Childhood dementia disorders cover a group of more than 100 different rare genetic conditions that cause progressive brain damage in children.¹ Signs of childhood dementia may not always be apparent from birth, and symptoms and progression of the disease can vary. Due to the progressive nature of childhood dementia disorders, over time children will lose their skills, including their ability to write, read, talk, walk and play.¹ Their brains also lose the ability to keep the body functioning properly, and eventually, to keep the body alive.²

A list of the different conditions that cause childhood dementia can be found at Childhood Dementia Initiative: Childhood dementia disorders list and the Childhood Dementia Knowledgebase.

https://youtu.be/E44qTywdS_I

There are no known synonyms.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

Please refer to the individual childhood dementia disorders for their specific classifications.

Similar to adult-onset dementia, symptoms of childhood dementia may include memory loss, confusion, difficulties concentrating, comprehending, learning and communicating, personality changes, sleep disturbances as well as behavioural and emotional issues.² Additionally, depending on the type of childhood dementia, children may also experience other symptoms, such as seizures, issues with bones, joints, cardiovascular, respiratory and digestive systems, and loss of vision, hearing and movement. The onset of symptoms can vary.

Childhood Dementia Knowledgebase has more information on specific symptoms and complications for a particular childhood dementia disorder.

Please speak to your medical team to learn more about the symptoms for a particular childhood dementia disorder.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Childhood dementia can be caused by more than 100 different genetic disorders.¹ These disorders are caused by disease-causing genetic changes (variants) in at least 400 individual genes.¹ The inheritance pattern may differ depending on the type of genetic disorder (please refer to the specific genetic disorder on the Childhood Dementia Knowledgebase for more information on inheritance). Some types of childhood dementia are not inherited but are caused by random changes in those genes prior to birth.

If you would like to learn more about the inheritance and impact of a particular childhood dementia disorder, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

The pathway to diagnosis varies between different childhood dementia disorders. Diagnosis may involve a combination of early clinical symptom assessment, brain imaging, detection of biochemical markers in urine and blood, and genetic testing.

Given the non-specificity of initial presenting symptoms, the rarity of the individual diseases and general lack of awareness in the medical community, the diagnosis of childhood dementia disorders is often delayed, sometimes for years after the first symptoms are noticed. Commonly, children are misdiagnosed with autism, developmental or intellectual delay, attention deficit hyperactivity disorder (ADHD) and others, before reaching a definitive diagnosis.

Please speak to your medical team to learn more about the diagnosis pathway for a particular childhood dementia disorder.

For most childhood dementia disorders, there are currently no effective treatments, and where therapies do exist, they are often limited to slowing the rate of disease progression.²

Childhood Dementia Knowledgebase has information on available treatments for some childhood dementia disorders.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of childhood dementia disorders may include general practitioners (GP), paediatricians, geneticists, metabolic physicians, neurologists, and allied health professionals including occupational therapists, speech therapists, physiotherapists, dieticians, psychologists and social workers. As childhood dementia is caused by a broad range of neurodegenerative diseases, the healthcare professionals involved in the treatment of childhood dementia will vary and may extend beyond those listed here.

We are not aware of any clinical care guidelines for childhood dementia disorders in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

There are no collective emergency management guidelines available for childhood dementia disorders. Similarly, each child may have guidelines regarding specific problems, like a seizure management plan or for management of movement disorders. These plans should be kept by the family and included in the medical record.

It may be important to consider the following when managing individuals living with a childhood dementia at emergency department/services:

• the emergency department environment can be confusing and frightening for children with dementia
• children with dementia can have an exacerbation of symptoms due to a new environment, but it can also be due to something else, such as pain or discomfort. A good general examination is vital to ensure there isnt something else occurring when there is an exacerbation
• childhood dementia disorders are complex and affect many systems in the body in addition to the brain. Affected children will often have a ‘team’ of people caring for them, who may be specialised in one feature. The child’s specialist care team should be contacted if possible
• children with dementia are likely to be taking multiple medications to manage their condition. Some medications are contraindicated in certain childhood dementia disorders. Expert advice should be sought before administering new medications
• childhood dementia disorders are rare and often the parents have become the experts: their knowledge and experience should be respected

Information for researchers can be found at Childhood Dementia Initiative: For researchers.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisation:

Childhood Dementia Initiative
Website: https://www.childhooddementia.org/

Childhood Dementia Initiative raises awareness of childhood dementia, provides information and resources for health professionals and researchers and drives systemic improvements in care, support and treatment.

Childhood Dementia Initiative’s Australian support service directory includes a list of disease-specific organisations.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Childhood dementia varies between individuals, and each person’s experience is unique.  

Personal stories can be found at Family Stories | Childhood Dementia Initiative.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Childhood Dementia Initiative’s Australian support services directory is a starting point for Australian families of children with dementia who are looking for access to disability, carer and palliative care services.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

• Childhood Dementia Knowledgebase – a relational database that provides key statistics for each of the 100+ conditions that cause childhood dementia
• Childhood Dementia Initiative: Resources for healthcare professionals
  • Childhood Dementia Community of Practice – free, supportive, educational platform for health and care professionals
• State of Childhood Dementia 2023 – this report explores the current state of childhood dementia across policy responses, research progress and the support available for children and families
• ‘We don’t fit’: The lived experience of families affected by childhood dementia and their interactions with care and support services – developed by international management consultancy, Nous Group, the report gives insight into ‘typical’ family experiences navigating care and support services

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Childhood Dementia Initiative.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.