About 2q31.1 Duplication Syndrome

1. Causes of the disease

2q31.1 duplication syndrome is a genetic disorder caused by a duplication of genes in the 2q31.1 region of the long arm of chromosome 2. The duplication usually occurs as a de novo mutation and is rarely inherited in families. The 2q31.1 region contains genes involved in development, growth, and neurological function, and their overexpression causes a variety of symptoms. Symptoms and severity vary from person to person depending on the extent of the duplication and the genes affected.

2. Symptoms

The symptoms of 2q31.1 duplication syndrome are highly variable and depend on the extent and effect of the duplication. Common symptoms include:

• Developmental delay and intellectual disability:
  There may be delays in the development of language, motor and social skills, and there may be mild to severe intellectual disability. There is often delay in learning to walk and speak.
• Behavioral and psychological problems:
  Behaviors associated with Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) may be present, as well as impulsivity, anxiety and emotional instability.
• Physical characteristics
  : Certain facial features (e.g., eye, nose, and ear position) and characteristic morphological abnormalities of the body may be present. There may also be abnormalities in the shape of the hands and feet.
• Poor muscle tone (hypotonicity)
  Muscles are weak, which can limit the ability to move and cause delays in walking and standing.
• Abnormalities of internal organs
  : There may be malformations of internal organs such as the heart or kidneys, which may require regular medical management.
• Epileptic seizures
  Epileptic seizures have been reported and seizure management may be necessary.

3. Medical Treatment

There is no cure for 2q31.1 duplication syndrome, but quality of life can be improved through support and management of symptoms.

• Developmental support and therapy
  Developmental support is provided using speech therapy, physical therapy, occupational therapy, etc., and aims to improve life skills through individual therapy plans. Early intervention is effective.
• Behavioral therapy and psychological support
  Behavioral therapy and counseling are used to support behavioral and psychological problems. Cooperation with families and schools is important.
• Managing epilepsy
  If seizures occur, treatment will involve using antiepileptic drugs to control the seizures.
• Management of physical abnormalities:
  If there are visceral malformations or skeletal abnormalities, appropriate specialist care and follow-up is required. Surgery and continued observation may be required if necessary.

4. Prognosis

The prognosis of 2q31.1 duplication syndrome depends on the individual’s symptoms, the extent of the duplication, and whether appropriate medical and educational support is available. Early intervention and support can help compensate for developmental delays and improve skills necessary for daily life. However, long-term support is necessary because intellectual disabilities and behavioral problems often persist. Collaboration with specialists and educational support organizations is important, and regular follow-up contributes to improving the prognosis.

5. The burden on parents

Raising a child with 2q31.1 duplication syndrome places many burdens on families.

• Burden of medical care
  : Special medical care is required for some people, such as those with cardiac or renal complications or epilepsy, and regular visits to the hospital are required.
• Burden of developmental support and education:
  Individualized medical care and special support are necessary, and continuous support is required at home. Cooperation with educational institutions and specialized institutions is also important.
• Financial burden:
  Medical expenses, childcare expenses, and the costs associated with using developmental support services can become a financial burden on families. It is recommended that families make use of public support systems.
• Emotional strain
  Worries about the child’s development and future, and the stresses of day-to-day caregiving can have a major impact on parents and families. Support groups and counselling may be helpful.
• Support for local communities and welfare services:
  It is necessary to work with local welfare services and support groups to reduce the burden on families. Utilizing local support can reduce the burden and make it easier to care for children.