According to the World Health Organization (WHO), about 303,000 newborns die within four weeks worldwide due to congenital anomalies. Birth defects are defined as structural or functional anomalies that occur during intrauterine life and can be either displayed prenatally, at birth or later in infancy. Genetic makeup has a lot to do with the birth defects, but there’s a lot we still don’t know about them. New, large study provided a useful insight into developmental disorders in children and even identified new ones. To learn more about this topic, keep reading!
Identification of New Developmental Disorder
Bearing in mind that on both national and global level, each year thousands of babies are born who don’t develop normally due to errors in their genetic makeup, Dr. Jeremy McRae and a team of researchers at the Wellcome Trust Sanger Institute carried out a study to learn as much as possible about this serious problem. Despite more than 1000 recognized genetic causes, there are many of them that yet have to be identified. The main objective of Deciphering Developmental Disorders (DDD) study was to discover diagnoses for children with developmental diseases that are currently unknown and show that new genomic technologies are able to provide improved* diagnostic tests.
In fact, DDD is the largest ever genetic study of children with previously undiagnosed rare developmental disorders. The research included 200 clinical geneticists from the NHS (National Health Service) in the UK. More than 20,000 human genes were examined; children from more 4293 families from the UK and the Republic of Ireland took part in this study. Families who participated in the research had at least one member with a severe but undiagnosed developmental disorder.
The journal Nature published results of the study wherein scientists identified 94 genes enriched in damaging de novo mutations (DNMs). What’s more, scientists discovered 14 new developmental disorders or DNMs that were previously unidentified. De novo refers to new mutations or genetic makeup that isn’t present in either parent but appear for the first time in one family member. This occurs as a result of a variant in fertilized egg or sperm.
Undiagnosed Disorders Affect Thousands of Kids
Scientists deduce that 42% of participants carried a damaging DNM in protein-coding DNA sequences. The developmental disorders caused by these mutations affect 1 in 300 children in the United Kingdom or 2000 children on a yearly basis.
Depending on the parents’ age (older parents have a higher risk of having a child with the developmental disorder), between 1 in 213 and 1 in 448 children are affected by the mutation-induced developmental disorders. So, based on these findings, about 400,000 newborn children worldwide are affected by the spontaneous mutations that were previously unknown.
The team of researchers explains that identification of these new developmental disorders will allow families to connect and get the necessary support in order to learn more about clinical management. Thanks to a large number of participants and analyzed genes, scientists were able to complete the study which would, otherwise, be impossible since these disorders are rare.
Besides families who will, now, be able to connect with others and get the necessary support, doctors will benefit from these findings too. Healthcare providers will be able to manage the child’s condition better.
Developmental disorders can, eventually, lead to conditions like epilepsy, intellectual disability, heart defects, autism, and many others. Birth defects have a major potential to affect child’s overall quality of life. Although thousands of children around the globe develop birth disorders primarily due to genetic makeup, little is known about them and many of these disorders are still unknown. Scientists from the UK successfully identified 14 new disorders thus allowing patients, families, and doctors find out more about this problem. They stress the importance of more research about these developmental disorders.