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A relatively new neurological condition known as Niemann-Pick type C disease had hit the headlines recently. This condition caught the attention of many because it shows Alzheimer's like symptoms in young kids, which was shocking to many. Numerous studies have been conducted on this regard. And as always, we at Boldsky strive to keep you updated with anything new. Here, we bring you a low-down on this condition...
Alzheimer's is a condition where there are abnormal levels of a protein called beta-amyloid in the brain, which forms clumps and blocks the brain signals from moving around. This results in the decrease of mental functions. People with Alzheimer's usually have difficulty in recalling simple things and also find it difficult to make new memories. Though childhood Alzheimer's shows symptoms of Alzheimer's, they have very less in common.
What Is Niemann-Pick Type C Disease?
Niemann-Pick Type C disease is a genetic and neurodegenerative disease. For those of you who haven't paid attention in their biology classes, our cells have a separate a sack-like organ in our cells called as lysosomes. They are responsible for breaking up of cholesterol and sugar and converting it to a much simpler form for our body to use.
When the lysosomes are missing or do not perform their functions, these nutrients hoard the cells. Eventually, cholesterol and other fatty substances start building up in various parts of the body including the brain, which results in cognitive decline.
Niemann-Pick Type C Disease affects children as young as 5 months of kids above 15 years. Each child may show different symptoms as the disease progresses. Therefore, most of the times, the condition is not diagnosed until it is in the later stage.
Why Is It Called Childhood Alzheimer's?
Though Niemann- Pick Type C Disease and Alzheimer's are quite different when it comes to causes, there are a lot of similarities between them. For starters, both these diseases are genetic and neurodegenerative. They result in cognitive decline due to deterioration of brain cells. Both these conditions also progress over time, leading to dementia. These similarities have led to the condition to be known as childhood Alzheimer's.
What Causes Childhood Alzheimer's?
Over 95% of the cases of Children's Alzheimer's is caused due to a genetic mutation, often carried from either parent. Two particular genes affected by the disease are NPC1 and NPC2. These genes are largely known to carry out important functions inside the cells.
When these genes are mutated, the functions of cell organs, particularly lysosomes are affected, due to which they may not synthesise cholesterol and other fatty acids properly. This leads to the build-up of these substances in various parts of the body, giving rise to childhood Alzheimer's.
How Is Childhood Alzheimer's Diagnosed?
If the child is affected with Niemann-Pick type C disease, the major signs of it are enlarged spleen and liver, where the excess cholesterol is stored initially. Common signs of the onset of Niemann-Pick type C disease include no co-ordination between hands and eyes, unsteady walking, lured speech or even difficulty in swallowing. It is also important to let your doctor know of any family history of any genetic conditions.
This condition is extremely rare, which makes it a little difficult to diagnose as all these symptoms can be confused with other conditions as well. Therefore, to reach an exact diagnosis, doctors perform a biopsy of the liver cells, which may reveal the amount of cholesterol present in it. Genetic testing also is an accurate way of properly diagnosing childhood Alzheimer's.
How Is Childhood Alzheimer's Treated?
Unfortunately, childhood Alzheimer's cannot be completely treated as it a genetic condition. Typically, children affected with childhood Alzheimer's live for about 10-15 years or even more depending on the ways in which they manage the condition.
Since the research on the condition is relatively new, the drugs which are commonly used to treat Alzheimer's, are used in this case as well, though most of them are not approved by the government.
However, standard therapies are increasingly being considered to manage the disease though it may be difficult to seek therapy for every problem faced by the child. Parents are often requested to get genetic testing done in order to avoid complications in future pregnancies.