15q13.3 Deletion Syndrome (BP4 to BP5) (Gain)

1. Causes of the disease

15q13.3 duplication syndrome is a genetic disorder caused by a duplication of the region from BP4 to BP5 on chromosome 15. This duplication affects certain genes that influence neurodevelopment and behavior, which can result in a variety of symptoms.

2. Symptoms

• Developmental delays : Language and motor development are common.
• Behavioral abnormalities : Hyperactivity and behaviors related to autism spectrum disorder may be observed.
• Intellectual disability : Mild to moderate intellectual disability may be reported, but severity varies from person to person.
• Distinctive facial features : Some patients may have specific facial features.

3. Treatment

• Developmental Support : Developmental support is provided through the use of physical therapy, occupational therapy and speech therapy.
• Behavioral Support : Psychotherapy and counseling may be provided for behavioral issues.
• Medical Management : Specialist medical assistance will be obtained as needed.

4. Prognosis

Receiving appropriate support can be expected to alleviate symptoms and improve quality of life, but prognosis varies depending on the severity of symptoms and complications.

5. The burden on parents

The need for long-term medical management and rehabilitation can place a heavy financial and mental burden on children, so it is important to use support services to receive appropriate support.