cuarteR 15 Spina Bifida: A Congenital Spinal Cord Injury KRISTIN J. KROSSCHELL, PT, MA, PCS, and MARI JO PESAVENTO, PT, PCS ‘(KEY TERMS OBJECTIVES Chiari malformation croueh-contolankle-ooterthos's 1 ddastematomyelia 2 hydrocephalus 3. loomeningocele rnyelodyspasia 4 rnyelomeningocele 5. reciprocating gait orthosis sacral agonasis spina bifida cystica 6 spina bifida occulta standing Atrame tethered spinal cord ‘After reacing this chapter the student or thorapist wil be abet: Identity the various types of spina bifida. Recognize the incidence and etiology of spina bids Ioenty tre cinical manitestatons of myelomeningocele, including neurological orthopedic, and urological sequel, CComprehend medical management in tre nowbom period and beyond. Determine prysical and occupational therapy evaluations, including manual muscle testing. range of motion, sensory testing, efx testing developmental and functional and mobilty assessments, and perceptual and cognt List the major physical and occupational therapy gals and appropriate therapeutie ‘management foreach ofthe folowing stages: a) before surical closure of sac, (after surgery during hospitalization (c reambulatory, (2 oder trough preschool age, (©) primary schcl age trough adolescence, and () transton to adulthood, valatons. 7. entity psychological ajustment to congenital spinal cod inary. Ati corinne is comple isi, When pina cord lesion exists from birth, additional complexity is added. This congenital condition predisposes many areas of the central nervous system (CNS) to not develop or function adequately. In addition, all areas of development (physical, cognitive, and psychosocial) that depend heavily on central functioning will likely be impaired. The clinician therefore must be aware of the significant impact this neurological defect has on motor function as well asa variety of related hhuman capacities ‘A developmental framework, the Guide to Physical ‘Therapist Practice,’ and the International Classification of Functioning, Disability and Health (ICF) have been used to aid in understanding the sequential problems of the child with spine bifida, The developmental model, however, rust always stay in line with the functional model for adult trauma because the problems of the congenitally involved child grow quickly into limitations in functional activities and participation in lie ofthe injured adult With concentration on the present but with an eye to the future, appropriate management goals can be achieved. ‘OVERVIEW OF CONE! INJURY ‘A congenital spinal cord lesion oceurs in utero and is pres- cent at the time of birth, Understanding how this malforma- ‘ion develops requires an appreciation of normal nervous system maturation. The nervous system develops from a portion of embryonic ectoderm called the neural plate During gestation, the neural plate develops folds that begin, to close, forming the neural tube (Figure 15-1). The neural tube differentiates into the CNS, which is composed of FAL INAL CORD brain and spinal cord tissue, In the normal embryo, neural tube closure begins in the cervical region and proceeds cranially and caudally, Closure is generally complete by the twenty-sixth day ‘Types of Spina Bifida Spina bifida involves a defect in the neural tube closure and, the overlying posterior vertebral arches. The extent of the defect may result in one of two types of spina bifida: ‘occulta or eystica. Spina bifida occulta is characterized by a failure of one of more of the vertebral arches to meet and. fuse in the third month of development. The spinal cord and, ‘meninges are unharmed and remain within the vertebral canal (Figure 15-2, A). The bony defect is covered with skin, that may be marked by a dimple, pigmentation, or patch of hhaix? The common site for this defect is the lumbosacral area, and it is usually associated with no disturbance of neurological or musculoskeletal functioning. Spina bifida cystica results when the neural and overlying vertebral arches fail to close appropriately. Cystic protrusion of the ‘meninges or the spinal cord and meninges is present Uhrough the defective vertebral arches. ‘The milder form of spina bifida cystica, called meningo- cele, involves protrusion of the meninges and cerebrospinal uid (CSP) only into the eystic sac (see Figure 15-2, B). The spinal cord remains within the vertebral canal, but it may exhibit abnormalities.’ Clinical signs vary (according to spinal cord anomalies) or may not be apparent. This is @ relatively uncommon form of spina bifida eystica ‘A more severe form of spina bifida cystica, called myelo: cele or myelocystocele, is present when the central canal of the spinal cord is dilated, producing a large, skin-covered a9420 SECTION Forebrain plate a Otic placode, Neural plate on (cut edge) Posterior’ neuropore Closed neural tube Neural groove Figure 15-1. Neural tube forming. (From Stark GD: Spina bifida: problems and management, London, 1977, Blackwell Scientific.) ‘TRANSVERSE VIEW Skin A Vertebral body ww eratral Meningocele spina la Spinal A Nerve yelemeningocele Figure 15-2 m ‘Types of spina bifida, A, Spina bifida occulta B, Meningocele. €, Myclomeningocele. (From MeLone DG An introduction 10 spina bifida, Chicago, 1980, Northwestern University.) 1 enabitation Management of Chents with Neurological System Pathology cyst. The neural tube appears to close normally but is distended from the cystic swelling. The CSF may cease- lessly expand the neural canal. Prompt medical attention is ‘mandatory. This form of spina bifida is also rare.‘ ‘The more common and severe form of the defect is known as myelomeningocele, in which both spinal cord and meninges are contained inthe eystic sac (see Figure 15-2, ©), Within the sac the spinal cord and associated neural tissue show extensive abnormalities. In incomplete closure ofthe neural tube (dysra- phism), abnormal growth of the cord and a tortuous pathway Of neural elements make normal transmission of nervous {impulses abnormal. The result i a variable sensory and motor impairment at the level of the lesion and below? In an open rmyelomeningocele, nerve roots and. spinal cord_may be exposed. with dura and skin evident a the margin ofthe lesion. Exposure ofthe open neural tube to the amniotic Aid environ- ment leads to neuroepithelial degeneration, with massive loss of neural tissue by the end of pregnancy.® Although spina bifida eystica can occur at any level of the spinal cord, myclomeningoceles are most common in the thoracie and lumbosacral regions. Myelomeningocele ‘occurs in 94% of the cases of spina bifida cystica, and two thirds of open lesions involve the thoracolumbar junction.* ‘The terms spina bifida, myelodssplasia and myelomeningacele are frequently used interchangeably ther forms of spinal dysraphism include diastematomy- elia,lipomeningocele, and sacral agenesis. Diastematomyelia is present in 30% to 40% of patients with myelomeningocele and is secondary to partial or complete clefting ofthe spinal cord. Lipomeningocele, another form of spina bifida eySti is usually caused by a vertebral defect associated with superficial fatty mass (lipoma or fatty tumor) that merges with the lower level of the spinal cord, No associated hydrocepha- lus is present, and neurological deficit is generally minimal; however, problems with urinary control and motor control of the lower extremities may be noted.’ Neurological tissue inva- sion may be caused by a tethered spinal cord: therefore early lipoma resection is indicated for cosmesis and to minimize neurological sequelae. Lumbosacral or sacral agenesis may ‘occur and is caused by an absence of the caudal part of the spine and sacrum. Children with this form of dysraphism may hhave narrow, latened buttocks, weak gluteal muscles, and a shortened intergluteal cleft. The normal lumbar lordosis is absent, although the lower lumbar spine may be prominent. Calf muscles may be atrophic or absent. The pelvic ring is completed with either direct opposition ofthe iliac bones oF ‘with interposition of the lumbar spine replacing the absent sacrum. These children may have scoliosis, motor and sen- sory loss, and visceral abnormalities including anal atresia, fused kidneys, and congenital heart malformations. Manage- ‘ment is started early and is symptomatic for each system." Failure of fusion of the cranial end of the neural tube results in a condition known as arencephaly. In this condi- tion some brain tissue may be evident, but forebrain devel- ‘opment is usually absent.” Sustained life is not possible with this neural tube defect; therefore this condition is not discussed further Incidence, Etiology, and Economic Impact Statistics about the incidence of spina bifida vary consider- ably in different parts ofthe world. Spina bifida and anen- cephaly, the most common forms of neural tube defects,affect about 300,000 newboms each year worldwide."? In the United States the incidence is currently 2.48 per 10,000, down irom approximately 7.28 per 10,000 bits from 1974 through 1979 (before the folic acid mandate).""? Current worldwide folic acid fortification programs have resulted in decreased incidence of spina bifida,”»"* with annual decteases of 6600 folic acid~preventable spina bifida and anencephaly births reported since 2006.!° There was a 31% decline in spina bifida prevalence rates in the immediate postfortification period (October 1998 through December 1999),!" There was a continued decline in spina bifida prevalence rates from 1999 to 2004 of 10%. Studies have also demonstrated that decline varied by ethnicity and race from preforification to optional fortification to manda~ Cory fortification in the United States” Initially after fortification, the largest decline in prevalence was noted in Hispanic and non-Hispanic white races or ethnicities Despite ths initial decline, postfortfication prevalence rates remain highest in infants bora to Hispanic mothers, and less in infants born to non-Hispanic white and non-Hispanic black mothers." In addition to periconceptual folate supple~ ‘mentation, itis thought that incidence has decreased subse~ quent to food fortification in several countries, decreased exposure (© environmental teratogens, and increased and ‘more accurate prenatal screening for fetal anomalies." Spina bifida is thought to be more common in females than in males, although some studies suggest no real sex difference.’ A study of the association of race and sex with different neurological levels of myelomeningocele found the proportions of whites and females to be significantly higher in patients with thoracic-level spina bifida." A sig~ nificant relation also has been noted between social class and spina bifida: the lower the social class, the higher the incidence." ‘A multifactorial genetic inheritance has been proposed as the cause of spina bifida, coupled with environmental factors, of which nutrition, including folic acid intake, are key. Cytoplasmic factors, polygenic or oligogenic inheri- tance, chromosomal aberrations, and environmental inilu- ences (¢g., teratogens) have all heen considered as possible causes.” Genetic factors seem to influence the occurrence of spina bifida. The chances of having a second affected child are between 1% and 2%, whereas inthe general popu- lation the percentage drops to one fifth of 1%." Although these factors are related (o the incidence of spina bifida, the cause of this defect remains in question. Environmental conditions, such as hyperthermia in the fist weeks of preg nancy, of dietary factors, such as eating canned meats or polaloes or drinking tea, have been implicated but not substantiated.” Tn addition, historically, nutritional defi- ciencies, such as of folic acid and vitamin A, have been implicated as a cause of primary neural tube defects." Approximately 50% to 70% of neural tube defects can be prevented if a woman of childbearing age consumes sufii- cient folic acid daily before conception and throughout the fist trimester of pregnancy. As a result of research findings in support of folic acid implementation, the U.S. Public Health Service has mandated folic acid fortification since 1998 as a public health strategy. Prenatal vitamins, espe- cially folic acid, are recommended to discourage the condi- tion’s development. Current fortification programs are pre~ venting about 22,000 cases, or 9% of the estimated folie CHAPTER 15m spina rida: ACongental spinal Cord niry 421 acid-preventable spina bifida and anencephaly cases." Genetic considerations, such as an Rh blood type, a specie gene type (HLA-B27), an X-linked gene, and variations in the many folate pathway genes have been implicated, but not conclusively.” Malformations are atributed to abnor- mal interaction of several regulating and modifying genes in carly fetal development." Disturbance of any of the sequen- tial events of embryonic neurulation produces neural tube defects (NTDs), with the phenotype (i, spina bifida, anen- ‘eephaly) varying depending on the region of the neural tube that remains exposed Environmental factors combined with genetic predisposition appear to tigger the develop- ‘ment of spina bitida, although definitive evidence is not available to suppor this claim,” ‘The incidence of spina bifida has declined since the advent of amniocentesis and the use of ultrasonography for prenatal screening. The presence of significant levels of alpha fetoprotein in the amniotic fiuid has led to the detec tion of large numbers of affected fetuses." Currently, mater- nal serum alpha-fetoprotein levels have been effective in detecting approximately 80% of neural tube defects. Prenatal screening can be most effective when a combina- tion of serum levels, amniocentesis or amniography, and ultrasonography is used," Although this screening is not yet performed routinely it is suggested for those at risk for the defect. Knowledge of the defect allows for preparation for cesarean birth and immediate postnatal care. This includes mobilization of the interdiseiplinary team that will ‘continue to care for the child. For parents who decide to carry an involved fetus to term, adjustment to their child's disability can begin before birt, which includes mobilizing their own support system. Education from an integrated ‘team regarding what will follow after delivery and neurosur- gical closure is imperative to aid families in decision makin and to allow families to assess and understand the child's disability and future care options Other advances in the field of prenatal medicine that affect spina bifida management and outcome include in ‘utero treatment of hydrocephalus and in utero surgical repair to close the myelomeningocele. This challenging surgical procedure is practiced in only a few specialty centers and so far has been shown to offer palliation ofthe defect at best.” ‘Treatment such as this, in conjunction with prenatal diagno- sis, has been shown to have a positive impact on the inci- dence and severity of complications associated with spina bifida." Limitations of current postnatal treatment strate- gies and considerations of prenatal treatment options con- tinue to be explored, Ethic, timing of repair, and surgical procedures ae all being investigated, In addition, continued assessment of outcomes from those who have undergone presurgical management requires continued exploration ‘The Management of Myelomeningocele Study (MOMS) was initiated in 2003 as a large randomized, clinical trial designed to compare the two approaches to the treatment of, infants with spina bifida (prenatal or fetal surgery versus postnatal surgery) to determine if one approach was better than the other. The primary end point of this trial was the need for a shunt at one year, and secondary end points included neurologic function, cognitive outcome, and ‘maternal morbidity after prenatal repair. This study had 112 patients enrolled in 2007 with a projected enrollment ‘of 200. The tial was stopped for efficacy of prenatal422 SECTION surgery after enrollment of just 183 infants, Results demon- strated that prenatal surgery significantly reduced the need for shunting and improved mental and motor function at 30 months. Reduced incidence of hindbrain herniation at 12 months and successful ambulation by 30 months were also reported. While prenatal surgery was associated with improved function and reduced need for shunting, maternal, and fetal risks, including preterm delivery and uterine dchiscense at delivery were reported.” In 1996 the lifetime cost to society per affected person with spina bifida was estimated to be $635,000." More recent estimates have not been reported: however, with an economy in flux it is likely that this value underassesses costs to society today, In addition to medical management costs per child, there are additional costs that affect both the family and society across the life span that are variable and, often related to differential market forces and social welfare policies.” Tn 2007, Ouyang™ reported that average medical expen- ditures during the frst year of life for those with spina bifida, during 2002 and 200% averaged $50,000 (using MarketScan 2003 database). The majority of expenditures during infancy ‘were from inpatient admissions secondary to surgeries being. concentrated during this time period for those with spina bifida. After infancy, average medical care expenditures dur= ing 2008 ranged from $15,000 to $16,000 per year among. different age groups of persons with spina bifida. Incremen- tal expenditures associated with medical care were not stable, but decreased with increasing age, from $14,000 per year for children to $10,000 per year for adults 45 0 664 years of age.” Clinical Manifestations ‘The most obvious clinical manifestation of myelomeningo- cele is the loss of sensory and motor functions in the lower limbs. The extent of loss, while primarily dependent on the degree of the spinal cord abnormality, is secondarily depen- dent on a number of factors. These include the amount of luaction or stretch resulting from the abnormally tethered spinal cord, the trauma to exposed neural tissue during delivery, and postnatal damage resulting from drying or infection of the neural plate Specific clinical impairments that commonly lead to functional limitations for the child, ‘with spina bifida are addressed in this section, Sensory Impairment Children with spina bifida have impaited sensation below the level ofthe lesion, The loss often does not match exactly the Tevel of the lesion and needs to be carefully assessed. Sen- sory loss includes kinesthetic, proprioceptive, and somato- sensory information, Because of this, children will often have to rely heavily on vision and other sensory systems t0 substitute for this loss. Musculoskeletal Impairment Weakness and Paralysis. Determining neurological involvement is not as straightforward as assumed. At birth, (ovo main types of motor dysfunction in the lower extremi- ies have been identified. The fist type involves a complete loss of function below the level of the lesion, resulting in a flaccid paralysis, loss of sensation, and absent reflexes. The extent of involvement can be determined by comparing the 1m Rehabltaton Management of Clent with Newolagial Sytem Pathology level of the lesion with chart delineating the segmental innervation of the lower limb muscles. Orthopedic deformities ‘may result from the unopposed action of muscles above the level of the lesion. This unopposed pull commonly leads to hip flexion, knee extension, and ankle dorsiflexion contractures. ‘When the spinal cord remains intact below the level of the lesion, the effect is an area of flaccid paralysis immediately below the lesion and possible hyperactive spinal reflexes distal to that arca. This condition is quite similar to the new- rological state of the severed cord seen in traumatic injury. ‘This second type of neurological involvement again results in orthopedic deformities, depending on the level of the lesion, the spasticity present, and the muscle groups involved, Orthopedic Deformities. The orthopedic problems that occur with myelomeningocele may be the result of (1) the imbalance between muscle groups: (2) the effects of, stress, posture, and gravity: and (3) associated congenital malformations. Decreased sensation and neurological com- plications also may lead to orthopedic abnormalities.” Besides the obvious malformation of vertebrae at the site of the lesion, hemivertebrae and deformities of other vertebral bodies and their corresponding ribs also may be present *%* Lumbar kyphosis may be present as a result of the original deformity. In addition, as a result of the bifid vertebral hodies, the misaligned pull of the extensor muscles surrounding the deformity, as well as the unopposed flexor ‘muscles, contributes further to the lumbar kyphosis. As the ‘child grows, the weight of the trunk in the upright position also may be a contributing factor. Scoliosis may be present at birth because of vertebral abnormalities or may become evident as the child grows older. The incidence of scoliosis is lower in low lumbar or sacral level deformities.” Scoliosis may also be neurogenic, secondary to weakness or asymmettical spasticity of paraspinal muscles, tethered cord syndrome (TCS), ot hydromyclia.* Lordosis or lordoscolio- sis is often found in the adolescent and is usually associated, with hip flexion deformities and a large spinal defect." ‘Many of these trunk and postural deformities exist at birth but are exacerbated by the effects of gravity as the child grows. They can compromise vital functions (cardiac and respiratory) and therefore should be closely monitored by the therapist and the family. “As has been alluded to previously, the type and extent of ‘deformity in the lower extremities depend on the muscles that are active or inactive. In total flaccid paralysis, in utero, deformities may be present at birth, resulting from passive positioning within the womb. Equinovarus (clubfoot) and ‘rocker-bottom” deformity are two of the most common {foot abnormalities. Knee flexion and extension contractures, also may be present at birth. Other common deformities are hip flexion, adduction, and internal rotation, usually leading to a subluxed or dislocated hip. Although many of these problems may be present at birth, preventing positional deformity (such as the frog-leg position), which may result from improper positioning of flaccid extremities, is of the ‘utmost importance. Orthopedic care varies throughout the course of the child's life. Changes in clinical orthopedic management have evolved to establish evidence-based interventions. ** Osteoporosis. Because the paralyzed limbs of the child with spina bifida have increased amounts of unmineralized ‘osteoid tissue, they are prone to fractures, particularly afterperiods of immobilization.”** Early mobilization and weight bearing can aid in decreasing osteoporosis.” Fortunately, these fractures heal quickly with appropriate medical management. Neurological Impairment Hydrocephalus. Hydrocephalus develops in 80% to 90% of children with myelomeningocele.*"* Hydrocepha- lus results from a blockage of the normal flow of CSF between the ventricles and spinal canal, The most obvious effect of the buildup of CSF is abnormal increase in head size, which may be present at birth because of the great com pliance of the cranial sutures in the fetus, or it may develop postnatally.” Other signs of hydrocephalus include bulging fontanels and iritability. Internally, a concomitant dilation of| the lateral ventricles and thinning of the cerebral white mat- ter are usually present. Without reduction of the buildup of CSE, increased brain damage and death may result Chiari Malformation. Patients with myelomeningocele have a 99% chance of having an associated Chiari I malfor- mation.® Cardinal features of the Chiari It malformation include myclomeningocele in the thoracolumbar spine, venting of the intracranial CSF through the central canal, bypoplasia ofthe posterior fossa, herniation of the hindbrain into the cervical spinal canal, and compressive damage to cranial nerves. This malformation is a congenital anomaly of the hindbrain that involves herniation of the medulla and at times the pons, fourth ventricle, and inferior aspect of the cerebellum into the upper cervical canal. The herniation usually occurs between Cl and C4 but may extend down to T1*®* In those with Chiari I malformations and spina bilfda there is a significant reduction in cerebellar volume, and within the cerebellum the anterior lobe is enlarged and the posterior lobe is reduced. Not all Chiari If malforma- tions are symptomatic. As a result of a symptomatic Chiari malformation, problems with respiratory and bulbar Fune- tion may be evident in the child with spina bifida * Paralysis of the vocal cords occurs in a small percentage of patients and is associated with respiratory stridor. Apneic episodes also may be evident, although their direct cause remains in question, Children with spina bifida also may exhibit difi- culty in swallowing and have an abnormal gag refiex.? Prob- Jems with aspiration, weakness and cry, and upper-extremity weakness also may be present in children with a symptom- atic Chiari TH malformation** Thus, depending on the orthopedic deformities present and the neurological involve~ ment, severe respiratory involvement is possible in the af- fected child. These symptoms may be caused by significant compression ofthe hindbrain structures or dysplasia of pos- terior fossa contents, which can also occur in patients with Chiari 1 malformation.** This complex hindbrain malfor- mation is a common cause of death in children with myelo- meningocele despite surgical intervention and aggressive ‘medical management * ‘Association Pathways. Diffusion tensor tractography studies of association pathways in children with spina bifida have revealed characteristics of abnormal development, impairment in myelination, and abnormalities in intrinsic axonal characteristics and extraaxonal or extracellular space. ‘These changes in diffusion metrics observed in children with spina bifida are suggestive of abnormal white matter develop- ‘ment and persistent degeneration with increased age” CHAPTER 15m Spin rida: ACongental Spinal Cord ny A423 Hydromyelia. Twenty percent to 80% of patients with rmyelomeningocele have hydromyelia*”"' Hydromyelia signifies dilation of the center canal of the spinal cord as, hydrocephalus signifies dilation of the ventricles of the brain, The area of hydromyclia may be focal, multiple, or diffuse, extending throughout the spinal cord. The bydromy- celia may be a consequence of untreated or inadequately treated hydrocephalus with resultant transmission of CSF through the obex into the central canal, with distention a result of increased hydrostatic pressure from above.* The increased collection of fluid may cause pressure necrosis of the spinal cord, leading to muscle weakness and scoliosis. ‘Common symptoms of bydromyelia include rapidly pro- gressive scoliosis, upper-extremity weakness, spasticity, and ascending motor loss in the lower extremities *” Aggressive ‘ueatment of hydromyelia at the onset of clinical signs of increasing scoliosis is mandatory and may lead to improvement in or stabilization of the curve in 80% of cases. Surgical interventions may include revision of a CSF shunt, posterior cervical decompression, or a central canal to pleural cavity shunt with a flushing device.®*” Tethered Cord. Teihered spinal cord is defined as a pathological fixation of the spinal cord in an abnormal caudal location (Figure 15-3). This fixation produces mechanical stretch, distortion, and ischemia with daly activities, growth, and development.” Ischemic injury from traction of the-conus directly comrlates with degree of oxidative metabolism and degree of neurologic compromise. In addition to ischemic injury, traction of the conus by the filum may’ also mechani- cally alter the neuronal membranes, resulting in altered elec- trical activity."" The presence of tethered cord syndrome (ICS) should be suspected in any patient with abnormal neu- ulation (including patients with myelomeningocele, lipom- ‘eningocele, dermal sinus, diastematomyelia, myclocystocele, tight filum terminale, and lumbosacral agenesis). Presenting symptoms may include decreased strength (often asymmetri- cal), development of lower-extremity spasticity, back pain at the site of sac closure, early development of or increasing degree of scoliosis especially in the low lumbar or sacral leveD,”" or change in urological function *"* Approximately 10% to 30% of children will develop TCS after repair of| 1 myelomeningocele. Because essentially all children with repaired myelomeningocele will have a tethered spinal cord as demonstrated on magnetic resonance imaging (MRD, the cysts Tension oncors Scar Normal Tethered Figure 15-3 m Tethered cond in myelodysplasa. (om Stabeli LT Practice of pediaric orthopedics, Philadelphia, 2001, Lippincot ‘Williams & Wilkins )424 SECTION diagnosis of TCS is made based on clinical criteria, The six common clinical presentations of TCS are increased weak- ness (55%), worsening gait (54%), scoliosis (51%), pain (G2%), orthopedic deformity (11%), and urological dysfunc- tion (6%)." This clinical spectrum may be primarily associ- ated with these dysraphie lesions or may be caused by spinal surgical procedures.” The cord may be tethered by scar issue or by an inclusion epidermoid or lipoma at the repair site:* ‘The primary goal of surgery isto detach the spinal cord where itis adherent to the thecal sac, relieving the stretch on the terminal portion of the cord. Surgery to untether the spinal cord (tethered cord release [TCR] is performed to prevent further loss of muscle function, decrease the spasticity, help control the scoliosis," or relieve back pain, "*"” The effectiveness of a TCR may be demonstrated by an increase in muscle function, relief of back pain, and stabili- zation or reversal of scoliosis."™*"” It has been reported that scoliosis response to untethering and progression of scolio- sis after untethering vary with location of tethering" as well as Risser grade" and Cobb angle.” Those with Risser grade 3 to 5 and Cobb angle less than 40 degrees are less likely to experience curve progression after untethering. ‘Those with Risser grades 0 to 2 and Cobb angle greater than 40 degrees ate at higher risk of recurrence.’*" Spasticity, however, is not always alleviated in all patients.” Selective posterior rhizotomy has been advocated for patients whose persistent or progressive spastic status after tethered cord repair continues to interfere with their mobility and functional independence **”" Bowel and Bladder Dysfunction. Because of the tusual involvement of the sacral plexus, the child with spina bifida commonly deals with some form of bowel and blad~ der dysfunction. Besides various forms of incontinence, incomplete emptying of the bladder remains a constant con- ccem because infection of the urinary tract and possible kid~ ney damage may result?” Regulation of bowel evacuation must be established so that neither constipation nor diarrhea occurs. Negative social aspects of incontinence can be minimized by instituting intervention that emphasizes patient and family education and a regular, consistently Cimed, reflex-iggered bowel evacuation.” Cognitive Impairment and Learning Issues. The last ‘major clinical manifestation resulting from the neurological involvement of myclomeningocele is impaired intellectual function, Although children with spina bifida without hydro cephalus may have normal intellectual potential, children with hydrocephalus, particularly those who have shunt infections, ate likely to have below-average inteligence.””*® These chil- dren often demonstrate learning disabilities and poor academic achievement. Even those with a normal 1Q show moderate to severe visual-motor perceptual deficit.” The inability to coor- dinate eye and hand movements affects leaming and may interfere with activities of daly living (ADL), suchas buton- ing a shirt or opening a lunchbox.” Dificulties with spatial relations, body image, and development of hand dominance may also be evident? Children with myclomeningocele demonstrate poorer hand function than age-matched peers This decreased hand function appears to be caused by cerebel- lar and cervical cord abnormalities rather than hydrocephalus (or a cortical pathological condition (see Chapter 21). Prenatal studies have shown that the CNS as a whole is abnormally developed in fetuses with myelomeningocele °° 1m Rehabltaton Management of Clent with Newolagial Sytem Pathology ‘The impairment of intellectual and perceptual abilities thas been linked to damage to the white matter caused by ventricular enlargement? This damage to association tacts, particularly in the frontal, occipital, and parietal areas, could account forthe often severe perceptual-cognitive deficits noted inthe child with spina bifida”! Lesser involvement of the temporal areas may account for the preservation of speech, whereas the semantics of speech, which depends on associa- tion areas is impaired, The “cocktail party speech’ of children with spina bifida can be deceptive because they generally use well-constructed sentences and precocious vocabulary. ‘A closer look, however, reveals a repetitive, inappropriate, and often meaningless use of language not associated with higher intellectual functioning, Research on learning dif ficulties in children with spina bifida and hydrocephalus suggests that many of these children experience difficulties ‘Tasks and skills affected include memory, reasoning, math, handwriting, organization, problem solving, attention, sensory integration, auditory processing, visual perception, and sequencing.!™>" Integumentary Impairment Latex allergy and sensitivity have been noted with inereasing frequency in children with myclomeningocele, with frequent reports of intraoperative anaphylaxis! These children have also been reported to have a higher than expected prevalence of atopic disease.""” A 1991 Food and Drug ‘Administration Medical Bulletin estimated that 18% to 40% of| patients with spina bifida demonstrate latex sensitivity, !*"! with others reporting an incidence of 20% to 67% 220) Within latex is 2% to 3% of a residual-fce protein material that is thought to be the antigenic agent" Frequent exposure to this material results in the development of the immuno globalin E antibody. Children with spina bifida are more likely to develop the immunoglobulin E sensitivity because of repeated parental or mucosal exposure tothe Intex antigen." Because of the risk of an anaphylactic reaction, exposure to any latex-containing products such as rubber gloves, therapy balls, pacifiers, spandex, dental dams, clastic or mubber ‘bands, balloons, adhesive bandages, or exercise bands should bbe avoided. Tatex-free gloves, therapy balls, treatment mats, and exercise bands are now widely available and should be considered for standard use in all clinics treating children with spina bifida, Spina bifida, even in the absence of multiple surgical interventions, may be an independent risk factor for latex sensitivity. Foods reported to be highly associated with latex allergy include avocado, banana, chestnut, and Kivi.!? Latex-free precautions from birth are more effective in pre- venting latex sensitization than are similar precautions inst tuted later in life!" Latex sensitization decreased from 26.7% to 4.5% in children treated in alatex-fee environment ‘rom birt.” ‘The presence of paralysis and lack of sensation on the skin places the child with spina bifida at major risk for pres- sure sores and decreased skin integrity. Various types of skin breakdown have occurred in 85% to 95% of all children with spina bifida by the time they reach young adulthood." ‘Common areas at risk for pressure sores include the lower back, kyphotic or scoliotic prominences, heels, feet, toes, and perineum. A pressure sore may result from excessive skin pressure that can cause reduced capillary flow, tissue anoxia, and eventual skin necrosis, Excessive pressure maymanifest itself early as reactive hyperemia, a blister, and later as an open sore of overt necrosis, Chronic, untreated, sores may lead to osteomyelitis and eventual sepsis.” Pressure sores offen result in loss of time from school and. ‘work and can lead to financial hardship from medical treat- ‘ment and hospitalizations. These negative consequences ean, largely be prevented with attention to education and instruc tion of the child and family. The goal of such education is to foster an understanding of the causes of skin breakdown and, the necessary meticulous attention to skin care that must be carried out on a regular bass, Growth and Nutrition otrtional intake and weight gain and loss have been found to be problematic in children with myelomeningocele. Early on, infants with spina bifida may have feeding issues as a result of an impaired gag refiex, swallowing difficulties, and a high incidence of aspiration.* Altered oral-motor function has been attributed tothe Chiari IT malformation"? These impair- ments may lead to nutitional issues and delayed growth and weight gain. Speech, physical, and occupational therapists as a team are often needed to adress these issues. Conversely, obesity can be a significant issue for children with spina bifida. This problem is complex and multfacto- rial." Mobility limitations and decreased energy expendi- ture result in lower physical activity levels. In addition, decreased lower limb mass diminishes the ability to bum calories, which leads to weight gain, Decreased caloric intake as well as a lifelong engagement in rewarding and physically challenging physical activities are both necessary {o enhance weight control and control obesity Children with myelomeningocele are short in stature Growth in these children may be influenced by growth- retarding factors asa result of a neurological deficit such as tethered cord." Endocrine disorders and growth hormone deficiency have also been found to contribute to short stature in this population." As a result of complex CNS anomalies (midline defects, hydrocephalus, Amold-Chiari malforma- tion), these children are at risk for hypothalamopituitary dysfunction leading to growth hormone deficiency.'®!™ Treatment with recombinant human growth hormone has proven successful in fostering growth acceleration in these Children, 5:26 Psychosocial Issues Considering all the clinical manifestations resulting from this congenital neurological defect. social and emotional difficulties will arise for these children and their families. ‘These will be considered as appropriate when discussing the stages of recovery and rehabilitation from birth through, adolescence. ‘The preceding discussion concerning the clinical prob- lems of the child with spina bifida is intended to inform, not overwhelm, the clinician. With a firm understanding of the difficulties to be faced, evaluation and intervention can be more efficient and effective. Medical Management Ac or before birth, the myelomeningocele sac presents dynamic rather than a static disability. The residual neuro- logical damage will be contingent on the carly medical ‘management thatthe fetus or newborn receives CHAPTER 15 a spina Brida: A Congental Spinal Cord nly 425 Neurosurgical Management Since te early 1960s the presence of a myelomeningocele hha been teated asa life-threatening stustion, and sac clo- sure most often takes place within the ist 24 to 48 houts of life” Recent advances in treatment have le to investige- tional treatment in utero to repair the defect hefore birth * ‘The aim of either surgery is to replace the nervous tissue into the vertebral canal, cover the spinal defect, and achieve a watertight sac closure This early. management has decreased the possibilty of infection and futher injuty to the exposed neural cond" Progressive hydrocephalus may be evident at birth in a small percentage of children born with myclomeningo- cle, A greater majority, hoviever, have hydrocephalus 5 to 10 days after the back lesion has been closed == With the advent of computed tomography (CT), early diagnosis of hydrocephalus can be made inthe newborn without the need for clinical exsmination Although elinial signs are not always definitive, hyro- cephalus may be suspected if (1) the fontanels beceme fll bulging, or tens: (2) the head circumference increases rap- idly: (3) a separation of the coronal and sagital sutures i palpable; (@) the infant’s eyes appear 0 look downward ‘only, withthe cornea prominent over the iis Csunsetting sign’); and (5) the mfant becomes isitable or lethargic and has a high-pitched cry, persistent vomiting, difficult feeding, or seizures (Table 15-1)2260> Tf the results of CT confirm hydrocephalus, a venticular shunt is indicated, This procedure involves diverting the ‘excess CSF from the ventricles to some site for sheorption, In general, two types of procedures—the ventriuloatil (WA) and venticulopeitoneal (VP) shunt—are curently used, the later being the most common Figure 15-4) The shunt apparatus is constructed from Silastic ting and con sists of tree parts a proximal catheter, distal catheter, and ‘TABLE 15-1 @ SIGNS AND SYMPTOMS (OF SHUNT MALFUNCTION Infants Bulging fontanel ‘Swelling along the shunt tract Prominent veins on scalp Downward eye deviation (“sunseting”) Vomiting or change in appetite Instability or drowsiness Seizures High-pitehed ery Headache Vomiting or change in appetite Lethargy or ititabiity ‘Swelling along the shunt tact Seizures Toddler (Onset of or increased strabismus All the above, plus Deterioration in school performance [Neck pain or pain aver myslomeningocee ste Personality change Decrease in sensory or motor functions Incontinence that begins or worsens Onset of or increased spasticity Older child426 SECTION Figure 15-4 m A, Ventriculoatial shunt. B, Ventriculoperitoneal shu | Rehabitation Management of Cents with Neurological Sytem Pathology ~ Incision Incision (From Stark GD: Spina bifida: problems and management, London, 1977, Blackwell Scientific.) one-way valve. As CSF is pumped from the ventricles toward its final destination, backflow is prevented by the valve system. In this manner intracranial pressure is con- trolled, CSF is regulated, and hydrocephalus is prevented from causing damage to brain structures. An alternate means of controling hydrocephalus may be the use of endoscopic third ventriculostomy (EVT). EVT is a procedure that, in selected patients with obstructive hydrocephalus, allows egress of CSF from the ventricles tothe subarachnoid space. This can decompress the ventricles. and allow normal intracranial pressures and brain growth. This procedure is typically reserved for last resort." Unfortunately for children with spina bifida their prob- Jems do not end after the back is surgically closed and a shunt is in place. Management strategies in the care of shunted hydrocephalus vary." Shunt complications oceur frequently and require an average of two revisions before age 10 years.” The most common causes of complications are shunt obstruction and infection." Revising the blocked end of the shunt can clear obstructions. Infections may be handled by extemal ventricular drainage and courses of antibiotic therapy followed by insertion of a new shunting system.’ The problem of separation of shunt components has been largely overcome by the use of a one-piece shunting system. The single-piece shunt decreases the com plications of shunting procedures. Prophylactic antibiotic therapy 6 to 12. hours before surgery and | to 2 days postoperatively is effective in con trolling infection for both sac repair and shunt insertion." This briet course of antibioties has not led to resistant organisms. The main cause of death in children with :myelomeningocele remains increased intracranial pressure and infections of the CNS. With the use of antibiotics, shunting, and early sac closure, the survival rate has increased from 20% to 85%.°1%!57 Urological Management Initial newbom workup should include a urological assess- ‘ment. The urology team aims to preserve renal function and promote efficient bladder management. An early start to therapy helps t0 preserve renal function for children with spina bifida.’ Initially, a renal and bladder ultrasound is performed to assess those structures." Urodynamic testing can be performed to determine any blockage in the lower urinary tract. Functioning of the bladder outlet and sphine- ters, as well as ureteric reflux, also can be evaluated. These tests, plus clinical observations of voiding patterns, help the urologist classify the infant's bladder function. If the bladder has neither sensory nor motor supply, a constant flow of urine is present. In this case infection is rare because the bladder does not store urine and the sphincters are always open.!" If no sensation but some involuntary muscle control of the sphincter exists, the bladder will fill, bt emptying will not occur properly. Overflow or stress incontinence results in dribbling urine until the pressure is relieved. Because of constant residual urine, infection isa potential problem and kidney damage may result.'” When some voluntary muscle control but no sensation is present, the bladder will fill and empty automatically. The child can eventually be taught to empty the bladder at regular intervals to avoid unnecessary accidents. Regardless of the type of bladder functioning, urine specimens are taken to check for infection, and bloodsamples are taken to determine the kidney’s ability to filter the body's fluids, On the basis of clinical findings, the urolo- gist wll suggest the appropriate intervention ‘A program of clean intermittent catheterization (CIC) done every 3 to4 hours prevents infection and maintains the ‘urological system." Parents are taught this method and can then begin to take on this aspect of their child's care, At the age of 4 or 5 years, children with spina bifida can be taught CIC; thus they become independent in bladder care at 4 young age. Achieving this form of independence adds to the normal psychological development of these children. Some children may require urinary diversion through the abdominal wall (ileal conduit) or through the appendix (Mitrofanoff principle appendicovesicotomy)'“*" or other, Jess common methods, such as intravesical transurethral blad~ der stimulation, to handle theit urinary condition." AL- though CIC is not possible forall children with spina bifid, itremains the method of choice for bladder management. Bowel management and training programs should be started early. Medications, enemas, and attention to fiber content in the diet are all of value in establishing a bowel management program, The Malone antegrade continence enema (ACE) procedure is an important adjunct in the ease of adults and children with problems of fecal elimination in whom standard medical therapies have failed"! Orthopedic Management Orthopedic management of the newborn with a myelomenin- gocele will generally concentvate on the feet and hips. Soft issue releases of the feet may take place during surgery for sac closure. Casting the feet (Figure 15-5) and performing carly aggressive taping are also effective in the management fof clubfoot deformities," Short-leg posterior splints, (ankle-foot orthoses [AFOs]) may be used to maintain range and prevent foot deformities. The orthopedist also will evaluate the stability of the hips. In children with lower-level lesions, attempts to pre- vent dislocation are made by using a hip abductor brace (Figure 15-6, A) or a total-body splint (Figure 15-6, B) for a few months after birth. With higher-level lesions, dislocated, hips are no longer treated because they do not appear to have aan effect on later rehabilitation efforts.83525 Orthopedic management needs to be ongoing throughout the child's lifetime, with continued assessment of orthopedic Figure 15-5 m Plaster east of the foot and ankle to reduce club- foot deformities CHAPTER 15m Spina rida: ACongental Spinal Cord ney 427 deformities and need for surgical intervention, Important management issues relevant to function that the physical therapist (PT) should be aware of may include hip disloca- tion, knee valgus stress, scoliosis, foot deformities, frac- tures, osteoporosis, and postoperative management Hip Dislocation. Hip dislocations may occur at any level of neurologic deficit." The goal of treatment for those with hip dislocation should be maximum function, not radiographic realignment, The most important factor in determining ability to walk is the level of neural involve- iment and not the status of the hip." A level pelvis and good hip range of motion (ROM) are more important than hip relocation, In those with ower lumbar lesions and asym- metry caused by contracture, treatment will be directed at releasing the contracture and no attempts will be made to reduce the hip. Tip dislocations in those with sacral level lesions should be considered as lever-arm dysfunction, and surgical hip relocation is indicated."°2""""""" Immobiliza- tion after hip dislocation may lead to a frozen immobile joint from an open reduction procedute, redislocation from lack of significant dynamic forces available for joint stabil- ity around the hip joint, and an increased fracture risk. Recently a questionnaire, the Spina Bifida Hips Question- naite (SBHQ), to evaluate the ADLs that are important to children with spina bifida and dislocated hips and their families has been developed and has demonstrated construct validity as well as reliability." Knee Valgus Stress. Many children with spina bifida who walk have excessive trunk and pelvic movement, knee flexion contractures, and rotational malaligament that may lead to excessive knee valgus stress. The most common deformities leading to this problem are rotational malalign- ment of the femur and femoral anteversion in association with excessive anterior tibial torsion. These deformities should be addressed via surgical correction as excessive knee valgus stress can lead to knee pain and arthritis in adult life.°"8.08 Ty addition, the PT may need to reassess the child's gait pattern and use of assistive aids and bracing to ‘minimize stress and maintain long-term joint viability for those with spina bifida over the life span Seoliosis. The prevalence of scoliosis in spina bifida is estimated to be as high as 50%. Increasing scoliosis can lead, to loss of trunk stability when curves are greater than 40 degrees and when associated pelvic obliquity becomes 25 degrees or more, Surgical intervention, often recom- mended to prevent further progression, may improve oF further impair sitting balance, ambulation, and performance ‘of ADLs." Various authors have reported that although surgery can improve curves by up to 50%, surgical morbid ity must be considered and complications may be as high as 40% to 50%. Functional benefits are largely unsubstantiated owing to poorly constructed studies.'*"1* Wai'* suggests that spinal deformity may not affect everall physical func- tion oF self-perception, After surgical correction it may take up to 18 months to appreciate functional improvement, and walking may be difficult for those who were just exercise ambalators before correction. Although surgical repair of scoliosis does improve quality of life in patients with cere- bral palsy and muscular dystrophy, this has not been demon- strated in those with spina bifida" Interventions such as chair modifications to shift the trunk to improve balance in the coronal plane and reduce pelvic obliquity and truncalA2B_——SECTION Hm Rehabitason Management of Cents with Neurological System Pathology : asymmetry should be considered as a first option, before surgical correction. !®*!"? Back Pain. Back pain needs to be efficaciously evalu- ated in those with spina bifida who report back pain. Know= ing when the patient experiences pain, what increases pain, ‘what positions exacerbate pain, and what region of the body is affected can help lead to appropriate referral, testing, and management. Knowing if your patient has a shunt, spinal rods, and/or a Chiari malformation will also be important to your assessment and management, Pain in the neck, shoul- Gers, and upper back with associated weakness and/or abnormal sensory findings should be evaluated by the treat- ing neurosurgeon to rule out shunt malfunction. Spinal rods that have broken or that are breaking through the skin may also be a source of pain in this area. Pain not caused by rods, a shunt, Chiari issues, or a syrinx may have a mechanics cause and could be a result of poor posture, tension, or weight gain. A patient who reports low back pain may have a symptomatic tethered cord if the patient is also reporting changes in gait, increased tripping or falling, bladder changes, and/or pain shooting down the legs. Manual muscle testing. (MMT) and urodynamic testing (refer to Chapter 29) are appropriate at this point and should be compared with base- line testing findings. Mechanical low back pain may be @ result of abnormal gait mechanics, asymmetrical strength, and use of older orthotics that no longer ft. Assessment of seating and support systems, including cushions, and gait mechanics and use of orthotics and ambulatory aids are mandatory to inerease stability and redistribute balance Figure 15-6 = A, Hip abductor brace, B, Total body splint. over stressed joints and to maximize reduction of the patient's pain and discomfort. Strengthening, particularly of the gluteal muscles, for those who are ambulatory may also be indicated. In addition, programs aimed at weight reduction may be necessary to alleviate stress and pain to preserve long-term viability of tissues. In addition, for women the chest may cause tension on the upper back, and ‘breast reduction has been advocated for some to relieve this tension 8-1" Foot Deformity. The goal of treatment of the foot in spina bifida should be a flexible and supple foot, An insen- sate flail foot often becomes rigid over time, and foot man- agement can become complicated by pressure sores. Up to 95% of patients will use an orthosis, and a supple flail foot will be easier to manage over time, Surgeries that are ‘extrarticular with avoidance of arthrodesis, as well as sim- pile tenotomies versus tendon seleases and lengthenings, ‘may best manage outcomes for bracing and ambulation. Equinovarus deformities may be managed with carly and inlensive taping in the neworn period, known as the French ‘method, steetching and casting, and surgical interven- tion. The Ponsetti method, advocated by some, also has been reported to have positive outcomes: however, the significant investment in time and commitment by the family for fre- ‘quent cast changes may affect the ability to carry out other ADLs without disruption." In those with lipomas, foot deformity that may be acquired over time is best managed in a similar manner. Maintaining a supple and plantigrade foot with adequate muscle balance with use of soft Ussue