Making the Diagnosis
So far, no specific criteria have been outlined to make the diagnosis of SATB2-associated syndrome (SAS). However, the diagnosis of SAS should be considered in anybody that has developmental delay with severely compromised or absent speech and that also has palatal and dental abnormalities (See Main Characteristics).
Regardless of the medical history and findings on physical exam, any of the potential mechanisms that result in the alteration of the SATB2 gene needs to be documented through genetic testing to make the diagnosis of SAS (See What Causes the Syndrome). The testing that could show changes in the SATB2 gene include: