Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood.
Blood gene signs overlap in autism and Williams even though the kids act very differently.
01Research in Context
What this study did
Niego et al. (2021) drew blood from kids with autism and kids with Williams syndrome. They read the gene activity in those blood cells.
The team wanted to see if two very different social styles show up in shared gene patterns.
What they found
Many of the same genes were switched on or off in both groups. The overlap was big enough to spot with a lab test.
Yet the kids act almost opposite: children with autism often avoid eye contact, while children with Williams seek it. The genes were alike, but the social lives were not.
How this fits with other research
Ceylan et al. (2021) and Şimşek et al. (2021) also found odd blood chemistry in kids with autism. They looked at proteins, not genes, but the message is the same: blood can carry autism clues.
da Silva Montenegro et al. (2020) pooled over 20 000 cases and still only got a 23 % gene-hit rate. Amy’s work helps explain why: shared gene shifts may hide under different behavior hats.
Cohen et al. (2018) showed that repetitive habits in Williams look a lot like those in Down and Prader-Willi. Amy adds a gene layer: the likeness may start in the blood, not just the brain.
Why it matters
You can’t tell parents you found the autism gene, but you can say blood markers are coming. For now, use the study to remind teams that Williams and autism can share biology even when behaviors clash. Keep an eye on future blood tests; they may help you sort tricky dual diagnoses.
Want CEUs on This Topic?
The ABA Clubhouse has 60+ free CEUs — live every Wednesday. Ethics, supervision & clinical topics.
Join Free →Add Williams syndrome to your differential when a friendly, chatty child still shows autism-level rigidity.
02At a glance
03Original abstract
Autism spectrum disorders and Williams syndrome are complex cognitive conditions exhibiting quite opposite features in the social domain: whereas people with autism spectrum disorders are mostly hyposocial, subjects with Williams syndrome are usually reported as hypersocial. At the same time, autism spectrum disorders and Williams syndrome share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of people with these conditions. We found a significant overlap between genes dysregulated in the blood of patients compared to neurotypical controls, with most of them being upregulated or, in some cases, downregulated. Still, genes with similar expression trends can exhibit quantitative differences between conditions, with most of them being more dysregulated in Williams syndrome than in autism spectrum disorders. Differentially expressed genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis. Overall, these genes emerge as promising candidates for the similarities and differences between the autism spectrum disorder and the Williams syndrome socio-cognitive profiles.
Autism : the international journal of research and practice, 2021 · doi:10.1177/1362361320965074