Childhood Alzheimer's: Diagnosing And Treating This Rare Condition

Childhood Alzheimer's is sometimes used to label rare conditions that cause dementia-like symptoms in children. While this type of childhood dementia is not the same as Alzheimer’s disease in adults, it has many of the same symptoms, which is how it got its name. The conditions that cause childhood Alzheimer’s are rare but progressive. While there is no cure, treatment may help mitigate the effects of these conditions. Below, explore symptoms and treatment options. 

Childhood Alzheimer’s can be a devastating diagnosis

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Childhood Alzheimer's disease

Childhood Alzheimer’s disease is not a single unique disease but a name sometimes given to two childhood diseases that cause dementia-like symptoms similar to Alzheimer’s: Niemann-Pick disease type C and Sanfilippo syndrome. Both are progressive diseases, meaning they worsen over time, and the person will eventually die.

Niemann-Pick disease type C (NPC)

Niemann-Pick disease type C (NPC) is a rare genetic disorder that impacts the body’s ability to transport cholesterol and other fats inside of cells. In this lysosomal storage disorder, fats accumulate in various tissues, including the brain, causing damage to the affected areas. 

NPC can vary significantly from one case to another. Some cases are fatal in the first few months after birth, while others can go undiagnosed until symptoms begin to appear in adulthood. Most people who have NPC are diagnosed during childhood and develop life-threatening complications in their 20s or 30s. 

Sanfilippo syndrome or mucopolysaccharidosis

Like other lysosomal storage disorders, Sanfilippo syndrome results from the body’s inability to break down certain substances within lysosomes, the part of cells that contains digestive enzymes. In this genetic syndrome, the body cannot break down a complex carbohydrate called heparan sulfate, so it accumulates in the tissues. 

Sanfilippo syndrome primarily affects the central nervous system, the brain, and the spinal cord. Symptoms typically appear between ages one and four and can include speech and language delay, aggression, intellectual disability that worsens over time, and non-specific developmental delay. This condition can have other symptoms, including sleep disturbances, coarse facial features, frequent diarrhea, constipation, and hearing loss.

Alzheimer’s disease vs. childhood Alzheimer’s disease?

Alzheimer’s disease and childhood Alzheimer’s are two different conditions, but they do have various symptoms in common. 

Similarities

Both types of dementia have similar symptoms, including confusion, memory loss, personality changes, emotional issues, and difficulty concentrating. The causes of these conditions differ, but both have a genetic component.

Differences

In adults, Alzheimer’s disease is caused by the buildup of a protein called beta-amyloid in the brain. NPC and Sanfilippo syndrome are caused by fats and heparan sulfate accumulation, respectively.

Symptoms of childhood Alzheimer’s

Symptoms of childhood Alzheimer’s vary depending on the underlying cause and its progression. Both of these conditions are considered fatal diseases and significantly impact life expectancy.

NPC symptoms

NPC can have early symptoms but can arise at different times, from shortly before or after birth to adulthood. This condition affects the brain and various organs, but symptoms arise at different times and progress independently. The onset and progression can vary depending on the age of onset. 

The following are possible symptoms of NPC. However, not everyone with this condition will develop all of these symptoms. Some people will develop severe, life-threatening symptoms early on, while others may have mild symptoms that do not appear until childhood. Those who develop symptoms shortly before or after birth may experience a variety of symptoms, including fluid in the abdomen, low muscle tone, jaundice, and failure to thrive. Older infants and toddlers under age two may experience muscle weakness, an enlarged liver or spleen, delayed milestones, speech delay, and difficulty moving the eyes up and down. 

Children between the ages of two and six may experience the symptoms listed above, as well as mild developmental delays, clumsiness, trouble swallowing, seizures, sudden muscle weakness, and hearing loss. Juveniles between the ages of six and 15 may also have the above symptoms, as well as loss of language skills, poor school performance, slurred speech, and behavioral problems. 

Adolescents and adults over 15 can develop any of the symptoms above, as well as cognitive decline, dementia, psychiatric issues, tremors, and sleep disturbances. End-stage symptoms include aspiration pneumonia, respiratory failure, and uncontrolled epilepsy. 

Sanfilippo syndrome symptoms

Depending on what enzyme is affected, there are several types of Sanfilippo syndrome, and symptoms and their severity can vary. Each child's experience will also vary. The first symptoms can appear in newborns and infants, including coarse facial features, like broad, prominent eyebrows, excessive body hair, and a large head. These symptoms may not be noticeable when the child is this young but generally become more pronounced as they age. 

Between ages one and four, children with this condition may develop colic-like episodes and frequent diarrhea. They may develop a non-specific developmental delay that worsens over time. They may exhibit aggressive or destructive behavior, temper tantrums, and a lack of fear. Sleeping problems and excessive chewing, swallowing, or biting may develop. Seizures can also occur. 

Some physical symptoms include hearing loss, recurring ear infections, chronic nasal congestion, and abdominal issues, like constipation, diarrhea, and loose stools. Other physical symptoms may include scoliosis, abnormal heartbeat, and joint stiffness.

Risk factors for childhood Alzheimer’s disease

No modifiable risk factors for the conditions that cause childhood Alzheimer’s exist, but parents and caregivers may make themselves aware of the following. 

Risk factors for NPC and Sanfilippo syndrome

Both diseases that cause childhood Alzheimer’s are inherited genetic diseases. The primary risk factor is having a family history of NPC or Sanfilippo syndrome.

Diagnosis for Sanfilippo syndrome and Niemann-Pick disease type C

Because these conditions are so rare, they may not be diagnosed until the later stages. Generally, genetic tests can give a definitive diagnosis.

Sanfilippo syndrome diagnosis

Several tests can be used to confirm a diagnosis of Sanfilippo syndrome. Urine tests may show elevated heptane sulfate but can have false negatives. More definitive testing can include a genetic panel test for markers of Sanfilippo syndrome or an enzyme activity test that analyzes the enzymes in the blood.

Niemann-Pick disease type C diagnosis

Experts on NPC have developed a Suspicious Index Tool to help doctors unfamiliar with NPC diagnose this condition, but laboratory tests are used to confirm a diagnosis. While other methods were used in the past, genetic testing for biomarkers and molecular sequencing are used today. 

How this condition affects cognitive and neurological development

These conditions can have varying effects on development depending on the onset and severity of the underlying condition. Both NPC and Sanfilippo syndrome are progressive; however, most children or adults with these conditions will experience more and more severe symptoms over time. 

Developmental delays in childhood Alzheimer’s disease

Childhood Alzheimer’s can lead to developmental delays in many areas. As the disease progresses, those affected will experience severe memory loss, a lowered attention span, and increasing difficulty learning new information. They will also develop problems with language expression and comprehension, either not developing these skills or experiencing regression as the disease progresses. 

Motor skills can also be impacted. They may develop problems with balance and coordination, including the loss of fine motor skills and a progressive decline in gross motor skills, eventually losing the ability to walk. 

Ongoing research 

Many clinical trials are ongoing to find a cure for these rare childhood diseases, and some advances have been made. The first treatment for NPC was approved in 2024, involving a combination of an oral medication and an enzyme inhibitor. Some of the potential advances for Sanfilippo syndrome include the following: 

• Enzyme-replacement therapy, which provides the missing enzyme that can help the child break down heparan sulfate
• Gene therapy to repair the gene that causes the enzyme deficiency
• Sulfate-reduction therapy to inhibit the production of heparan sulfate
• Stem-cell therapy to overproduce the missing enzyme

Taking care of your mental health

If you have a child with NPC or Sanfilippo syndrome, managing daily medical needs, coming to terms with the diagnosis, and taking care of your own mental health can be difficult. Working with a mental health professional can help you find healthy ways to grieve and coping skills to manage daily challenges.

Childhood Alzheimer’s can be a devastating diagnosis

Talk to an empathetic therapist

Getting mental health support

Parents caring for a child with physical and mental health needs may worry that they don’t have the time or energy to travel to a traditional face-to-face therapy appointment. Online therapy can be more accessible for these families. With an online therapy platform like BetterHelp, you can meet with a professional from the comfort of your home or anywhere you have an internet connection, and all you need is a computer, phone, or other personal device. Many people who sign up can be matched with a provider in as little as 48 hours, so you can get started soon.

Research has found that online therapy can be effective for treating multiple challenges, including grief, with one study finding that it could help people learn to manage not only symptoms of grief but also depression and post-traumatic stress disorder (PTSD) after a loss.