11q23 Deletion Syndrome

1. Causes of the disease

11q23 deletion syndrome is a genetic disorder caused by the deletion of the long arm of chromosome 11 (q23 region). This deletion affects genes involved in nervous system and physical development, and can result in a variety of symptoms. It usually occurs as a new mutation.

2. Symptoms

• Developmental delays and intellectual disability : Language and motor development is often delayed, and intellectual disability may be present.
• Behavioral abnormalities : Autism spectrum disorder and attention deficit hyperactivity disorder (ADHD) may be present.
• Abnormalities of internal organs : Abnormalities of the internal organs, such as the heart and kidneys, may be seen.
• Unique facial features : Some patients may have unique facial features.

3. 治療

• Developmental and therapeutic interventions : Physical, speech and occupational therapy are provided to help patients improve their skills.
• Behavioral Therapy : Psychological counseling and behavioral therapy are provided to help with behavioral issues.
• Visceral management : Appropriate medical management is provided for visceral abnormalities.

4. Prognosis

Early and appropriate medical support and education can be expected to improve the quality of life. Prognosis varies depending on the presence or absence of complications and the severity of symptoms.

5. The burden on parents

Because therapeutic education and medical management can sometimes involve a large financial and time burden, it is important to take advantage of local support services to receive appropriate support.