About 3q26 Microduplication Syndrome

1. Causes of the disease

3q26 microduplication syndrome is a genetic disorder caused by a duplication of more than the usual number of genes in the 26 region of the long arm of chromosome 3. The duplication usually manifests as a de novo mutation, but in some cases may be inherited from a parent. The duplicated genes affect normal development and function of the nervous system, resulting in a variety of symptoms. The severity and type of symptoms vary from person to person, depending on the extent of the duplication and the genetic influence.

2. Symptoms

Symptoms of 3q26 microduplication syndrome vary from patient to patient, but common features include:

• Developmental delay and intellectual disability:
  Delays in speech, motor and cognitive development may be present, and may be accompanied by mild to moderate intellectual disability. Delays in language development may be particularly noticeable.
• Behavioral and psychological problems:
  Behaviors associated with Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) may be observed, as well as impulsivity, anxiety, and moodiness.
• Physical characteristics
  Some patients may have facial and skeletal abnormalities, such as a low nasal bridge, a broad forehead, or distinctive eye shape, and may have abnormalities of the hands and feet.
• Growth abnormalities
  Growth failure may be reported in some patients, and height and weight development may be delayed.
• Internal Organ Abnormalities
  Cardiac, renal, and digestive system abnormalities may be seen and may require special medical management.
• Epileptic seizures
  Epileptic seizures may occur and require proper management and treatment.

3. 治療

There is no cure for 3q26 microduplication syndrome, but support and management can be individualized depending on the patient’s symptoms. Approaches include:

• Developmental and Therapeutic
  Care: Children will receive help to improve their language and motor skills through speech, physical and occupational therapy. An individualized treatment plan is important.
• Behavioral therapy and psychological support
  Behavioral problems can be treated with behavioral therapy and counseling, and support for improving social skills is provided. Support at home and at school is important.
• Management of internal organs and specialized medical care
  . Cardiac and renal disorders are treated by specialists and undergo ongoing follow-up. Surgical treatment may be performed if necessary.
• Managing epilepsyIf
  you have seizures, you may be treated with anti-epileptic drugs.
• Physical therapy
  Physical therapy is performed to improve muscle tone and motor function, thereby improving basic physical functions.

4. Prognosis

The prognosis for 3q26 microduplication syndrome depends on the severity of symptoms and whether or not appropriate support is provided. Early intervention can help compensate for developmental delays and improve social and motor skills. However, many children continue to have intellectual disabilities and behavioral problems, so long-term support is necessary. Creating an individual care plan and working with experts to provide appropriate support can improve the prognosis.

5. The burden on parents

Raising a child with 3q26 microduplication syndrome can be a medical, financial, and emotional burden for families.

• Burden of medical management
  If you have internal organ complications or need to manage epilepsy, you will need to visit the hospital regularly and the medical costs will increase.
• The burden of developmental support:
  In order to receive medical treatment and special support, parents need to be centrally involved and support at home is required. Cooperation with educational institutions is important.
• Financial burden:
  Medical expenses, childcare expenses, and expenses associated with using special support services can place a financial burden on families. It is recommended that you make use of public assistance.
• Emotional strain
  Worries about a child’s development or health, and the stresses of everyday caregiving can affect parents and families. Support groups and professional support may be helpful.
• The need for social support
  It is important to work with local support groups and welfare services to help children develop better while reducing the burden on the entire family.