Spina Bifida PHTH422

Prepared by: Dr .Awwad Badran

MD.PT

Learning outcomes :

After studying this module, Students should be able to :

Define correctly what is the spina bifida .

List the possible causes of spina bifida Describe the different types of spina bifida

Describe the clinical pictures of spina bifida

Demonstrate the dignostic and treatement measures .

Demonstrate the social impact of spina bifida.

Explain the preventive measures of spina bifida .

Discuss what information is required by mothers prior to discharge.

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

What is spina bifida?

Incidence and epidimologyWorldwide incidence is 1-2 cases in 1000 birthsUS incidence is 0.7 per 1000 live birthsEast coast higher than West coastSlightly higher incidence in Caucasian populationIrish immigrants also have a higher riskSeen more in children born in late summer and early fall

Anatomy review

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Anatomy review

Dorland’s Medical Dictionary

Ménages

Types of spina bifida?Several classifications that vary in severity depending on location and extent of opening

1-Spina bifida occulta2-Spina bifida cystica

meningocelemyelomenigocele

3-Spina bifida ventralis

1-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

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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2-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

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

Spina bifida cystica – myelomeningocele…. (continoue

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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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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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

Causes of spina bifida(continoue

Neural Tube Defect:When the neural tube fails to properly close

during the 4th week embryogenesis.

Development of spina bifida in utero

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 bifidaStudies with folate-resistant mice

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

Clinical pictures of spina bifidaa-Primary clinical pictures

b-Secondary clinical pictures

a-Primary clinical pictures

1-Abnormal nerve conduction, resulting in:Somatosensory lossesMotor paralysis, including loss of bowel and bladder

control (all are below level of lesion) Changes in muscle tone

Motor levelLesion LevelAbove L3

L4 and below

S1 and below

S3 and below

Spinal-related disabilityComplete 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

Sensory LevelsT4T10L1L2L3

L4 L5S1S2S3-S5

2-An enlarged head caused by:

1- hydrocephalus (“water on the brain”)

11-Arnolds Chairi malformation 11

i. Hydrocephalus

VP Shunt done in 85-90% of MMC(1/3 will require revision at some time)

Most commonly due to obstruction of Cerebrospinal Fluid (CSF) Flow

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Arnold-Chiari type II MalformationDefinition: Medulla, Pons, 4th ventricle +/-

cerebellar vermis herniated into the cervical spinal canal

Incidence: 80-90% of those with MMC

Symptomatic: ~20%

Should be managed and treated as an emergency by (surgical decomperssion operation)

3-Urinary and Bowel symptomsUrinary symptoms:

In lumbosacral spina bifida cystica, few children attain urinary incontinence

They require urodynamic testing, including cystometrography, uroflowmetry, and EMG of the urinary sphincter

Types of lesions1. “Keepers”- UMN2. “Leakers”- LMN

According to results and consulting urologist patient may need intermittent catheterization, pharmacological agents, implantation of an artificial urinary sphincter or a combination.

Artificial urinary sphincter

Bowel symptomsA. ConstipationB. IncontinenceManagement techniques

-enemas -suppositories-habit training - digital stimulation-biofeedback -appendicostomy(ACE)

4-Musculoskeletal deformities (scoliosis)

5-Joint and extremity deformities (joint contractures, club foot, hip subluxations, diminished growth of non-weight bearing limbs)

6-Abnormal or damaged nerve tissue which can lead to loss of extroceptive and prorioceptive sensation .

Spine Spine Scoliosis

Plain spine films to measure scoliosis

b-Secondary clinical picturesSkin BreakdownDecubitus ulcers and other types of

skin breakdownObesityLatex AllergyOsteoporosis .

Management of spina bifida1-screening and dignosis

2-Treatement

3-followup and observation

4- prevention

1-Screening and DiagnosisPrenatal Tests

AFP(alphafeotoprotien)UltrasoundTesting of Amniotic fluid(Amniocetesis)

EvaluationAnalysis of individual medical historyPhysical examinationEvaluation of critical body systems

Imaging StudiesX-raysUltrasoundCT scanMRI

Gait Analysis

2-TreatmentNo cure

Regular check ups with physician

Surgery (24 hours after birth)

Medication

Physiotherapy

Surgical treatmentSurgery

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 (continue--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 reconstructionLower-extremity deformity correction

in utero surgery has also become a viable option for some cases

Medical treatement

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

Physical TherapyGeneral 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 dy sfunction.

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]).

Swivel walker and RGO

Example of a ParapodiumCommonly used for

children with high lesions (T12-L3)

Offers support to the hips, knees, and ankles.

(See Tecklin for additional descriptions and illustrations of orthoses used for various lesion levels.)

Occupational TherapyChildren 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 TherapyChildren 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.

Follow up and 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)

Folate intakeRecommended 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?

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

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 impact(continue….Changes with time Before antibiotics most children with myelomeningocele died because of infections in the CNS; those that survived were unlikely to ever walkDuring the 1990s, the discovery of the role of folate in neural tube closure drastically decreased the number of cases of myelomeningoceleIn the late 1990s, in utero surgery was attempted to close neural tube defects

Social impact (continue….Children born with spina bifida today require some special treatment :Multiple surgeries starting as early as 48 hours after birth Physical therapyBowel 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 (continue…

References Physiotherapy in pediatric (Jan Stephin

Tecklin ---3rd Edition) Pediatric Physiotherapy (Roberta Sheperd --

4rth Edition ) Physiotherapy for children (Suzan Cemell

4rth edition ) Access physiotherapy ( Pass ward –

medicine)