Treatment

Although there is no cure for DiGeorge syndrome (22q11.2 deletion syndrome), treatments can usually correct critical problems, such as a heart defect or cleft palate. Other health issues and developmental, mental health or behavioral problems can be addressed or monitored as needed.

Treatments and therapy for 22q11.2 deletion syndrome may include interventions for:

  • Hypoparathyroidism. Hypoparathyroidism can usually be managed with calcium supplements and vitamin D supplements.
  • Heart defects. Most heart defects associated with 22q11.2 deletion syndrome require surgery soon after birth to repair the heart and improve the supply of oxygen-rich blood.
  • Limited thymus gland function. If your child has some thymic function, infections may be frequent, but not necessarily severe. These infections — usually colds and ear infections — are generally treated as they would be in any child. Most children with limited thymic function follow the normal schedule of vaccines. For most children with moderate thymus impairment, immune system function improves with age.
  • Severe thymus dysfunction. If the impairment of the thymus is severe or there's no thymus, your child is at risk of a number of severe infections. Treatment requires a transplant of thymus tissue, specialized cells from bone marrow or specialized disease-fighting blood cells.
  • Cleft palate. A cleft palate or other abnormalities of the palate and lip can usually be surgically repaired.
  • Overall development. Your child will likely benefit from a range of therapies, including speech therapy, occupational therapy and developmental therapy. In the United States, early intervention programs providing these types of therapy are usually available through a state or county health department.
  • Mental health care. Treatment may be recommended if your child is later diagnosed with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, depression, or other mental health or behavioral disorders.
  • Management of other conditions. These may include addressing feeding and growth issues, hearing or vision problems, and other medical conditions.

Health care team

Because 22q11.2 deletion syndrome can result in so many problems, several specialists will likely be involved in diagnosing specific conditions, recommending treatments and providing care. This team will evolve as your child's needs change. Specialists on your care team may include these professionals and others, as needed:

  • Children's health specialist (pediatrician)
  • Expert in inherited disorders (geneticist)
  • Heart specialist (cardiologist)
  • Immune system specialist (immunologist)
  • Ear, nose and throat (ENT) specialist
  • Infectious disease specialist
  • Hormone disorder specialist (endocrinologist)
  • Surgeon who specializes in correcting such conditions as a cleft palate (oral and maxillofacial surgeon)
  • Surgeon who specializes in correcting heart defects (cardiovascular surgeon)
  • Occupational therapist to help develop practical, everyday skills
  • Speech therapist to help improve verbal skills and articulation
  • Developmental therapist to help develop age-appropriate behaviors, social skills and interpersonal skills
  • Mental health professional, such as a pediatric psychiatrist or psychologist
July 18, 2017
References
  1. National Library of Medicine. 22q11.2 deletion syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome#genes. Accessed May 25, 2017.
  2. 22q11.2 deletion disorders (DiGeorge syndrome and velocardiofacial syndrome). American Heart Association. http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/22q112-Deletion-Disorders-DiGeorge-Syndrome-and-Velocardiofacial-Syndrome_UCM_309017_Article.jsp#.WSc5wWd1rRE. Accessed May 25, 2017.
  3. DiGeorge syndrome (DGS). American Academy of Allergy Asthma & Immunology. http://www.aaaai.org/conditions-and-treatments/primary-immunodeficiency-disease/digeorge-syndrome. Accessed May 25, 2017.
  4. DiGeorge syndrome. Merck Manual Professional Version. https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/digeorge-syndrome. Accessed May 25, 2017.
  5. Hofstetter AM, et al. Live vaccine use and safety in DiGeorge syndrome. Pediatrics. 2014;133:e946.
  6. Chromosome 22q11.2 deletion syndrome. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/chromosome-22q11-2-deletion-syndrome/. Accessed May 25, 2017.
  7. Seroogy CM. DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis. https://www.uptodate.com/contents/search. Accessed May 25, 2017.
  8. Seroogy CM. DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis. https://www.uptodate.com/contents/search. Accessed May 25, 2017.
  9. Seroogy CM. DiGeorge (22q11.2 deletion) syndrome: Management and prognosis. https://www.uptodate.com/contents/search. Accessed May 25, 2017.
  10. AskMayoExpert. 22q11.2 deletion syndrome. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2016. Accessed May 10, 2017.
  11. Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. July 6, 2017.