1. Causes of the disease
19q13.11 microdeletion syndrome is caused by a small deletion in the long arm of chromosome 19 (19q13.11), which reduces the function of certain genes and can affect development and the nervous system.
2. Symptoms
- Developmental delays : Motor and language development may be delayed.
- Intellectual disability : Mild to moderate intellectual disability may occur.
- Behavioral abnormalities : Autism spectrum related behaviors and hyperactivity may be seen.
- Physical characteristics : Some people may have certain facial and physical characteristics.
- Cardiac abnormalities : Congenital heart disease may be present.
3. Treatment
- Developmental Support : Support development through physical, occupational and speech therapy.
- Behavioral Therapy : Psychological and behavioral therapy can be used to treat behavioral problems.
- Visceral Management : Medical assistance is provided for cardiac and other visceral abnormalities.
4. Prognosis
Depending on how severe your symptoms are and how they are managed, getting the right help can help improve your quality of life.
5. The burden on parents
Long-term medical support and therapy may be required, which can place a great burden on families. It is important to receive appropriate support through cooperation with support groups and medical professionals.
医師監修
監修日:2024年11月15日
岡 博史
(医師・医学博士／ヒロクリニック統括院長)
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。
