For centuries, physicians were puzzled by a rare phenomenon. Children, often siblings, were born healthy to healthy parents.

But around six years old, they began experiencing a cognitive decline. They lost their speech, sight and motor skills. They died within a few years.

What Is Childhood Dementia?

British scientist Frederick Batten described the condition in 1903 and named it after himself. In the last 50 years, scientists have further identified Batten’s disease as a juvenile form of a neuronal ceroid lipofuscinosis (NCL) disorder, a terminal condition involving abnormal buildup in the brain.

Some call it “childhood dementia.” Although it’s far rarer than the adult version, it also causes cognitive decline in children and infants. As many as 700,000 children worldwide are living with childhood dementia, and many families have to wait years for accurate diagnoses. 

Read More: How to Diagnose Dementia

What Causes Childhood Dementia?

Childhood dementia, like Batten’s disease, is commonly due to NCL, which is caused by a genetic mutation involving the ceroid lipofuscinosis neuronal (CLN) genes. Physicians often struggle to diagnose the disease because there are 13 distinct CLN gene classifications.

The 13 types are organized from CLN1 to CLN13. The disease Batten described would now be identified as CLN3.

Confusingly, each of the 13 CLN diseases has different symptoms, so reaching a diagnosis can be a challenge that takes years. For example, early symptoms of CLN2 involve seizures and what appears to be delayed speech. Other conditions can also cause these symptoms, so children with CLN2 often don’t receive a diagnosis for two or more years.

Childhood dementia is incurable, but early detection helps parents understand what their child is experiencing and may enable them to enroll them in experimental therapies.

Read More: Alzheimer’s Disease Isn’t the Only Cause of Dementia

Is Childhood Dementia Fatal?

All of the CLN diseases are neurodegenerative, but they strike at different times in the child’s life, which means the symptoms vary. For example, babies born with the CLN10 disease often have microcephaly (smaller heads) and will only live for a few weeks.

Other CLN diseases show symptoms during the first year of the child’s life. The CLN14 gene, for example, is associated with infantile-onset. The child may seem to be developing normally, but then they begin to regress after 10 months of age. They pass milestones like being able to sit up on their own but then lose these abilities. Children with infantile-onset tend to die in early childhood.

Read More: Understanding How Dementia Causes Death

What Are the Symptoms of Childhood Dementia?

Some CLN diseases, like CLN2, don’t show symptoms until the toddler years (classified as late infantile disease onset). Seizures might be one of the first symptoms which can cause a pediatrician to suspect epilepsy or another condition. The child might also twitch or show trouble with their coordination.

In time, the child experiences a cognitive decline and loses their ability to talk, walk and control their bodies. Most children diagnosed as late-onset infantile will not live past 15 years old.

Some CLN types, like Batten’s Disease (CLN3), show symptoms when the child is school-aged, often between five and seven years old. In these instances, the child will have normal cognitive and physical development in their early years.

Juvenile onset can bring a drastic change. The child might show sudden difficulties with reasoning. Daily activities like buttoning a shirt become impossible as their motor skills deteriorate. Some children have grand mal seizures; others walk in a way that is reminiscent of Parkinson’s Disease.

Children with juvenile onset CLN will follow a cognitive decline that can remind people of dementia in older adults. The child will become forgetful and decline in their verbal and physical abilities. Children with juvenile onset typically do not live past the age of 30. 

Read More: The 4 Main Types of Dementia

How Do You Treat Childhood Dementia?

Caring for a child with dementia is stressful for parents and other caregivers. In a 2002 study in European Child & Adolescent Psychiatry, researchers asked the physicians of 80 patients with childhood dementia to complete a questionnaire.

Only 16 percent of the patients had a diagnosis before age two. The rest either experienced symptoms later in childhood or had spent years trying to learn the correct diagnosis. More than 60 percent of the physicians said they knew that childhood dementia had caused a “marked” or “extreme” impact on the family’s day-to-day functioning.

Childhood dementia can mean a once independent child becomes completely dependent on a caregiver for feeding and hygiene. The physicians noted the stress it caused on parents, but they weren’t able to offer insight as to how the siblings or extended family were managing. The study’s authors suspected the strain was wide-reaching.

Read More: How to Treat Dementia No Matter What Age You Are

Gene Therapies for Childhood Dementia

Currently, there are no cures for childhood dementia or treatments that can delay its progression. Researchers are working with experimental therapies, such as different speech therapy techniques, in hopes it can help the child maintain communication for longer.

Researchers are also working on different gene therapies to see which proteins are involved with the various CLNs and how they can be manipulated to slow or stop the disease. Some scientists have described the need to develop such gene therapies as “overwhelming,” and they hope that clinical trials can one day lead to life-saving treatments. 

Read More: How to Talk to Someone With Dementia