18q Deletion Syndrome

1. Causes of the disease

18q deletion syndrome is a chromosomal abnormality caused by the deletion of part of the long arm of chromosome 18 (18q). This genetic change causes a variety of symptoms that affect physical development and the nervous system. Symptoms vary depending on the degree and location of the 18q deletion, and there are individual differences.

2. Symptoms

• Developmental delays : Delays in the development of motor and language skills are common.
• Intellectual disability : Mild to moderate intellectual disability may occur.
• Muscle weakness : Muscle tone may decrease and muscles may become weak.
• Unusual physical characteristics : There may be abnormalities in the shape of the face or the shape of the hands and feet.
• Endocrine abnormalities : Growth hormone deficiency and thyroid abnormalities may be reported.
• Hearing loss : Some patients may experience hearing loss.

3. Treatment

• Developmental Support : Support development through speech, physical and occupational therapy.
• Endocrine management : Manage endocrine abnormalities with hormone replacement therapy, etc.
• Hearing support : You may be provided with hearing aids or rehabilitation for hearing problems.
• Comprehensive medical management : Depending on the patient’s symptoms, medical support from multiple specialties is required.

4. Prognosis

Although it depends on the severity of the symptoms and whether or not appropriate medical support is available, early diagnosis and appropriate assistance can improve the quality of life.

5. The burden on parents

Because long-term treatment and medical management are required, this can be a major financial and psychological burden for parents, so it is important to strengthen family support systems through cooperation with support groups and medical institutions.