15q25.2 Deletion (Proximal) Syndrome

1. Causes of the disease

15q25.2 Deletion (Proximal) Syndrome is caused by the deletion of a specific gene on the long arm of chromosome 15 (q25.2 region). This deletion can affect development, neurological function, and physical growth and can result in a variety of symptoms. This deletion often occurs as a new mutation.

2. Symptoms

• Developmental delays : Delays in the development of language and motor skills are common.
• Intellectual disability : There may be mild to moderate intellectual disability.
• Behavioral problems : Attention deficit and hyperactivity, and in some cases, autism spectrum disorder, may be present.
• Physical characteristics : Some patients may have distinctive facial and physical features.
• Epilepsy : Epileptic seizures may occur and require appropriate management.

3. Treatment

• Developmental support and therapeutic education : Developmental support is provided using physical therapy, occupational therapy, and speech therapy.
• Behavioral Therapy : Psychotherapy and counseling for behavioral issues may be offered.
• Epilepsy Management : Appropriate anti-epileptic drugs will be prescribed for epileptic seizures.

4. Prognosis

Prognosis varies depending on the severity of each individual’s symptoms and any complications, but with proper support and treatment it is possible to improve quality of life.

5. The burden on parents

Since long-term medical and behavioral support is required, which often places a financial and emotional burden on patients, it is important to establish a support system for families and to work with medical institutions and support groups.