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Summary of the Article
5p13 duplication syndrome is a genetic disorder caused by a duplication in the 13th region of the short arm of chromosome 5. The main symptoms include developmental delay, mild to moderate intellectual disability, and behavioral issues associated with autism spectrum disorder and attention deficit hyperactivity disorder (ADHD). Some patients may also exhibit physical characteristics. While there is no fundamental cure, individualized support such as speech therapy, physical therapy, and behavioral therapy is crucial. Receiving appropriate support early on can improve the quality of life. However, families often face economic and emotional burdens, so it is recommended to utilize local welfare services and specialized support systems.
1. Cause
5p13 duplication syndrome is a genetic disorder caused by duplication of the short arm region 13 of chromosome 5. This duplication affects development and the nervous system.
2. Symptoms
- Developmental delay: Delays may occur in language, motor, and social skills.
- Intellectual disability: Mild to moderate intellectual disability may be present.
- Behavioral problems: Behaviors associated with autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD) may be observed.
- Physical features: Some patients may have facial or body abnormalities.
3. Treatment
There is no fundamental cure. Supportive and individualized interventions are essential. Speech therapy and physical therapy are used to promote development, while behavioral therapy and psychological support are also important.。
4. Prognosis
The outcome varies depending on the severity of symptoms and the type of support provided. Early and appropriate interventions can improve quality of life.
5. Burden on Parents
The financial burden of medical care and therapy, as well as the strain of frequent hospital visits, can be significant. Parents also face considerable emotional stress. It is important to receive appropriate support and make use of local welfare services.
