NPUK), the Batten’s Disease Family Association (BDFA) and the Society for Mucopolysaccharide Diseases (MPS Society), with the support of biopharmaceutical company BioMarin, in order to reflect the needs of real children living with this group of diseases.
What is childhood dementia?
Childhood dementia is an ultra-rare group of neurological diseases, all causing similar symptoms and irreversible brain deterioration.3-5
- Dementia showcases itself as the unexpected deterioration of brain function. This deterioration is most often associated with adult diseases like Alzheimer’s disease, and is often overlooked in regards to those diseases affecting children.3
- It is usually caused by four main diseases which are the result of a genetic mutation. Neuronal Ceroid Lipofuscinoses (NCLs), Lysosomal Storage Diseases (LCDs) – such as Niemann-Pick disease type-C and Mucopolysaccharidoses – and Leukodystrophies are all diseases which present as childhood dementia.4
- For many forms of childhood dementia, what initially presents itself as recurring seizures, develops into irreparable brain damage, dementia, epilepsy, blindness and loss of motor functions like swallowing.3-5
- Niemann-Pick disease type-C (NP-C) mainly affects school-age children, but can occur at any time, from early infancy to adulthood.6
- NP-C is caused by an accumulation of lipids (fats) in the liver, brain and spleen.7
- Early diagnosis of childhood dementia is often missed due to the unspecific early symptoms which are often mistaken for other diseases. 3, 9-10 Delayed diagnosis is particularly harmful to the children as the brain damage caused is irreversible.
- Children diagnosed with the classical form of CLN2, which is an NCL, have a life expectancy of 8-12 years.3
- Children diagnosed with other forms of childhood dementia often don’t survive past teenage years.4,11
- Consistent palliative care, such as appropriate medication to treat symptoms, physiotherapy, and adequate counselling for families of patients with childhood dementia presents a significant challenge, with few expert reference centres in Europe, limited knowledge of the diseases among physicians, and a lack of comprehensive treatment guidelines.3
- Early indicators and tools to recognise childhood dementia continue to be developed.3
- YouGov, MP Survey, January 2018. Data on file.
- Rare Disease Impact Report: Insights from Patients and the Medical Community. Shire. Available at: https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf Last Accessed: March 2018.
- Lutan, C. and Greenop, C. Creating a framework for Diagnosis, Care and Treatment for Childhood Dementia, Expert Group Report, 2016
- Evans, H. and Hendriksz, C. Niemann-Pick type C disease – the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment. BJPsych Bulletin (2016) 1-6
- Guide to Understanding Mucopolysaccharidosis III (MPS III) Sanfilippo Disease. MPS Society. 2013. Available at: http://www.mpssociety.org.uk/wp-content/uploads/2016/07/guide-mpsiii-2013-web-1.pdf Last accessed: March 2018.
- Rarer Types of Dementia. Alzheimer’s Society. Available at: https://www.alzheimers.org.uk/info/20007/types_of_dementia/108/rarer_types_of_dementia/5 Last Accessed: March 2018.
- Niemann-Pick disease type-C. Niemann-Pick UK. Available at: http://www.npuk.org/niemann-pick-disease/ Last Accessed: March 2018.
- Kohlschutter, A. and A. Schulz, CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). Pediatric Endocrinology (Diabetes, Nutrition, Metabolism) Reviews, 2016.
- Nickel M, Jacoby D, Lezius S, et al. Natural history of CLN2 disease: quantitative assessment of disease characteristics and rate of progression. Poster session presented at the 12th Annual WORLD Symposium; February-March 2016; San Diego, CA.
- Schulz A, Miller N, Mole S.E., et al. Neuronal ceroid lipofuscinosis-2 (CLN2) natural history and path to diagnosis: International experts’ current experience and recommendations on CLN2 disease, a type of Batten disease, resulting from TPP1 enzyme de ciency. Eur J Paediatr Neurol. 2015;19:S119.
- Mucopolysaccharidosis type II. Genetics Home Reference. (2018) Available at: https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii. Last Accessed: March 2018.
Job code: EU/CLN2/0298. Date of preparation: March 2018