Condition: Spina bifida refers to a developmental birth defect that occurs when the spinal cord does not completely close during fetal development. Types of defects differ in severity and include anencephaly, spina bifida occulta, meningocele, and myelomeningocele (MM). The MM form is typically the condition referred to as “spina bifida” and involves protrusion of the membrane that covers the spinal cord and the spinal cord itself from the back. This requires a surgical closure within the first few days after birth.
Background: MM results from failure of normal prenatal development of the neural tube, which is usually completely closed by day-28 of gestation.
Risk Factors: Most cases occur sporadically, although risk factors in the mother include folic acid deficiency, obesity, diabetes, increased body temperature, and certain medications. The risk for recurrence in a family is 3-5%.
History and Symptoms: In newborns, a build-up of fluid in the brain (hydrocephalus) is usually present, requiring a shunt to be placed in the brain. Difficulties with feeding, breathing, or swallowing are typical in babies. Developmental delays are also common. Weakness (even paralysis) in the legs, bowel and bladder problems, seizures, and scoliosis are often observed. Vision and mental impairments may be present. During adolescence, problems with walking and physical activity are common. Patients may also have a “tethering” of their repaired spinal cord, which can lead to further pain and weakness. In adults, obesity, blood clots, and metabolic syndrome commonly occur.
Physical Exam: A physical exam will be performed to evaluate the nerves, mental ability, sensation, strength, reflexes, and walking ability of the patient. The spine, shoulders, hips, knees, and feet will be examined. Head circumference will be measured in combination with evaluation of growth of the patient. Skin integrity at the site of the open spinal cord will be assessed as well. Developmental (gross motor, fine motor, language, and mental ability), behavior, ability to take care of oneself, and mood evaluations are essential.
Diagnostic Process: A blood test of the mother during pregnancy at 16-18 weeks gestation can be used for screening, and diagnosis of spina bifida can be confirmed with ultrasound and amniocentesis, which involves testing a small sample of amniotic fluid. In patients with suspected spina bifida, MRI of the spine can be used to evaluate for complications. Brain CT scans can be used to evaluate hydrocephalus and viability of a shunt, and X-rays can be used to evaluate scoliosis. Other tests may be used to investigate specific symptoms in spina bifida patients.
Rehab Management: The specifics of rehabilitation depend on the particular site of open neural tube, severity, the age of the patient, and mental impairment. Surgery is used to close the opening in the spine, and then patients participate in functional rehabilitation with exercises to encourage and support walking and developmental growth. Walkers, braces, or wheelchairs may be used as well. Bladder and bowel problems are also treated. It is important to partner with schools to make sure they are aware of the patient’s physical and cognitive issues so that the child may receive the adequate assistance and resources during their education.
Other Resources for Patients and Families: Families of children with spina bifida require extensive education on the complexity of the defect and the medical needs of the child. Support and advocacy groups, counseling, and respite care are available for families. Community resources for recreational activities and support may be helpful for patients.