Original Research article by Andres Moreno-De-Luca, et al. (2014).


In this article, researchers explored the question:



Why do we see such a wide range of differences in people with the same 16p11.2 deletion? Why is it that the same deletion seems to cause many health and behavior problems in some children, while others have very few health and/or behavior problems?

The study explores the features seen in 16p11.2 deletions, with a specific focus on the effect of family background on learning, behavior, and motor skills. By measuring the performance of unaffected parents and siblings and comparing to the performance of a child with the deletion, investigators conclude that family background contributes to the variability and differences in symptoms seen in people with 16p11.2 deletions.

While we still have a lot to learn, we understand that the 16p11.2 deletion has an effect on brain function, intellectual abilities, social skills, and behavior. Through the Simons VIP Study and other research studies across the world, we’ve seen that in some families, it appears that the effects of a deletion are much greater in some children than in others.

This group of researchers wanted to show that a child’s learning abilities, behavior and motor abilities may not only be determined by the 16p11.2 deletion, but by the combination of all of the genes in the body. In other words, they wanted to show that the information in the child’s other 20,000 or more genes is important to consider when determining how the deletion effects a person.

In this study, the researchers used data from 56 families who participated in the Simons VIP study and were known to have a de novo (not inherited from either parent) 16p11.2 deletion. Families included the child with a 16p11.2 deletion, both parents, and at least one sibling. It was important to study parents and siblings who did not have the deletion so that the researchers could understand what the family’s genetic background (the rest of the family’s 20,000+ genes) looked like. For example, if one set of parents score very high on one survey, then we’d expect their child with the deletion to score relatively higher than another child with the deletion whose parents had a lower score. This difference in how the two children scored would be explained by their  unique familial/genetic background.

For example, the researchers talked about other scenarios when a genetic diagnosis is known, like in Down syndrome, the effect of Down syndrome is very different in each child with this same exact genetic diagnosis because there are subtle differences in the rest of the child’s genes, as determined by the family’s genetic background.

As we are doing in the Simons VIP Study, by encouraging family members with and without the genetic change to participate in completing surveys, this group suggests that assessment of parents and siblings is an important step in understanding the abilities of the child with the genetic change. (So families: it’s important for both parents, siblings, AND child with the genetic change to participate so we can continue to make comparisons, like these researchers did.)

Want to learn more?

Read an interview with the author: http://medicalresearch.com/genetic-research/parental-performance-influences-genetic-neurodevelopmental-disability/11291/

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