19q13.11 Microdeletion Syndrome

1. Causes of the disease

19q13.11 microdeletion syndrome is caused by a small deletion in the long arm of chromosome 19 (19q13.11), which reduces the function of certain genes and can affect development and the nervous system.

2. Symptoms

• Developmental delays : Motor and language development may be delayed.
• Intellectual disability : Mild to moderate intellectual disability may occur.
• Behavioral abnormalities : Autism spectrum related behaviors and hyperactivity may be seen.
• Physical characteristics : Some people may have certain facial and physical characteristics.
• Cardiac abnormalities : Congenital heart disease may be present.

3. Treatment

• Developmental Support : Support development through physical, occupational and speech therapy.
• Behavioral Therapy : Psychological and behavioral therapy can be used to treat behavioral problems.
• Visceral Management : Medical assistance is provided for cardiac and other visceral abnormalities.

4. Prognosis

Depending on how severe your symptoms are and how they are managed, getting the right help can help improve your quality of life.

5. The burden on parents

Long-term medical support and therapy may be required, which can place a great burden on families. It is important to receive appropriate support through cooperation with support groups and medical professionals.