White Sutton Syndrome (WHSUS) is a congenital (present at birth) neurodevelopmental disorder that usually has many observable symptoms. However, it can’t be diagnosed simply by cataloguing symptoms. While observing symptoms can be helpful, and diagnosis can be aided by them as well as by a thorough clinical evaluation, in the end the only conclusive diagnostic method is genetic testing. While there are a variety of genetic tests that are able to reveal the changes responsible for WHSUS, the vast majority of the time the test that is used is called Whole Exome Sequencing (WES).
Contrary to what the name implies, WES is actually a very efficient way to locate small genetic changes like the change to the POGZ gene that is responsible for WHSUS. That said, it’s not a test you can usually order yourself, so it is best to ask your doctor if any of these tests are an appropriate step in your situation. WES can also be quite expensive, although costs are coming down as this sort of testing becomes more common. The National Institutes of Health also maintains a genetic testing registry that tracks current tests that are able to be used in the diagnosis of WHSUS.
Let’s get this out of the way first: there is no cure for White Sutton Syndrome. Treatment is symptomatic, meaning that it focuses on managing various behavioral, developmental and medical issues. That said, symptomatic treatment can vastly improve the quality of life for those with WHSUS. Treatment is highly variable depending on the individual patient’s condition. It will usually involve a team of specialists. Pediatricians, gastroenterologists, speech pathologists, ophthalmologists, psychologists, applied behavioral analysts and other healthcare professionals may need to be consulted to develop a comprehensive treatment plan. It’s also important to consider psychosocial support for the entire family, since some of the behavioral problems associated with WHSUS can be tasking for everyone involved.
Symptomatic treatment addresses symptoms and support, and early intervention is key. Beginning comprehensive treatment as soon as possible helps ensure that affected children can reach their potential. Services that might help include special education, speech/language therapy, physical therapy, occupational therapy, and sensory integration therapy, in which certain sensory activities are undertaken in order to help regulate a child’s response to sensory stimuli. Medical professionals in your treatment team may also recommend additional medical, social and vocational services where appropriate.
It Takes A Team!