Animal models can explain heterogeneity

Just like no two people are the same, no two strains of mice are the same. Using dozens of different strains of mice with and without a genetic mutation associated with autism called CHD8, researchers at University of Southern California showed great variability in the effect of this mutation on behaviors associated with neurodevelopmental disorders. This can reflect the great differences across people with autism and even people with a rare genetic syndrome associated with autism. It isn’t just one gene, it’s the other hundreds of genes that can contribute to susceptibility or resilience to different features of NDDs. One thing this study did not do was overlay environmental factors, which will also significantly influence the variability seen across the different background genetics in these mice.

https://pubmed.ncbi.nlm.nih.gov/36738737/

What’s Quality of Life Got To Do With it?

This week’s #ASFpodcast highlights a new study from Dr. Elizabeth Kaplan-Kahn, who is improving a measure of Quality of Life for autistic individuals who are minimally verbal or have cognitive disabilities. These individuals may have different outcomes as other autistics, but their responses are just as important. Dr. Kaplan-Kahn talks about what it means, how it is related to other outcomes collected, and what’s she’s doing to improve Quality of Life measures.

She working to do this through scientific study! If you or a family member is non-speaking or cognitively disabled, and want to help with improving measures of Quality of Life, click here: https://redcap.link/pablid