Gene Mutation Linked to Distinct Type of Autism

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The UK’s NHS Choices provides a valuable service in debunking some of the ‘imprecise’ reporting around major health issues, including those linked to conditions like autism.

On this occasion its target was a tabloid story headlined ‘Have scientists found the autism GENE? Breakthrough as specific link between DNA and the condition is discovered’, which appeared in the Mail Online. The story was based on a genetic study originally published in the journal Cell that found children with autism spectrum disorder (ASD) were more likely to have a mutation in a gene called CHD8 than children without the disorder.

Researchers sequenced the DNA of 3,730 children with development delay or ASD looking for variations in the CHD8, a gene previously associated with ASD. They looked to see if any genetic variations were associated with being diagnosed with ASD overall, but also for any links to specific characteristics of subsets of people with ASD.

The genetic analysis revealed 15 different and independent genetic variations (mutations) in the CHD8 gene in the children with development delay or ASD. Specific CHD8 mutations were also associated with distinct characteristics, but as this aspect of the research only involved 15 people with ASD, the results ‘cannot be viewed as reliable’.

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Special World, from Inclusive Technology, is a free website linking 125,000 special education teachers, speech therapists and occupational therapists in 150 countries. Special World readers and contributors work with children who have additional needs or special educational needs including those with severe, profound and multiple learning difficulties and disabilities.

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