What is Spina Bifida?
Spina bifida is a congenital anomaly that occurs when the spinal cord and spine do not close during the fetal period. It is the second most common disease that causes disability in childhood. It is one of the most complex congenital anomalies that can be encountered in human life. It is a complex syndrome affecting the musculoskeletal and genitourinary system. Its frequency is 1-2 to 1000. Folic acid can reduce this frequency of use by about 70%.
It is the closure defect of the spinal cord and spine in the first weeks of embryonic life. They use the terms myelomeningocele, spina bifida, spina bifida cystica and myelodysplasia synonymously. The defect is usually recognized at birth by the presence of an external pouch in the back or waist area. There are usually structures related to the spinal cord in the sac. Even if the defect is seen at any level of the spine, it is most common in the lumbar region.
What are the Clinical Types of Spina Bifida?
A) Spina Bifida Cystica
It is the cystic form of spina bifida. There are three types of it; meningocele, myelomeningocele and myelosis.
Meningocele; cystic enlargement. The defect is covered with the skin, the neurological structures are in the canal and there may be no neurological damage since they are not damaged much.
Myelomeningocele, herniated sac contains the spinal cord membranes, nerve roots and the spinal cord itself. Spina is the most important and common type of bifida. Neurological problems are common. When the baby is born, it should be directed to surgery and the defect should be closed.
myelochia; It is the most severe form, the nerve tissue is completely exposed.
B) Spina Bifida Occult
It is only the bone defect in the back of the spine where the spinal cord is not involved. There may be dermal pit, hair bundle or increased pigmentation in the sacral area. It can be seen in a large number of healthy people.
What Are Spina Bifida Risk Factors?
Although many risk factors can be considered, the exact cause is not clear. Normal prenatal development of the neural tube starts on the 16th day and is completed on the 28th day. Closure defects occur during this period. In other words, the defect occurred before the mother knew that she was pregnant.
- Folate deficiency, increasing the mother’s folate level significantly reduced the formation and recurrence of neural tube defects.
- Vitamin B12 deficiency
- Maternal age; Common in mothers over 40 and under 19
- Exposure to toxic substances; especially exposure to pesticides
- It is necessary to avoid high body temperature of the mother during pregnancy and excessive temperature in the first trimester of pregnancy.
- Excessive coffee consumption, especially excessive coffee consumption one year before pregnancy, but caffeinated tea has a protective effect.
- Medicines; methotrexate, trimethoprine, sulfonamides, antidepressants, antiepileptics
- High risk in women with pregestational diabetes
What are the Clinical Symptoms?
- Loss of strength and paralysis in the arms or legs depending on the affected area
- Loose or spastic paralysis
- Loss of sensation
- Stretched cord
- Neurogenic bladder and bowel
- Hip dislocation, contractures in hips and knees, foot deformities
- Obesity, short stature, precocious puberty
- Increased risk of osteoporosis with fractures
- Serious impairments in visual perception skills and attention
- Sexual dysfunction and fertility
- Increased frequency of depression
- High latex allergy
What is Applied in the Treatment of Spina Bifida?
Maternal serum alpha-protein (AFP) or detailed USG are frequently used to determine the presence or possibility of spina bifida in the fetus. Serum AFP measurement is made 16-18 weeks after fertilization. Detailed USG of pregnancy 14-16th. May reveal the presence of spina bifida at week. As a result, if the diagnosis of spina bifida becomes definite, pregnancy can be terminated or families who do not terminate their pregnancy are prepared for a safe delivery. Such babies should be delivered by cesarean section in a comprehensive center.
First of all, the defect should be closed within the first 48 hours after birth in order to reduce the risk of infection and to protect the existing neurological function. Shunts may be required in those with hydrocephalus. Most patients have a neurogenic bladder. Urological and nephrological treatment should be started immediately after birth to prevent kidney damage.
What to do in Spina Bifida Rehabilitation?
Early rehabilitation includes bladder and bowel care, prevention of contractures, hip dislocation and spine deformity, normal walking with orthoses, and use of a wheelchair. Families are taught early positioning, holding and transferring the baby, and range of motion exercises for those with hip and knee contractures. Rehabilitation should be done according to the lesion level, age of the child, and accompanying problems.
What Are the Common Problems in Spina Bifida?
- Hip Problems and Treatment: Hip deformities in children are caused by weakness and imbalance of the muscles around the hip. It can cause pelvic curvature and subsequent scoliosis if not treated properly. Surgery for correcting hip deformities is mostly performed to correct hip contractures.
- Scoliosis Treatment: Progressive scoliosis may be due to congenital spinal malformations, muscle imbalance and some neurological disorders. Spinal orthoses and functional strengthening exercises can be given to patients with scoliosis less than 50 degrees to correct sitting balance, to control the inclination during growth, and to delay surgery. Scoliosis surgery is controversial. In those with limited sitting function, surgery can correct the sitting balance.
- Fractures: Common in the lower extremities. It is often seen after falls in walking patients. It is mostly caused by osteoporosis in those who cannot walk. It may not be very distinguishable since it has no sense of pain. However, erythema, swelling, local temperature increase may occur. Fractures heal quickly in children with spina bifida. It should be treated with non-surgical methods.
How Does Spina Bifida Child Walk?
The possibility of walking in children with spina bifida depends primarily on the level of the lesion, the severity of orthopedic deformities, cognitive functions, surgery, motivation, obesity, and age. With proper support, surgery, rehabilitation, and orthosis, many children with spina bifida can walk.
What are the Problems in Adult Spina Bifida Patients?
- Pain; is a frequent complaint. In particular, back, neck and leg pain are seen. Shoulder and elbow pains are mostly due to overuse.
- Scoliosis; It does not progress after adolescence, but can cause posture and sitting disorders, pressure sores, gait loss, respiratory dysfunction and pain
- Neurological problems; shunt obstruction may develop as a result of stretching of the spinal cord
- Pressure sores, burns result from loss of sensation
- Kidney failure