Research into Fragile X syndrome, the leading known cause of autism, has discovered that abnormalities which occur during brain development may explain why people with the condition experience extreme hypersensitivity.
The study was carried out by scientists at the University of Edinburgh and Northwestern University in Illinois. By using a mouse model of the condition, they sought to discover how the brain connections of people with the syndrome are different to those without.
Their research has revealed that wiring in the part of the brain that reacts to touch is late to mature in people with Fragile X. This mistiming can explain the further problems that are related to the condition.
Professor Peter Kind, from the University of Edinburgh, said that the results of this study have given scientists "valuable insight into when we should begin future therapeutic intervention on patients".
In addition, it was found that these variations to the brain’s connections happen midway through the baby’s development in the womb, which is much earlier than previously thought.
It is hoped that the advance in understanding may help in determining how the condition can be managed.
The genetic syndrome can also be characterized by symptoms such as intellectual disability, hypersensitivity, hyperactivity, social withdrawal and anxiety. It affects about 1 in 4,000 males and 1 in 8,000 females worldwide.
Fragile X syndrome occurs when a gene mutation in the X chromosome interferes with a protein which is essential for neuronal connections. The absence of this protein slows down neuronal development, but does not destroy it completely.
The research gathered from this study regarding the cause of Fragile X syndrome can also be used to further our understanding of the conditions which are linked to autism.
Autism, contrary to common belief, is not a disease but a developmental disorder. There are many syndromes, including Fragile X, which are associated with autism, such as Rett syndrome and tuberous sclerosis.
Current management techniques for treating Fragile X syndrome include speech therapy, behavioural management, occupational therapy and in some cases, medication can be used to dampen the symptoms of anxiety and hyperactivity.
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