22q Clinic

Specific treatment for 22q11.2 deletion syndrome will be determined by your child's doctor based on the following:

  • Your child's age, overall health and medical history.
  • The extent of the condition.
  • The type of condition.
  • Your child's tolerance for specific medications, procedures or therapies.
  • Expectations for the course of the condition.
  • Your opinion or preference.

Treatment will also depend on the particular features in any given child and may include the following:

  • A cardiologist will evaluate heart defects and may correct them with an interventional procedure or surgery. 
  • A plastic surgeon and a speech pathologist will evaluate cleft palate. 
  • Speech pathologist will evaluate feeding difficulties.
  • Immunology evaluations should be performed in all children with this deletion. Patients with T-cell dysfunction are at risk for recurrent infections.

Other common problems that may require treatment include:

  • Low calcium is common in children with the syndrome, especially right after birth. It can reoccur during stressful periods, such as during puberty or following surgery. A referral to an endocrinologist may be recommended.
  • Developmental difficulties are common in young children with 22q who may be slow to achieve milestones, such as sitting, walking and talking. The International 22q11.2 Deletion Syndrome Foundation recommends parents consider physical therapy (PT), occupational therapy (OT), and speech therapy for their affected children.

What to Expect at Your Child's Appointment

Your child's appointment at the 22q Clinic is a full day visit to Phoenix Children's.

Your child’s first set of evaluations will include a cardiology evaluation with an EKG and echocardiogram, a genetics evaluation, and other assessments. 

During lunch, you’ll have the opportunity to meet other families attending the 22q Clinic, as well as members of the Phoenix 22q Family Support Group.

The team will then collaborate on the best treatment plan for your child and follow up with its best recommendations for you. Most children are evaluated by our team every one or two years, as needed.