080210xf's Blog

L'X fragile sera vaincu | Fragile X will be conquered

Abnormal brain growth seen in children with fragile X

SFARI, Virginia Hughes

Brains of children with fragile X syndrome go through an abnormal trajectory of development in the first few years of life, according to the first study to track how the disease unfolds in the brain. The findings were published in May in the Proceedings of the National Academy of Sciences1.

Fragile X syndrome — a genetic disease that causes mental retardation and often autism — results from the complete loss of fragile X mental retardation protein, or FMRP, which is important for many brain processes. By comparing children with the syndrome and healthy controls, the new findings present a picture of when and where FMRP is expressed during early development.

“This is beautiful work,” says April Benasich, director of the Infancy Studies Laboratory at Rutgers University, who was not involved in the study. “The ability to link individual differences in the structure of the brain to some genetic precursor is extremely powerful.”

Previous imaging studies of adults and young children with fragile X syndrome have consistently shown that they have an enlarged caudate, which is important for learning and memory, compared with healthy controls and with children who have general developmental delay2. Those with the syndrome also tend to have an abnormally small cerebellar vermis, which helps maintain balance and in sensing one’s own movement3.

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