19p13 Duplication Syndrome

1. Causes of the disease

19p13 duplication syndrome is a rare condition caused by a genetic duplication of the short arm of chromosome 19 (the 19p13 region). This genetic abnormality can affect development, behavior, and physical characteristics.

2. Symptoms

• Developmental delays : There may be delays in language and motor skills.
• Intellectual disability : Mild to moderate intellectual disability may be present.
• Atypical facial features : Some patients may have atypical facial features.
• Behavioral abnormalities : Autism-related behaviors, attention deficits, and hyperactivity may be present.
• Internal Organ Abnormalities : Cardiac and renal abnormalities may also be reported.

3. Treatment

• Developmental Support : Support development through physical, occupational and speech therapy.
• Behavioral Therapy : Psychological and behavioral therapy may be used to treat behavioral problems.
• Visceral Management : Medical support for visceral abnormalities will be provided as needed.

4. Prognosis

Depending on the severity of symptoms and the appropriate support, early intervention can improve quality of life.

5. The burden on parents

Long-term medical care and support are required, which can place a large financial and psychological burden on families. It is important to reduce the burden on families by coordinating with medical teams and support organizations.