22q11.2 Deletion Syndrome (LCR22 B/C-D)

1. Causes of the disease

22q11.2 deletion syndrome (LCR22 B/CD) is a disorder caused by the deletion of a specific genetic region (LCR22 B/C to D) on the long arm of chromosome 22. This genetic deletion affects multiple genes, resulting in a variety of effects on development and bodily functions. It often occurs as a de novo mutation, but can also be inherited from a parent.

2. Symptoms

• Developmental delays : Development of language and motor skills may be delayed.
• Immune system abnormalities : Your immune system may be weakened, making you more susceptible to infections.
• Heart abnormalities : Congenital heart disease may be present and may require cardiac surgery.
• Behavioral and learning problems : Behaviors that resemble autism spectrum disorder or attention deficit hyperactivity disorder (ADHD) may be observed.
• Certain facial features : Some patients may have a particular facial appearance.

3. Treatment

• Developmental Support : Developmental support is provided using speech therapy, physical therapy, and occupational therapy.
• Immune management : The immune system is managed to prevent infection.
• Cardiac care : Cardiac surgery and specialized medical management are provided if needed.
• Behavioral therapy and psychological support : Psychological and behavioral therapy may be used to address behavioral and learning problems.

4. Prognosis

Depending on the severity of symptoms and the availability of appropriate medical support, early help and medical management can improve quality of life.

5. The burden on parents

The need for long-term medical management and rehabilitation places a psychological and financial burden on families, so it is important to receive appropriate support through family support groups and collaboration with medical institutions.