The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions

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

Read the abstract here.

In this article, the researchers explored these questions:

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 or behavior problems?

The study explored the features seen in 16p11.2 deletions, with a focus on the effect of family background on learning, behavior, and motor skills. By measuring the performance of unaffected parents and siblings and comparing this to the performance of a child with the deletion, investigators concluded 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 Simons Searchlight and other research studies across the world, we’ve seen that the effects of a deletion are much greater in some children than in others.

The researchers wanted to show that a child’s learning, behavior, and motor abilities may be determined not just 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 affects a child.

The researchers used data from 56 families who participated in Simons Searchlight and were known to have a de novo (not inherited from either parent) 16p11.2 deletion. Each family’s data came from the child with a 16p11.2 deletion, both parents, and at least one sibling. It was important to study parents and siblings who do not have the deletion so that the researchers could understand what the family’s genetic background (the rest of the family members’ 20,000+ genes) looked like. For example, if one set of parents scored very high on one survey, we would expect their child with the deletion to score higher than a 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.

The researchers drew analogies to other scenarios in which a genetic diagnosis is known. In Down syndrome, the effect of the syndrome is different in each child because of the differences in the rest of the child’s genes, as determined by the family’s genetic background.

The researchers noted that assessment of parents and siblings is an important step in understanding the abilities of the child with the genetic change.

Want to learn more?

Read an interview with author Andres Moreno-De-Luca.