Wednesday, May 22, 2013

Spina Bifida..... What is it?????

So, I had promised a few years back to write more about Spina Bifida and what it is. Well, I'm finally getting around to it! 

Wikipedia says, is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain un-fused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through the opening in the bones. There may or may not be a fluid-filled sac surrounding the spinal cord.

Other neural tube defects include anencephaly, a condition in which the portion of the neural tube that will become the cerebrum does not close, and encephalocele, which results when other parts of the brain remain unfused.

 Spina bifida malformations fall into three categories: spina bifida occulta, spina bifida cystica with meningocele, and spina bifida cystica with myelomeningocele. Spina bifida can be surgically closed after birth, but this does not restore normal function to the affected part of the spinal cord. Spina bifida is one of the most common birth defects with a worldwide incidence of about 1 in every 1000 births.

Myelomeningocele;  This type of spina bifida often results in the most severe complications. In individuals with myelomeningocele, the un-fused portion of the spinal column allows the spinal cord to protrude through an opening. The meningeal membranes that cover the spinal cord form a sac enclosing the spinal elements.

So, now you know what the technical description is.... Andy has Myelomeningocele. It is a hole in the spine and the cord/ nerves come out the hole, and then go back in. They are damaged during pregnancy as the amniotic fluid becomes acidic to those nerves around week 25 of pregnancy. The actual opening happens  during the first month (weeks 3-4) of the pregnancy,  before most women know they are pregnant. Before I knew I was pregnant!

What causes Spina Bifida???

 Lots of different things are believed to be the cause. Medications such as some anticonvulsants, diabetes, having a relative with spina bifida, obesity, and an increased body temperature from fever or external sources such as hot tubs and electric blankets may increase the chances of delivery of a baby with a spina bifida. Research has shown the lack of folic acid (folate) is a contributing factor of neural tube defects, including spina bifida. Supplementation of the mother's diet with folate can reduce the incidence of neural tube defects by about 70%, and can also decrease the severity of these defects when they occur. The recommended amount of folic acid for women of childbearing age and women planning to become pregnant is at least 0.4 mg/day of folic acid from at least three months before conception, and continued for the first 12 weeks of pregnancy. Women who have already had a baby with spina bifida or other type of neural tube defect, or are taking anticonvulsant medication should take a higher dose of 4–5 mg/day.

Ok, so now we know what it is, how it's caused, but what problems does it create???


Physical signs of spina bifida may include:

Leg weakness and paralysis
Orthopedic abnormalities (i.e., club foot, hip dislocation, scoliosis)
Bladder and bowel control problems, including incontinence, urinary tract infections, and poor renal function, Neurogenic bladder resulting in the need for Intermittent catheterization several times a day to empty the bladder,  constipation requiring medications and sometimes surgical interventions.
Pressure sores and skin irritations
Abnormal eye movement
68% of children with spina bifida have an allergy to latex, ranging from mild to life-threatening. The common use of latex in medical facilities makes this a particularly serious concern.
The spinal cord lesion or the scarring due to surgery may result in a tethered spinal cord. In some individuals, this causes significant traction and stress on the spinal cord and can lead to a worsening of associated paralysis, scoliosis, back pain, and worsening bowel and/or bladder function.
  

Neurological complications

Many individuals with spina bifida have an associated abnormality of the cerebellum, called the Arnold Chiari II malformation. In affected individuals, the back portion of the brain is displaced from the back of the skull down into the upper neck. In about 90% of the people with myelomeningocele, hydrocephalus also occurs because the displaced cerebellum interferes with the normal flow of cerebrospinal fluid, causing an excess of the fluid to accumulate. In fact, the cerebellum also tends to be smaller in individuals with spina bifida, especially for those with higher lesion levels.The corpus callosum is abnormally developed in 70-90% of individuals with spina bifida myelomeningocele; this impacts the communication processes between the left and right brain hemispheres.
Several studies have demonstrated difficulties with executive functions in youth with spina bifida, with greater deficits observed in youth with shunted hydrocephalus. Unlike typically developing children, youths with spina bifida do not tend to improve in their executive functioning as they grow older. Specific areas of difficulty in some individuals include planning, organizing, initiating, and working memory. Problem-solving, abstraction, and visual planning may also be impaired.
Individuals with spina bifida tend to have better reading skills than mathematics skills. Children and adults with spina bifida have stronger abilities in reading accuracy than in reading comprehension. Comprehension may be especially impaired for text that requires an abstract synthesis of information rather than a more literal understanding. Individuals with spina bifida may have difficulty with writing due to deficits in fine motor control and working memory.

Social complications


 Compared to typically developing children, youths with spina bifida may have fewer friends and spend less time with peers. They may be more passive in social situations. These children have also reported feeling less close to their friends and feel they do not receive as much emotional support from their friendships. However, not all studies have found social difficulties in these youth compared with their typically developing peers.

Treatment

There is no known cure for nerve damage caused by spina bifida.To prevent further damage of the nervous tissue and to prevent infection, pediatric neurosurgeons operate to close the opening on the back. The spinal cord and its nerve roots are put back inside the spine and covered with meninges. In addition, a shunt may be surgically installed to provide a continuous drain for the excess cerebrospinal fluid produced in the brain, as happens with hydrocephalus. Shunts most commonly drain into the abdomen or chest wall. However, if spina bifida is detected during pregnancy, then open or minimally-invasive fetal surgery can be performed.
Most individuals with myelomeningocele will need periodic evaluations by a variety of specialists:
  • Physiatrists coordinate the rehabilitation efforts of different therapists and prescribe specific therapies, adaptive equipment, or medications to encourage as high of a functional performance within the community as possible.
  • Orthopedists monitor growth and development of bones, muscles, and joints.
  • Neurosurgeons perform surgeries at birth and manage complications associated with tethered cord and hydrocephalus.
  • Neurologists treat and evaluate nervous system issues, such as seizure disorders.
  • Urologists to address kidney, bladder, and bowel dysfunction - many will need to manage their urinary systems with a program of catheterization. Bowel management programs aimed at improving elimination are also designed.
  • Ophthalmologists evaluate and treat complications of the eyes.
  • Orthotists design and customize various types of assistive technology, including braces, crutches, walkers, and wheelchairs to aid in mobility. As a general rule, the higher the level of the spina bifida defect, the more severe the paralysis, but paralysis does not always occur. Thus, those with low levels may need only short leg braces, whereas those with higher levels do best with a wheelchair, and some may be able to walk unaided.
  • Physical therapists, occupational therapists, psychologists, and speech/language pathologists aid in rehabilitative therapies and increase independent living skills.

Spina bifida is one of the most common birth defects, with an average worldwide incidence of one to two cases per 1000 births, but certain populations have a significantly greater risk.
In the United States, the average incidence is 0.7 per 1000 live births. The incidence is higher on the East Coast than on the West Coast, and higher in white people (one case per 1000 live births) than in black people (0.1–0.4 case per 1000 live births). Immigrants from Ireland have a higher incidence of spina bifida than do natives. Highest rates of the defect in the USA can be found in Hispanic youth. Although, the rates are only partially accounted for because some fetuses are aborted when tests show signs of spina bifida.