Uncovering the Causes of Developmental Disorders

Posted On: 12-07-2018
Uncovering the Causes of Developmental Disorders
In the U.S., thousands of babies are born each year with a developmental disability that can contribute to learning problems, heart defects, seizures, and more. The Deciphering Developmental Disorders (DDD) study looked at the genetic makeup that could point to diagnoses for children with disorders that are not yet known.

While up to half of these developmental disability cases are thought to be caused by new gene mutations only present in one parent’s egg or sperm, it was unknown how many could be caused by recessive genes (where a patient needs to inherit a genetic variant in the same gene from both parents).

The study, published in the journal Science, revealed that only a small fraction of rare and undiagnosed developmental disorders in the British Isles were caused by recessive genes. The study also revealed two new recessive genetic conditions, providing two families with diagnoses.

The study was conducted by researchers from the Wellcome Sanger Institute and involved sequencing the genes of approximately 5,500 patients with rare developmental disorders. The researchers developed a new method to analyze the data and identify recessive causes. New mutations and recessive genes accounted for about 55% of patients in the study, combined. This means that the causes of nearly half of those cases are still unknown.

Understanding the cause of a developmental disorder helps parents and doctors. For parents, it’s helpful to know what caused a developmental problem, and to be able to seek out other affected families for support and advice. For doctors, it leads to a better understanding of risk in pregnancy and even personalized risk predictions for families.

See Related Articles

A Guide to Successful Toilet Training

Most children are ready to begin toilet training around thre ...
Posted On: 11-18-2016
read more

A Parent’s Guide to Food Aversions & Weight in Children

If your child is not gaining weight normally, it can lead to ...
Posted On: 06-10-2016
read more

Abdominal Discomfort in Babies

If your baby seems fussy and is drawing up his legs in pain, ...
Posted On: 09-02-2016
read more

ADHD More Likely to Be Missed in Minority Children

Attention deficit hyperactivity disorder is often characteri ...
Posted On: 08-26-2016
read more

Alarming Rates of Childhood Obesity

A new study reports that childhood obesity throughout the wo ...
Posted On: 10-13-2017
read more

Behavioral Characteristics of Children With Epilepsy

Epilepsy is a seizure condition, and while 2.5 million Ameri ...
Posted On: 07-01-2016
read more

Blood Tests to Detect FASD Could Be Possible

A new study published in POLOS ONE shows that a certain bloo ...
Posted On: 11-11-2016
read more

Can an App Improve Social Skills for Children with ASD?

A small clinical trial published in JAMA Pediatrics suggests ...
Posted On: 03-08-2019
read more

Children & Excessive Energy

Your child is likely to have more energy than you do, especi ...
Posted On: 09-23-2016
read more

Related Doctors

View All

Surgical Procedures

View All

Be Healthy

View All

Health News

Watch & learn

View All
Please enter required fields.
Subscription Successful.
Already Subscribed.
Enter Valid Email Address.