About 3q13.31 Deletion Syndrome

1. Causes of the disease

3q13.31 deletion syndrome is a genetic disorder caused by a gene deletion in the 13.31 region of the long arm of chromosome 3 (3q). This deletion usually occurs as a de novo mutation, but in rare cases it can be inherited genetically from a parent. Depending on the extent of the deletion and the genes affected, it can have a variety of effects on development, growth, and physical function. The 3q13.31 region contains important genes involved in development and the nervous system, and the deletion of these genes causes specific symptoms.

2. Symptoms

Symptoms of 3q13.31 deletion syndrome vary from person to person and often depend on the extent of the deletion and the genes affected. Common symptoms include:

• Developmental delay 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. Walking and speech development are commonly delayed.
• Behavioural and psychological problems:
  Behaviours associated with Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) may be reported, as well as emotional instability and impulsive behaviour.
• Physical characteristics:
  Facial and skeletal abnormalities may be observed, such as low-set ears, distinctive facial features, and broad foreheads. Abnormal limb morphology may also be observed.
• Abnormal muscle tone:
  Motor skills may be slow to develop due to decreased muscle tone. This can lead to difficulties with walking and balancing.
• Internal Organ Abnormalities
  Cardiac, renal, and digestive system abnormalities may be present and may require special medical management.

3. 治療

There is no cure for 3q13.31 deletion syndrome, but appropriate support and management is important, depending on the symptoms. The following methods are commonly used:

• Developmental Support and Therapy:
  We support the development of language and motor skills through speech therapy, physical therapy, and occupational therapy. Individualized treatment plans are effective.
• Behavioral therapy and psychological support
  Behavioral problems can be treated with behavioral therapy and counseling, and support is provided to improve social skills. Support at school and at home is essential.
• Organ management and medical support:
  Cardiac and renal problems are treated and monitored by specialists on an ongoing basis. Surgical treatment may be provided if necessary.
• Physical therapy and occupational therapy
  Physical therapy is performed to reduce muscle tone and improve motor function, and support is provided to maintain and improve basic physical functions.

4. Prognosis

The prognosis of 3q13.31 deletion syndrome depends largely on the extent and severity of the deletion, and whether appropriate interventions and medical support are available. Early and appropriate support can improve life and social skills in some cases, but intellectual disabilities and behavioral challenges typically persist. Individualized support plans are important, and long-term follow-up is necessary.

5. The burden on parents

Raising a child with 3q13.31 deletion syndrome can be a medical, financial, and emotional burden for families.

• Burden of medical care:
  Regular medical check-ups are required to manage cardiac, renal and other internal organ complications, and in some cases special medical care and treatment may be required.
• Burden of developmental support
  Parents must play a central role in providing therapeutic education and developmental support, as they are expected to be actively involved in the process. Cooperation with schools and educational institutions is also important.
• Financial burden:
  Families may be financially burdened by medical expenses, special support services, etc. It is recommended that families make use of public assistance.
• The emotional burden
  can weigh heavily on parents, as they worry about their child’s development and future, and are stressed by the everyday stress of caring for and supporting them. Family support groups and specialist help can help ease this emotional burden.
• Utilizing local communities and welfare services
  It is important to work with local welfare services and support organizations to support children’s development while reducing the burden on them.