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One subtype of autism

Geoff Ferguson - July 12th 2014

Some recent research provides a clear example of one small subtype of autism that has a unique genetic association. This is a reminder that autism appears not to be one single entity, but may instead consist of several subtypes, each with its own set of contributing causes.The apparent complexity of this picture means that any attempt to reduce autism to a single cause, either genetic or environmental, may be hopelessly simplistic. It seems that our best current estimate is that both genetics and the environment are equally important in causing autism.

This recent  research, mentioned above, was reported in the Cell and involved resequencing gene CHD8 in 3,730 children who had a developmental delay or ASD. Other studies have shown that mutations in CHD8 may be associated with ASD - see, for example, this study by Eichler and others. Of the 3,730 children in the recent study, 15 were found to have a mutation in this CHD8 gene. While this is a very small proportion of the 3,730, the children with the affected gene were also found to share certain physical characteristics - a larger head size, gastrointestinal problems and distinctive facial features including a prominent forehead, wide-set eyes, and pointed chin. A control group of 8,792 children without an ASD diagnosis, including 2,289 siblings, did not have this mutation of CHD8. To test the connection between the mutated gene and observed characteristics, the researchers disrupted this gene in zebrafish and found that this mutation did lead to similar physical characteristics in the fish of larger head size and gastrointestinal problems.

It seems that mutations in CHD8 lead to a unique subtype within the larger group of autistic children. However, children with this genetic mutation were a very small minority of those children in the study diagnosed as autistic. Having the mutation significantly increases the risk of developing autism, but this one causal factor cannot account for the vast majority of the cases of autism. (Meaning that headlines such as this are completely and dangerously misleading.

The search for an overarching understanding of autism and its causes continues.


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Welcome to ourNews, where we keep up-to-date with research and other news related to infant mental health. These articles can be of interest to both parents and professionals.
We are keen to know your views and so please do comment on our articles.
Is there a topic that you would like us to write about? Just send us a message via 'Contact us'.

ourAdvice, our other blog, has brief posts with advice for parents.

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