Genetic insights may help kids battling developmental delays

There's new hope for children stricken by mysterious developmental delays, with a new study showing that extensive genetic analysis may help determine the cause of their disability. Canadian researchers found a precise genetic cause for seven out of every 10 children suffering from a previously undiagnosed condition that caused developmental delays. In many cases, the genetic analysis led to groundbreaking discoveries. Researchers discovered 11 new disease genes linked to developmental delays, and described new physical traits and symptoms for a number of known diseases.
And based on the new genetic diagnosis, doctors were able to offer targeted treatments in four of 10 cases, said senior researcher Dr. Clara van Karnebeek. She is a pediatrician and biochemical geneticist at BC Children's Hospital and principal investigator with the Center for Molecular Medicine and Therapeutics at the University of British Columbia.
The genetic analysis led to "better clinical practice and, most importantly, potential better outcomes for these children who, if they went undiagnosed, would often develop severe impairment and never have an opportunity to improve," van Karnebeek said.
Much of the time, the children's condition improved by giving them vitamin supplements or by altering their diet or medication regimen, she said.
The findings were published May 25 in the New England Journal of Medicine.
In the study, van Karnebeek and her team focused on children suffering from developmental delays tied to metabolic problems -- signs that the cells in their bodies were struggling to convert proteins, carbohydrates and fats into energy.

    HealthDay

Genetic insights may help kids battling developmental delays

Theres new hope for children stricken by mysterious developmental delays, with a new study showing that extensive genetic analysis may help determine the cause of their disability. Canadian researchers found a precise genetic cause for seven out of every 10 children suffering from a previously undiagnosed condition that caused developmental delays. In many cases, the genetic analysis led to groundbreaking discoveries. Researchers discovered 11 new disease genes linked to developmental delays, and described new physical traits and symptoms for a number of known diseases. And based on the new genetic diagnosis, doctors were able to offer targeted treatments in four of 10 cases, said senior researcher Dr. Clara van Karnebeek. She is a pediatrician and biochemical geneticist at BC Childrens Hospital and principal investigator with the Center for Molecular Medicine and Therapeutics at the University of British Columbia. The genetic analysis led to better clinical practice and, most importantly, potential better outcomes for these children who, if they went undiagnosed, would often develop severe impairment and never have an opportunity to improve, van Karnebeek said. Much of the time, the childrens condition improved by giving them vitamin supplements or by altering their diet or medication regimen, she said. The findings were published May 25 in the New England Journal of Medicine. In the study, van Karnebeek and her team focused on children suffering from developmental delays tied to metabolic problems -- signs that the cells in their bodies were struggling to convert proteins, carbohydrates and fats into energy. HealthDay