About 2q13 Duplication Syndrome

1. Causes of the disease

2q13 duplication syndrome is a genetic disorder caused by a duplication of part of the long arm of chromosome 2 (2q13). This duplication usually occurs as a de novo mutation, but can also be inherited. This duplication of a gene region can lead to excessive gene expression and abnormal function, which can cause developmental delays and affect behavior and physical characteristics.

2. Symptoms

Symptoms of 2q13 duplication syndrome depend on the extent and nature of the duplication and may vary from individual to individual, but common symptoms include:

• Developmental delay and intellectual disability
  Development of language, motor and social skills is often delayed and there may be mild to moderate intellectual disability.
• Behavioral and psychological problems:
  Behaviors similar to Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) may be reported, as well as anxiety, emotional instability, and impulsive behavior.
• Physical characteristics:
  Facial features and skeletal abnormalities may be present, particularly in the shape of the face and the position and shape of the eyes and ears.
• Cardiac and genitourinary abnormalities
  Some patients have congenital abnormalities of the heart, kidneys, or genitourinary system.
• Epileptic seizures
  Epilepsy may occur and seizure management may be required.

3. 治療

There is no specific treatment for 2q13 duplication syndrome, but symptoms are treated and supported. Common management options include the following:

• Developmental support and interventions:
  Efforts will be made to address developmental delays through speech, physical and occupational therapy. An individualized intervention plan is important.
• Behavioral therapy and psychological support
  Behavioral problems are treated through behavioral therapy and counseling. Cooperation with schools and families is also important.
• Managing epilepsyIf
  you have seizures, antiepileptic drugs are used to control them.
• Management of physical complications:
  Cardiac, renal and genitourinary abnormalities are evaluated and managed by appropriate specialists, including surgery if necessary and regular follow-up.

4. Prognosis

The prognosis of 2q13 duplication syndrome depends largely on the individual symptoms, the extent of the duplication, and whether or not appropriate support is provided. Early intervention and appropriate medical support may make up for developmental delays and improve social skills. However, intellectual disabilities and behavioral problems often persist for a long time, so continued support is necessary.

5. The burden on parents

Families raising a child with 2q13 duplication syndrome face many burdens.

• Burden of medical management:
  Ongoing medical management for epilepsy, cardiac and renal complications is required, with regular check-ups and follow-ups with specialists required.
• Developmental support and the burden of education
  In order to support children’s development, it is necessary to provide special support at home and in educational settings. It is important to formulate an individual support plan and provide therapeutic education.
• Financial burden:
  Medical expenses, childcare costs, and the use of developmental support services can place a financial burden on families. It is important to use public assistance to reduce this burden.
• Emotional strain
  Parents may feel anxious about their child’s development and future, and feel stressed by the day-to-day caregiving responsibilities. Support groups and counselling may help ease the emotional strain.
• The need for community and societal support
  It is important to cooperate with local welfare services and support organizations and find ways to reduce the burden on the entire household.