10p11.21-p12.31 Microdeletion Syndrome

1. Causes of the disease

10p11.21-p12.31 microdeletion syndrome is a rare genetic disorder caused by the deletion of a specific region on the short arm of chromosome 10. This deletion results in the loss of genes that affect neurodevelopment and bodily functions, resulting in a variety of symptoms, often caused by de novo mutations.

2. Symptoms

• Developmental delays : Development of language and motor skills is often delayed.
• Intellectual disability : There may be mild to moderate intellectual disability.
• Characteristic facial features : Some patients may have characteristic facial features.
• Behavioral problems : Hyperactivity, attention deficits, and autism spectrum related behaviors have been reported.
• Internal organ abnormalities : Heart and kidney abnormalities may be present.

3. Treatment

• Developmental Support and Therapy : We aim to improve skills through physical, speech and occupational therapy.
• Behavioral Therapy : Psychological counseling and behavioral therapy can help with behavioral problems.
• Medical Management : Appropriate medical management is provided for visceral abnormalities.

4. Prognosis

Early support and medical management can hopefully improve patients’ quality of life, but prognosis varies from person to person.

5. The burden on parents

Since long-term treatment and medical management are required, this can place a financial and mental burden on parents. It is important to establish a support system by utilizing support groups and medical institutions.