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“Alzheimer’s disease in children” is not a real medical problem. Rather, it is a term that some news organizations and others have used to describe certain symptoms that resemble symptoms of dementia in children.
Niemann-Pick disease type C (NPC) and mucopolysaccharidosis type 3 (MPS 3), or Sanfilippo syndrome, are two conditions that cause symptoms during childhood that may appear similar to those of A. Alzheimer’s. Both conditions are lysosomal storage disorders.
Lysosomes are
In people with lysosomal storage disorders, nutrients build up inside the cells, causing them to fail and die. Over time, this damage to the nervous system causes symptoms that resemble those of Alzheimer’s disease.
Keep reading to learn more about NPC and MPS 3 which some people sometimes call childhood Alzheimer’s disease, including the causes and symptoms and outlook for someone with either. .
Mutations, or changes, in specific genes cause conditions in children that can resemble Alzheimer’s disease. The genes involved determine the type of disease a person has.
NPC
In NPC, an individual inherits recessive, mutated NPC1 Where NPC2 genes of each of their parents. These genes then create distorted NPC1 or NPC2 proteins. The body needs healthy NPC1 and NPC2 proteins to transport cholesterol and other lipids out of cell lysosomes.
Cholesterol is essential for building cell membranes, steroids, and vitamins. If cholesterol cannot leave the lysosome, it cannot create these critical components.
In addition, cholesterol and other lipids can build up in the cell, causing the cell to function abnormally and eventually die.
Learn more about Niemann-Pick disease here.
MPS 3
There are four subtypes of MPS 3. The cause of each subtype is an abnormality of a specific gene: the GNS, HGSNAT, NAGLU, and SGSH Genoa.
In people with MPS 3, the genes that usually code for a particular enzyme do not work properly. This leads to a buildup of a partially broken down sugar molecule called heparan sulfate in the cells.
When these sugars build up, they gradually affect healthy cell function, leading to decline in nervous system and organ function and eventually cell death.
The symptoms a person will experience depend on their condition. However, both NPC and MPS 3 are degenerative diseases, which means their symptoms get worse over time.
NPC
If a child has NPC, he could have serious and life-threatening symptoms at a young age. Conversely, people with mild symptoms may not be diagnosed until adulthood. However, the symptoms usually affect school-aged children.
A teacher may worry about a child’s behavior because he or she may have difficulty learning and retaining new information. Children with NPC can also be clumsy and have difficulty moving their eyes up and down.
Additionally, children with CPN may experience a sudden episode of loss of muscle tone and may fall to the floor. Doctors call this gelastic cataplexy.
Adult people with NPC may have dementia-like symptoms, such as:
- inflexible thought patterns
- poor judgment
- lack of attention and insight
- mental slowness
- memory difficulties
- learning problems
Other symptoms may include:
MPS 3
Children with MPS 3 may not have symptoms at birth, and they may start showing signs of the disease during infancy.
These children can present with severe neurological symptoms, such as progressive dementia, seizures and altered behavior.
About 80-99% of people with MPS 3 have the following symptoms:
Other symptoms include deafness, loss of vision, and a larger than usual head with coarse facial features.
As the disease progresses, children with MPS 3 lose motor function and most cannot walk by age 10.
There is currently no cure for NPC or MPS 3. However, a medicine called miglustat can help slow the progression of the disease by limiting lipid production. Children should be diagnosed as early as possible for the medicine to have the best effect.
The treatment and management of these conditions focuses on improving an individual’s symptoms and quality of life.
Some management approaches focus on treating the following symptoms:
- Difficulty swallowing: If a person suffers from dysphagia, consuming liquid or soft solid foods and working with a speech-language pathologist can improve swallowing function. Doctors may recommend a gastric tube to administer food and medicine.
- Seizures: Doctors may prescribe anti-epileptic drugs, central nervous system stimulants, or antidepressants.
- Sleep disturbances: If a person has sleep apnea, they may need a continuous positive air pressure device to keep the airways open while they sleep. Doctors may also prescribe melatonin or nighttime sedatives.
- Muscular weakness: Occupational therapy and physical therapy focus on building muscle strength, and movement can help individuals improve muscle function.
A team of healthcare professionals who specialize in caring for children, brain disorders, eye problems, and digestive issues can work together to create a comprehensive plan to manage the child’s symptoms.
NPC and MPS 3 are rare conditions. For example, MPS 3 can affect
Additionally, each of these conditions involves recessive genes, which means that each parent must carry the same mutated gene. If a child receives a normal gene and a mutated gene, they will also be carriers, but usually they will not have symptoms.
If both parents have the mutated gene, the risk of passing it on to the child is 25% with each pregnancy. The probability that the child carries the gene like the parents is 50% at each pregnancy.
In addition, a child has a 25% chance of receiving normal genes from both parents. Male and female children have the same risk of transmission.
If the parents are close relatives, there is a higher risk that they both carry the same mutated gene. This in turn increases the likelihood that children will inherit a recessive genetic disease.
Both NPC and MPS 3 are progressive conditions that contribute to reduced service life.
Children with NPC have a variable lifespan which depends on the onset of the disease. Their life expectancy varies from a few days to several decades.
Children with MPS 3 also have varied life expectancies. Most people live to their teenage years and some may reach their thirties.
Childhood Alzheimer’s disease is not an actual medical condition. It is a name that some people use to refer to symptoms that affect children that resemble symptoms of dementia.
Two conditions that cause such symptoms are NPC and MPS 3, or Sanfilippo syndrome, which are rare genetic disorders.
Children with either of these conditions can exhibit a variety of symptoms that affect their learning, motor skills, brain function, nervous system, sleep patterns, and appearance.
There is currently no cure for NPC or MPS 3, and both conditions lead to a shortened lifespan. Treatment aims to improve a person’s symptoms and quality of life.
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