Small head, speech delay linked to mutations in Dyrkia gene

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Children with mutations in a gene called DYRK1A, a leading autism candidate, have a distinct set of features, including intellectual disability, speech delay, motor problems and a small head.

These features set apart children with these mutations from those who have other forms of autism. Researchers reported the unpublished findings Friday at the at the 2017 International Meeting for Autism Research in San Francisco, California.

DYRK1A sits in a stretch of chromosome 21 that is duplicated in children with Down syndrome. It is best known for its contribution to intellectual disability and in a 2012 sequencing study. Since then, it has become one of the top candidate genes for the condition.

In a 2015 study, researchers characterized 15 children with harmful mutations in the gene and reported that the children have a distinct set of features, including intellectual disability and a small head.

In the new work, the same team examined 61 children with the mutations, including 10 children they characterized at their clinic. These children also share the same set of features, says Rachel Earl, a graduate student in Raphael Bernier’s lab at the University of Washington in Seattle, who presented the findings.

In the new work, the same team examined 61 children with the mutations, including 10 children they characterized at their clinic. These children also share the same set of features, says Rachel Earl, a graduate student in Raphael Bernier’s lab at the University of Washington in Seattle, who presented the findings.

“We’re seeing this constellation of features that I think is very clinically relevant for understanding and really identifying these kids who are coming through our clinic,” she says.

“It’s a lovely bit of research,” Sanders says. “I’ve seen enough of these now that I expect to see syndromic things going on for each mutation, and they’ve done a beautiful job of defining it.”

Of the 61 children in the study, 42 were assessed for autism either directly or in their medical history; 18 of the 42 — or 43 percent — have an autism diagnosis.

When the researchers limit their analysis to only children who have had a full clinical assessment, the proportion of diagnosed children goes up to 70 percent. Some doctors
may find it difficult to diagnose autism in children with such a broad range of medical concerns, Earl says.