Spina Bifida And Neurogenic Bladder

Guide for families of children with spina bifida and neurogenic bladder

What is spina bifida?

Spina bifida, also called split or open spine, is a disease observed in newborns and is a condition in which there is a gap or opening in the spine due to the inability of the bones forming the spine to complete their development. Spina bifida occurs in the very early stages of pregnancy, usually in the first month of life in the mother's womb, it is not a later disease. 

What is the spinal cord?

The spinal cord is a closed tube made up of nerves. These nerves transmit commands from the brain to the nerves in the muscles, allowing the muscles to move. At the same time, these nerves allow feeling. If the baby is born with spina bifida, the spinal cord and the spine and skin covering it do not close. Therefore, there is a difficulty in passing the impulses from the nerves due to the problem here. When there is no proper connection between the nerves and the brain, varying degrees of paralysis (loss or inability to move and feel) occur. In addition, due to the damage to the spinal cord, most of the patients have serious problems with urine and stool control.

Up to 90% of babies born with spina bifida have hydrocephalus, which is called "fluid collection in the brain". Hydrocephalus is an excessive increase in the fluid (CSF) that circulates regularly in the brain and spinal cord because of this disruption and causes high pressure in the cavities within the brain. Since the skull bones in babies are not fully hardened yet, the head tries to reduce this pressure by growing. However, if it is not treated in the early period, the brain will be damaged. If the development of hydrocephalus and damage to the brain can be prevented by timely treatment, the intelligence of children with spina bifida will not be different from normal. While cases where the baby's head grows excessively are easily noticed, some babies may be delayed in diagnosing hydrocephalus because there is no growth at first. For this reason, the condition of the baby should be evaluated in terms of hydrocephalus suspicion by performing MRI and computed tomography at periods deemed appropriate by the doctor.

Why does spina bifida occur?

It is thought that many unknown factors may be effective in the development of this disease. Since spina bifida is more common in some families, it is thought that spina bifida may occur due to some hereditary causes. Among the known, the most important is folic acid, which is a type of B vitamin. It is believed that this vitamin helps to close the spinal tube of the fetus during the intrauterine period. If the mother does not have enough folic acid, the baby's spinal tube may not close properly. It is known that a drug called valproic acid, which is used by the mother to prevent epileptic seizures, also causes this disease. Apart from these, elements such as alcohol and zinc are also blamed.

 What is the frequency of spina bifida in the world and in Turkey?

There are 10 million people with spina bifida in the world. In developed countries, one in every thousand children is born with spina bifida. In a study conducted in Izmir in 2000, the incidence of spina bifida was found to be 1.5 per thousand, and in another study conducted in Ankara, this rate was found to be 4 per thousand. There may be differences between regions in Turkey and this rate is likely to be higher in less developed regions of our country.

 Is it possible to prevent spina bifida?

In Turkey, many babies with spina bifida are still born without being diagnosed before birth. However, unfortunately, many families who regularly undergo pregnancy under the control of a physician and are told that their baby will be normal are also born with spina bifida. In recent studies, it has been shown that this disease can be prevented 7 times by taking folic acid before pregnancy. Today, in many developed countries, all expectant mothers start taking folic acid before they become pregnant. Because after the mother learns that she is pregnant, it is time to prevent spina bifida. In this case, to find out if the baby has spina bifida, it is necessary to check whether the baby has spina bifida or not. A blood test (AFP) and detailed ultrasound examination should be done between weeks and weeks. With these, 75-80% of the babies are diagnosed with spina bifida. The family may decide to terminate the pregnancy during this period by talking to a knowledgeable and experienced doctor.

 What foods contain folic acid?

Many foods contain folic acid. These are: citrus fruits such as oranges, tangerines, grapefruit, green vegetables such as cantaloupe, watermelon, beans, broccoli and spinach, nuts, and liver.

 What are the types of spina bifida?

The degree of severity of the disease depends on the location of the spina bifida and the number of nerves contained in the sac. Which nerves will be affected depends on the location of the opening in the back. The higher the opening in the back, the more nerves are affected and there is a more severe paralysis. For this reason, some people with spina bifida use no or few devices, while others use a wheelchair. There are roughly 3 types of spina bifida:

1. Spina bifida occulta: This is the mildest form of spina bifida. It does not give any indication. There are small defects or defects in one or more of the bones that make up the spine. The spinal cord and nerves are normal. People are generally unaware of the existence of this condition in themselves. The only symptom is excessive hair growth on the skin in the area of the defect (for example, on the waist). The diagnosis is usually made by chance during an X-ray of the spine taken for another reason.
2. Meningocele: It is the rarest form of spina bifida. The membranes surrounding the spinal cord herniate outward from the open parts of the spine. The hernia sac contains cerebrospinal fluid that surrounds and protects the brain and spinal cord. This cystic structure can be variable in size and can be surgically removed to ensure normal development.
3. Meningomyelocele: This is the most advanced form of the disease. In addition to the membranes found in the meningocele, the nerve roots and the spinal cord itself can be found inside the herniated cyst. Sometimes there is no cyst, but the spinal cord itself can herniate completely. The fluid surrounding the spinal cord can escape. Unless the opening is surgically closed, affected infants are at greater risk for infection. Despite surgical treatment, some babies may have varying degrees of leg paralysis, urinary and stool incontinence problems.

 Is surgery necessary, when is it done?

If babies with spina bifida are born with a meningomyelocele, the sac on their back is surgically closed in the first days. With this operation, the spinal cord is relieved, and it is allowed to develop regularly, and it is tried to prevent the problems that may occur in the baby's walking, urination, or defecation in the future. Some babies do not have skin on the sac on their back or waist. These babies are susceptible to infection because the sac remains open. For this reason, the baby is prevented from getting an infection by operating at an earlier period. In the meantime, whether the surgical treatment of foot, hip and skeletal defects accompanying spina bifida can be performed in the same session is another issue that should be kept in mind. For those who develop hydrocephalus, a shunt is placed to drain excess fluid from the brain into the bloodstream.

What is a shunt?

The shunt is an operation that allows the cerebrospinal fluid (CSF) accumulated due to blocked pathways in the brain to rejoin the blood flow. The shunt assembly consists of a tube system and a cap that regulates the drainage rate of the fluid and prevents the backflow of the drained fluid. It is surgically placed with the upper end in a ventricle in the brain and the lower end in the abdominal cavity. The shunt is placed in such a way that all parts remain inside the body. In this way, it is not seen from the outside and is protected from external influences. CSF, which is discharged into the abdominal cavity, joins the blood stream from here. Complications usually occur when there is a blockage somewhere in the drainage system. Sometimes, a new surgery may be required because of the shunt inserted in the child at a young age becomes short with the growth of the child over the years.

Can these children fully recover after treatment?

It is tried to make the lives of these patients as close to normal as possible with surgeries or some treatment methods. Although they may not become completely healthy, it is possible for them to live independently. However, this depends largely on the removal of obstacles in social life, as well as medical support. With physical therapy approaches, it is aimed to increase muscle strength, to prevent deterioration in the joint, to increase the child's independence, to increase the quality of life of the child and the family, to ensure standing and walking with the use of device approaches and walking aids, and the treatment of bowel and bladder problems is especially emphasized. Of course, the involvement of the family in the treatment process is of great importance.

 What is the bladder and what does it do?

The urinary bladder is an organ that is composed entirely of muscle tissue and serves to store urine. There is another structure called the sphincter at the exit of the urinary bladder. In the absence of any disorder, the urine formed in the kidneys reaches the bladder through pipes called ureters. The bladder can expand as urine accumulates in it. Thus, it stores the urine within its capacity without increasing the internal pressure. The capacity of the urinary bladder increases with age. During the time that urine is stored, the sphincter muscle remains contracted, preventing urinary incontinence. When the need to urinate and the environment to urinate is provided, the sphincter muscle relaxes and opens the way. Immediately afterwards, the bladder muscle begins to contract and pumps urine out until it is completely empty. When the urine is completely emptied, the bladder muscle relaxes and enters the storage position. The sphincter, on the other hand, starts to work to prevent urinary incontinence again by contracting. It is very important that the bladder muscle and sphincter muscle work in harmony in the storage and discharge of urine. For a normal urination, the structure consisting of the brain, brain stem, spinal cord, bladder, and sphincter must be robust and work harmoniously.

 What is neurogenic bladder?

Nerves controlling the bladder exit from the waist. These nerves may be affected due to the sac in this region, or the surgeries performed in this region. When the nerves that control the functioning of the urinary bladder and the last part of the large intestine are affected, urinary bladder dysfunction occurs, which we call 'neurogenic bladder', due to a nervous system disorder. Approximately 95% of children with meningomyelocele have dysfunction of the bladder and sphincter. The bladder cannot be fully emptied because of abnormal sphincter functioning. When urinating, the pressure inside the bladder may become too high or it may not be possible to hold the urine. The form and severity of bladder dysfunction can vary widely. No two children with meningomyelocele have a bladder disorder exactly alike. Therefore, no child's treatment is the same as another.

 What is the importance of neurogenic bladder?

If the bladder cannot completely empty the urine in it, the infection of the residual urine remaining inside becomes easier. Therefore, urinary tract infection is common in children with neurogenic bladder. Keeping the bladder full makes it difficult to pass urine from the kidneys to the bladder, causing the ureters and the collecting system in the kidney to expand and the kidneys to malfunction. Storing urine with high pressure or urinating with high pressure causes urine to flow back from the bladder to the kidneys, called vesicoureteral reflux (VUR). Therefore, VUR is more common in children with neurogenic bladder. When urinary tract infection and reflux come together, the infected urine reaches the kidneys and causes kidney infection called pyelonephritis. If damage to the kidneys by reflux and inflammation is not prevented, high blood pressure or kidney failure may develop in the following years. As a result, if the disorder that starts in the bladder is not brought under control with appropriate treatment in time, it can go to the extent that the kidneys are seriously affected and lose their function. It should not be forgotten that this is one of the most vital problems that children with spina bifida can experience.

 How should children with neurogenic bladder be followed?

These children should be followed up by pediatric urology immediately after surgery in neurosurgery. Bladder functions should be evaluated with videourodynamic studies, clean intermittent catheterization (CIC) should be started if necessary, and anticholinergic drugs should be added. In this way, both the pressure in the bladder decreases, if it is done appropriately, the infection decreases, and the kidneys can be protected since they are not exposed to the reflux of urine. In this type of children, intestinal problems are also common, and constipation and stool incontinence can be found together. Their treatment is also an integral part of bladder-related problems.

 What are the surgeries for neurogenic bladder?

In patients with uncontrolled bladder pressure and small bladder capacity, bladder augmentation surgeries (augmentation) or surgeries to reduce urinary incontinence (bladder neck reconstruction or suspension surgeries) can be applied. I have been performing a wide variety of surgical operations on this subject for many years.

 How is bladder augmentation surgery performed?

Before the surgery, bowel cleansing is done with enema and antibiotic treatment is started. General anesthesia is used in the operation. The abdomen is reached with an incision made from the midline up to the umbilical level. After the bladder is freed from the surrounding tissues, it is opened by cutting from front to back. A 20-30 cm piece taken from the small intestine, called the ileum, is cut on itself and sewn into the opened bladder.

If the external urinary canal, called the urethra, is not suitable or sufficient to urinate, alternative ways can be tried. One of them is to open a new urinary canal by using the organ called appendix. Here, a catheterizable path is created by connecting the appendix to the bladder and the other end to the skin, using a technique that will not leak urine.

There are some risks/complications that this surgery carries. These are reported between 3% and 30%. These; bleeding that may cause blood transfusion, trauma to the small or large intestine during the surgery, prolonged urine discharge in the postoperative period, delay, or obstruction in the return of bowel movements in the early postoperative period, leakage from the bowel joining line, urinary incontinence from the external urinary tract or the part that is mouthed to the skin, stone formation in the bladder can be considered in the long-term after surgery.

What are the alternative methods?

Autoaugmentation; It is an operation that provides capacity increase and pressure drop by creating a large pocket in the bladder by cutting the muscle layer of the bladder while preserving the inner mucosa layer. However, it is not a highly recommended operation technique today.

Seromuscular enterocystoplasty; this technique can be performed in appropriate cases. In this method, the innermost layer of the urinary bladder is left in place, and the intestinal layer, which is taken from the intestine and the innermost layer is peeled off, is closed. Our studies and experiences with this technique, which is a very special operation, have been published in various journals around the world.

I successfully apply all the operations described on this subject in the world to my patients. I even successfully performed the first pediatric augmentation cystoplasty operation in Europe using robotic systems, and the world's first robotic ureterocystoplasty operation in a 12-year-old girl with both kidneys functioning.

What are the issues that patients should pay attention to after the operation?

If no complications develop after the surgery, your catheters and drains will be removed, and you will be discharged from the hospital after making sure that you have performed clean intermittent catheterization (CIC) without any problems. Your control times will be notified to you by your doctor.

After the surgery, it is necessary to wash the bladder every 2-3 days. Since a piece of bowel is added to the bladder, this piece has a slimy discharge. In young children, since the catheter is very thin, this dense liquid can block the catheter and prevent the bladder from emptying during the CIC procedure. As time passes, this slimy liquid formed by the intestinal part decreases and stops after 1 year.

What is the purpose of follow-up?

Children with spina bifida must be under the constant control of neurosurgery, urology/pediatric urology, physical therapy, nephrology, and orthopedic specialists. Periodic checks should not be interrupted. Kidneys are normal in 90% of children with neurogenic bladder at birth. However, if treatment is not carried out by urological control, sooner or later, 50% of these children will develop kidney damage. Nephrology and urology follow-up is as important as neurosurgery examination and treatment in the days following birth for children with neurogenic bladder due to meningomyelocele to protect their lives and lead a quality life. The aim of nephrological-urological examination and treatment is primarily to protect the kidneys. After this is achieved and the child has a healthy first year, it is time to prevent urinary incontinence. When children with neurogenic bladder approach primary school age, the things to be done for their treatment should be completed to a large extent and they should be kept dry so that they do not need to use diapers.

What is clean intermittent catheterization (ICC)?

In patients who cannot urinate, the bladder is emptied by entering a catheter through the urethra. CIC is applied to provide a dry bottom and to prevent kidneys from being affected by VUR. You will be trained by your doctor on how to apply CIC. Children's active participation in CIC should be ensured over time. CIC is recommended 4 to 6 times a day, depending on the function and capacity of the bladder. The interval between two catheterizations at night should not exceed 8 hours. In some children who have bladder augmentation surgery, a second urinary tract is opened from an area close to the umbilicus. CIC is done here. This second urinary tract is asked to the relatives of the patients before the surgery. It is done if the patient or patient's relative wishes. Otherwise, CIC can be done in the normal way.

After the children start school, one application can be made before sending the child to school, and a second application can be made during the lunch break, but it should not be forgotten that most schools do not have a suitable physical environment for nurses and CIC. At this point, it may come to the fore to allocate a suitable room for this process from the school administration. CIC hours should be decided together by parents, teachers, school administrators, if any, health personnel and should be linked to a calendar. In order not to interrupt the lessons, breaks or lunch breaks should be evaluated.

What is the role of the family in the prevention of urinary tract infections?

The bottom of the child should be checked frequently to prevent it from being wet. Especially girls are more prone to infection. Therefore, good personal hygiene should be applied in them. Toilet cleaning should be done from front to back in these children. A hygienic environment should be provided during CIC, and it should be done on time and carefully. Drinking plenty of fluids should become a habit to help flush bacteria out of the urinary tract. The child should be encouraged to empty their bladder frequently.

What is a latex allergy and why is it common in this group of children?

Latex allergy is more common in children with spina bifida than in other children and can seriously threaten your child's life. If your child has an itchy and runny nose, itchy and watery eyes, a rash and red patch on the skin, swollen lips or tongue, and breathing problems, he or she is likely to have a latex allergy. Latex allergy testing can be done by giving a blood sample or on the skin. Whenever possible, do not keep latex-containing products in the environment where your child is present. When prescribing for CIC or other routine treatments, warn your doctor about latex-free probes, syringes, and gloves. If there is a latex allergy, it would be appropriate to wear a wristband that reads “the child has a latex allergy” on the child's wrist in order not to risk the job in hospital environments. In addition, your child's friends, caregivers, teachers, teachers, trainers, nurses, other family elders and other people with whom he can communicate should be informed and warned about latex allergy.