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Article Summary
1p32-p31 deletion syndrome is a genetic disorder caused by a deletion on part of chromosome 1. Common symptoms include intellectual disability, developmental delays, physical abnormalities, epilepsy, and behavioral issues. Treatment focuses on developmental and behavioral support, seizure management, and care for physical complications. Although the condition can place medical, financial, and emotional burdens on families, utilizing regional welfare and public assistance can ease these challenges and help support the child’s growth. Appropriate support and community cooperation are key to improving the quality of life for both the child and the family.
1. Causes
This syndrome results from a genetic deletion in the 1p32 to 1p31 region on the short arm of chromosome 1. Most cases are due to de novo mutations (not inherited), but familial inheritance is possible. The specific genes affected vary by individual, leading to different symptoms.
2. Symptoms
- Intellectual Disability and Developmental Delays: Language and motor development are often delayed, ranging from mild to severe disability.
- Physical Features: Some may show distinctive facial features such as unusual ear shape or wide-set eyes.
- Behavioral and Psychological Issues: Hyperactivity, anxiety, impulsivity, and behaviors resembling ADHD or ASD may occur.
- Congenital Physical Abnormalities: Some may have heart, urogenital, or skeletal malformations.
Epilepsy: Seizures may occur and require medical management.
3. Treatment
- Developmental Support and Early Intervention: Includes speech, physical, and occupational therapies to build social and cognitive skills.
- Behavioral Therapy and Psychological Support: Addresses behavior issues through therapy, with cooperation from family and schools.
- Epilepsy Management: Antiepileptic medications may be needed to control seizures.
Managing Physical Complications: Heart or other organ issues require specialized medical care and possibly surgery.
4. Prognosis
Prognosis depends on symptom severity and management. With proper support, many can achieve improved quality of life and, in some cases, live with social independence.
5. Family Burden and Support
Medical Management: Regular appointments and specialized care can be time-consuming and costly.
Educational and Developmental Support: Requires personalized programs and active family involvement.
Financial Strain: High treatment and care costs; public aid is crucial.
Emotional Burden: Anxiety about the future and daily stress may be mitigated by counseling and support groups.
Community Engagement: Utilizing social and welfare services helps reduce family stress and supports the child’s development.
