22q13 Duplication Syndrome

1. Causes of the disease

22q13 duplication syndrome is a genetic disorder caused by a duplication of the 22q13 region of the long arm of chromosome 22. This duplication leads to the overexpression of genes that affect development and behavior.

2. Symptoms

• Developmental delays : Language and motor development may be delayed.
• Intellectual disability : Mild to moderate intellectual disability may occur.
• Behavioral problems : Autism spectrum disorder and attention deficit hyperactivity disorder may be present.
• Peculiar facial features : Some patients may have distinctive facial features.

3. Treatment

• Developmental Support : Support development through physical, occupational and speech therapy.
• Behavioral Therapy : Psychological and behavioral therapy is provided to address behavioral issues.

4. Prognosis

With proper support, quality of life can be improved, but individual prognosis varies depending on the severity of symptoms.

5. The burden on parents

Since long-term medical care and support are required, this can be a financial and psychological burden. It is important to work with support groups and medical institutions to receive appropriate support.