17q21.31 Deletion Syndrome

1. Causes of the disease

17q21.31 deletion syndrome is a rare disease caused by a deletion of the long arm of chromosome 17 (17q21.31 region). This region contains genes related to the brain and development, and the deletion causes a variety of symptoms.

2. Symptoms

• Developmental delay and intellectual disability : There may be noticeable delays in language and motor skills, and mild to moderate intellectual disability.
• Particular facial features : They often have distinctive facial features, such as a long face, a wide forehead, and low-set ears.
• Muscle weakness : Muscles may be weak and have low muscle tone.
• Behavioral problems : Autism-related behaviors and hyperactivity may be present.
• Epilepsy : Epileptic seizures have been reported in some patients.

3. Treatment

• Developmental Support : We provide support through speech, physical and occupational therapy.
• Behavioral Therapy : Psychological and behavioral therapy may be used to treat behavioral problems.
• Epilepsy Management : Antiepileptic drugs are used to manage seizures.

4. Prognosis

Depending on the severity and management of symptoms, proper support and medical management can hopefully improve quality of life.

5. The burden on parents

Long-term medical care and therapy are necessary, which can place a financial and psychological burden on families. It is important to establish a support system and work with local and specialized medical institutions to receive appropriate support.