22q11.2 deletion syndrome natural history, complications and prognosis

22q11.2 deletion syndrome Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayushi Jain, M.B.B.S[2]

Overview

It is important to note that the broad spectrum of disease severity makes the evaluation of DGS particularly challenging. Cases involving significant cardiac, thymic, and craniofacial deficits are more easily recognizable than those lacking severe features.

Most patients with DGS may progress to develop severe recurrent infections, autoimmune diseases, and hematologic malignancies.

Prognosis is very poor, if left untreated, most patients die by 12 months of age.

Natural History, Complications, and Prognosis

Natural History

• The symptoms of DGS usually develop in the first year itself and starts with symptoms such as delays in the achievement of developmental milestones.
• Other symptoms include :
• Behavioral disturbance
• Cyanosis, exercise intolerance, or symptoms
• Recurrent infections secondary to T-cell deficiency
• Speech difficulty
• Difficulty feeding and/or failure to thrive
• Muscle spasms, twitching, tetany, seizure
• Later in life, abnormal behavior in the setting of poor developmental history may be the chief presenting symptom of DGS.

Complications

• Common complications of DGS include:
  • Severe recurrent infections
  • Autoimmune diseases
  • Hematologic malignancies.
• Cardiac and craniofacial anomalies associated with DGS may require surgical repair. As with any surgical procedure, the possibility of complications, including bleeding, infection, and prolonged hospitalization, exists. These risks are particularly dangerous for DGS patients with significant immunocompromise. Consistent follow-up of patients with DGS is necessary to evaluate for these possible complications.

Prognosis

• Without treatment, prognosis is very poor, and most patients die by 12 months of age.Less than 1% of patients with 22q11.2 microdeletion have complete DGS, accounting for the very poor prognosis. n a study of 50 infants who received a thymic transplant for complete DGS, only 36 survived to two years.
• Depending on the type of DGS, as complete or partial and the time of diagnosis, the prognosis may vary. However, the prognosis is generally regarded as poor.
• Partial DGS is associated with the most favorable prognosis, but still not a defined prognosis. Some do not survive infance due to severe cardiac defects and many survive into adulthood.