1. Causes of the disease
Xp11.23 microdeletion syndrome is caused by a partial deletion of genetic information in the p11.23 region of the X chromosome. This deletion causes reduced genetic function with various effects on development, behavior, and physical characteristics. It usually results from a de novo mutation, but can also be inherited.
2. Symptoms
- Developmental delays : Development of language and motor skills may be delayed.
- Intellectual disability : Mild to moderate intellectual disability may occur.
- Behavioral problems : Autism-related behaviors and learning disabilities may be present.
- Peculiar facial features : Some patients may have distinctive facial and physical characteristics.
- Abnormalities in internal organs : It may affect the kidneys, heart, etc.
3. Treatment
- Developmental Support : Supporting patient development through physical, occupational and speech therapy.
- Behavioral Management : Psychological and behavioral therapy is provided to address behavioral issues.
- Visceral management : Medical support for visceral abnormalities will be provided as needed.
4. Prognosis
Early and appropriate support can improve the quality of life. Individual prognosis may vary depending on the severity of symptoms and whether or not appropriate support is provided.
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 cooperate with support groups and medical institutions and receive appropriate support.
日本皮膚科学会 皮膚科専門医／日本医師会 産業医／東京衛生検査所 指導監督医
この記事は、 ヒロクリニックNIPTの編集・監修体制 にもとづき、資格を持つ医師が内容を確認しています。
