What is SAS? | For Families & Caregivers

What is sas?

For families & caregivers

important to know

It is an inherited genetic condition

SAS is a genetic disorder. In most situations, only a single person in the family is affected.

Affects development and other organs

People with SAS have developmental delay and can have compromise of other organs.

Diagnosis can be delayed

SAS can be mistaken for other neurodevelopmental conditions. Earlier access to genetic testing can facilitate the diagnosis.

Treatment is symptomatic

Management of the syndrome is centered around the symptomatic treatment of some of the manifestations and surveillance for potential medical complications. Therapy services to maximize the individual’s potential are also paramount.

WHAT IS SATB2-ASSOCIATED SYNDROME?

SATB2-associated syndrome (SAS) is a genetic disorder characterized by developmental delay/intellectual disability with absent or limited speech, behavioral problems, and abnormalities of the palate (roof of the mouth) and teeth. SAS has also labeled “Glass syndrome” after Dr. Ian Glass who described an individual with this condition back in 1989. Other names sometimes used to describe this condition include “2q33.1 microdeletion syndrome” or “2q32 deletion syndrome” when a copy of the SATB2 gene is missing (deletion).

Dr. Zarate speaking at the 2nd international SAS family meeting, 2018.

View video on Youtube
HOW DOES SAS OCCUR?

In people with SAS, a copy of the SATB2 gene, a very important gene for the proper development of brain, bone, teeth, and palate, is damaged. Common types of gene changes are mutations (misspellings), deletions (pieces missing), or duplications (pieces extra) in the SATB2 gene.

WHAT ARE THE MAIN MANIFESTATIONS OF SAS?

CORE FEATURES OF SATB2-ASSOCIATED SYNDROME (SAS) CAN BE REMEMBER BY THE FOLLOWING ACRONYM USING THE NAME OF THE SATB2 GENE.

  • S: Severe speech anomaliesLanguage development is the main area of development affected and often with very limited or absent speech.
  • A: Abnormalities of the palate.45% of individuals have a defect (cleft) in the roof of the mouth (palate).
  • T: Teeth anomalies.Virtually all individuals have abnormalities of either the baby or adult teeth. Some of these abnormalities need X-rays to be seen.
  • B: Behavioral issues with or without Bone or Brain MRI anomalies.Different behavioral issues can be seen starting in childhood. A higher risk for weaker bones and seizures is also seen.
  • 2: Age of onset before 2 years of ageThe average age at diagnosis of SAS is 6.8 years old.
Other complications of SAS

Low muscle tone, feeding difficulties, growth retardation, excessive drooling, and eye anomalies.

HOW RARE IS SAS?

We do not know for certain how common or rare SAS may be. However, two recent studies estimated the frequency of SAS in large cohorts of individuals with undiagnosed intellectual disability/developmental delay at 0.24%-0.3%. As of May 2019, over 200 individuals with SAS have been described in the literature.