About 3p25.3 deletion syndrome

1. Causes of the disease

3p25.3 deletion syndrome is a genetic disorder caused by the deletion of part of the short arm of chromosome 3 (3p25.3). This deletion usually occurs as a new mutation, but in rare cases it can be transmitted genetically. This chromosomal deletion affects multiple genes involved in development, growth, and nervous system function, resulting in a variety of symptoms. Symptoms may vary in severity and content depending on the extent of the deletion and the type of gene affected.

2. Symptoms

Symptoms of 3p25.3 deletion syndrome vary from person to person, but some of the main symptoms include:

• Developmental delays and intellectual disability:
  Delays in the development of language, motor and social skills are common and may be accompanied by mild to moderate intellectual disability. Language development is particularly likely to be delayed.
• Behavioral and psychological problems:
  Behavior similar to traits of Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD) may be reported, as well as difficulties controlling behavior and impulsivity.
• Physical characteristics:
  Facial features may be present, such as a broad forehead, a distinctive nose, abnormal eye shape, ear position or shape, and/or abnormal limb and skeletal abnormalities.
• Internal organ abnormalities
  Some patients may have cardiac or renal abnormalities that may require medical management.
• Abnormal muscle tone:
  Low muscle tone (weak muscles) can cause difficulty in learning to walk and move around.

3. Medical Treatment

There is no cure for 3p25.3 deletion syndrome, but support and management of individual symptoms can improve quality of life.

• Developmental support and therapy
  We support development through speech therapy, physical therapy, and occupational therapy, aiming to improve life skills. Individualized therapy plans are important.
• Behavioral therapy and psychological supportBehavioral
  therapy and psychological support are provided to support behavioral problems. Cooperation with families and schools is also essential.
• Internal Organ Management and Specialist Medical Care
  If you have any physical complications, such as cardiac or renal abnormalities, you will receive regular follow-up and necessary treatment from specialists.
• Physical therapy and occupational therapy
  Appropriate physical therapy is provided to reduce muscle tone and improve motor function.

4. Prognosis

The prognosis for 3p25.3 deletion syndrome depends on the individual patient’s symptoms, the extent of the deletion, and whether or not they receive appropriate support and medical care. Early intervention and support can improve developmental delays and social skills in some cases, but many cases of long-term intellectual disability and behavioral problems require ongoing support. Proper medical and educational support can significantly improve the patient’s quality of life.

5. The burden on parents

Raising a child with 3p25.3 deletion syndrome places a great burden on families.

• Burden of medical management:
  Requires physical health management, including cardiac and renal complications, and regular visits to specialists.
• Burden of developmental support and education
  In order for children to receive individual support, they need support at home and special support at school. It is important for parents to be actively involved.
• Financial burden:
  Medical expenses and care costs are often high and can place a strain on household finances. It is necessary to utilize public support systems and local welfare services.
• The emotional toll:
  Worries about the child’s future and the everyday stresses of caregiving can weigh heavily on families. Support groups and connections to specialists can provide emotional support.
• Support for local communities and welfare services
  It is important to utilize local support groups and welfare services to reduce the burden on the entire household.