Complications
The most common manifestation of palatal disease is velopharyngeal insufficiency, resulting in hypernasal speech and poor intelligibility.[62][63] Speech therapy may help, but some patients require surgical treatment. In general, the response to surgical treatment is not as good for patients with DiGeorge syndrome as for others. Cleft palate and submucous clefts occur in up to 20% of children and are managed surgically.
75% of patients have at least some tooth abnormality, mostly hypoplastic dentition of the mandibular first premolar or enamel opacities.[118] Those with cleft palate may have additional dental issues related to the cleft palate. Tooth agenesis and supernumerary teeth are not associated with DiGeorge syndrome.
Patients are at risk for schizophrenia, bipolar disorder, and depression.[66] The risk for schizophrenia may be as high as 20%.
A study of hearing loss in patients with DiGeorge syndrome demonstrated that high-tone sensorineural or mixed hearing loss was common. Children with the COMT Met allele were less severely affected, suggesting a protective effect for this modifier gene.[122]
Limb abnormalities, scoliosis, and craniocervical/cervical abnormalities are common and may require observation, bracing, and/or surgery.[123] Patients should be referred to an appropriate specialist if concerns are identified on clinical exam.
Incidence of sinopulmonary and viral infections is increased.[69] They occur regardless of detectable immunodeficiency. Bacterial infections should be promptly managed with appropriate antibiotic therapy.
Significant reflux is common and may contribute to feeding difficulties.[117] Reflux may be diagnosed by pH probe. Patients are managed with standard reflux management but may require more significant intervention to control symptoms, including fundoplication.
Allergies are common with 22q11.2 deletions. This may be due to dysregulated T and B cell function as a result of the low thymic output that may force homeostatic proliferation of T cells. These T cells are more likely to be of TH2 phenotype and thus favor the development of allergy.[119]
Up to 70% of patients have posterior embryotoxon and abnormal retinal vessels, although they do not usually impair vision.[121]
Significant T-cell deficiency is uncommon, although most infants have some T-cell lymphopenia.[70] All patients should have T-cell enumeration by flow cytometry to identify any need for immune reconstitution. Sulfamethoxazole/trimethoprim prophylaxis and avoiding live virus vaccines are generally not required unless there is T-cell dysfunction (T-cell counts <600 cells/mm^3) and/or immune reconstitution is planned.[99][100][101][102][103][104][115] Although there are no studies in large numbers of patients, data suggest that those with T-cell counts >600 cells/mm^3 may safely receive live vaccines.
About 10% of patients develop autoimmune disease. Juvenile rheumatoid arthritis is the most common, but blood cytopenias, diabetes, and thyroid disease also occur.[116] These complications are not predictable and are managed in the usual fashion when they occur.
Platelet counts are lower on average than in healthy controls, but this finding does not seem to have clinical significance, and the platelet counts are not in a clinically significant deficit.[120] No special precautions are required to manage thrombocytopenia.
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