Dr. D N Bid [PT]Sarvajanik College of Physiotherapy, Surat

Spina BifidaAnd Physiotherapy

•What is it?•What causes it?•How can it be prevented?•How can it be managed?•Social impact•Further information

Spina Bifida

•What is it?•What causes it?•How can it be prevented?•How can it be managed?•Social impact•Further information

Spina Bifida

“Split Spine” caused by incomplete closure of the neural tube, usually in the lumbar or sacral region

What is spina bifida?

What is spina bifida?-Worldwide incidence is 1-2 cases in 1000 births

-US incidence is 0.7 per 1000 live births-East coast higher than West coast-Slightly higher incidence in Caucasian population-Irish immigrants also have a higher risk

-Seen more in children born in late summer and early fall

What is spina bifida?Anatomy review

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What is spina bifida?Anatomy review

Dorland’s Medical Dictionary

Meninges

What is spina bifida?

Several classifications that vary in severity depending on location and extent of opening

Spina bifida occultaSpina bifida cystica

meningocelemyelomenigocele

Spina bifida ventralis

Spina bifida occulta – “hidden”- The bony vertebra is open, but the spine is within the spinal canal- The skin may have a lipoma (small benign fatty tumor), some discoloration (birthmark), or a small tuft of hair overlying the spinal defect- Most patients with spina bifida occulta do not know they have it- There may be tethering of the spinal cord

What is spina bifida?

What is spina bifida?Spina bifida occulta – tethered spinal cord-Often occurs later in life- Caused by limitations of movement of the spinal cord within the spinal column- Patients often have low back pain, weakness in the legs, and/or incontinence depending on the site of tethering

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What is spina bifida?Spina bifida cystica – meningocele-The bony vertebra is open, part of the meninges is protruding out of the spinal canal- Since the spinal cord is not protruding, there is often normal function- Some cases of tethering have been reported

What is spina bifida?Spina bifida cystica – myelomeningocele-The bony vertebra is open, part of the meninges and part or all of the spinal cord is protruding out of the spinal canal- Since the spinal cord is protruding, it is often not fully developed- Involved nerve roots are often not developed resulting in weakness, pain, and/or paralysis

What is spina bifida?Spina bifida cystica – myelomeningocele- Arnold Chiari malformation II is often associated with myelomeningocele and occurs when the cerebellum is forced downward- This can result in life-threatening situations because the build-up of cerebrospinal fluid can cause pressure on the brain- Patients with Arnold Chiari malformations often require placement of a shunt to drain the excess fluid

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What is spina bifida?Spina bifida ventralis – anterior opening- Much less common than other forms of spina bifida- Meningeal sac will protrude into the retroperitoneal space and impinge on retroperitoneal organs such as the duodenum, ascending/descending colon, kidneys, adrenal glands, pancreas, aorta, and inferior vena cava

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•What is it?•What causes it?•How can it be prevented?•How can it be managed?•Social impact•Further information

Spina Bifida

What causes spina bifida?- The exact cause of spina bifida is unknown- All research to date has indicated both a genetic and environmental influence- The developmental process that results in spina bifida is well studied

Copyright ©2003 BMJ Publishing Group Ltd.Lin, J.-P. J Neurol Neurosurg Psychiatry 2003;74:23i-29i

Genetic Neuronal Migration

White Matter Injury

Cortical gray & subcortical injury

Developmental Biology – 6th ed.

What causes spina bifida?

What causes spina bifida?What would prevent the neural tubes from closing properly?Folate seems to play a large role in the closing of the neural tube – but it is unknown exactly how folate works in this process.

Folate influence was discovered by the increased incidence in spina bifida seen in Irish babies born in late summer and early fall. The lack of leafy green vegetables caused the mother to have low levels of folate during conception.

Genetics also play a role in the development of spina bifida. - Mothers with one child with spina bifida have an increased risk of additional children having spina bifida- Studies with folate-resistant mice

What causes spina bifida?Valproic acid (Depakote)-Oral medication used to treat seizures/convulsions, migraines, and bipolar disorder- Mechanism of action – thought to increase GABA levels in the brain- Pregnant women taking Valproic acid have an increased risk of having children with spina bifida

•What is it?•What causes it?•How can it be prevented?•How can it be managed?•Social impact•Further information

Spina Bifida

How can spina bifida be prevented?

EducationFolate intake

How can spina bifida be prevented?Education-Neural tube begins to close at day 22 after conception- Neural tube is usually fully closed by day 28 after conception

How can spina bifida be prevented?

Folate intake-Recommended that women of child-bearing age take 400 micrograms of folate per day-Pregnant women should take 600 micrograms of folate per day-Women with a previous child with spina bifida should take 4000 micrograms of folate per day- Folate can decrease the risk of spina bifida by up to 75%

How can spina bifida be prevented?

How can spina bifida be prevented?Sources of folate- Vegetables and grains- Many foods are now enriched with folate- Most multi-vitamins contain folate- Some vitamins are specifically formulated for women

•What is it?•What causes it?•How can it be prevented?•How can it be managed?•Social impact•Further information

Spina Bifida

How can spina bifida be managed?Treatment for spina bifida depends on the extent of spinal cord involvement- Spina bifida occulta usually requires no treatment unless pain from tethering develops- Meningocele usually requires removal and early management of the cyst- Myelomeningocele usually requires the most extensive treatment, but treatment is variable

How can spina bifida be managed?

Lesion Level

Above L3

L4 and below

S1 and below

S3 and below

Spinal-related disability

Complete paraplegia and dermatomal para-anesthesia, Bladder incontinence, Nonambulatory

Same as for above L3 except preservation of hip flexors, hip adductors, knee extensors; Ambulatory with aids, bracing orthopedic surgery

Same as for L4 and below except preservation of feet dorsiflexors, and partial preservation of hip extensors and knee flexors; Ambulatory with minimal aids

Normal lower extremity motor function; Saddle anesthesia; Variable bladder-rectal incontinence

How can spina bifida be managed?- Detection- Antibiotics- Surgery- Careful observation- Physical therapy

How can spina bifida be managed?-Detection

-Triple screening-Maternal blood test for -fetoprotein-Ultrasound for bone defects-Amniocentesis

- -fetoprotein is elevated in 75-80% of cases of spina bifida (myelomeningocele)

Screening and diagnosis

(1)Blood tests • second trimester maternal serum alpha fetoprotein

(MSAFP) • alpha-fetoprotein (AFP) is made naturally by the

fetus and placenta. • But if abnormally high levels of this protein appear in

the mother’s bloodstream it may indicate that the fetus has a neural tube defect.

• The MSAFP test, however, is not specific for spina bifida.

• Ultrasound: An advanced ultrasound can also detect signs of spina bifida.

• AmniocentesisAn analysis indicates the level of AFP present in the amniotic fluid.

• A small amount of AFP is normally found in amniotic fluid. • when an open neural tube defect is present, the amniotic fluid

contains an elevated amount of AFP because the skin surrounding the baby's spine is gone and AFP leaks into the amniotic sac.

• MRI

Amniocentesis – using a needle to collect amniotic fluid

How can spina bifida be managed?

Treatment

• There is no cure for spina bifida. • The nerve tissue that is damaged or lost

cannot be repaired or replaced.• Treatment depends on the type and severity

of the disorder. • children with the mild form need no

treatment .

• The key priorities for treating myelomeningocele are to prevent infection from developing through the exposed nerves and tissue of the defect on the spine, and to protect the exposed nerves and structures from additional trauma.

• Doctors have recently begun performing fetal surgery for treatment of myelomeningocele.

• Fetal surgery involves opening the mother’s abdomen and uterus and sewing shut the opening over the developing baby’s spinal cord.

• They believe the earlier the defect is corrected, the better the outcome is for the baby.

• Still, the benefits of fetal surgery are promising, and include less exposure of the vulnerable spinal nerve tissue and bones to the intrauterine environment, in particular the amniotic fluid, which is considered toxic.

• Early surgery on the spinal cord may allow the child to regain a normal level of functioning and prevent further neurological deterioration.

• Some children will need subsequent surgeries to manage problems with the feet, hips, or spine.

• Individuals with hydrocephalus generally will require additional surgeries to replace the shunt

• Some individuals with spina bifida require assistive devices such as braces, crutches, or wheelchairs. The location of the malformation on the spine often indicates the type of assistive devices needed.

• Treatment for paralysis and bladder and bowel problems typically begins soon after birth

Prevention

• Folic acid is an important vitamin in the development of a healthy fetus.

• Recent studies have shown that by adding folic acid to their diets, women of childbearing age significantly reduce the risk of having a child with a neural tube defect, such as spina bifida.

• Dosage:400 micrograms of folic acid daily • Foods high in folic acid include dark green

vegetables, egg yolks, and some fruits.

prognosis

• Prognosis depends on the number and severity of abnormalities and associated complications.

How can spina bifida be managed?-Antibiotics

- In some cases the spinal cord is exposed to the environment- Antibiotics are essential in preventing infection of the CNS

How can spina bifida be managed?-Surgery

- In some cases the spinal cord is exposed to the environment or tethered- Surgery is performed in order to cover the spinal cord with muscle and skin or to untether the spinal cord- in utero surgery has also become a viable option for some cases

Surgery

• Surgery for spina bifida involves a variety of neurosurgical, orthopedic, and urologic procedures. Surgical procedures include the following: – Closure of the defect over the spinal cord– Spinal deformity reconstruction– Lower-extremity deformity correction

How can spina bifida be managed?- Careful Observation

- Children with myelomeningocele often have hydrocephalus (blockage of CSF)- Children may present with paralysis, blindness, MR, inability to speak, convulsions-Any changes in mental status or behavior should be quickly brought to the attention of the child’s physician(s)

How can spina bifida be managed?- Physical Therapy

Physical Therapy

• General functional expectations have been developed for patients in each lesion-level group to help direct physical therapy goals within an appropriate developmental context from infancy through adulthood.

• The therapy programs should be designed to parallel the normal achievement of gross motor milestones.

• In managing the cases of newborns with myelomeningocele, the physical therapist establishes a baseline of muscle function. As the child develops, the physical therapist monitors joint alignment, muscle imbalances, contractures, posture, and signs of progressive neurologic dysfunction.

• The physical therapist also provides caregivers with instruction in handling and positioning techniques and recommends orthotic positioning devices to prevent soft tissue contractures.

• Provide the infant with sitting opportunities to facilitate the development of head and trunk control.

• Near the end of the first year of life, provide the child with an effective means of independent mobility in conjunction with therapeutic exercises that promote trunk control and balance.

• For patients who are not likely to become ambulatory, place emphasis on developing proficiency in wheelchair skills.

• For patients who are predicted to ambulate, pregait training should begin with use of a parapodium or swivel walker.

• Exercise or household-distance ambulation may be pursued with use of traditional long leg braces (eg, hip-knee-ankle-foot orthosis, knee-ankle-foot orthosis) or the reciprocating gait orthosis [RGO]).

• Teach the school-aged child community-level wheelchair mobility skills, emphasizing efficiency and safety.

• The physical therapist assists with assessment of the community, home, and school environments to determine whether architectural barriers exist that may interfere with the child's daily activities.

Occupational Therapy

• Children with spina bifida often have impairment in fine motor skills and conducting activities of daily living (ADL).

• Initiate training early to compensate for these deficits and progress along the developmental sequence as closely as possible.

• Upper-extremity stabilization and dexterous hand use require adequate postural control of the head and trunk. In the first year of life, encourage development of these postural mechanisms or substitute passive support, if necessary, to promote eye-hand coordination and manipulatory skills.

• When adequate fine motor skills have been achieved, the occupational therapist provides instructions for use of adaptive equipment and alternative methods for self-care and other ADL for preschool- and school-aged children.

Recreational Therapy• Children with myelomeningocele often

experience restricted play and recreational opportunities because of limited mobility and physical limitations.

• This inactivity decreases the potential for normal development in all spheres and can exert a negative impact on self-esteem.

• For the infant and toddler with myelomeningocele, recreational therapy enhances opportunities for environmental exploration and interaction with other children.

• For the school-aged child, recreational therapy provides opportunities for participation in adapted sports and exercise programs, which can result in long-term interest in personal fitness and health.

• Recreational and physical fitness goals include socialization, weight control, and improved fitness (eg, flexibility, strength, aerobic capacity, cardiovascular fitness, coordination).

• Recreational therapy is helpful for promoting independence with adult living skills and often is used to assist the patient with shopping for and purchasing personal items, use of public transportation, and development of appropriate leisure activities.

•What is it?•What causes it?•How can it be prevented?•How can it be managed?•Social impact•Further information

Spina Bifida

Social impact

Prognosis and any deficits are dependent upon level of involvement- Estimates from 5-40 % of the world’s population may have spina bifida occulta- Meningocele is not very common and often has minimal impact once the cyst is removed- Myelomeningocele has the largest impact on patients and their families

Social impactChanges with time- Before antibiotics most children with myelomeningocele died because of infections in the CNS; those that survived were unlikely to ever walk- During the 1990s, the discovery of the role of folate in neural tube closure drastically decreased the number of cases of myelomeningocele- In the late 1990s, in utero surgery was attempted to close neural tube defects

Social impactChildren born with spina bifida today require some special treatment- Multiple surgeries starting as early as 48 hours after birth - Physical therapy- Bowel and/or bladder surgery – helps prevent infection and social stigmatism- Latex allergies are often present

In many cases, special centers are better equipped to treat children with spina bifida and have a variety of specialists on staff

Most children that are treated early will have normal IQ and be able to attend public schools

Mobility is the biggest concern for many patients with spina bifida – lack of mobility can lead to obesity and scoliosis

With proper treatment, individuals will live well into adulthood

Social impact

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