18p Deletion Syndrome

1. Causes of the disease

18p deletion syndrome is a rare chromosomal abnormality caused by a partial or complete deletion of the short arm of chromosome 18 (18p). This deletion affects genes involved in development, growth, and organ function, resulting in a variety of symptoms.

2. Symptoms

• Developmental delays : Motor and language development are often delayed.
• Abnormal muscle tone : Muscle strength may decrease, limiting the ability to exercise.
• Distinctive facial features : People may have distinctive facial shapes and physical characteristics.
• Intellectual disability : Mild to severe intellectual disability is often present.
• Behavioral problems : Autism spectrum disorder and hyperactivity may be present.
• Internal organ abnormalities : Heart and kidney abnormalities may be seen.

3. Treatment

• Developmental Support : Support development through physical, occupational and speech therapy.
• Behavioral Therapy : Psychological and behavioral therapy may be offered for behavioral issues.
• Visceral Management : Specialized medical assistance is provided for any abnormalities in the internal organs.

4. Prognosis

Depending on the severity of the symptoms and the management method, early intervention and appropriate medical support can improve quality of life.

5. The burden on parents

Since long-term care and support are required, this can be a financial and psychological burden. It is important for families to establish a support system in cooperation with specialized medical institutions and support groups.