5q12 Deletion Syndrome

1. Cause of Disease

The 5q12 deletion syndrome is a genetic disorder caused by a deletion of genetic material in the long arm 12 region of chromosome 5. The deletion usually occurs as a newly-arising mutation and is rarely inherited from a parent. The deleted gene can affect neurodevelopment and body functions in a variety of ways.

2. Symptoms

• Developmental delay: Language and motor development may be delayed.Intellectual disability may also be present.
• Behavioral problems: Behaviors associated with autism spectrum disorders and attention deficit hyperactivity disorder (ADHD) may be present.
• Internal organ abnormalities: Internal organ abnormalities, such as heart and kidney problems, may be present.
• Facial abnormalities: may have a characteristic facial shape, which varies from person to person.

3. Remedy

Although there is no radical cure, the following assistance is provided

• Developmental Support and Rehabilitation: Skills are improved through speech, physical, and occupational therapy.
• Visceral management: Medical support for visceral issues is provided as needed.
• Behavioral Therapy: Counseling and behavioral therapy are used to support behavior.

4. Aftereffects

Early medical care and support may be effective, but intellectual disabilities and behavioral problems often remain. Appropriate medical support can improve quality of life.

5. Burden on Parents

Regular medical treatment and support for medical care and education are required, which increases the financial and time burden for parents.It is important to take advantage of local support systems and social services.