Spina Bifida: Causes, Symptoms, Diagnoses, and Treatment

Spina bifida is a birth defect in which an area of the spinal column doesn’t form properly, leaving a section of the spinal cord and spinal nerves exposed through an opening in the back.

 

Spina-Bifida2
Spina Bifida

Causes

Low levels of the vitamin folic acid during pregnancy are linked to spina bifida. Folic acid plays a large role in cell growth and development, as well as tissue formation. Not having enough folic acid in the diet before and during early pregnancy can increase a woman's risk of spina bifida and other neural tube defects.

The causes of spina bifida in pregnancies where mothers took prenatal vitamins and got enough folic acid are largely unknown. Some evidence suggests that genes may play a role, but most babies born with spina bifida have no family history of the condition.

A high fever during pregnancy may increase a woman's chances of having a baby with spina bifida. Women with epilepsy who have taken the drug valproic acid to control seizures also are at an increased risk of having a baby with spina bifida.


Types of Spina Bifida

There are two main types of spina bifida:

Spina bifida occulta - there is a bone defect in the spinal cord but there is no nerve (spinal cord) abnormality.
Spina bifida cystica - there is a defect of the spinal cord and the lining of the spinal cord is pushed out through the defect. Spinal cord tissue may also be pushed out through the defect.


Spina bifida occulta

Spina bifida occulta occurs in about 1 in every 10 people and rarely causes any symptoms or problems. Spina bifida occulta is the least serious type of spina bifida. The opening in the spine is very small, with one or more of the bones of the spine (vertebrae) not properly formed. The opening in the spine is covered with skin, so the gap is not visible from the outside.

Spina bifida occulta does not usually cause any symptoms and most people are unaware they have the condition. In such cases, no treatment is needed. In other cases, there may be some symptoms, such as bladder and bowel problems, or an abnormal curve of the spine (scoliosis).


spinabifida-picture

Spina bifida cystica

Spina bifida cystica occurs when the lining (membranes) of the spinal cord and sometimes the spinal cord push out through the defect in the spine. The two main types of spina bifida cystica are called meningocele and myelomeningocele:

Meningocele

Spina bifida meningocele is the rarest type of spina bifida. The protective membranes (the meninges) surrounding the spinal cord are pushed out between openings in the vertebrae. The meningocele is sometimes covered by a layer of skin. There are no spinal cord nerves in the protruding sac. The membranes can usually be removed by surgery.

The symptoms can be very variable. Sometimes there are few or no symptoms or problems. Others may have severe weakness of the legs and also bladder and bowel problems.

Myelomeningocele

This is the most serious type of spina bifida. The spinal column remains open along the bones making up the spine. The membranes and spinal cord push out to make a sac on the baby's back. This sometimes leaves the nervous system at risk of infections that may be life-threatening.

In most cases of myelomeningocele, surgery can be carried out to close the defect. However, damage to the nervous system will usually already have taken place. The nerve damage can cause a range of symptoms, including weakness (paralysis) of the legs and loss of feeling in the skin of the legs. There may also be problems with passing wee (urine) and poo (faeces, stools or motions).

Signs / Symptoms

  • Dimple on the affected location
  • Hair growth on the affected location
  • Inflammation along the affected spine
  • Absent or impaired sensation on the affected limbs
  • Unable or difficulty in limbs’ movement
  • Crooked Spine (Scoliosis)
  • Learning difficulties, fitting, vision problem among children with severe problems
  • Muscle weakness of the legs, sometimes involving paralysis(flaccid or spastic)
  • Bowel and bladder problems.
  • Seizures, especially if the child requires a shunt
  • Port-wine nevi (deep red-purple macular lesions)
  • Saclike cyst that protrudes outside the spine
  • Musculoskeletal deformities (scoliosis, hip dysplasia, hip dislocation, club foot, hip/knee contracture)
  • Hydrocephalus, alone with Type I or II Arnold Chiari malformation
  • Trunk hypotonia
  • Delayed automatic postural reactions

What are the complications of spina bifida?

  • Physical and neurological problems
  • Parts or total body paralysis with bowel problems
  • Commonly for those who underwent the shunt procedure
  • Difficult or unable to move the affected limbs
  • Bladder incontinence
  • Digestive system and voice production problems
  • Skin problems
  • Bowel problems
  • Hydrocephalus (compression of the brain due to excessive CSF)
  • Commonly ventricular shunt would be done on the babies with hydrocephalus. Excessive CSF will be drain out via a tube to the stomach
  • Brain infectious disease eg Meningitis and Encephalitis
  • Early maturity
  • Psychological problems eg depression and low self esteem

Evaluation and diagnosis of spina bifida

  • High-resolution level II ultrasound - to confirm the diagnosis and determine the location of the lesion, and to assess for any other birth defects such as club feet
  • Ultrafast fetal MRI - to confirm presence of the Chiari II malformation and to screen for evidence of any other neurologic abnormalities
  • Fetal echocardiogram - to determine any problems with the heart
  • Amniocentesis - to confirm the presence of elevated amniotic fluid alpha-fetoprotein (AFAFP) levels and acetylcholinesterase (AChE), which indicate open neural tube defects
  • Maternal serum alpha-fetoprotein (MSAFP) test - to confirm elevated AFP levels in the mother’s blood

EXMAINATION

Physical Exmaination

Subjective
Objective

NEUROLOGICAL EXAMINATION

The purpose of the examination is to determine, the level at which normal cord function ceases , and to assesyhe presence and degree of hydrocephalus.

SKULL : for examin sutures and fontanelles palpated for evidence of distension and incresde pressure.Measurement of occipital frontal circumference (OFC) should be carried out and chared.
CRANIAL NEREVES : asses by observation of the movments of face , tongue and palate and by watching the baby suck.
SPINE : spine should be palpated along its length as somtimes ther is multiple lesion which are not always obvious.The length and width of the lesion should be measured and position of spinal cord noted.
LIMBS : check active movements of limbs by simulating the leg and eliciting neonatal reflexes.The power of muscle should be assed by with and without gravity and with and without resistance. these is useful in check deformity such as talipes and congenital dislocation of hip.

BOWEL AND BLADDER : sphincter tone and bladder function should be assed.A patulous anus and dribling incontinence are associated with a lesion at the level of S2,3and 4. Retension of urine is associated with a lesion at S1.

Spina bifida treatment

The two main spina bifida treatment options are fetal surgery during pregnancy or surgery on the baby right after birth.

Deciding whether prenatal or postnatal spina bifida repair is appropriate is influenced by several considerations, including gestational age, the level of the myelomeningocele lesion on the spine, presence of the Chiari II malformation, and a number of important maternal health factors.

Spina bifida surgery after birth

If postnatal spina bifida surgery is recommended or selected, your pregnancy is monitored — often at your home hospital — and a cesarean delivery is planned at 37 weeks.

Traditional spina bifida treatment takes the form of surgical repair 24 to 48 hours after birth. Your child will undergo general anesthesia. A pediatric neurosurgeon removes the MMC sac, if one is present, and closes the surrounding tissue and skin over the defect to protect the spinal cord. After surgery, your baby will receive care in our Newborn/Infant Intensive Care Unit (N/IICU).

Spina bifida surgery before birth

Fetus with myelomeningocele before and after prenatal spina bifida repair
Fetus with myelomeningocele before fetal surgery (l) and after surgery (r)
Because spinal cord damage is progressive during gestation, prenatal repair of myelomeningocele may prevent further damage.

Objective Of Physiotherapy Management

  • To strengthen the muscle
  • To maintain/improve active joint movement
  • To maintain optimum lower limb range and strength
  • To improve joint sense and function
  • To maintain optimum muscle length to prevent contracture
  • To promote independent in daily activity
  • To relieve pain (if necessary)
  • Treatment can be given

Orthopedic Ambulatory supporting devices

  • Walking aid and brace usually been prescribed depending on patients’ functional level
  • Wheelchair
  • Exercise: there are many exercises that are suitable for affected child to participate e.g strengthening exercises, hydrotherapy etc
  • Rehabilitation
Dr Rohit Bhaskar, Physio
Dr Rohit Bhaskar, Physio Dr. Rohit Bhaskar, Physio is Founder of Bhaskar Health and Physiotherapy and is also a consulting physiotherapist. He completed his Graduation in Physiotherapy from Uttar Pradesh University of Medical Sciences. His clinical interests are in Chest Physiotherapy, stroke rehab, parkinson’s and head injury rehab. Bhaskar Health is dedicated to readers, doctors, physiotherapists, nurses, paramedics, pharmacists and other healthcare professionals. Bhaskar Health audience is the reason I feel so passionate about this project, so thanks for reading and sharing Bhaskar Health.

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