About 3pter-p25 deletion syndrome

1. Causes of the disease

3pter-p25 deletion syndrome is a disease caused by the deletion of genes from the end of the short arm (p) of chromosome 3 to the p25 region. This deletion usually occurs as a new mutation, but in rare cases it can be inherited from a parent. The deleted genes include genes involved in development, neurological function, growth, and various bodily functions, causing a variety of symptoms. Symptoms tend to be more severe when the deletion is large or when important genes are involved.

2. Symptoms

Symptoms of 3pter-p25 deletion syndrome vary depending on the extent of the deletion and the individual patient, but common features include the following:

• Developmental delays and intellectual disability
  Delays in the development of language, motor and social skills are present and are often accompanied by mild to severe intellectual disability, particularly delayed language development.
• Physical characteristics:
  They may have certain facial features, such as a small chin, broad forehead, low nasal bridge, and ptosis, and may have abnormal limb morphology.
• Abnormal muscle tone:
  Poor muscle tone is common and may delay motor development. Children may have difficulty mastering basic motor skills such as walking and standing.
• Behavioral and psychological problems:
  Behaviors associated with Autism Spectrum Disorder (ASD) may be seen, including behaviors similar to Attention Deficit Hyperactivity Disorder (ADHD), as well as emotional instability and impulsive behavior.
• Visceral anomalies:
  Some patients have structural cardiac and renal anomalies that require medical management, and gastrointestinal and genitourinary system anomalies have also been reported.

3. Medical treatment

There is no cure for 3pter-p25 deletion syndrome, but support is available to help manage the individual symptoms. The main treatments and management methods are:

• Developmental support and interventions
  Interventions are provided to support language and motor skills through speech therapy, physical therapy, and occupational therapy. Early interventions are most effective.
• Behavioral therapy and psychological support
  If a child has behavioral problems or needs psychological support, we provide behavioral therapy and counseling. It is important to work with parents and schools to create an appropriate environment.
• Internal organ management and specialist medical care
  Physical complications such as cardiac and renal abnormalities will be followed up and managed by specialists on an ongoing basis. Surgical treatments and regular check-ups may be performed if necessary.
• Physical therapy
  Physical therapy is performed to improve muscle tone and motor function. It supports the maintenance and improvement of basic physical functions.

4. Prognosis

The prognosis for 3pter-p25 deletion syndrome depends on the extent and severity of the deletion and whether or not appropriate support is provided. Early intervention and support may enable some individuals to acquire certain developmental skills, but many individuals continue to suffer from long-term intellectual disabilities and behavioral challenges, requiring ongoing support. Treatment and support tailored to individual symptoms can improve the quality of life for patients.

5. The burden on parents

Raising a child with 3pter-p25 deletion syndrome places many burdens on families.

• Medical Burden:
  Cardiac, renal and other physical conditions need to be managed, requiring regular specialist visits.
• Burden of developmental support and education
  Special support requires therapy and education, and active involvement of parents is required. Cooperation with schools and support organizations is important.
• Financial burden:
  Medical expenses, childcare expenses, and special support expenses can place a financial burden on families. It is recommended that families use public support and welfare services to reduce this burden.
• Emotional strain
  Concerns about a child’s development and health, and the stresses of day-to-day caregiving and support can have a major impact on parents and families. Family support groups and counselling can help ease the emotional strain.
• Collaboration with the local community and welfare services
  It is important to work with local support services and welfare agencies to support children’s development while reducing the burden on the entire family.