22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Diagnosis & Treatment

How is 22q11.2 deletion syndrome diagnosed?

In some cases, children are diagnosed in infancy, particularly if they have a heart problem or a cleft palate. In other cases, diagnosis happens later in childhood.

If your child’s doctor suspects 22q11.2 deletion syndrome (22q11 DS) based on symptoms, they may refer you to a geneticist who may suggest a genetic test to diagnose the condition.

The doctor may also recommend one or more of the following tests to rule out other conditions or to or check for specific problems associated with 22q11 DS:

  • echocardiogram (cardiac ultrasound)
  • kidney ultrasound
  • x-rays
  • blood tests

If your child’s medical history and physical exam suggest of 22q11 DS, but the deletion testing is normal, your doctor may suggest TBX1 gene sequencing. TBX1 is a gene within the 22q11.2 deleted region. There are rare examples of individuals with mutations in this gene who have many of the features of a 22q11.2 deletion.

How is 22q11.2 deletion syndrome treated?

There is no cure for 22q11 DS, but there are various treatment options depending on the specific medical conditions your child may have.

  • Heart defects: Congenital heart defects often require treatment soon after birth. Children are treated first with medications, followed by possible surgical or catheter intervention, depending on the particular problem.
  • Cleft palate: Some children may need surgery to repair the opening in their palate. They may be referred to the Cleft and Craniofacial Center.
  • Feeding difficulties: Children who have severe feeding difficulties may need tube feedings to get proper nutrition. Those who have issues with reflux or less severe feeding issues may benefit from medication or feeding therapy. They may be referred to the Division of Gastroenterology, Hepatology and Nutrition.
  • Low calcium: Children may need to take calcium supplements as well as vitamin D to help absorb the calcium. They may be referred to the Department of Endocrinology
  • Immune deficiency: Some children may need aggressive treatment for infections. In rare cases, they may be treated with prophylactic antibiotics, IVIG therapy, or thymic transplantation. They may be referred to the Immunology Program.
  • Developmental, psychological, and learning difficulties: Early intervention services may be recommended to help children reach developmental milestones. As they grow, children with 22q11 DS may also benefit from special education services, developmental services, physical and occupational therapy, and speech therapy. They may be referred to the Cardiac Neurodevelopmental Program.
  • Speech and language problems: Children with 22q11 DS can have challenges as they begin to understand language and produce speech. Some of these challenges are related to developmental delays, while others are related to structural differences. Periodic comprehensive speech and language assessment throughout childhood is important to identify and treat any developmental or structural differences that affect communication.