Understanding 22q11.2 Deletion Syndrome: One of the Most Common Genetic Disorders

Dec 31

Tuesday, December 31, 2024. One of the advantages to working in Public Health is that you have to learn new things. This is for my new client, James.

22q11.2 Deletion Syndrome, also known as DiGeorge Syndrome or Velocardiofacial Syndrome, is a genetic condition that touches every aspect of life for those affected and their families.

Though it’s one of the most common chromosomal deletion syndromes, affecting about 1 in 4,000 live births, its complexities are often misunderstood or under-discussed.

In this post, we will explore the symptoms, causes, treatments, and emotional realities of living with this condition.

What is 22q11.2 Deletion Syndrome?

22q11.2 Deletion Syndrome is caused by a missing piece of chromosome 22 at the q11.2 region.

This small genetic change has widespread effects, influencing the development of many systems in the body. While its presentation varies widely, most folks experience a combination of physical, developmental, and emotional challenges.

Common Symptoms and Challenges

Physical Symptoms

Heart Defects: Many children with 22q11.2 Deletion Syndrome are born with congenital heart defects, such as Tetralogy of Fallot or interrupted aortic arch.
Facial Features: Subtle differences like a small jaw, low-set ears, or cleft palate may be present.
Weakened Immune System: Issues with the thymus gland can lead to increased susceptibility to infections.
Short Stature: Growth delays are common but vary in severity.

Developmental Delays

Many children experience delays in speech and motor skills, requiring early intervention and ongoing therapy.
Learning Disabilities: Challenges often include difficulties with math and abstract reasoning, though intelligence levels vary widely.

Behavioral and Emotional Symptoms

Higher rates of anxiety, ADHD, and autism spectrum disorders.
Adolescents and adults may face an increased risk of developing schizophrenia, highlighting the need for lifelong mental health support.

Endocrine and Other Issues

Hypocalcemia (low calcium levels) can lead to seizures.
Kidney abnormalities and hormonal imbalances are also reported.

The Emotional Realities of 22q11.2 Deletion Syndrome

Families navigating 22q11.2 Deletion Syndrome often face overwhelming emotions, including fear, uncertainty, and grief. Learning about the condition and seeking support can provide a sense of empowerment and hope.

A Parent’s Perspective

“The diagnosis was daunting,” shared one parent. “But over time, we learned to celebrate our child’s milestones, however small, and found strength in connecting with others on the same journey.”

Building Resilience

With a strong support network, access to resources, and a focus on early interventions, families often find ways to thrive despite the challenges.

Diagnosis and Early Intervention

How is 22q11.2 Deletion Syndrome Diagnosed?

Genetic testing is the key to diagnosing 22q11.2 Deletion Syndrome. Tests such as fluorescence in situ hybridization (FISH) or microarray analysis identify the missing segment of chromosome 22.

Why Early Intervention Matters

Early diagnosis allows families to access critical therapies and interventions, such as:

Speech Therapy: To address communication challenges.
Physical Therapy: To improve motor skills and coordination.
Special Education Services: Tailored learning strategies to support academic progress.

Treatment and Management

While there is no cure, a multidisciplinary approach can significantly improve quality of life. Here are the key areas of focus:

Medical Care

Heart Surgery: For congenital defects, if needed.
Calcium and Vitamin D Supplements: To manage hypocalcemia.
Regular check-ups with specialists, including cardiologists, immunologists, and endocrinologists.

Developmental Support

Ongoing therapies (speech, occupational, and physical) help children reach developmental milestones.
Educational accommodations ensure children with learning disabilities can thrive in school.

Emotional and Mental Health

Access to counseling and behavioral therapy is crucial for managing anxiety, ADHD, and other challenges.
Family therapy can support caregivers and siblings.

Building a Community

Connecting with other families affected by 22q11.2 Deletion Syndrome can provide emotional support, practical advice, and friendship. Organizations like the 22q Family Foundation and 22q11.2 Society offer valuable resources and forums.

Research and Future Directions

Advances in genetic research continue to improve our understanding of 22q11.2 Deletion Syndrome. Current studies focus on:

Developing better treatments for immune and heart issues.
Exploring the genetic basis of the syndrome’s variability.
Understanding the increased risk of psychiatric disorders.

Final Thoughts

Living with 22q11.2 Deletion Syndrome requires resilience, adaptability, and love.

Though the journey can be challenging, it is also filled with moments of joy, growth, and connection.

I hope my modest effort in this post will raise some awareness so we can create a world where individuals with 22q11.2 Deletion Syndrome and their families feel supported and valued.

Be Well, Stay Kind, and Godspeed.

REFERENCES:

American Academy of Pediatrics. (2011). Health supervision for children with 22q11.2 deletion syndrome. Pediatrics, 127(3), e815-e822. https://doi.org/10.1542/peds.2010-3670

McDonald-McGinn, D. M., & Sullivan, K. E. (2011). Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine, 90(1), 1-18. https://doi.org/10.1097/MD.0b013e3182060469

Shprintzen, R. J. (2008). Velo-cardio-facial syndrome: 30 years of study. Developmental Disabilities Research Reviews, 14(1), 3-10. https://doi.org/10.1002/ddrr.2

22q Family Foundation. (2024). About 22q11.2 deletion syndrome. Retrieved from https://www.22qfamilyfoundation.org/

Daniel Dashnaw