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

1. Causes of the disease

15q13.3 deletion syndrome is caused by the deletion of a specific region (BP4 to BP5) on chromosome 15. This deletion can result in the loss of genes that affect neurodevelopment, behavior, and intellectual development, resulting in a variety of symptoms.

2. Symptoms

• Developmental delays : Delays in the development of language and motor skills are commonly reported.
• Intellectual disability : Mild to severe intellectual disability may be present.
• Epilepsy : Epileptic seizures may occur in some patients.
• Behavioral problems : Behavioral problems such as autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and anxiety have been reported.
• Distinctive facial features : Distinctive facial features may be present.

3. Treatment

• Epilepsy Management : Appropriate anti-epileptic drugs may be prescribed for epileptic seizures.
• Developmental Support and Therapy : Support development through speech, occupational and physical therapy.
• Behavioral support : Psychological and behavioral therapy for behavioral disorders may be provided.

4. Prognosis

Prognosis varies depending on the severity of each individual patient’s symptoms, but with proper support and medical management, quality of life can be improved.

5. The burden on parents

Long-term support and epilepsy management is often required, which can place a heavy financial and emotional burden on patients. Collaboration with specialists and support groups is important.