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Neural Tube Defects

Neural tube defects (NTD) are congenital malformations that involve the spinal cord to varying degrees and can affect nerve function to various organs and extremities.

The malformations range from a spectrum of mild to severe abnormalities, with spina bifida being the most common and well-known malformation. Each anomaly is unique.

The body parts that can be affected with impaired function primarily include the urinary bladder, the lower part of the intestine, and motor and/or sensory abilities in the legs. In some individuals with spina bifida, cerebrospinal fluid circulation may also be affected and potentially cognitive abilities as well.

The  symptoms of Neural tube defects (NTD) can vary widely depending on the type and severity of the defect. Here are some of the more common symptoms.

 

  • Partial paralysis: Individuals may experience varying degrees of paralysis, particularly in the lower limbs, depending on the location and severity of the NTD.
  • Loss of sensation: There may be a reduced ability to feel touch, heat, or cold, especially in the legs or lower parts of the body.
  • Hydrocephalus: Many affected individuals develop this condition where excess fluid accumulates in and around the brain, potentially leading to increased head size, and in some cases, cognitive impairment.
  • Bowel and bladder control problems: Due to nerve damage, individuals may have difficulty controlling bowel movements and urination.
  • Physical deformities: Depending on the type of NTD, there may be visible signs such as a small gap or opening in the back, or more severe spinal deformities.

Treatment for Neural Tube Defects (NTD) varies based on the type and severity of the defect but generally includes a combination of surgical, medical, and supportive therapies. For instance:

 

  • Surgical Intervention: Includes prenatal and postnatal surgeries to repair the spinal or skull defect and, if needed, shunting procedures to treat hydrocephalus.
  • Rehabilitation Therapies: A combination of physical, occupational, and sometimes speech therapy to improve mobility, daily living skills, and overall development.
  • Bowel and Bladder Management: Techniques and possible surgeries to manage and maintain proper bladder and bowel function.

The neural tube defects (NTD) team cares for children and adolescents up to 18 years of age and is multidisciplinary to address all medical needs. An individual with a neural tube defect may have contact with multiple specialties or only a few depending on their needs.

The team consists of urotherapists, pediatric neurologists, nurse assistants, urologists, orthopedic surgeons, and neurosurgeons. Collaboration also exists with spine orthopedics, fetal medicine, pediatric rehabilitation, and other specialists at the children's hospital.

The NTD team is part of the European Reference Network (ERN) for eUROGEN as well as the ERN ITHACA WG on SBoD.