Medical Care

It is important that your child's medical team is led by a doctor who is familiar with DiGeorge Syndrome, VCFS and the 22q11.2 deletion as many of the treatment choices are syndrome-specific. Once a child has been diagnosed with a 22q11.2 deletion then it is advisable to have a comprehensive review carried out in order to eliminate other potential problems. Research is constantly being carried out and there may be other areas to consider in addition to those listed below which are the recommendations of the Children's Hospital of Philadelphia.

If the child does not have a known cardiac defect then an evaluation by a cardiologist is important. The chances of finding a previously undiagnosed defect are very low, however a chest x-ray, an electrocardiogram and an echocardiogram may be carried out.

Many children with a 22q11.2 deletion have developmental delays and benefit from early years intervention. It is important therefore that regular monitoring is carried out in order to identify any problems and provide appropriate support. There are other psychological problems that may occur in a small number of patients and further information about these is available and research in this area is on-going.

All children should be seen by a plastic surgeon or ENT specialist who specialises cleft palates and VPI (velopharyngeal insufficiency), preferably at one of the recognised centres of excellence where the surgeon if familiar with the 22q11.2 deletion. Input from a speech therapist is also essential in order to assess speech and language and (in a very young child) feeding. Monitoring of the face, jaw and teeth by a growth specialist and a dentist may also be useful.

Some new-born babies will have problems with low calcium levels and require supplements. This is often dealt with by a paediatrician or a cardiologist. If this problem continues then a hormone specialist may be required. Also some children with have short stature and growth problems which it may be possible to overcome with the assistance of hormone treatment.
Hearing loss, tonsils and throat problems - ENT and Audiology - this is often dealt with by the cleft palate team. Some children will have repeated ear infections (glue ear is not uncommon) or suffer from problems with noisy breathing and advice from an ear, nose and throat doctor would be beneficial. Also some children suffer with hearing loss and it is helpful if a hearing test or audiogram is carried out as other anomalies can cause hearing loss.

These are often identified in the new-born period and the assistance of a paediatrician who specialises in this area is very useful as these problems can continue for some time and impact upon other areas of speech and development.

The geneticist is likely to have an overview of the diagnosis and will be able to advise on issues such as the chances of recurrence in future pregnancies, diagnosis during pregnancy and whether the condition is hereditary or a "new mutation".

Every patient should have their immune system assessed at least once. Many new- born babies will have problems with infection and care should be taken with vaccines. Many children will out grow this problem by their first birthday but others will continue to have trouble until later childhood and occasionally adulthood.

Some children will have kidney anomalies, including a missing kidney, which can be detected by an ultrasound scan. A renal doctor or urologist should also be referred to where a child has problems with infections of the urinary tract, bedwetting or urinary frequency.

Occasionally children will have symptoms such as a seizure disorder or problems with balance. Advice form a neurology specialist may be helpful in some cases if any brain anomalies are suspected.

Other finding commonly noted include: constipation, leg pains and anomalies of the carotid arteries (blood vessels in the neck which lead to the brain). Less frequently there are problems noted with: bony abnormalities, such as extra fingers, extra ribs, a missing bone in the forearm, problems of the vertebrae which can lead to scoliosis, spina bifida, juvenile rheumatoid arthritis, eye problems, premature fusion of the soft spots or fontanel (craniosynotosis), and emotional or psychological problems. Specialist advice should be sought in any of these areas if a problem is suspected.