Battens Disease Children

The Batten disease is also known as Neuronal Ceroid Lipofuscinoses, which is an inherited disorder. This disorder of the nervous system usually manifests itself in childhood and hence affects children at early ages. The Batten disease has been given its name after the British pediatrician who had first described it in 1903. This is basically a group of disorders and most doctors use the same term to describe all forms of NCL.

Some of the early symptoms of Batten diseases or NCL can be diagnosed or seen during childhood, when parents and doctors can see a child developing vision problems or seizures. There are times when these signs are subtle and they take the form of personality and behavior changes along with clumsiness or stumbling and even slow learning. The affected children suffer from mental impairment over a period of time and they may also get seizures.

The other problems that may follow here include progressive loss of sight and motor skills and there are instances when the children also become totally disabled and eventually this proves to be fatal. The Batten disease is not a contagious disease and it cannot be prevented also and there are different forms of NCL. There are actually 4 main categories of this disease and there is a very rare form that affects adults too. Most of the symptoms of all types are similar but they tend to diversify with different ages and progress at different rates.

The infantile NCL is also known as Santavuori-Haltia type and this begins between about 6 months and 2 years, but progresses rapidly. The children who are affected with the same fail to thrive and have abnormally small heads. They are usually short and suffer from sharp muscle contractions called myoclonic jerks. The late infantile NCL or the Jansky-Bielschowsky type starts between ages 2 and 4. There is a loss of muscle co-ordination and seizures and these children don't respond to drugs.

The juvenile NCL or the Spielmeyer-Vogt-Sjogren Batten type, affects children aged 5 to 10 and the symptoms include visual failure and motor disturbances. The adult NCL or the Kufs or Parry's type, starts before the age of 40 and results in milder symptoms that progress slowly and leads to shorter life span.

There are various other kinds of symptoms related with these diseases too and these include cases where the disease progresses more quickly and in some goes much slower. The disease is an inherited autosomal recessive pattern where the mutation causes the buildup of lipofuscins, in the tissues.

These are the elements that consist of fats and proteins, and these results in distinctive deposits that lead are visible in an electron microscope. Diagnosis of Batten disease is based on these deposits in skin samples along with various other criteria. Till date about 6 genes have been identified which lead to different types of Batten disease in children or adults. These diseases cannot be prevented and the late identification of the same is going to result in fatal consequences, in most of the cases, due to lack of curative medicines.

• Felicia Byrnes
• 21/04/2009, 6:59 PM
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