Childhood Alzheimer's: Understanding the Science Behind NPC

The challenges of a declining mind is something that most worry about at later stages in life. The same can however not be said for little kids who are battling childhood Alzheimer’s as the symptoms come too early. As a parent, going through the accompanying symptoms of a syndrome that makes a child lose knowledge of everything they have just mastered can be saddening at the very least; their inability to speak, eat, recognize faces or even breathe further worsens the trauma.

Due to the condition of a two-year-old child diagnosed with dementia like symptoms the term childhood Alzheimer’s has been making significant headlines. Dementia is a group of symptoms. Dementia is closely associated with thinking, memory, learning and social abilities. An underlying cause of childhood Alzheimer’s is Niemann Pick Type C. These both are not directly related but associated with dementia.

The most significant part that overlaps with Alzheimer’s is cognitive dementia in NPC.  An offshoot of genetic mutation is NPC. Accumulation and build up of cholesterol and other fatty substances is induced by genetic mutation in various parts of the body as well as brain. Irregularities of cholesterol metabolism and impediments in brain function are closely related to Alzheimer’s.

Usually NPC is very uncommon and it is estimated that one in every 150,000 children are affected with it. According to experts the lack of effective and quick diagnostic procedures could be a reason for such low numbers. NPC-1 and NPC 2 are associated with NPC. On chromosome 18 both these genes are located but for 95 percent of the recorded cases, gene NPC 1 is responsible. Mutation of the NPC 1 gene causes NPC 1 symptom. Usually it is inherited from the parents who are carriers of this. Child born to parents carrying the mutation has 25 percent chances of developing NPC.

In the first few months of life the child may start showing symptoms but around the ages of 4 to 10 its neurological symptoms are more common. Some symptoms are enlarged liver or spleen, vertical gaze palsy, jaundice. According to research, the child has better ability and chances of limiting the disease progression if the neurological symptoms are revealed at later stage. But of all patients irrespective of their age, dementia is a common consequence. Dementia is accompanied with improper muscle coordination and ataxia. Swallowing and breathing is affected.

Generally the symptoms are:

• Dementia
• Seizure
• Difficulty in speech
• Liver or spleen is enlarged
• At the time of birth the child has jaundice
• Muscle tone is low
• Muscle strength is low
• In infant stage there is concurrent liver failure
• Motor development is delayed

The brain cell functions get blocked in NPC. This cause falls, loss of coordination, locomotive structures become weak, and stumbling may occur. Many may become bedridden or opt for wheelchair. There will be manifestation of trouble in moving eyes, inability to laugh or remember. In some cases due to deterioration of health death may occur.

To help in diagnosing NPC, the system now uses blood tests more often. Analysis of blood is done in those kids that have cholestatic liver disease. Using DNA sequencing the analysis is completed on blood samples.

There is no cure for this condition but some drugs have been developed. They may help in neurological deterioration. Supportive therapies are offered by available medications and these therapies may help in controlling tremors, seizures. Occupational therapies may help. No marked effect was shown on the symptoms by cholesterol diet and cholesterol reducing drugs.

A key to engaging the child and ensuring that therapy and support is received is by detecting NPC at a very early stage.