A NEATS Analysis of Autism Spectrum Disorders

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Some children lose their diagnosis

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A NEATS Analysis of Autism Spectrum Disorders by Jane Gilgun | NOOK Book (eBook) | Barnes & Noble®

Overview The purpose of this article is to describe the various types of autism and to show how early intervention can help some children with autism gain in social and language skills. Findings indicated inter-twin differences of ASD trait severity to be more substantial for pairs with a diagnosis as opposed to twin pairs without any ASD diagnosis. ASD is considered to be a continuous spectrum of symptom severity, with those in the general population at the upper end of the spectrum to receive a diagnosis.

Thus, as disparity was only demonstrated in those with a diagnosis, authors speculated the variability in such measured ASD traits are not down to the heritability of the disorder, but other factors that may contribute. One such factor may be between-twin differences in epigenetic profiles. Over the past decade, there has been growing evidence for the role of epigenetic mechanisms in ASD.

Notably, pathological accounts associate ASD with dysregulated brain development — a process that is underpinned by epigenetic regulation 2. Syndromes such as Fragile X , Prader-Willi, Angelman, Rett, and Turner are a few in a long list of conditions where autism symptoms are commonly present. From this list, each disorder is also known to have core epigenetic involvement 4. MECP2 is a key epigenetic modulator in the brain; binding to methylated DNA to control expression and chromatin architecture of a number of genes involved in neurodevelopment.

We need to stop perpetuating the myth that children grow out of autism

Idiopathic cases of ASD are a little more complicated than the above-mentioned syndromic cases. Idiopathic cases of ASD have no known underlying cause for the disorder. Nonetheless, researchers have begun attempts to unpick the epigenetic signature unique to individuals with an idiopathic ASD diagnosis. In a recent meta-analysis of peripheral blood samples, epigenome-wide investigations pinpointed 55 differentially methylated sites that were associated with ASD 6.

The Epigenetics of Autism Spectrum Disorder (ASD)

Corroborating this, an investigation with identical twin pairs identified numerous differentially methylated regions associated between people with and without an ASD diagnosis, as well as between twin pairs discordant for ASD-related traits. Not only this, but the regions found to be differentially methylated were often those housing genes associated with ASD 7.

What is Autism? (Spectrum Disorder) Social & Motor Difficulties

Using human post-mortem samples, an international team of collaborating researchers found differential acetylation on histone H3 specifically H3K27ac in people with ASD 8. As H3K27ac is an active enhancer marker, variations in acetylation will result in differential activation of transcription of a number of genes.

Another example, demonstrated in a separate study, is the differential expression of miRNA found in ASD cases compared to controls.


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Eight in peripheral outside the brain blood serum miRNAs were found to be markedly up- or down-regulated in individuals with an ASD diagnosis.

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