Females Protected From Autism, Study Shows

A study, discussed in Science Daily, shows that females are much more resilient to autism than men. The research shows that the mutation for autism and developmental delay in females is much larger in their genomes, suggesting that females are protected neural development disorder more so then males. Inherited mutations are much more likely to be passed from an unaffected mother than from a father. Together, this suggest females require more mutational load, or more mutational hits that are sever to push them over the edge.
When beginning this research a portion of the genome, called copy number variants (CNV), was examined in a group of boys and girls with autism. The CNV section of the genome had either large duplications or deletions of the region and was much larger in the girls than boys. When the CNV section become too large it endangers important genes for neural development that are near by and girls were three times more likely then boys to carry CNV that encompass these genes. Females with autism also carry a slightly more rare mutation that change a single DNA nucleotide which is much more dangerous because it impacts the function of the protein.




It is unclear if this research is gender bias, or simply a reflects a different diagnosis. Females tend to compensate for their symptoms in different ways and actions than males. The question left with the researchers is what part of brain development makes it that females are more protected than males. The only explanation so far is that males only have one X chromosome that is hypersensitive to mutations and several autism mutations are located on the X chromosome.
For more information on autism, visit Autism Speaks.