Can individuals with DiGeorge syndrome (DGS) lead a normal life?

Living with DiGeorge Syndrome: Prognosis and Quality of Life

Most individuals with DiGeorge syndrome (DGS) can lead relatively normal lives with appropriate medical management, though quality of life depends significantly on the severity of their condition, particularly whether they have partial or complete DGS.

Understanding DiGeorge Syndrome Severity

DiGeorge syndrome presents with variable severity, which directly impacts prognosis and quality of life:

Partial vs. Complete DGS

• Partial DiGeorge syndrome (most common):

  • Affects >99% of individuals with 22q11.2 deletion syndrome 1
  • Better prognosis with survival rates approaching normal with proper management 2
  • T-cell numbers and function tend to increase over time 1
  • May have recurrent sinopulmonary infections but typically manageable 1

• Complete DiGeorge syndrome (rare):

  • Occurs in <1% of individuals with 22q11.2 deletion syndrome 1
  • Characterized by congenital athymia (complete absence of thymus)
  • Requires thymus transplantation for survival 1
  • Without treatment, has poor prognosis due to severe immunodeficiency 1

Medical Management and Life Expectancy

Immunological Management

• Periodic immunologic re-evaluation is recommended 1
• Most patients with partial DGS have adequate immune function for normal life
• Complete DGS requires thymus transplantation with approximately 75% survival rate 1
• After successful thymus transplantation, T-cell counts may remain below normal but are sufficient to prevent and clear infections 1

Cardiac Management

• 80% of infants diagnosed with DGS have conotruncal cardiac anomalies 3
• Successful cardiac surgery is possible with appropriate perioperative management 4
• Requires lifelong cardiac monitoring 3

Developmental and Neurological Outcomes

• Median IQ of approximately 76 3
• Increased risk for psychiatric disorders 3
• Speech and language difficulties common, with rare cases of complete absence of speech 5
• Early intervention improves developmental outcomes 3

Quality of Life Considerations

After Successful Treatment

• Individuals with treated DGS can participate in normal activities 1
• Autoimmune manifestations may occur after thymus transplantation, particularly affecting thyroid and blood cells 1
• Ongoing multidisciplinary care is essential for optimal outcomes 3

Common Challenges

• Developmental delays requiring special education support
• Potential for accumulating clinical features over time 3
• Higher rates of postoperative infections following cardiac surgery (23%) 4
• Possible hypocalcemia requiring calcium supplementation 4

Important Monitoring and Follow-up

• Immunological: Assessment for live viral vaccine safety, monitoring for humoral deficiency 3
• Cardiac: Lifelong monitoring for cardiac complications 3
• Developmental: Formal neuropsychological testing at key transition periods 3
• Musculoskeletal: Routine scoliosis screening (present in 50% of patients) 3
• Hematological: Yearly complete blood counts, careful perioperative monitoring 3

Transition to Adult Care

Transition planning is crucial for adolescents with DGS, including:

• Identification of adult practitioners
• Consideration of legal guardianship when appropriate
• Creation of portable health care summaries 3

Pitfalls to Avoid

1. Missed diagnosis: Adults born with conotruncal defects before the late 1990s may have undiagnosed DGS 6
2. Inappropriate vaccination: Live vaccines should not be administered without evidence of normal T-cell responses 1
3. Inadequate perioperative management: Patients undergoing cardiac surgery require specific attention to calcium levels and immune function 4
4. Failure to provide comprehensive care: DGS requires coordinated multidisciplinary management 3

Early diagnosis and comprehensive management significantly improve the likelihood of individuals with DiGeorge syndrome living fulfilling lives, though the extent varies based on the severity of their condition and associated complications.