17p13.3 Telomeric Duplication Syndrome

1. Causes of the disease

17p13.3 telomeric duplication syndrome is a rare disorder caused by a duplication of genes near the telomere of the short arm of chromosome 17 (17p13.3 region). This duplication can cause overexpression of genes related to development and neurological function, resulting in a variety of symptoms.

2. Symptoms

• Developmental delays : Delays in the development of language and motor skills are common.
• Intellectual disability : Mild to moderate intellectual disability may occur.
• Behavioral abnormalities : Features of autism spectrum disorder and attention deficit hyperactivity disorder (ADHD) may be seen.
• Physical characteristics : Some patients may have unusual facial or skeletal features.

3. Treatment

• Developmental support : We provide speech therapy, physical therapy, and occupational therapy to support development.
• Behavioral Therapy : Psychological and behavioral therapy is used to treat behavioral problems.
• Medical management : This may include seizure management, if needed.

4. Prognosis

Depending on the severity of the condition and how it is managed, early intervention and appropriate support can improve quality of life.

5. The burden on parents

Since long-term treatment and medical support are required, the economic and psychological burden on families is large. It is important to improve support systems by cooperating with support groups and medical institutions.