From the Guidelines
22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a genetic disorder that requires a multidisciplinary treatment approach, prioritizing regular monitoring and management of its various manifestations, including cardiac, immune, endocrine, and psychiatric issues, as outlined in the most recent guidelines 1.
Overview of 22q11.2 Deletion Syndrome
This condition affects multiple body systems and typically presents with congenital heart defects, immune system problems, palate abnormalities, learning difficulties, and distinctive facial features. The management of 22q11.2 deletion syndrome involves a comprehensive approach, including:
- Cardiac defects often require surgical correction in infancy
- Immune deficiencies may necessitate thymus transplantation in severe cases or prophylactic antibiotics and immunoglobulin replacement therapy for less severe cases
- Hypocalcemia is managed with calcium supplements (typically 500-1000 mg daily) and vitamin D (400-1000 IU daily) 1
- Speech therapy addresses palate abnormalities and feeding difficulties
- Developmental delays require early intervention services, special education support, and sometimes behavioral therapy
Psychiatric and Neuropsychiatric Management
Psychiatric symptoms like anxiety, depression, or psychosis may emerge in adolescence or adulthood and are treated with standard psychiatric medications. It is essential to assess cognitive and adaptive strengths and weaknesses, especially at transition to adulthood, and to provide counseling to caregivers and others about realistic expectations given the individual’s capabilities and hidden disabilities 1.
Regular Monitoring and Genetic Counseling
Regular monitoring by a multidisciplinary team, including cardiology, immunology, endocrinology, and developmental specialists, is crucial. Early diagnosis and comprehensive management significantly improve outcomes, as many complications can be effectively treated when identified promptly. Genetic counseling is also important for affected individuals and their families to understand inheritance patterns and reproductive options 1.
Key Considerations
- The most recent guidelines emphasize the importance of managing treatable associated conditions and providing individualized care based on the patient's specific needs and manifestations 1
- Regular assessments and monitoring are necessary to address the variability in intellect, cognitive functioning, and adaptive abilities in adults with 22q11.2 deletion syndrome 1
- A comprehensive approach to management, including coordination with specialists and attention to preventive health care measures, is essential for optimizing outcomes in individuals with 22q11.2 deletion syndrome.
From the Research
Definition of DiGeorge Disease
DiGeorge disease, also known as 22q11.2 deletion syndrome, is a disorder characterized by thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies 2. It results from a deletion within chromosome 22q11.2 and is part of the clinical spectrum known as CATCH 22 syndrome, which includes cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcaemia 2.
Clinical Features
The clinical features of DiGeorge disease include:
- Cardiac defects
- Abnormal facies
- Thymic hypoplasia
- Cleft palate
- Hypocalcaemia
- Immunodeficiency
- Renal anomalies
- Eye anomalies
- Skeletal defects
- Developmental delay 3, 4, 5
Treatment
Treatment for DiGeorge disease is tailored to each individual's specific medical problems and may include:
- Thymic transplant or fully matched bone marrow transplant for patients with severe immunodeficiency 4
- Management of cardiac anomalies
- Treatment of hypocalcaemia and hypoparathyroidism
- Speech therapy and management of cleft palate
- Monitoring for autoimmune diseases and infections 3, 6
Diagnosis
Diagnosis of DiGeorge disease can be made using fluorescence in situ hybridization (FISH) to detect deletions of chromosome 22q11.2 5. FISH analysis is recommended in patients with combined hypocalcemia and congenital cardiac malformations, with or without other characteristics of the disease.
Immunodeficiency and Autoimmunity
Patients with DiGeorge disease are at increased risk of immunodeficiency and autoimmunity due to impaired thymic development and defects in T-cell and B-cell function 6. Immunodeficiency can range from mild to severe and may be associated with recurrent infections or autoimmune diseases.