Because a person's genetic makeup can't be changed, doctors can't "cure" the chromosome 22q11.2 deletion. But once a child is diagnosed, the doctor will usually recommend that she undergo evaluation in the areas we know this chromosomal difference affects. Once her medical and developmental problems are pinpointed, her doctors can help develop plans that will help manage them and help her live as healthy a life as possible.
If your child has been diagnosed with a chromosome 22q11.2 deletion, he may require evaluations in the following areas:
Even if a child doesn't have a known heart defect, a cardiologist's evaluation is important, although the likelihood of the cardiologist's finding a previously unrecognized problem is low. An evaluation usually includes a chest X-ray, an electrocardiogram and an echocardiogram.
Children with a 22q11.2 deletion may have learning style differences requiring some extra help in school. In addition, young children may have delays in their developmental milestones and might benefit from early intervention, such as physical, occupational and speech therapy. That's why it's important to take your child for developmental testing on a regular basis to determine if he's having any problems and to identify appropriate intervention, when needed.
Your child should see a plastic surgeon who specializes in cleft palate and velopharyngeal incompetence. In addition, she should see a speech and language pathologist who can also assess speech, language and — if she's young — feeding. Some centers have specialized computer methods of objectively measuring speech to decide if intervention is necessary. Some teams also have growth specialists and dentists who monitor face, jaw and tooth growth.
This evaluation may be part of the cleft palate team evaluation. Children with a cleft palate often have trouble with ear infections and can benefit from seeing an ear, nose and throat (ENT) doctor — also called an otolaryngologist. In addition, an ENT can help children who have problems with "noisy" breathing as a result of their disorder.
Since some children with a 22q11.2 deletion may also have a hearing loss, your child may benefit from a hearing test (audiogram), as well.
Some children with a chromosome 22q11.2 have problems with low calcium when they're newborns and may need a calcium supplement. During this time, the cardiologist or pediatrician will handle low calcium problems. If the problem continues, your child may need to see an endocrinologist (hormone doctor).
In addition, some older children have problems with growth (called short stature) and may require growth hormone therapy. An endocrinologist can help.
Children with a 22q11.2 deletion often have feeding difficulties, especially when they're newborns. A pediatrician who specializes in feeding can help. Your child's healthcare provider will only recommend an evaluation if a problem already exists.
The geneticist is the person who's most likely to have an overview of your child's diagnosis. The geneticist stays up-to-date with the latest research about the 22q11.2 deletion. That's why it's important to take your child for a yearly evaluation, so the geneticist can answer your questions about his general care, as well as the chances that the disorder will recur in any other children you may have.
Many newborns with a 22q11.2 deletion have problems with their immune systems, so they may have trouble with infections or certain vaccines. Most children outgrow this problem by their first birthdays, but some of them continue to have trouble into later childhood and adulthood. In addition, some children develop autoimmune diseases related to their immune deficiency, such as juvenile rheumatoid arthritis, ideopathic thrombocytopenia, vitiligo and Graves disease. Your child should be evaluated by an immunologist at least once.
Some children with a 22q11.2 deletion have a seizure disorder (unrelated to low calcium) or balance problems — which require a neurologist's services. Ask your child's healthcare team if an initial evaluation with a neurologist may be helpful.
Some children have kidney problems — even a missing kidney — which a renal (kidney) ultrasound would detect. In addition, some children have urinary tract infections, urinary reflux, bedwetting or urinary frequency. If your child is having these types of problems, he should see a urologist who is a specialist in the chromosome 22q11.2 deletion.
The problems children with a 22q11.2 deletion have may vary widely, but some other problems include:
Other, less common, problems include:
If your child has problems in any of these areas, she'll be referred to the specialists who can care for them.
Reviewed by: Donna M. McDonald-McGinn, MS, CGC
Date: May 2004