Medical Specialties

Treatment Options for 22q11.2 Deletion Syndrome in Children


How is 22q11.2 deletion syndrome treated?

There is no cure for 22q11.2 deletion syndrome, but many of its related health problems can be treated. Parents can help their child by seeking early, competent care.  

Because the manifestations of 22q deletion syndrome are varied, our treatment approach addresses all medical issues that may develop. Our team will then integrate these evaluations during the post-clinic conference, in order to formulate the best and appropriate medical treatment plan for each patient. Through early intervention and individualized treatment we will provide comprehensive care, thereby helping your child achieve his/her maximum potential.

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 disease
  • The type of disease
  • Your child's tolerance for specific medications, procedures, or therapies
  • Expectations for the course of the disease
  • 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 lip and/or palate defects. 
  • Speech and gastrointestinal specialists will evaluate feeding difficulties. Some children with the syndrome have severe feeding difficulties and need tube feedings in order to get adequate nutrition. Feeding difficulties are not usually related to heart or palate problems, but rather to intestinal problems caused by the syndrome. 
  • Immunology evaluations should be performed in all children with this deletion. Patients with T-cell dysfunction are at risk for recurrent infections. Those with severe T-cell disorders should avoid live viral vaccines. All blood products for transfusions (if needed) should be irradiated unless cleared by an immunology doctor. 

Other common problems that may require treatment include: 

  • Low calcium. This is common in children with the syndrome, especially right after birth. But it can also recur during stressful periods, such as during puberty or following surgery. A child may need to take calcium supplements as well as vitamin D to help absorb the calcium. A referral to an endocrinologist (doctor who specializes in treating conditions affecting the endocrine system) may be recommended.
  • Developmental difficulties. Young children with 22q11.2 deletion syndrome may be slow to achieve developmental milestones, such as sitting, walking, and talking. The International 22q11.2 Deletion Syndrome Foundation recommends that parents consider physical therapy (PT), occupational therapy (OT), and speech therapy for their affected children. PT strengthens large muscles and helps children meet developmental milestones. OT focuses on small muscles used for skills, such as tying shoes and buttoning clothes. It can also help with feeding problems. Speech therapy can help address language delays that may become apparent after a child turns one year old. 

A child's doctor or parents may request an evaluation to determine what services are available to assist in the management of a child with 22q11.2 deletion syndrome. 

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Phone: (602) 933-2252

Fax: (602) 933-2415


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