About 2q13 Deletion Syndrome

1. Causes of the disease

2q13 deletion syndrome is a genetic disorder caused by the partial deletion of a genetic region on the long arm of chromosome 2 (2q13). The deletion usually occurs as a new mutation, but rarely occurs in families. Depending on the extent and nature of the deletion, different genes are affected, and therefore the type and severity of symptoms vary. The deletion of this genetic region can cause developmental delays, behavioral problems, and physical abnormalities.

2. Symptoms

Symptoms of 2q13 deletion syndrome are highly individual and vary depending on the extent and impact of the deletion. The most common symptoms are as follows:

• Developmental delay and intellectual disability:
  Delays in the development of language, motor and social skills are common, and the degree of intellectual disability varies from person to person. Delays in speech and learning are characteristic.
• Behavioral and psychological problems:
  Behaviors similar to those of Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) may be present, as well as anxiety, impulsive behavior, and difficulties with behavioral regulation.
• Physical characteristics and malformations,
  facial features, skeletal abnormalities, limb deformities, cardiac and renal abnormalities may be observed. The severity and onset of symptoms vary greatly from person to person.
• Epileptic seizuresSome
  patients may experience epileptic seizures and require seizure management.
• Endocrine problems
  Some patients also report endocrine abnormalities, such as hormonal imbalances that can affect growth and development.

3. Medical Treatment

There is no cure for 2q13 deletion syndrome, but appropriate management and support are provided according to the symptoms.

• Developmental support and intervention:
  Efforts are made to address developmental delays through speech therapy, physical therapy, and occupational therapy. Early intervention can help improve symptoms.
• Behavioral therapy and psychological support
  Support is provided for behavioral problems and psychological issues, and behavioral therapy and counseling are effective. Cooperation with families and schools is important.
• Epilepsy Management
  If epilepsy occurs, seizures are controlled with antiepileptic drugs and should be managed by a specialist.
• Management of physical complications
  Physical complications such as cardiac, renal and skeletal abnormalities are managed medically. Surgery and regular check-ups are performed as needed.

4. Prognosis

The prognosis of 2q13 deletion syndrome depends on the extent of the deletion, the severity of symptoms, and whether or not appropriate support is provided. Early and appropriate medical care and support can help patients overcome developmental delays and acquire certain social skills. However, intellectual disabilities and behavioral problems often persist, and long-term support may be required. Regular medical follow-up and appropriate medical care are key factors in improving the quality of life of patients.

5. The burden on parents

Raising a child with 2q13 deletion syndrome places many burdens on families.

• Burden of medical management
  : Ongoing management of epilepsy, cardiac and renal complications is required. Regular consultations with specialists are required.
• Developmental support and educational burden:
  Individual support and special education are necessary, and therapeutic education must be provided at home. Active parental involvement is important.
• Financial burden:
  The financial burden can be large due to medical expenses and the use of developmental support services. It is necessary to utilize public support and welfare systems to reduce this burden.
• Emotional strain:
  Worries about the children’s future and the stresses of day-to-day caregiving can take a toll on parents and families. Support groups and counselling can help.
• Collaboration with the
  local community and society It is important to collaborate with local support services and welfare organizations and find ways to reduce the burden on the entire household.