16p13.11 Deletion Syndrome

1. Causes of the disease

16p13.11 deletion syndrome is a rare genetic disorder caused by the deletion of part of the short arm of chromosome 16 (the p13.11 region). This genetic change can result in the deletion of multiple genes that affect neurodevelopment, behavior, and physical characteristics, resulting in a wide range of symptoms. It often occurs as a de novo mutation, but can also run in families.

2. Symptoms

• Developmental delays : Delays in language and motor skills are common.
• Intellectual disability : There may be mild to moderate intellectual disability.
• Behavioral problems : Behavioral problems such as autism spectrum disorder and attention deficit hyperactivity disorder (ADHD) may be present.
• Epilepsy : Epileptic seizures have been reported in some patients.
• Physical characteristics : Certain facial features and body abnormalities may be present, but there is considerable individual variation.

3. Treatment

• Developmental Support : Physiotherapy, speech therapy, and occupational therapy are used to support development.
• Behavioral therapy : Psychological and behavioral therapy for behavioral problems may be used.
• Epilepsy Management : For epileptic seizures, appropriate anti-epileptic drugs may be prescribed.

4. Prognosis

With appropriate medical support and therapy, symptoms can be expected to improve and quality of life can be enhanced, but prognosis varies depending on the severity of symptoms and complications of each individual patient.

5. The burden on parents

Since long-term treatment and medical management will be required, this can be a financial and psychological burden. It is important to work with local support services and medical institutions to receive appropriate support.