There is no cure for DiGeorge syndrome. Treatments can usually correct critical problems, such as a heart defect or low calcium levels. Care for developmental, mental health or behavioral problems are more challenging, and the outcomes are less predictable.
Treatments and therapy for a person with DiGeorge syndrome may include interventions for the following conditions:
Aug. 09, 2011
- Hypoparathyroidism. Hypoparathyroidism can usually be managed with calcium supplements, vitamin D supplements and a low phosphorus diet. If enough of the parathyroid tissue is intact, it's possible your child's parathyroid glands will eventually regulate calcium and phosphorus levels without a specialized diet.
- Limited thymus gland function. If your child has some thymic function, infections may be frequent, but not necessarily severe. These infections — usually frequent 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 will improve as they grow older.
- Severe thymus dysfunction. If the impairment of the thymus is severe or there's no thymus, your child is vulnerable to 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 can usually be surgically repaired.
- Heart defects. Most heart defects associated with DiGeorge syndrome require surgery to repair the heart and correct blood circulation.
- Overall development. Your child will likely benefit from a range of therapies, including speech therapy to improve verbal skills and articulation, occupational therapy to learn everyday skills and developmental therapy to learn age-appropriate behaviors, social skills and interpersonal skills. In the United States, early intervention programs providing these types of therapy are usually available through a state's health department.
- Mental health care. Psychotherapy and psychiatric medications may be recommended if your child is later diagnosed with attention-deficit/hyperactivity disorder (ADHD), depression, schizophrenia, or other mental health or behavioral disorders.
- Routes JM. Pulmonary complications of primary immunodeficiencies. In: Mason RJ, et al. Murray and Nadel's Textbook of Respiratory Medicine. 5th ed. Philadelphia, Pa.: Saunders Elsevier; 2010. http://www.mdconsult.com/das/book/body/192068760-2/0/1288/0.html. Accessed June 27, 2011.
- DiGeorge Syndrome. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/sec13/ch164/ch164h.html. Accessed June 27, 2011.
- Seroogy C. DiGeorge syndrome: Pathogenesis, epidemiology, and clinical manifestations. http://www.uptodate.com/home/index.html. Accessed June 27, 2011.
- Seroogy C. DiGeorge syndrome: Evaluation, diagnosis, and management. http://www.uptodate.com/home/index.html. Accessed June 27, 2011.
- Sullivan KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial syndrome. Immunology and Allergy Clinics of North America. 2008;28:353.
- Buckley RH. Primary defects of cellular immunity. In: Kliegman RM. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed June 27, 2011.
- Chromosome 22. Genetics Home Reference. http://ghr.nlm.nih.gov/chromosome=22. Accessed June 27, 2011.
- Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Developmental Disabilities Research Reviews. 2008;14:3.
- Boyce TG (expert opinion). Mayo Clinic, Rochester, Minn. June 29, 2011.
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