15q14 Microdeletion Syndrome

1. Causes of the disease

15q14 microdeletion syndrome is a rare genetic disorder caused by the deletion of part of the long arm of chromosome 15 (q14 region). This deletion affects several important genes related to neurodevelopment and physical growth, which can result in a variety of symptoms. Most cases arise as de novo mutations, but some cases can be inherited genetically.

2. Symptoms

• Developmental delays : Delays in the development of language and motor skills are common.
• Intellectual disability : Mild to moderate intellectual disability is often present.
• Behavioral problems : Behavioral problems such as hyperactivity and attention-deficit hyperactivity disorder (ADHD) may be present.
• Facial features : Some patients may have distinctive facial features (such as a broad forehead, low nasal bridge, and wide eyes).
• Abnormalities in internal organs : In some cases, abnormalities in internal organs such as the heart and kidneys may be present.

3. Treatment

• Developmental Support and Therapy : Supporting patients’ development through physical, speech and occupational therapy.
• Behavioral Therapy : Psychotherapy and counseling may be used to treat behavioral problems.
• Visceral Management : Specialized treatment for visceral abnormalities is provided, if required.

4. Prognosis

With appropriate support and medical management, it is expected that the quality of life will improve, but the prognosis will vary depending on the severity of the symptoms and whether or not there are any complications. Early therapeutic support is important.

5. The burden on parents

Since long-term medical care and therapy are often required, which can be both financially and mentally burdensome, it is important to establish a support system in cooperation with local support services and medical institutions.