The condition is mostly diagnosed at birth when there is a protrusion of meninges and natural elements on the back of the child through a defect in the spinal column. It can also be diagnosed in utero.

Infants with spina bifida can however present with lethargy, irritability, poor feeding, stridor and delay in reaching developmental milestones. Bigger children may present with cognitive changes, behavioral changes, weakness, back pain, change in bowel habit, bladder dysfunction, increased spasticity, and worsening spinal and lower orthopedic deformities.

Children with a more severe form, the Chiari type II malformation, may experience nystagmus, difficulty in swallowing, apnea, laryngeal and pharyngeal paralysis and weakness of the upper extremities. Physical examination would reveal some degree of motor and sensory loss. There would also be spinal and lower extremity deformities like lumbar lordosis, equinus contracture of the ankle, and genu valgus deformity amongst others [6].

• Disability

  This type of spina bifida usually does not cause any disabilities. Diagnosis Spina bifida can be diagnosed during pregnancy or after the baby is born. [cdc.gov]

  The one most likely to present with physical disability is spina bifida cystisa. [sess.ie]

  People with myelomeningocele have physical disabilities that range from moderate to severe. [healthline.com]

  The spectrum of disability ranges from mild to severe. [thesbrn.org]

  Mazzocco, Mathematical learning disabilities in special populations: Phenotypic variation and cross‐disorder comparisons, Developmental Disabilities Research Reviews, 15, 1, (80-89), (2009). [doi.org]

• Weakness

  Postsurgery, the patient showed significant amount of pain relief and improvement in weakness in the left lower limb. [ncbi.nlm.nih.gov]

  Symptoms can include bladder and bowel problems, muscle weakness, hunched back, nerve injury and even paralysis which is the loss of function of the lower spine and can eventually lead to loss of movement in the legs and feet. [advocatechildrenshospital.com]

  However, a small number of people with more extensive spina bifida occulta may have some of the following symptoms: Foot deformity Leg weakness, numbness, or clumsiness Bladder or bowel dysfunction Hand weakness or numbness These symptoms can be the result [columbiaspine.org]

  That stretching can cause nerve damage and neurological problems, including: back pain weakness in the legs and arms problems controlling the bladder and bowels Experts aren’t exactly sure what causes any of the forms of spina bifida, including SBO. [healthline.com]

  The damage to the spinal cord can lead to bladder and bowel control problems; leg weakness and paralysis; and scoliosis (a sideways curvature of the spine). [scoliosissos.com]

• Pain

  When symptoms occur, they generally include: back pain leg weakness pain in the back of the legs loss of bladder or bowel control scoliosis, or a curving of the spine numbness in the back or legs misshapen legs and feet Sometimes there are visible signs [healthline.com]

  […] or leg pain bladder or bowel problems tethered spinal cord kidney infections or kidney damage For 150 years, families have come from around the corner and across the world, looking to Boston Children's for answers. [childrenshospital.org]

  Postsurgery, the patient showed significant amount of pain relief and improvement in weakness in the left lower limb. [ncbi.nlm.nih.gov]

  Lumbosacral plain radiographs of 881 young male patients with low back pain lasting for >4 weeks were evaluated. For all patients, we recorded the clinical signs and their pain intensities based on a 10-cm visual analog scale (VAS). Results. [doi.org]

• Surgical Procedure

  The different surgical procedures consist of spinal surgery, spinal fusion, colostomy and caesarean section. After surgery, your child will be fitted with a back brace. Make an Appointment We offer quick access to our expert spine team. [advocatechildrenshospital.com]

  Researchers from Leiden University and Erasmus medical centers recently received the prestigious €50,000 Open Mind grant from science and tech foundation STW to continue developing their early term surgical procedure to prevent spina bifida. [3dprint.com]

  This surgical procedure is necessary to help drain the fluid. With the new technology and medical treatments, they are now able to live a normal life span. The good thing is that their condition does not best define who they really are. [sbkc.org]

  Surgical procedures vary greatly from case to case, but all are aimed at improving function and independence as much as possible. This may include surgery to foster mobility or a procedure to address a secondary condition that's hindering function. [shrinerschildrens.org]

  Progressive hydrocephalus can be treated with the surgical procedure known as a shunt. [medbroadcast.com]

• Swelling

  Sometimes there is a hairy patch, dimple, dark spot, or swelling on the infant’s back, at the site of the gap in the spine. A doctor can examine the infant’s spine and bones in the back using an image scan such as an X-ray, MRI, or CT. [web.archive.org]

  Sometimes there is a hairy patch, dimple, dark spot, or swelling on the infant’s back, at the site of the gap in the spine. A doctor can examine the infant’s spine and bones in the back using an image scan such as an X-ray, MRI, or CT. BACK TO TOP [nichd.nih.gov]

  In babies, the head usually enlarges to accommodate the swelling, but in children and adults this is not possible as a result of the formed skull. The pressure of the swelling on the brain can lead to brain damage if not treated. [rockybay.org.au]

• Constipation

  Confidential assessments included (i) Fecal Incontinence Quality Of Life (FIQOL), (ii) St Marks Faecal Incontinence score, (iii) Cleveland Clinic Constipation score and (iv) Neurogenic Bowel Dysfunction score. [ncbi.nlm.nih.gov]

  A mix of all types is best to help avoid constipation. However, inadequate fluid intakes will make constipation worse as the fibre becomes hard and dry and immovable in the bowel. [indi.ie]

  Related Links Pressure Injuries Birth Defects Testing Scoliosis in Children and Teens Constipation, Age 11 and Younger Constipation, Age 12 and Older Congenital Hydrocephalus <cipublic-spinner variant="large"><span>Loading…</span></cipublic-spinner> [cigna.com]

  Further treatment may be required if these techniques do not prevent episodes of constipation, diarrhoea or soiling. Medication There are several different medicines that can be used to treat the symptoms of constipation and diarrhoea. [hse.ie]

• Hip Dislocation

  CONCLUSION: The development of hip dislocation and progression are not solely connected with muscle imbalance. [ncbi.nlm.nih.gov]

  Associated health problems can include: hydrocephalus impaired cognitive development and learning disabilities Chiari malformation (type II) orthopedic (bone) problems, such as scoliosis, kyphosis, hip dislocation, joint deformities and clubfoot nervous [childrenshospital.org]

  dislocations Repair and closure of lesions on the back Treatment for hydrocephalus (excessive fluid in the brain) We've put together a multidisciplinary team of experts to provide the best care possible for our patients, in one location. [childrensnational.org]

  dislocation Joint deformities Clubfeet Contracted muscles Weaker than normal bones and muscles Other Impacts of Spina Bifida Description Skin breakdown or ulcers School difficulties Reduced sexual function Reduced fertility (typically in males) Best [dukehealth.org]

• Muscle Weakness

  Symptoms can include bladder and bowel problems, muscle weakness, hunched back, nerve injury and even paralysis which is the loss of function of the lower spine and can eventually lead to loss of movement in the legs and feet. [advocatechildrenshospital.com]

  A child with this finding on an X-ray is expected to have no physical limitations, muscle weakness or increased risk of developing progressive spinal pathology. [hopkinsmedicine.org]

  The infant should be monitored for the development of scoliosis, abnormal fractures, muscle weakness or spasm or pressure sores as he or she grows up to prevent further deformities. [cedars-sinai.edu]

  Muscle weakness in the baby’s feet, hips, and legs A dimple or patch of hair in a certain spot on the baby’s back. This may suspicion. Muscle weakness and hydrocephalus provide better clues. What causes spina bifida? Exact causes are unknown. [familydoctor.org]

  The defect may result in loss of sensation and major muscle weakness in the lower portion of the body. The degree of paralysis depends on which section of the spinal cord is involved. [mychildwithoutlimits.org]

• Joint Deformity

  Associated health problems can include: hydrocephalus impaired cognitive development and learning disabilities Chiari malformation (type II) orthopedic (bone) problems, such as scoliosis, kyphosis, hip dislocation, joint deformities and clubfoot nervous [childrenshospital.org]

  Bone and joint deformities and spinal curvature These are common and may require splints or surgery. Educational problems Most children with spina bifida have learning difficulties. [novita.org.au]

  Treatment with physical therapy as well as orthopedic devices such as orthoses can be helpful in order to counteract joint deformations associated with spina bifida. [ottobockus.com]

  Therapy including physiotherapy and orthopaedic devices such as orthoses can be helpful in counteracting joint deformations as a consequence of spina bifida. [ottobock.com]

• Leg Pain

  […] or feet, back pain or leg pain bladder or bowel problems tethered spinal cord kidney infections or kidney damage For 150 years, families have come from around the corner and across the world, looking to Boston Children's for answers. [childrenshospital.org]

  worsened by activity and relieved with rest Leg pain, especially in the back of legs Leg numbness or tingling Changes in leg strength Deterioration in gait Progressive or repeated muscle contractions Leg deformities Spine tenderness Scoliosis (curvature [web.archive.org]

  Some of these are: Foot deformity Weakness in the legs Reduced feeling or numbness in the legs or feet Back or leg pain Bladder infections Bladder incontinence Constipation Scoliosis or other orthopaedic deformities. [mydr.com.au]

• Joint Dislocation

  Imbalanced muscle forces can lead to spinal deformity, limb contractures and joint dislocations. Arnold-Chiari II malformation may present with stridor or apnoea. Impaired cerebellar function can affect balance, co-ordination and walking. [patient.info]

• Ulcer

  […] of Marjolin's ulcers, and save lives. [ncbi.nlm.nih.gov]

  This may lead to problems with pressure ulcers and burns, followed by infection. Hydrocephalus About 80% – 90% of children with myelomeningocele have hydrocephalus, which is a build up of fluid in the brain. [novita.org.au]

• Blister

  They can't feel when they get a blister or sore. Sores or blisters can turn into deep wounds or foot infections that are hard to treat. Children with myelomeningocele have a higher risk of wound problems in casts. Latex allergy. [mayoclinic.org]

  […] problems Breathing and swallowing problems Curved spine (scoliosis) Deformities in muscles, bones, and/or joints Fluid retention in the brain (hydrocephalus) Infection of tissues surrounding the brain (meningitis) Muscle weakness Paralysis Sores and blisters [columbiasurgery.org]

  Check his skin often for redness or blisters. Avoid all products that contain latex: Your child may become allergic to latex if he has spina bifida. Avoid latex to prevent an allergic reaction. [drugs.com]

• Urinary Incontinence

  Treating urinary incontinence Treating your child's symptoms of urinary incontinence is an important way of boosting their self-esteem and helping them to develop more independence. [hse.ie]

  The patient had a complicated clinical course and suffered recurrent urinary tract infections, renal calculi, and urinary incontinence and was managed with intermittent as well as indwelling catheterization. [ncbi.nlm.nih.gov]

  In many cases, there are no symptoms; however, in some, there is partial paralysis and bowel and urinary incontinence. [medicalnewstoday.com]

• Urinary Retention

  Bowel and bladder problems, including urinary retention, constipation and incontinence. Loss of feeling below the area of the lesion, especially in babies born with a meningocele or myelomeningocele. Inability to move the lower legs (paralysis). [choc.org]

  Bladder Function As a result of spina bifida, bladder function can be neurogenic (issues with nerve control), with urinary retention, incomplete emptying or a combination. [christopherreeve.org]

• Meningism

  All types of spina bifida cause an opening in the spine's bones: Spina bifida occulta: This is a gap in the bones in the spine but the spinal cord and meninges do not push through it. [kidshealth.org]

  In theory, because the spinal cord and meninges are not involved in any way, this form of spina bifida should cause no problems. [mydr.com.au]

  The spinal cord and meninges remain in place and skin usually covers the defect. Meningoceles, a condition where the meninges protrude from the spinal defect. The spinal cord remains in place. [nlm.nih.gov]

  Babies that are born with meningocele or myelomeningocele are at risk of developing meningitis, an infection of the lining of the brain and spinal cord. [medbroadcast.com]

  Only the bone is affected and the spinal cord and meninges are unaffected. [msdmanuals.com]

• Headache

  Postoperatively, the patient developed intermittent episodes of hypertension, bradycardia, headaches, altered mental status, severe perspiration, and red flushing of the upper torso, face, and arms. [ncbi.nlm.nih.gov]

  Symptoms of shunt malfunction can vary from person to person but the most common are: Headaches Vomiting Unusual irritability Excessive sleepiness Neck pain Increased head size (infants) Bowel management issues Cecostomy Constipation Urological management [chkd.org]

  Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands. Some individuals also have severe arm and neck pain. [web.archive.org]

  For example, a neurosurgeon and orthopedic surgeon may arrange to perform a combined surgery in order to avoid multiple procedures, or a neurosurgeon and neurologist may work together to manage headaches. [dukehealth.org]

  […] brain, spinal cord, or nerve problem Sacral dysgenesis (abnormality of the lower spine) Tethered spinal cord syndromes Your child will receive expert care for disorders that may result from spina bifida, including: Coordination problems or weakness Headaches [childrens.wvumedicine.org]

• Quadriplegia

  Others have lifelong disability, including inability to control their bowel or bladder, paraplegia (little or no ability to move the legs) or quadriplegia (little or no ability to move the arms and legs). [chw.org]

• Paresis

  Progressive paresis in myelodysplasia. J Neurosurg. Oct 1975;43(4):457-63. [Medline]. Hoffer MM, Feiwell E, Perry R, et al. Functional ambulation in patients with myelomeningocele. J Bone Joint Surg Am. Jan 1973;55(1):137-48. [Medline]. Holmes LB. [web.archive.org]

Laboratory

• Alpha feto-protein can be tested through maternal blood and amniocentesis and an elevated level is highly suspicious of spina bifida.
• Urinalysis
• Urine culture
• Serum urea nitrogen creatinine [7]

Imaging

• Fetal ultrasonography is increasingly being used for prenatal diagnosis and suspicion of the condition.
• CT scan
• MRI
• Plain x-ray of the vertebrae

Other tests like psychometric assessment and gait analysis should be carried out.

The management of spina bifida requires a multidisciplinary approach by a team of well trained professionals and specialists as patients with this condition face difficult and diverse challenges along the way.

The initial standard care requires the use of antibiotics, as well as closure of the sac and placement of ventriculoperitoneal shunt. If the sac is irreparable, or if there is an active CNS infection or any immediate life threatening condition, supportive management alone may be instituted [8].

Surgery is performed immediately after birth if there is evidence of CSF leakage. If there is no leakage, it may be delayed a little but ideally not more than 48 hours.
Treatment and long term management approach involve bladder management, bowel management, bracing and orthotics, recreational therapy, physical therapy and occupational therapy [9].

Children who have the lesions at lower anatomic levels tend to have a more favorable prognosis. Also, many children survive if they are managed early and the lesion closed during the neonatal period.

Children with spina bifida manifest a number of complications including neurologic and urologic complications as well as skin ulcers. Individuals who have this condition can have some problems with cognitive function, continence, ambulation, general daily activities, and all-round quality of life. How well the children cope is dependent on the level of the lesion. The lower the lesion, the better the performance. Untreated infants have a mortality rate of over 90%. Survival generally depends on the level and severity of the lesion as well as cooccurring congenital anomalies [5].

The cause of spina bifida in most cases is attributed to more than one factor. It usually involves an interplay between genetic, environmental, and racial factors. Also chromosomal abnormalities, teratogens and cytoplasmic factors have also been suggested as possible causes. Only few cases can be linked to a particular causative factor. The most important factor that leads to this condition might however be nutritional and that is the deficiency of folic acid, as over 50% of spina bifida cases are linked with folic acid deficiency [2]. Other risk factors are diabetes mellitus, febrile illness in pregnancy, maternal obesity, antiepileptic drugs and ovulation inducers.

The incidence of spina bifida is around 0.1% of the general population. They are the second commonest type of congenital anomalies. The incidence has been on a steady reduction and this is due to the increased awareness of the benefits of folic acid in pregnancy.

It occurs more in Caucasians and Hispanics than in blacks. More female babies are affected by this condition than male babies [3].

The neural tube starts to form in the third week of gestational life, before most women even know they are pregnant. Failure of the tube to close at any point leads to a form of spina bifida.

Myelomeningocele (the most severe form) happens when the caudal end of the neural tube does not fuse, causing an open lesion that contains nerve roots, spinal cord, meninges, vertebral bodies and skin. The level of the lesion determines the sensory, motor and neurological deficits that the patient suffers [4].

Women of child bearing age should be placed on folic acid supplementation to reduce the risk of folic acid deficiency. Also with advent of prenatal diagnosis through amniocentesis and fetal ultrasound, there is an option for early pregnancy termination.

Spina bifida is a treatable condition that results from a defect in the neural tube during embryogenesis. It is one the commonest congenital malformations and there are different types including spina bifida occulta, spina bifida cystica (myelomeningocele), syringomeningocele, syringomyelocele and syringomyelia [1].

Definition

Spina bifida is a condition that results from incomplete closure of the spine causing some parts of the spinal cord and its coverings to protrude through it. It occurs during the formation of the baby in the womb.

Cause

The cause still remains entirely unclear, but scientist have stipulated that a lot of factors like environmental factors, hereditary factors and nutritional factors all have a hand in causing spina bifida. Folic acid deficiency has however been implicated in over half of the cases.

Sign and symptoms

Symptoms depend on the severity if the condition. It ranges from no symptoms in the mild forms to symptoms like loss of feeling and movement in the legs, poor bladder control, poor bowel habit, hydrocephalus, scoliosis, eye problems and cognitive disorders in the more severe forms [10].

Diagnosis

It can be diagnosed during pregnancy with ultrasound and blood tests. If these tests are highly suggestive, a sample of the amniotic fluid will be tested to confirm the diagnosis. After birth, a wide range of laboratory and imaging tests will be required to know the extent of the disease.

Treatment

The mild forms do not require treatment. The most severe forms usually require surgery and this is done immediately after the baby is born. Most importantly, a child with spina bifida will require long term management by different specialist and professionals.

1. Thompson DN. Postnatal management and outcome for neural tube defects including spina bifida and encephalocoeles. Prenat Diagn. Apr 2009;29(4):412-9.
2. Wu YW, Croen LA, Henning L, et al. Potential association between infertility and spinal neural tube defects in offspring. Birth Defects Res A Clin Mol Teratol. Oct 2006;76(10):718-22.
3. Mulinare J, Cordero JF, Erickson JD, Berry RJ. Periconceptional use of multivitamins and the occurrence of neural tube defects. JAMA. Dec 2 1988;260(21):3141-5.
4. Canfield MA, Marengo L, Ramadhani TA, Suarez L, Brender JD, Scheuerle A. The prevalence and predictors of anencephaly and spina bifida in Texas. Paediatr Perinat Epidemiol. Jan 2009;23(1):41-50.
5. Danzer E, Gerdes M, Bebbington MW, et al. Lower extremity neuromotor function and short-term ambulatory potential following in utero myelomeningocele surgery. Fetal Diagn Ther. 2009;25(1):47-53.
6. Hoffer MM, Feiwell E, Perry R, Perry J, Bonnett C. Functional ambulation in patients with myelomeningocele. J Bone Joint Surg Am. Jan 1973;55(1):137-48.
7. Verhoef M, Barf HA, Post MW, van Asbeck FW, Gooskens RH, Prevo AJ. Functional independence among young adults with spina bifida, in relation to hydrocephalus and level of lesion. Dev Med Child Neurol. Feb 2006;48(2):114-9.
8. Robbins JM, Tilford JM, Bird TM, et al. Hospitalizations of newborns with folate-sensitive birth defects before and after fortification of foods with folic acid. Pediatrics. Sep 2006;118(3):906-15.
9. Stubberud J, Langenbahn D, Levine B, Stanghelle J, Schanke AK. Goal management training of executive functions in patients with spina bifida: a randomized controlled trial. J Int Neuropsychol Soc. Jul 2013;19(6):672-85. 
10. McLone DG, Knepper PA. The cause of Chiari II malformations: a unified theory. Pediatr Neurosci. 1989;15:1-12.