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Preparing for your appointment
By Mayo Clinic staffHow you learn about your child's condition — if your child has DiGeorge syndrome — depends greatly on the combination of medical problems that are present and their severity. If certain conditions — a severe heart defect, cleft palate or a combination of other factors typical of DiGeorge syndrome — are readily apparent at birth, diagnostic tests will likely begin before your child leaves the hospital.
Your family doctor or pediatrician may suspect the disorder because of a combination of illnesses or disorders that become apparent over time. Other issues may come to the attention of your doctor during regularly scheduled well-baby visits or annual checkups for your child.
Well-baby visits and annual checkups
It's important to take your child to all regularly scheduled well-baby visits and annual appointments. These visits can be important for identifying early signs of developmental delays and enable you to address concerns with your doctor.
Be prepared to answer questions that your child's doctor may ask:
- Does your baby have any problems feeding?
- Does your baby seem listless, weak or sick?
- Is your child reaching certain milestones in development, such as rolling over, pushing up, sitting up, crawling, walking or speaking?
- Do you observe any behaviors that concern you?
Talking to your doctor about DiGeorge syndrome
If your family doctor or pediatrician believes that your child exhibits signs or symptoms of DiGeorge syndrome and suggests diagnostic tests for the disorder, you may want to discuss the following questions:
- What diagnostic tests will be needed?
- When will we know the results of the tests?
- What specialists will you refer us to?
- What medical conditions related to DiGeorge syndrome need to be addressed right now? What is our highest priority?
- How will you help me monitor my child's health and development?
- Can you suggest educational materials and local support services regarding DiGeorge syndrome?
- What services are available for early childhood development?
- 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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