SAS overview

What is SAS?

SATB2-Associated syndrome (SAS), also known as Glass syndrome and 2q33.1 microdeletion syndrome, is a rare genetic disorder. Symptoms are similar, but the severity varies. Globally, only ~800 individuals are diagnosed so far. Despite the rarity, the SATB2 gene is among the 10 most prevalent genes causing neurodevelopmental disorder. This may imply that many individuals with SAS go undiagnosed. The syndrome was first described in 1989 and the SATB2 gene was discovered in 2003. However, it wasn't until around 2015 diagnostics became more available to patients. 
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What causes SAS?

SAS is caused by variations - changes or mutations - of the SATB2 gene. These usually happen spontaneously at conception and are seldom inherited from a parent. Normally, we have two copies of the SATB2 gene in each cell, but in SAS one copy is missing, nonfunctional or dysfunctional.The SATB2 gene codes for the SATB2 protein, which plays an important role in the development of the brain, the jaw, the teeth and bone. Since SATB2 interacts with many other genes and proteins, even a small change can have broad implications and cause multisystemic symptoms.
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Signs and symptoms

SAS is a syndrome, meaning that specific symptoms are more common in affected individuals. The severity of symptoms can vary widely, and few (if any) individuals exhibit all symptoms. Whereas all children have developmental delay and most face significant speech issues or delays, other symptoms can be more or less frequent. Some of these symptoms are: cleft palate, behavioural challenges, dental issues, feeding and growth issues, bone fractures, epilepsy, sleep disturbances and drooling. Individuals with SAS also often present with a happy and friendly disposal.
Symptoms and Management

Management

There are currently no targeted therapies for SAS, and management is symptomatic. This means there is no cure or standard treatment for SAS. Still, there are many ways to manage health, communicative and behavioural issues. For example, many SAS individuals use sign language instead of speech, and benefit greatly from using an AAC device for communication. Medications can help with mood, behaviour, sleep, epilepsy and bone issues - but need to be tailored to the individual. Speech therapy, physical therapy and occupational therapy are also common interventions for SAS.
Symptoms and Management

The future

All SAS families worry about the future and what it will look like for their loved ones. We know from experience that SAS individuals face major challenges throughout life. But we also know that with the right support, all of them can learn new abilities and reach milestones at their own pace. At SATB2 Europe we work to improve the conditions for SAS individuals to grow and develop. Our current focus is on developing international clinical SAS guidelines and advancing research into molecular mechanisms, targeted treatments, therapies and possible technical solutions. 
What we do

The content provided by this website is for educational, communication and information purposes only and is not intended to replace or constitute medical advice or treatments. Always consult with your licensed healthcare provider.