About 2q31.1 Microdeletion Syndrome

1. Causes of the disease

2q31.1 microdeletion syndrome is a genetic disorder caused by a small genetic deletion in the 2q31.1 region of the long arm of chromosome 2. The deletion usually occurs as a new mutation and is unlikely to be inherited from parents. The extent of the deletion may affect different genes, which may affect the type and severity of symptoms. This genetic region contains important genes involved in development, growth, and other bodily functions, so the deletion can have a variety of effects.

2. Symptoms

Symptoms of 2q31.1 microdeletion syndrome vary depending on the extent and effect of the deletion, but 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 may be delayed.
• Physical Features and Anomalies
  Physical features may include abnormalities of the fingers (e.g. syndactyly, brachydactyly), distinctive facial features, and abnormal body proportions.
• Behavioural and psychological problems
  Behaviours associated with Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD) may be present. Behavioural difficulties are common and may include impulsivity and anxiety.
• Low Muscle Tone (Hypotonia)
  Hypotonia (weak muscles) may make walking and exercise difficult.
• 
  Some patients may have abnormalities of the heart, kidneys, and digestive system. Individual symptoms vary but should be managed appropriately .

3. Medical Treatment

Treatment for 2q31.1 microdeletion syndrome is primarily focused on providing support for symptoms, which may include:

• Developmental support and therapy
  Developmental support is provided using speech therapy, physical therapy, and occupational therapy. Individualized treatment plans are required, and early intervention is effective.
• Behavioral therapy and psychological support
  Behavioral therapy and counseling may be provided to support behavioral problems. Cooperation with families and educational institutions is important to improve social skills.
• Management of physical abnormalities
  : Physical complications such as heart or kidney problems will be examined and managed by specialists and, if necessary, surgical procedures may be considered.
• Physical therapy and occupational therapy
  Physical therapy and occupational therapy are performed to reduce muscle tone and improve motor skills. The goal is to improve physical function.

4. Prognosis

The prognosis for 2q31.1 microdeletion syndrome varies depending on the extent of the deletion, the severity of symptoms, and the type of support provided. With appropriate intervention and medical support, it is possible to improve development and quality of life. However, intellectual disabilities and behavioral problems often persist, and long-term support is often required. It is important to work with medical and educational experts to provide support tailored to individual needs.

5. The burden on parents

Families raising a child with 2q31.1 microdeletion syndrome face many everyday burdens.

• Medical burden
  Managing physical complications, such as heart, kidney and hand problems, can be a medical burden. Regular check-ups and treatments are required.
• The burden of developmental support
  Individualized therapy and special education are required, and parents need to be actively involved. Support at home also plays an important role.
• Financial burden:
  Medical expenses and developmental support costs can add up and affect household finances. It is necessary to utilize welfare services and public assistance.
• Emotional burden
  Concerns about the child’s health and development and the stresses of day-to-day caregiving can weigh heavily on parents and other family members. Family support groups and professional counselling may help.
• The need for social support
  It is important to find ways to reduce the burden on the entire household by coordinating with local welfare services and support groups.