Next Generation Sequencing Helps Find Genetic Causes of Developmental Delays

Parents of children with intellectual disabilities and developmental delays greatly benefit from knowing how to best navigate the road ahead. To give them all the info they need on that journey, researchers have started looking into the power of next generation sequencing.

By exploring the genetic causes of the conditions at hand, families end up better informed about their child’s care needs, allowing them to make the best possible medical decisions. Upon recognizing that benefit, the NHS has decided that all kids with these disabilities need to have their DNA sequenced as a part of the care process.

A Look at How Genetic Changes Affect Behavior

Researchers at the University College London, Cardiff University, and University of Cambridge have come together to assist with that mission. Together, they created IMAGINE ID, a study that looks into how genetic variants impact the behavior of children.

To begin their study, they brought in 4 to 19 year old patients with a history of developmental delays and intellectual disabilities. As the largest study of its kind to date, the research helped reveal many interesting connections previously suspected but not yet scientifically proven.

The study participants were all more likely to develop co-morbid mental health conditions and other neurodevelopmental issues, for example. With that info in mind, it’s possible for parents to better respond to their children’s evolving care needs through the years.

Study Participants Show Genetic Variants in Their DNA

Even more study findings linked directly to the genetics behind the intellectual disabilities and development problems. To complete that step, they used next generation sequencing to take a look at each participant’s DNA.

Upon doing that, they found that just about 75% of the study participants had duplicated or deleted DNA sections, also known as a copy number variant (CNV). The remainder had a spelling error, or single nucleotide variant (SNV), resulting from a mistake in how the A, C, G, or T nucleotides were expressed.

Genetic Variants Link to Intellectual Disabilities and Other Major Issues

After that, the researchers looked at the compiled data regarding the participants’ intellectual disabilities, developmental delays, and other mental and physical health conditions. By doing so, they were able to assess the way the gene variants impacted behavior and the overall well-being of each child.

When compared to the general population, the children in the study were nearly 30 times more likely to get an autism diagnosis and they were 13 times more likely to have ADHD. Over 10% of the children had oppositional defiant disorder, which is more than four times higher than the average rate. Anxiety disorders affected about one in ten participants as well.

Physical health problems were common, too, including:

  • Sleep disturbances
  • Movement or motor disorders
  • Seizures

Although the children faced an overall higher risk of co-morbid conditions, their rates of childhood depression were lower than the norm. Since it’s common for depression to start later in life, that rate could change in the future.

Upon bringing all these findings to light, the researchers underlined the need for next generation sequencing screens at the first sign of a problem. Children and their families can then benefit as their doctors use the info to provide the care and support needed to overcome their health challenges.