About Dandy-Walker Syndrome (DWS)

1. Causes of the disease

Dandy-Walker syndrome (DWS) is a congenital disorder of the nervous system caused by abnormal development of the cerebellum and the fourth ventricle at the back of the brain. Specifically, the cerebellar vermis is absent or incompletely developed, the fourth ventricle is enlarged, and the posterior fossa is abnormally enlarged. The syndrome is usually caused by disruption of brain development during fetal life and has multiple causes.

• Genetic factors
  In some cases, genetic mutations or abnormalities may be involved, but in many cases it is difficult to identify the genetic factors.
• Environmental factors
  Environmental factors during fetal development, such as infection during pregnancy or exposure to certain drugs or toxins, may also play a role.

2. Symptoms

Symptoms of Dandy-Walker syndrome vary from individual to individual and can range from mild to severe. The main symptoms include:

• Abnormally enlarged head (hydrocephalus)
  Increased pressure within the skull can cause the head to enlarge abnormally.
• Motor dysfunction
  : Cerebellar abnormalities can result in loss of balance, difficulty coordinating movements, and trouble walking.
• Developmental Delays:
  The development of language, motor and social skills may be delayed. Motor skills are particularly affected.
• Symptoms of increased intracranial pressure
  Symptoms related to increased intracranial pressure may occur, including headache, vomiting, abnormal eye movements, and impaired consciousness.
• Intellectual disability
  Some patients may have intellectual disability, the severity of which varies from person to person.
• Malformations of the brain, spinal cord, or
  other central nervous system may also occur.

3. 治療

Treatment of Dandy-Walker syndrome is primarily aimed at managing symptoms. There is no cure, but the following methods may be used to improve the patient’s quality of life:

• Managing Hydrocephalus
  For hydrocephalus, a condition caused by increased intracranial pressure, shunt surgery to drain cerebrospinal fluid may be performed.
• Physical and Occupational Therapy
  Rehabilitation is carried out to improve mobility. It aims to improve balance and motor skills.
• Speech Therapy
  If there is a delay in speech development, speech therapy can be used to improve communication skills.
• Depending on the symptoms
  , medication may be prescribed to manage headaches or suppress seizures.

4. Prognosis

The prognosis of Dandy-Walker syndrome depends on the severity of symptoms, how quickly treatment is administered, and whether or not appropriate support is provided. Early diagnosis and appropriate medical and educational care can improve motor skills and quality of life. However, in cases where severe intellectual and motor disabilities are also present, long-term support in daily life is often required. Support and long-term care tailored to each individual patient is important.

5. The burden on parents

Raising a child with Dandy-Walker syndrome places many burdens on families.

• Medical Burden
  Hydrocephalus requires management, surgery and regular medical examinations, which can be burdensome in terms of medical expenses and travel to the hospital.
• Burden of developmental support and medical care
  Because daily support such as rehabilitation and speech therapy is required, parents need to be actively involved. It is important to provide support in cooperation with schools and welfare services.
• Financial burden:
  There may be costs associated with using special medical and rehabilitation services. It is recommended that you utilize public support systems.
• Emotional strain
  Concerns about a child’s development and health, and the stresses of day-to-day caregiving can affect parents and families. Family support groups and professional help may help ease the emotional strain.
• Necessity of social support
  Cooperation with local welfare services and support groups is important to reduce the burden on the whole family. In many cases, utilizing support from the community is a factor in improving quality of life.