Did you know that 60 to 80 percent of people diagnosed with dementia see a progression of symptoms that eventually lead to Alzheimer’s disease? While most of these individuals are over the age of 65, there is a type that impacts younger adults too. But have you heard of a similar condition that affects babies? Called Niemann-Pick Type C, this condition can impact babies as young as a newborn.
What Is Niemann-Pick Type C Disease?
Imagine a health condition where a 2-year-old who has been enthusiastically learning new words and is starting to have full-fledged conversations suddenly starts forgetting what she has learned — that is one of the symptoms of Niemann-Pick Type C (NPC).
According to the National Niemann-Pick Disease Foundation, though this is a very rare condition that occurs in one in 100,000 children with only about 500 known cases globally, once diagnosed, a child may not survive even till their teenage years.
Is this a form of Alzheimer’s? Maybe not, but it does share some common characteristics with the precursor of Alzheimer’s — dementia. The cognitive decline is one of the main features that NPC shares with Alzheimer’s.
It has also been noticed that poor cholesterol metabolism may be a factor in both conditions because children with NPC show a build-up of cholesterol, mostly in the brain, spleen and liver, similar to patients with Alzheimer’s.
Causes and Symptoms of NPC
Studies show that NPC may be caused by the mutation of a specific gene called NPC1. To have a 25 percent chance of developing this condition, a child has to inherit this gene from both parents, who each carry the gene but are not affected by the condition themselves.
The common symptoms associated with NPC can vary depending on the age of onset:
- Before birth or infancy: If NPC develops even before a child is born or during early infancy, it can lead to chronic liver disease. Though the liver condition might be repairable, the neurological consequences that follow can impact the child’s motor skills, balance and more.
- Childhood or adolescence: NPC typically manifests during this period and is associated with powerful symptoms of dementia and a condition called ataxia or the inability to control muscle movement. This can eventually impact the child’s ability to swallow and speak.
- Adulthood: Mostly seen in young adults, this type of NPC might surface in the form of schizophrenia, bipolar disorder or other severe psychiatric problems.
Though it may present itself at different stages, the most common problems seem to be caused by severe inflammation in the brain. Experts say that as these children start losing their basic skills of sitting up, standing and walking, parents initially take it to be signs of clumsiness, which can sometimes delay a possible diagnosis.
Also, just like any other disease, symptoms manifest in varying degrees in different children. While some children may start losing their memory first, others may lose their ability to walk without help. But eventually, the symptoms combine to become a full-blown condition that can reduce a child’s lifespan drastically.
Diagnosis and Treatment of NPC
From what used to take four to five years to diagnose, the medical field now has blood tests that can identify a liver condition, which is a marker for NPC. Children who test positive undergo further tests to confirm NPC.
Once diagnosed, a child is given only up to 15 years of life expectancy and it has been noticed that the earlier the diagnosis, the worse the symptoms.
Some studies have found that miglustat, a medicine prescribed for Gaucher disease, might help slow the neurological decline caused by NPC, but the U.S. Food and Drug Administration has not sanctioned this drug for the condition.
Though there is currently no known or approved medication and cure for NPC, the advancements we have made in the medical field leave us with some hope that a cure may be found soon.
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Becker, C., & Ibanga, I. (2008, May 01). Child Alzheimer’s? Disease Attacks Twins’ Minds. Retrieved from https://abcnews.go.com/GMA/OnCall/story?id=4760023&page=1
What Is ‘Childhood Alzheimer’s’? An Expert Explains « WebMD Interviews. (2017, September 28). Retrieved from https://blogs.webmd.com/webmd-interviews/2017/09/what-is-childhood-alzheimers-an-expert-explains.html