What's Childhood Dementia? Dr. Domenico Pratico', MD, FCPP

Often when we think about an individual with dementia, a condition characterized by a significant decrease in memory skills and cognitive abilities, we think about someone who is typically an older adult of 65 or more, and most likely affected by a chronic neurodegenerative condition such as Alzheimer’s disease.

Surprisingly, this is not always the case since children and adolescents can also be affected by progressive cognitive decline, learning and memory problems (aka dementia) secondary to a different kind of neurodegenerative disease.

Today more than 200 different disorders are now known to negatively and permanently affect the cognitive and learning abilities of children and adolescents. They are a group of rare neurodegenerative diseases that appear before age 18 and are responsible for the loss of previously acquired skills like speech and walking.

We refer to these conditions as "childhood dementia".

Dementia is not just a matter of age. Children and adolescents can also be affected by it.

At birth in most cases there are no clinical signs, and the child typically for the first few years develops without apparent problems all the age-appropriate skills (motor and cognitive). However, depending on the form of disease there is a progressive deficit for some of them which often evolves to a total loss. Some children develop visual and hearing impairments; others may suffer from seizures. With time, the general conditions worsen leading to death within the first two decades of life.

These types of dementia are caused by hereditary genetic defects that often result in an impaired ability of the brain to build properly important elements for its normal structure and function, or in an accumulation of toxic compounds that cannot be broken down and literally engulf the nerve cells, which consequently die.

Among the most frequent:

Cerebral form of X-linked adrenoleukodystrophy

Neuronal ceroid lipofuscinoses

Alper's syndrome

Niemann-Pick type C

Rett syndrome

Sanfillipo syndrome

One of the first descriptions of childhood dementia happened about 200 years ago, when a physician described cases of childhood dementia in a family with four children who all first lost their vision from the age of six and later successively lost their speech and ability to think. The children also suffered from epileptic seizures and died. The description of their clinical aspects well matches those of the symptoms of the juvenile form of neuronal ceroid lipofuscinosis.

Dr. Otto Christian Stengel (1795-1890), was the first to describe a juvenile-onset disorder with blindness and progressive dementia.

While for most of these cases since they are genetic there is no effective therapy, there are some situations in which if recognized and treated early enough the neurodegeneration process can be halted if not completely corrected.

For instance, “cerebral folate deficiency” is a condition characterized by a defective transport systems preventing folate – an essential substance for brain function – from being transported from the blood to the brain. In this case, affected children are administered folate into the blood and directly into the cerebrospinal fluid, which, if treated soon enough, can prevent the onset of neurodegeneration and thus the disease manifestation or, once onset has occurred, slow significantly its progression.

For others effective treatment approaches also are available when, for example, the missing substances or enzymes can be given externally.

However, even though this fact is encouraging we must remember that there is no therapy that results in a complete cure for these diseases.

Working together towards the goal of giving each child the right to have a normal life.   

Like for many other diseases, but probably even more for the ones responsible for childhood dementia, an early diagnosis is crucial since it will allow early intervention when possible. With an early diagnosis there is always the best chance to prevent the clinical manifestations or at least to slow or even stop the neurodegenerative course by administering the missing or defective substances.  In fact, the earlier a treatment begins, the less the loss of neurons and thus the deficits in motor and cognitive abilities. Early diagnosis and therapy are crucial for their survival and better future life.

Understanding better childhood dementia, improving diagnosis and refining treatment options are some of the areas of investigation that are currently pursued for these less well-known forms of dementia.

To this end, scientists, clinicians and families are working together towards the goal of giving each child the right to have a normal life.   

 If you are interested in reading more of my blogs:

Check out the recent blog: A Good Diet for the Brain  ~ Dr. Domenico Pratico', MD, FCPP

Dr. Domenico Pratico' , MD, FCPP

Domenico Praticò, MD, holds the Scott Richards North Star Charitable Foundation Chair for Alzheimer’s Research and serves as a Professor and Founding Director of the Alzheimer’s Center at Temple, as well as a Professor of Neural Sciences at Lewis Katz School of Medicine at Temple University.

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