Neural defects (Spina Bifida)

(Spina Bifida / Meningocele / Myelomeningocele / Myelocele)

Spina bifida, a neural defect is a birth defect affecting the spinal column. It can be very mild to severe in according to the defect or damage in the spinal column. Spina bifida begins in the womb, when the tissues fold to form the neural tube. This causes an opening in the vertebra which surrounds & protects the spinal cord. This occurs just a few weeks or 21 to 28 days after conception. Unfortunately it begins usually before the woman knows that she is pregnant.

Prevalence / incidence
1 in 1000 live birth

Common / General signs / Symptoms /Features
A child with spina bifida can have many of these signs / symptoms

• In most cases, a lump / wound on the back at the spine
• In some cases, dimple, dark, small hairy patch on the skin overlying the base of spine, other may have a fatty growth called as epidural lipoma, that forms within the spinal cord. This is usually harmless but may result in tethering of spinal cord.
• People with Spina bifida occulta, are always completely asymptomatic (No obvious symptoms).
•  Presence of various degrees of leg paralysis
• Spine, hip, foot, and leg deformities are often due to muscle imbalance.
•  Most common bladder & bowel problems and inability to voluntarily relax the muscles that hold urine in the bladder and stool in the rectum
•  Hydrocephalous affecting about 90% people with Spina bifida
• Abnormalities at the lower spine are always accompanied by upper spine abnormality (ARNOLD CHIARI MALFORMATION) causing subtle co-ordination.
•  Tethered spinal cord -the cord is attached to surrounding tissues and can’t move up and down freely as it normally does. This can cause foot / leg deformities, hip dislocation or scoliosis. The problems can worsen as the child grows and tethered cord is stretched.
•  Obesity & urinary tract disorders (due to poor drainage)
•  Pathologic bone fractures occur in as many as 25% of people with Spina bifida.
•  Growth hormone deficiency resulting in short stature people which is common in Spina bifida
•  Although most people with Spina bifida have normal intelligence, a few may have learning disability.
•  An allergic reaction to latex can be life threatening.

Types / Kinds of Spina Bifida
The defect varies in severity from a mere failure of the spinous process, to a bony defect with a major aberration in the development of the neural elements. Spina bifida can be

• Spina bifida occulta
•  Spina bifida cystic
•  Meningocele
•  Myelomeningocele
•  Myelocele

Spina bifida occulta
It is the mildest and commonest form of spina bifida. It is seen at lumbo-sacral spine mostly. Externally the skin may be normal or there may be tell-tale sign in the form of a dimple in the skin, lipomatous mass, dermal sinus or a tuft of hair. There may be presence of muscle imbalance of the lower limb with selective wasting. Equinovarus is a very common foot deformity associated with spina bifida occulta

Spina bifida cystica
 In severe cases, the neural tube may be exposed. It usually involves neurological problems that can be very serious or even fatal. A section of spinal cord and the nerves that stem from the cord are exposed and visible outside of the body as if there is a cyst. It encloses part of the cord and the nerves. This condition accounts for 94% of cases of true Spina bifida.

Meningocele
A meningocele is another type of spina bifida where there is a sac protruding from the spinal column. The sac contains spinal fluid, but does not contain neural tissue. It may be covered with skin or with meninges. In this variety, occasionally the spinal cord & its nerve roots are contact.  

Myelomeningocele
Myelomeningocele is a severe form of neural defect / spina bifida in which the spinal cord and nerves develop outside of the body. It is associated with muscles paralysis, sensory loss, bladder & bowel incontinence and deformities. It may be present from 4th thoracic to 1st sacral vertebra (T4-S1). This is associated with paraplegia, bladder and kidneys infections, skin ulceration etc. Pathological fracture, meningitis, and hydrocephalous are also common.

Myelocele
In myelocele, the spinal cord is exposed and the nerve tissue lies exposed on the surface of the back without even a covering of skin or of the meninges. This type of Spina bifida results from an arrest in development at the time of closure of the neural groove.

Associated factors / conditions with Spina bifida
Hydrocephalus

• Vision problems
• Obesity
• Low intelligence
• Sensory Loss
• Skin problems
• Latex allergy
• Decubitis Ulcer / pressure sores

All of these co morbid conditions require special attention. Ignoring any of these associated problems will be dangerous and outcomes of whole treatment will be very poor

Causes / etiology of Spina bifida
There are many reasons which can cause spina bifida.

•  Genetic factors- Having a child with Spina bifida increases the chances that another child with Spina bifida by 8 times
• Environmental factors- Exposure to harmful substance probably contribute to Spina bifida
• Obesity-Pre-pregnancy obesity is also associated spina bifida
• Deficiency of folic acid during pregnancy
• Some medications such as anti-seizure medicines
• Maternal diabetes- Diabetes during pregnancy have been found associated with spina bifida

Diagnosis making
Spina bifida is easily recognized at the time of birth by seeing the wound at the back. The delivery team will inform the parents as soon as possible about the condition as it require intensive and specialized treatments. Sometimes spina bifida occulta is not diagnosed at the time of delivery due to mild in nature. Just after the diagnosis, the child will be referred to a specialist team to screen and examine for other associated problems. The associated problems such as hydrocephaly, seizures need immediate intervention. 
These days, spina bifida is detected before the child is born, during mother’s pregnancy only. In fact, there is a routine test to screen for spina bifida and others birth defects. Spina bifida can be screened with maternal blood tests, but typically the diagnosis is made with the help of ultrasound. Other medical tests which help in diagnosing are

• Maternal serum alpha-fetoprotein (MSAFP) test
•  Test to confirm high AFP levels.
• Fetal ultrasound is the most accurate method to diagnose spina bifida in a baby before delivery
•  If the prenatal ultrasound confirms the diagnosis of spina bifida, amniocentesis is requested

 
Medical Tests and Investigations
The following tests are done to treat the core symptoms and associated factors while managing a child with spina bifida

• X -ray of the spine / hips
• CT Scan / MRI of the Spine / Brain
• EEG in case of seizure disorder
• Blood tests –Kidney function test, etc
• Urine and stool tests

Treatments and Management of Spina bifida:
Children with Spina bifida require both treatment and management. Treatment of the associated disorders is started as soon as possible. Surgical repair of the wound is done to reduce the chance of infection.
The treatment plan is modified according to the age of the child and severity of the condition. Generally the following principle is followed

•  Surgery before birth
• Cesarean birth
• Surgery after birth
• Ongoing Care

Surgery before birth
Fetal surgery / prenatal surgery for spina bifida take place before the 26th week of pregnancy. Fetal surgery reduces the impact of disability and chances of having hydrocephaly. Mothers who have been told about having a fetus with spina bifida should ask for fetal surgery if possible. Please note, fetal surgery is a highly advanced surgery so it should be done only where all facilities and experienced professionals are available.

Cesarean birth
Parents should go for cesarean delivery as many babies with mylomeningocele are found to be in breech position and normal delivery becomes dangerous.

Surgery after birth
Children with mylomeningocele need surgery. Surgery should be done as soon as possible to reduce the chances of infection and fetal death. In case of hydrocephaly, a shunt is implanted simultaneously. 

Ongoing Care
Except children with spina bifida occulta, all children with spina bifida require ongoing care in the form of surgery, medications, physiotherapy, occupational therapy, use of assistive technology, and in schooling.

Treatment Team
A specialized treatment must be available to treat and manage children with spina bifida due to its various needs.   ICD’s holistic management team comprises of

• Neonatologist
•  Pediatrician
•  Developmental Specialist
• Pediatric Neurosurgeon
• Pediatric Neurophysician
• Ortho and Spine Surgeon
• Eye Specialist
• Early interventionists
• Physiotherapists
• Occupational therapists
• Special Educators
• Orthotician
• Postural and mobility Aids Technicians
• Dietician
• Urologists / Nephrologists (Kidney specialist)

Treatment Options available with ICD, New Delhi
Surgical Treatments (Neurosurgery, Orthopedic surgery, etc)
Surgery is the most common treatment for Spina bifida & its complications. Most children with severe form need a series of operations. First, which is usually done in the first 48 hours of life, involves tucking the expose cord & nerve roots back into the surrounding membrane closing the defects in cord & membrane & covering the wound with muscle & skin flaps taken from either side of the back. Subsequent, surgeries involve correction of deformities. This might includes cutting tendons or ligaments to release contractures, and rebalancing muscles around the involved joints. When regular examinations indicate that the individual's functioning is declining while a physical deformity gets worse, surgery should be considered.
Medications
Problems like hydrocephaly, Seizures, frequent urinary tract infections, etc are taken care with medications.

Therapies (Physiotherapy, Occupational therapy, etc)
Immediate after the child is discharged from the hospital, early intervention should be started. The early intervention program should have the components of physiotherapy, occupational, cognitive and communication therapy. The intervention should focus on

• Positioning and Postural management
•  Developing milestones both gross motor and fine motors
•  Joint Mobilization / Range of motion / preventing deformities
•  Strengthening of muscles
•  Improving balance and coordination
•  Mobility enhancement and ambulation
•  Independency in Activities of daily life (ADL)
•  Assessing and helping in cognition enhancement
•  Promoting communications
•  Schooling and Inclusion

Aids and Appliances (Orthoses, Braces, etc)
Children with spina bifida require the help of assistive technology with orthoses, postural aids, mobility aids, etc according the age and abilities. The common aids and appliances used are

• Orthotics: AFO, KAFO, HKAFO (Calipers),Spinal jacket, Knee immobilizers, etc
•  Postural Aids: Corner chair, Arm chair, Standing frame, etc
•  Mobility Aids: Rollator, Elbow crutches, Tripods, Canes, Wheel chair, etc   

 Alternative and Complimentary Medicines
The associated conditions are satisfactorily treated with alternative medicines like homeopathy, Ayurvedic, Unani, Acupuncture, herbal medicines, etc. Please note, here in ICD, New Delhi, CAM are being used along with the standard treatments.    

 Exploratory Therapies
The role of Hyperbaric Oxygen therapy and stem cell therapy has not been established in the management of spina bifida.

Prognosis and Employment Opportunities

• Children with spina bifida occulta lead normal life and enjoy open employment
• Children with other forms of spina bifida require lifelong care and medical management. They can be fully independent to totally dependent. Lot of them can move with elbow crutches, tripods, sticks or wheel chairs.
• On the basis of Academic skills, ADL independency and mode of mobility, they are provide employment opportunities
•  Very few children with spina bifida have intellectual disability, so most of them can be educated to have a productive lives

If you have any query about a child with spina bifida, please contact us for guidance and support

Mail at: helpicd@gmail.com  Whatsapp at: +91-7838809241     Voice Call at +91-11-41012124