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Gene link to learning disability

11th February 2009

A gene mutation has been tied to what is called nonsyndromic mental retardation, in which the person's physical appearance gives no hint of their condition.

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The mutation occurs during the child's development and is not passed on by the parents.

Jacques Michaud of the University of Montreal said that nonsyndromic mental retardation is a very common problem, involving about 3% of the population, and is the most common mental handicap in children.

He said that they now have good reason to think genes are the cause of the syndrome.

Michaud and his colleagues focused their research on a gene known as SYNGAP1.

The gene codes for a protein that the brain uses in learning and memory.

The researchers identified mutations in the gene in three children.

Michaud said that these mutations occur in children, but not in parents, and that they arise during the development of the child.

The mutations affect areas of the brain involved in the connection between neurons, and in their development and function.

When the researchers looked for the mutation in 190 people without any particular diagnosis, as well as in 142 people with autism and 143 with schizophrenia, they found no cases of it.

Michaud said that, for a lot of families, not having an explanation makes it difficult to accept the condition.

He said that having an explanation helps them to better accept the condition, since they know that the condition isn't inherited.

Michaud thinks that new educational methods may come as a result of the finding.

His long-term goal is to develop medications for children who have the disorder.

Randi Hagerman of the University of California said that it is an important piece of research, because it represents about 3% of nonsyndromic mental retardation, and that it suggests that more screening for this mutation should be done in the workup of patients.

 

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