Mutations That Change Your Heart and Your Brain

Thirteen percent of newborns with congenital heart disease (CHD) also have¬†congenital abnormalities that don’t affect the heart. This is twice the rate at which they appear in newborns without heart problems. Infants with CHD are also at an increased risk of neurodevelopmental disorders later in life, like motor, social, language, and cognitive impairments.

These elevated risks were thought to be caused by poor circulation during gestation or the stresses imposed by postnatal therapies. But a new study suggests that both types of abnormality are actually due to mutations in genes highly expressed in the developing heart and brain. Results are published in Science.

Source: Mutations that change your heart and your brain

Interventions in early development often require referral during the first three years, but due to variability in early development, a child may effectively “fly under the radar” because they are mildly delayed, but showing just enough progress to be deferred until later. Many pediatricians may not make an early referral for these reasons and the child may show up for a first developmental evaluation (specialist) around age 4 or 5 years. By this point a lot of opportunity has been missed and other skills (e.g., social skills) may begin to lag behind due to increased frustration and aggression (and lots of disciplinary incidents).

This knowledge may help flag a child as being at greater risk and result in earlier pediatrician referrals, thus catching the problem earlier.