Spina Bifida Explained
Spina bifida comes from the word for ‘split spine’ in Latin. It is one of a class of serious birth defects, called neural tube defects (NTDs), which involve damage to the bony spine and the nervous tissue of the spinal cord. Some vertebrae of the spine don’t close properly during development and the spinal cord’s nerves don’t develop normally. They are exposed and can be subjected to further damage. At birth, they protrude through the gap instead of growing normally down the bony spinal column.
Nerve signals to most parts of the body located below the level of the ‘split spine’ are damaged and a wide range of muscles, organs and bodily functions are affected.
The other main type of neural tube defect is anencephaly, in which the brain and skull don’t develop properly. All babies with anencephaly will either be stillborn or die soon after birth.
People are affected by spina bifida (SB) in a variety of ways, ranging from minor to severe:
* Legs and feet – a range of walking difficulties (through to an inability to walk), reduced sensation, proneness to burns and pressure sores.
* Bowel and bladder – some level of urinary and faecal incontinence, increased stress on the kidneys, some level of sexual dysfunction.
* Brain – in most cases, the baby has hydrocephalus (a build-up of cerebrospinal fluid in the brain) and the Arnold Chiari malformation (the brain stem physically ‘jams into’ the spinal cord). These abnormalities may cause many different brain function disabilities.
One in 1,000 pregnancies are affected
The risk of spina bifida is approximately one in every 1,000 pregnancies. It is caused by a combination of genetic and environmental factors, which are not yet fully understood. Inadequate intake of folate by the mother in early pregnancy is a significant factor in the occurrence of this condition. The number of babies born with spina bifida has dropped dramatically in recent years, due to improved ultrasounds and other tests, which detect the condition and provide the choice of pregnancy termination.
There is no cure. However, the vitamin folate can prevent up to 70 per cent of spina bifida cases, if taken daily one month before conception and daily during the first three months of pregnancy. Some people are at high risk for having a child with spina bifida or other neural tube defect. To check whether you are in this group, please see The importance of folate below.
Well over 90 per cent of cases of spina bifida should be detected with a good quality ultrasound at 18 weeks. If present, specialist gynaecological care occurs until birth. If first detected at birth, there will be a large soft lump or lesion on the back. This lump contains spinal cord nerves and tissue. Exposed nerves must be surgically placed gently back under the skin within 24 hours.
The neural tube
The nervous system of a growing foetus starts as a simple structure called the neural plate. This plate quickly becomes the baby’s brain, and the spinal cord and neural tube that enclose it. By Day 28, the neural tube should have closed and fused. If it doesn’t close, the result is a neural tube defect.
Spina bifida can occur at any place along the spine. However, surviving babies are generally affected lower down the spine because, at higher levels, the survival rate is low. The exact cause is not completely understood, but it appears that a combination of genetic and environmental factors is responsible. Inadequate metabolism of folate in early pregnancy is an important cause.
The brain and spinal cord are bathed in, and nourished by, cerebrospinal fluid. Most people with spina bifida experience a build-up of this fluid inside the skull, caused by the Arnold Chiari malformation. This must be managed early with a shunt, or brain damage will occur when the baby’s head can no longer get bigger, after the skull bones have fused.
Complications of spina bifida
The effects of spina bifida vary according to the type, location and severity of the condition. Generally, defects higher on the spine produce a greater risk of paralysis and other debilitating complications. Problems associated with spina bifida typically include:
* Reduced sensation in the lower body, legs and feet.
* A degree of paralysis of the lower body and legs.
* Degrees and types of urinary incontinence.
* Degrees and types of faecal bowel incontinence.
* Some sexual dysfunction, particularly for men where penile erection and normal ejaculation are affected.
* Learning difficulties.
* Abnormal joints.
* Deformities of the spine – commonly scoliosis, where the spine bends into an ‘S’ shape.
* Cord tethering, where the spinal cord ‘sticks’ to the area of the original lesion and becomes stretched.
Spina bifida can be diagnosed using a number of tests, including:
* Ultrasound – usually at 18 weeks
* Alpha-fetoprotein (AFP) testing
* Magnetic resonance imaging (MRI) scans
* Computerised tomography (CT) scans.
There is no cure for spina bifida. Treatment options include:
* Surgery – may be used to close the lesion and reduce the risk of infection.
* Shunt – hydrocephalus is treated with the insertion of a tube, called a shunt, into the ventricles in the brain where the spinal fluid is produced. The shunt has a one-way valve on the skull, under the skin behind an ear. This allows the excess cerebrospinal fluid to drain out of the brain via another tube into the abdomen or the heart.
* Orthopaedic surgery – children with spina bifida usually have a number of leg and feet operations to improve their mobility.
* Aids – walking aids or wheelchairs are commonly used.
* Diet and enemas – are used to manage faecal incontinence.
* Bladder surgery – this is common to increase bladder size and tighten muscles.
* Self-catheterisation and continence pads – may be required to manage urinary incontinence. Sometimes faecal or urinary bags are required.
* General measures – regular monitoring of kidney, bladder, shunt and spine functions is required.
Things to remember
* Spina bifida refers to a range of birth defects that affect the spinal cord.
* In spina bifida, some vertebrae of the spine aren’t closed, leaving the spinal cord nerves exposed and damaged.
* The recommended dose of folate, taken daily one month before conception and during the first three months of pregnancy, will greatly reduce your chances of having a child with a neural tube defect (NTD).
Thanks Holly for posting such good information about spina Bifida,in all my search for informaiton about the Spina Bifida yours is the first posting which says that it could be genetical,infact my great grand mother had the same condition,however never in her entire life span did she faced any problem and she died at the age of 90.I have inherited her genes and been suffering from Spina Bifida,in my case it was been diagonsed when i was 23 yrs till then my family passed it off as birth mark,i am working right now,and facing Urine incontinence and frequet attacks of Urine infection,Is there any surgical procedures known to you which would help me.
First let me say WELCOME TO SBC! You are officially our first member!!
I am happy to hear that the post helped you!! I am sorry but I don't know of any surgical procedures. Our board owner, Barb, might know something I don't though. She is away at the moment but I am sure she will address your question as soon as she returns!
,Actually there is immense need of such sites and forums to encourage awareness among the people about spina bifida,why i say so that in my case till the age of 23yrs i had this dimple formation on my lower back and my parents or neither did i pay any attention to it,thinking it to be a mere birth mark,had i been treated at my childhood, my life would have been different,however i am still better off than the cases that i have seen on the various sites,atleast i am not a wheel chair,so i am counting my blessings.
My grandmother was one to ALWAYS remind me, No matter how bad your life is, it is never as bad as it could be I am a firm believer in that!
Originally Posted by Renuka
Welcome. Spina Bifida Occulta must be difficult to deal with in the sense that it is not obvious from birth and it can cause so many issues without you knowing what the real cause is. I hope that you meet some other adults on this site that have been diagnosed with spina bifida occulta! We used to have a section that was specific to occulta and one for adults only. If that is something that the members here are interested in, we can always reopen it!
Originally Posted by Renuka
I find it really hard some days but some other days i completly forget i have this disability and i just get on with life. It's hard for me to except some of my limitations but thank god i go to a great school that are so great with me
Yes you are right,i used to have such a fast paced life till I was diagonsed with this condition and the surgery changed my life completely, it costed me my marriage,Thankfully I have extremly supportive family and collegues,As rightly said by Lauren,Sometimes i find it hard to survive,at times I forget that Ihave such condition.
My 20mth baby boy is being tested for spina bifida at the moment he had an xray yesturday and it showed that he didnt have any obvious spina bifida, though now they want to scan his back.
Originally Posted by Holly
i have researched online about the different types of sb, and i think that my baby is suffering the occulta version.
the reason for this is he has a 2cmx 3cm birthmark on his lower arch of his back, it has hairs growing from it and a small larger than a pin prick hole on it too.
my son has walked since he was 10 mths, but still is unstable on his legs, very clumsy and cannot walk for long before he starts to collapse if you like. i also think he is a sufferer of adhd, (i have 2 other children with adhd, and recognize the signs he portrays), he has a size 4.5 shoe but i cannot fit any smaller than a size 7 on his feet, he has numerous allergies to food and is atopic for exzma.
now even though all these symptoms may be unrelated and his tests may come back negative, i can help but panicand seek reassurance for the most extreme.
what i would like to know, is from the symptoms i have described, what is the likeyhood that he is a sufferer, and if so what can i do to help and make things easier for him. i know there is nomedical treatment reqired for an occulta sufferer, but is there anything at home i can do to help?
please can anyone advise me?