CHAPTER 14 Motor Disabilities and Multiple Handicapping Conditions
In this chapter, we will discuss two of the more common motor disabilities: cerebral palsy and spina bifida. The term cerebral palsy actually refers to a group of disorders that are characterized by impairments in movement or posture as a result of injury or anomaly of the developing brain. Spina bifida is a generic term for chronic conditions related to defects in the developing neural tube. For each, we discuss definition and classification, prevalence, etiology, strategies for prevention, evaluation, management, and associated health and developmental problems.
CEREBRAL PALSY
Definition and Classification
Classification of cerebral palsy is based on anatomical distribution of the dysfunction, type of neurological involvement, and function. Children may have monoplegia (involvement of a single extremity), hemiplegia (one side involved), diplegia (predominant involvement of legs), or quadriplegia (total body involvement). Motor dysfunction may be asymmetrical or there may be primary involvement of one arm and both legs (triplegia). Neurological type is classified as spastic, dyskinetic (includes dystonia and athetosis), ataxic, and mixed. Some clinicians also include a hypotonic or atonic type of cerebral palsy. The Gross Motor Function Classification System (GMFCS) defines functional status by categorizing children with cerebral palsy into one of five different levels of function primarily on the basis of skills in sitting and walking (Table 14-1).2
| Level I | Walks without restrictions; limitations in advanced skills only |
| Level II | Walks without assistive devices; limited outdoors/community mobility |
| Level III | Walks with assistive mobility devices; limited outdoors/community mobility |
| Level IV | Self-mobility with limitations; transported in wheelchair or use power mobility in outdoors/community |
| Level V | Self-mobility is severely limited, even with the use of assistive technology |
From Palisano R, Rosenbaum P, Walter S, et al: Development and reliability of a system to classify gross motor function in children with cerebral palsy. Dev Med Child Neurol 39:214-223, 1997.
With the current system, it has not been clear when diplegia with significant upper extremity involvement should be classified as quadriplegia or when involvement of one upper extremity and both legs should be classified as asymmetrical quadriplegia, triplegia, or diplegia with superimposed hemiplegia.3 It has also been unclear what various authors have meant by “mixed”; for example, how significant is the spasticity and the dystonia in a child with mixed spastic dystonic quadriplegia? Children with cerebral palsy often have significant oral motor (bulbar) and truncal involvement, and neither is included in the current classification system. Although the GMFCS has become a widely used and validated tool for functional classification,4 it does not address upper extremity function. Finally, studies have varied with regard to which children with known genetic disorders and which young children with acquired brain injury to include or exclude.
In 2004, discussions at the International Workshop on Definition and Classification held in Bethesda, Maryland, led to the publication in 2005 of a proposed new definition and classification system for cerebral palsy (Table 14-2).5 A number of cited factors supported the need for the new definition and classification system, including improved knowledge of brain development, neuroimaging techniques, and measurement tools; the increase in number and quality of outcome studies; and the need to compare children across studies. The authors also noted that the current definition and classification system did not include associated disabilities and chronic health problems, which are common and significantly affect a child’s ability to participate in desired societal roles. The proposed definition is as follows:
TABLE 14-2 Components of a Proposed Classification System for Children with Cerebral Palsy
From Bax M, Goldstein M, Rosenbaum P, et al: Proposed definition and classification of cerebral palsy. Dev Med Child Neurol 47:571-576, 2005.
The proposed classification system addresses most of these issues. The components of the proposed cerebral palsy classification are listed in Table 14-2. Classification requires identification of the predominant tone or movement abnormality and identification of any secondary tone or movement abnormalities. It also requires description of the functional motor abilities in all body areas, although the authors acknowledged the need for research validation of measurement tools for arm and hand function and for speech and oral motor function. This classification eliminates the categorization of diplegia, quadriplegia, and so forth; requires description of the distribution of the dysfunction in all body areas, including the trunk and bulbar regions, and a description of associated health and developmental conditions or deficits; and includes identification of a clearly defined cause if there is one. This addresses a key issue for parents: the cause of the child’s problem. This classification does not resolve the issue of inclusion or exclusion of children with known genetic disorders or the age for inclusion of children with postnatally acquired brain injury. It may exclude some children currently classified as having cerebral palsy who have no or minimal activity limitation. Much work remains to be done to develop a reliable and useful system for both clinical and research practice.
Prevalence
The prevalence of cerebral palsy remains at 1.5 to 2.5 per 1000, and has remained essentially unchanged for a number of decades.6–11 Studies on the prevalence of cerebral palsy have varied in whether they have included children with postnatal causes7,9 and whether they have included children with known causation.11 Improvement in the survival of infants with low birth weight has contributed to an increase in prevalence of cerebral palsy for these children12,13; however, the prevalence of cerebral palsy in children with birth weights of 2500 g or more has remained generally unchanged.14 In one study, investigators reported an increase in the number of children born at term with dyskinetic cerebral palsy.7 In this group, perinatal hypoxic-ischemic encephalopathy (HIE) was present in 71%.
The use of magnetic resonance imaging (MRI) in children with cerebral palsy has expanded the identification of children with developmental defects of the central nervous system. In one study, more than half of the children with cerebral palsy who were born at term had evidence of a prenatal causative factor, and most of them had developmental defects of the brain.15 In addition, 7% to 11% of all children with cerebral palsy who have undergone neuroimaging have been shown to have a central nervous system malformation.16 MRI also has improved the identification of schizencephaly in children with hemiplegia or quadriplegia. Schizencephaly results from probable ischemic injury to the brain at the 10th to 12th weeks of gestation. Only a small number of children with severe bilateral schizencephaly have an apparent genetic disorder.17 Case reports of children with hemiplegia associated with thrombophilic factors18,19 have increased research interest in the more general association of prothrombic factors in children with cerebral palsy. To date, there has been little research support for this association, other than for children who have had neonatal stroke.20–26 Children with identified genetic factors represent only about 1% to 5% of children with cerebral palsy.16,17,27
In a study that excluded postnatal causes, the relative contribution of prenatal factors was 22% and that of perinatal factors was 47%; the remainder of cases were unclassified.9 Of infants with low birth weight in that study, 59% had a perinatal causative factor, primarily periventricular leukomalacia (PVL) and intraventricular hemorrhage. In general, preterm infants with PVL represent about 35% to 40% of children with cerebral palsy.27 These children present with spastic diplegia, and their condition represents a common clinical type of cerebral palsy. Other common clinical types related to perinatal factors are hemiplegia and posthemorrhagic hydrocephalus after premature birth with grade IV intraventricular hemorrhage; congenital spastic hemiplegia and porencephaly visible on MRI scan (prenatal or perinatal factor); dyskinetic quadriplegia with a history of HIE; and athetoid quadriplegia with sensorineural hearing loss and a history of hyperbilirubinemia and kernicterus. Postnatal causative factors are identified in only about 10% of children with cerebral palsy.27
Prevention
Research into the causes of cerebral palsy in preterm infants has focused on two mechanisms of brain damage: insufficient cerebral perfusion and cytokine-mediated damage, potentially triggered by maternal or neonatal infection.12,28 For example, a number of studies have demonstrated an association between chorioamnionitis (infection), inflammatory cytokines, and white matter damage.29–32 Additional studies are needed in order to develop effective prevention strategies—for example, to document that chorioamnionitis actually precedes white matter damage29—and to clarify the role of protective factors such as thyroid hormones or glucocorticoids.12
Prevention strategies for full-term infants have focused on prevention of secondary or reperfusion injury in neonates with HIE. For example, MRI with diffusion-weighted imaging during the first days after birth is contributing to the early identification of full-term infants with significant HIE at high risk for subsequent cerebral palsy, so that neuroprotective strategies can be initiated.33–36 A randomized clinical trial (RCT) of whole-body hypothermia in neonates with moderate and severe HIE has demonstrated reduction in the risk of both death and disability in the experimental group.37
Identification
NEWBORN
In general, cranial ultrasonography and MRI of preterm and full-term infants are more predictive than the clinical examination of the neonate or the identification of individual or combinations of perinatal risk factors. The neurological examination of the newborn is best at demonstrating current status but is poorly predictive of subsequent neurodevelopmental disability. In addition, data from the National Collaborative Perinatal Project demonstrated that perinatal risk factors, whether present alone or in combination, are poor predictors of cerebral palsy.38 Of children with high-risk factors, 97% did not have cerebral palsy, and high-risk factors were present in only 63% of the children with cerebral palsy.39
The finding of persistent ventricular dilatation, cystic PVL, and grades III and IV intraventricular hemorrhage on cranial ultrasonography are highly predictive of subsequent cerebral palsy.40 The timing of cranial ultrasonography in the preterm infant is critical. In one study, cranial ultrasonography detected 29% of abnormalities only after 28 days after birth.41 In the same study, 83% of the children with cerebral palsy at 2 years had major cranial ultrasonographic abnormalities on examinations that were repeated weekly to 40 weeks’ postconceptual age. The practice parameter of the Child Neurology Society recommends cranial ultrasonography at 7 to 14 days and again at 36 to 40 weeks’ postconceptual age.42
The MRI is the imaging study of choice for full-term infants with possible HIE. Diffusion-weighted imaging and magnetic resonance spectroscopy are improving the identification of full-term infants with acute ischemia who are at risk for HIE and subsequent cerebral palsy.33,36 Abnormalities of the thalamus and basal ganglia visible on MRI are highly predictive of subsequent neurodevelopmental problems, including cerebral palsy.38 The role of MRI in preterm infants is evolving. MRI, including diffusion-weighted imaging with attention to the myelination of the posterior limb of the internal capsule at 36 to 40 weeks’ postcenceptual age, may prove to be a valuable addition to cranial ultrasonography in the early detection of PVL and subsequently cerebral palsy. It is superior to cranial ultrasonography in the detection of diffuse PVL in preterm infants40 and may be helpful in evaluation of preterm infants with acute ischemia. The use of MRI diffusion tensor imaging to map white mater pathways and also to identify white matter injury in the neonatal period may be helpful.33 Computed tomography has limited utility in full-term and preterm neonates.40
INFANT AND TODDLER
The accurate identification of infants and toddlers with cerebral palsy depends on repeating examinations at different ages and evaluating the quality of movement patterns, in addition to assessing motor milestones and completing the traditional neurological examination. Important movement patterns include primitive reflexes, such as the asymmetrical tonic neck reflex, the tonic labyrinthine reflex-supine, and the neonatal positive support reflex, which disappear with maturation; and automatic reactions, such as truncal equilibrium responses and parachute responses that appear with increasing age. In addition, it is important to observe the motor patterns used to roll, come to sit, and pull to stand. A number of screening tests incorporate some or most of these items: the Alberta Infant Motor Scale,43,44 the Chandler Movement Assessment of Infants Screening Test,45 the Infant Motor Screen,46 the Milani Comparetti Motor Development Screening Test,47 and the Primitive Reflex Profile.48 Screening tests provide a structure for making accurate observations and can assist with referral decisions.
Other authors have emphasized making careful observations of the generalized movements of very young infants to improve the identification of cerebral palsy.49,50 This approach is based on the work of Heinz Prechtl and involves scoring the video recording of the movement of infants from a few weeks to several months of age. The age for fidgety movements (2 to 4 months) is reported to be the best age for making predictions.50 As with other methods, however, prediction of developmental outcomes are best made on the basis of a longitudinal series of assessments.50
A number of infants continue to present diagnostic challenges. Some preterm infants appear to have spasticity in their legs and a spastic diplegia pattern of cerebral palsy; however, these signs resolve after a year of age. In one study, only 118 of 229 children with a diagnosis of cerebral palsy at 1 year of age still had the diagnosis at 7 years.51 This pattern of development is called transient dystonia. A few infants with mild diplegia, hemiplegia, or extrapyramidal cerebral palsy may be “missed” when examined in the first year. Athetosis and ataxia may not develop until after a year of age. Finally, a few infants present with the signs of cerebral palsy but subsequently are shown to have a progressive disorder. All these issues underline the importance of repeating examinations at different ages.
Evaluation
The diagnostic evaluation of the child with suspected cerebral palsy is best done by an experienced neurodevelopmental team. The goals of the history and physical examination are to confirm the diagnosis, clarify the type and distribution of the neuromotor impairment, review causation and timing, identify associated health issues, and plan for additional evaluations as needed. The practice parameter on the diagnostic assessment of the child with cerebral palsy formulated by the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society recommends neuroimaging in all children with cerebral palsy if the etiology is not established and consideration of coagulation studies in children with hemiplegic cerebral palsy and unexplained hemorrhagic infarction.16 Routine metabolic and genetic studies and routine electroencephalography are not recommended. The MRI is the imaging study of choice. Children who do have central nervous system malformations may benefit from further genetic testing or evaluation. An example is the child with agenesis of the corpus callosum, spastic paraplegia, and mutations in the L1CAM gene.52 An accurate medical diagnosis helps clarify natural history and risk for associated problems such as seizures, helps identify potentially treatable conditions such as dopa-responsive dystonia, and helps identify progressive disorders such as ataxia-telangiectasia.
The practice parameter also recommends screening children for mental retardation, vision impairments, and hearing impairments and monitoring nutrition, growth, and swallowing dysfunction. The revised classification system for children with cerebral palsy5 also includes evaluation of attention and behavior and potential associated impairments: for example, gastrointestinal problems. Table 14-4 lists representative tools for the evaluation of speech and language, gross and fine motor skills, functional motor abilities, overall developmental progress, and attention and behavior. Children with speech and language delay should have formal audiological testing. The results of the diagnostic evaluation form the basis for the development of the initial management plan and may include recommendations for therapy services, as well as adaptive equipment. These are discussed in greater detail later in this chapter.
TABLE 14-4 Representative Instruments for the Developmental Assessment of Children with Cerebral Palsy
DIFFERENTIAL DIAGNOSIS
A number of different disorders may be confused with cerebral palsy, particularly on initial evaluation. These include other static disorders such as habitual toe walking; disorders that manifest neurological progression or deterioration, such as familial spastic paraplegia and ataxia telangiectasia; and potentially treatable disorders, such as dopa-responsive dystonia and glutaric acidemia. The diagnosis of habitual toe walking is one of exclusion.53 Parents of affected children typically report that the children have always walked on their toes. They have no evidence of spasticity, muscle weakness, or other neurological condition. They may or may not present with Achilles tendon contractures and may have a positive family history of toe walking.54 Clinicians may confuse habitual toe walking with mild spastic diplegia; however, electromyography helps differentiate the two in difficult cases.55
A positive family history of cerebral palsy should raise the question of familial or hereditary spastic paraplegia and the need for further genetic evaluation. Dopa-responsive dystonia is often initially misdiagnosed as cerebral palsy. It is an autosomal dominant genetic disorder (arising from mutation in the GCH-1 gene) that is characterized by diurnal variation in motor performance that responds dramatically to low doses of l-dopa.56,57
Management
The impairments of children with cerebral palsy include oral motor dysfunction, joint contractures, hip subluxation and dislocation, and spine changes (scoliosis, kyphosis, and lordosis). Functional problems include feeding dysfunction, delayed and disordered speech, limited independent mobility and written communication, and difficulty performing self-care activities. These impairments, as well as the functional problems of children with cerebral palsy, result from one or more of the following pathophysiological conditions: hypertonicity (spasticity and dystonia) and hypotonia; muscle weakness and easy fatigability; loss of selective motor control; impaired balance; and involuntary movement.
SPECIALIZED EVALUATIONS
Muscle Tone
Hypertonia may result from rigidity, spasticity, dystonia, or a combination of all.58 Hypertonia is defined as abnormally increased resistance to passive movement at a joint. Rigidity is typically not seen in children, and we do not further discuss it. Spasticity is the velocity-dependent increase in resistance to passive movement about a joint, so that resistance increases with increasing speed of the stretch.58 It can be measured with the Ashworth Scale,59 the Modified Ashworth Scale,60 and the Tardieu Scale.61 The Tardieu Scale specifically compares the occurrence of the “catch,” or exaggerated stretch reflex, at low and high speeds. Dystonia refers to involuntary sustained or intermittent muscle contractions that cause twisting or repetitive movement, abnormal postures, or both.58 Dystonia is typically exacerbated by voluntary movement, may vary with posture and type of attempted movement, and is often associated with athetosis. The severity of dystonia can be rated with Barry Albright Dystonia Scale.62 The differentiation of spasticity from dystonia is crucial for treatment planning.
Gait Analysis
The objective measurement of gait parameters in the laboratory has become an essential part of the evaluation for many children with cerebral palsy. Three-dimensional computerized gait analysis can assist with preoperative planning particularly for multilevel orthopedic surgery and can document changes before and after both surgical and nonsurgical treatments.63–67 The components of gait analysis include electromyographic analysis, videotaped assessment of kinematics (joint angles and velocities) and kinetics (joint movements, powers, and ground-reaction forces), force plate analysis, and, at times, oxygen consumption. Standard gait parameters include step and stride length, gait velocity, and cadence. The laboratory gait analysis complements the clinical evaluation of the child.63,68
Quality-of-Life Scales
Quality-of-life measures are particularly important for the families of children with severe cerebral palsy. For example, the treatment goals for a child classified as having level V cerebral palsy on the GMFCS who is receiving intrathecal baclofen therapy may focus on improvement in ease of care and sleep and decrease in pain and discomfort, rather than improvement in functional skills. Pain is a common experience for children and adults with cerebral palsy.69,70 Although there is increasing recognition of the importance of quality-of-life measures and the assessment of pain, there are significant limitations in current measures of quality of life and in health-related quality-of-life scales.71–73 The Child Health Questionnaire is one example of a quality-of-life measure.74–76 Several tools to assess health-related quality of life and pain in children with cerebral palsy are under development.34,72,77,78
Treatment
PHYSICAL AND OCCUPATIONAL THERAPY
The roles of the physical therapist and occupational therapist with children who have cerebral palsy and their families are broad. They provide direct treatment, participate in diagnostic evaluations, recommend braces and assistive devices, and provide training and support to children and caregivers. In general, the indications for physical and occupational therapy treatment services, including regular therapy during the preschool years and subsequent interval physical and occupational therapy services, are to improve strength, endurance, and speed; gait training, particularly with new orthoses or assistive devices; to assess when there is a change in motor skills or emerging skills such as independent walking; postoperative services, when a child is removed from casts after surgery; impending joint contractures; and other situations, such as prescription of a new brace or ambulatory aide.79
The evidence base to support the efficacy of physical and occupational therapy treatment, however, is limited.80,81 A systematic review of 21 studies, including 7 RCTs, by the Treatment Outcomes Committee of the American Academy for Cerebral Palsy and Developmental Medicine revealed no evidence to support the efficacy of neurodevelopmental treatment for young children with cerebral palsy.81 In addition, many treatment studies have provided low levels of evidence of efficacy (i.e., Sackett levels III to V).82 On the other hand, studies have reported the efficacy of physical therapy for muscle strengthening in children with cerebral palsy, including such functional improvements as increase in activity level.83–85 Other studies have reported the benefits of constraint induced therapy, a relatively new therapy for children with hemiplegia.86–89 In this therapy, the child’s unaffected arm is constrained in a cast or by another method, in order to force the child to use the affected hand and arm. The research studies, however, have varied with regard to the method and length of constraint used and outcome measures.
BRACES, ADAPTIVE EQUIPMENT, AND POSITIONING DEVICES
In general, clinicians prescribe lower and upper extremity braces (orthoses) to maintain normal alignment at a joint, prevent deformity, and improve function. There is regional variability in the type of orthoses prescribed for children with cerebral palsy. Unfortunately, the research evidence supporting one brace over another is limited; therefore, clinical experience primarily determines choice. There is considerable evidence documenting the efficacy of ankle-foot orthoses over barefoot walking on gait parameters of children with dynamic equinus.66,80,90–92 In addition, there is limited data on the efficacy of specific types of ankle-foot orthoses (posterior leaf spring, hinged vs. solid) in less impaired children91 and some support for functional improvement with these braces.93
Adaptive seating is crucial in some children with cerebral palsy (GMFCS levels IV and V) for improving function, including feeding and speech; for improving quality of life; for preventing progression of secondary problems such as scoliosis; and for offering an opportunity for safe, independent mobility. Unfortunately, the evidence to support the efficacy of adaptive seating for any of these indications is limited. Studies have documented the benefits of power-drive wheelchairs for children as young as 2 years, who have no other choices for independent mobility.94
TONE MANAGEMENT
Control of hypertonicity or tone management is a significant part of the treatment program for many children with cerebral palsy. Treatment approaches include oral medications, intramuscular injections with botulinum toxin, nerve blocks with phenol or alcohol, intrathecal baclofen, and SDR. Children with marked spasticity and or dystonia are likely to benefit from a combination of these treatments. Decisions are complex and require an experienced multidisciplinary team.95 One goal of early tone management is to prevent orthopedic complications such as flexion contractures in order to avoid the need for subsequent orthopedic surgical procedures. A population-based study from Sweden appears to confirm the appropriateness of this strategy. This study reported a reduction of orthopedic surgery for contracture or skeletal torsion deformity from 40% to 15% in children up to 8 years of age during an aggressive early tone management program.96
Oral Medications
Table 14-5 lists the common oral medications used for the treatment of spasticity and dystonia. These include baclofen, diazepam and other benzodiazepines, dantrolene, and tizanidine and other α2-adrenergic agents for spasticity and levodopa-carbidopa, trihexyphenidyl, and baclofen for dystonia.97 Side effects, including sedation, drowsiness, and weakness, have limited the modest benefits of oral medications. A systematic review of 12 RCTs of oral antispasticity medications concluded that the evidence of efficacy is scarce and weak.98 The authors could make no recommendations to guide clinical practice because of the low methodological quality of the studies, the limited numbers of patients, the short duration of followup, and the failure to include functional outcomes. In a small RCT in India, a single nighttime dose of diazepam significantly reduced tone and improved range of motion in children with cerebral palsy and thus may be of benefit in developing countries with little access to other treatments, such as botulinum toxin and intrathecal baclofen.99 A trial of levodopa-carbidopa is indicated in children with unexplained dystonia, because of the variability in the presentation of children with dopa-responsive dystonia.
TABLE 14-5 Oral Medications for Tone Management in Children with Cerebral Palsy
| Medication | Mechanism of Action |
|---|---|
| Spasticity | |
| Baclofen | GABA agonist |
| Benzodiazepines (diazepam, clonazepam) | GABA agonist |
| Dantrolene | Inhibits calcium release from muscle sarcoplasmic reticulum |
| α2-Adrenergic agonists (tizanidine, clonidine) | Decrease excitatory amino acids, hyperpolarize neurons |
| Gabapentin | Increase brain GABA levels |
| Dystonia | |
| Levodopa-carbidopa | Dopaminergic |
| Trihexyphenidyl | Anticholinergic |
GABA, γ-amino butyric acid.
Adapted from Krach L: Pharmacotherapy of spasticity: Oral medications and intrathecal baclofen. J Child Neurol 16:31-36, 2001.
Botulinum Toxin, Phenol, and Alcohol
Traditionally, phenol and alcohol have been injected into motor points or onto the motor nerves for the reduction of spasticity. These medications cause protein denaturation and axonal degeneration, have an onset of action of hours, and a duration of action of up to 12 months.100,101 Injections may be repeated. Treatment indications include improving the ease of care, improving gait, and treating pain secondary to spasticity. The technical expertise necessary for the procedure and the risk of chronic pain or paresthesia after the procedure limit their use.
Botulinum toxin has become the procedure of choice for neuromuscular blockade because of the ease of administration, low risk of side effects, and rapid onset of action. It interferes with the release of acetylcholine at the neuromuscular junction. The primary limitations to the use of botulinum toxin are the relatively short duration of action (up to 3 months after the initial injection) and the limited number of muscles that can receive injections at one time. Two serotypes (A and B) currently are available for clinical use, and they vary in dosage and duration of action. Consensus dosing guidelines are available.101 In individual studies, investigators have reported significant reduction in spasticity and functional improvement in both the upper and lower extremities. However, systematic reviews of use in the upper extremities and lower extremities have revealed insufficient evidence to support or refute its use.102,103 One group of authors recommends a cautious approach to the use of botulinum toxin injections because the data on long-term outcomes are limited.104
Intrathecal Baclofen
Baclofen is a GABA agonist, and its site of action is the spinal cord. It can be given intrathecally in small doses to maximize benefits with limited side effects. The effects of a single dose of intrathecal baclofen last only a few hours, and so it is given by a continuous-infusion pump. Since initial reports in the early 1990s,105,106 intrathecal baclofen has become widely used for the management of spasticity and dystonia. The Treatment Outcomes Committee of the American Academy for Cerebral Palsy and Developmental Medicine published the results of a systematic review of 14 studies, including one RCT in 2000.107 The review revealed evidence of decreased tone in upper and lower extremities, improved function of upper and lower extremities, improved ease of care and sleep, and decreased pain, as well as decreased truncal tone. Other studies have confirmed the benefits of intrathecal baclofen in children with both spasticity and dystonia.108–111 Despite concerns about the relationship of intrathecal baclofen to progression of hip subluxation and scoliosis and increase in seizures, studies have demonstrated no relationship between intrathecal baclofen and change in seizure frequency112 or hip status.113 Both intrathecal baclofen withdrawal and overdose can be life-threatening emergencies. Table 14-6 reviews the signs and symptoms of baclofen overdose and withdrawal.
TABLE 14-6 Signs and Symptoms of Baclofen Withdrawal and Overdose
| Baclofen Withdrawal | Baclofen Overdose |
|---|---|
Selective Dorsal Rhizotomy
SDR is a neurosurgical procedure for the treatment of spasticity that is not effective for dystonia. It involves severing the dorsal spinal rootlets from the levels of L2 to S1 or S2. However, the number of rootlets cut and other procedural issues has varied significantly from center to center.114 The ideal candidate for SDR appears to be a child who was born prematurely, has spastic diplegia, and is ambulatory with little or no truncal weakness. In the weeks after surgery, most children do manifest significant weakness, and maximum functional improvement does not occur until 6 to 12 months after the procedure. Three RCTs have demonstrated significant reductions in spasticity, and two revealed significant gains in functional skills as measured by the Gross Motor Function Measure, as did a subsequent meta-analysis.115–118
Functional changes after SDR persist over time.119 SDR does not change the need for orthopedic surgery, especially for older children,120 and SDR has no significant effect on the progression of hip subluxation.121 Studies have reported conflicting data on the presence and progression of spinal deformities after SDR.122,123 Of note, the number of children undergoing SDR has significantly fallen concomitantly with an increase in the number of children treated by intrathecal baclofen. There have been few available studies in which researchers compared SDR, intrathecal baclofen, or orthopedic interventions.
ORTHOPEDIC MANAGEMENT
The musculoskeletal problems of children with cerebral palsy include hip subluxation and dislocation, scoliosis and other spinal deformities, flexion contractures, foot and ankle deformities, hand and arm deformities, rotational deformities of the legs, leg length discrepancy, patella alta, osteopenia and fractures, joint pain, and hypertrophic ossification after surgery. Clinical gait abnormalities include the crouched gait and stiff knee gait. Orthopedic surgery is one of the treatment options for most of these issues. Orthopedic surgical procedures are either soft tissue surgical procedures, such as tendon and muscle releases, or bone surgical procedures, such as varus osteotomy of the femur or derotation osteotomy of the tibia. In general, orthopedic surgery is usually delayed until after 5 to 8 years of age, when all aspects of the deformity of the legs may be addressed at one time (multilevel surgery), unless structural issues necessitate earlier surgery to preserve function. For example, lengthening of the Achilles tendon before 8 years of age carries a higher risk for overcorrection,124 and surgery before age 5 years carries the risk of recurrence of the plantar flexion contracture. Traditionally, investigators of surgical outcomes have reported change in the deformity and range of motion but have rarely reported change in function or activity participation.
Hip Subluxation and Dislocation
A common problem for children with spastic diplegia and spastic quadriplegia is hip subluxation and dislocation. As many as 30% of adults with cerebral palsy and untreated hip dislocation have chronic hip pain.125 For this reason, monitoring of the hip status of young children with cerebral palsy is important for detecting progressive hip subluxation early and preventing dislocation and possible pain in the hip. Clinicians monitor children with plain radiographs of the hip, starting at about 18 months of age. The migration percentage, or the percentage of the femoral head that is uncovered by the acetabulum, is the principal measure of hip stability. In hips with a migration percentage of 40% or greater at the time of soft tissue surgery, the migration progresses,126 and in most hips with a preoperative migration percentage of less than 40%, the migration remains reduced. The initial surgical procedure is release of bilateral adductor tendons. Additional procedures may include varus osteotomies of the proximal femur and acetabular augmentation.
Scoliosis
Spinal deformity is a common problem in children with quadriplegia. Hip subluxation and dislocation with an asymmetrical sitting posture may contribute to progression of scoliosis. A spinal curve of 40% is likely to worsen and necessitate surgical stabilization.127 Surgical stabilization is with posterior or combined anterior and posterior instrumentation and fusion. In general, parents and caregivers are pleased with the results of surgery for children with cerebral palsy, particularly with improvement in quality of life and ease of care.128,129 The benefits of surgical stabilization of scoliosis in profoundly involved children, however, remain controversial.
ASSOCIATED PROBLEMS
Table 14-7 lists the associated health problems of children with cerebral palsy.
Adapted from Nickel R: Cerebral palsy. In Nickel RE, Desch LW, eds: The Physician’s Guide to Caring for Children with Disabilities and Chronic Conditions. Baltimore: Paul H. Brookes, 2000, p 146.
Osteopenia
Nonambulatory children with cerebral palsy are at risk for decreased bone mineral density, osteopenia, and recurrent fractures. In one study, 77% of 117 children with moderate and severe cerebral palsy had osteopenia (bone mineral density z-score ≤2 standard deviations), as did all of the participants who were unable to stand and older than 9 years.130 The severity of the cerebral palsy, poor nutritional status, and the use of anticonvulsants increase the risk for osteopenia. The osteopenia in children with cerebral palsy results from the slow rate of growth in bone mineralization and not from loss of bone mineral, as in elderly adults.131 Treatment consists of supplementation with vitamin D and calcium, standing programs,132 and, in rare cases, the use of bisphosphonates. In a small RCT, pamidronate increased bone mineral density by 89% in the experimental group, in comparison with only 9% in the controls.133 The authors noted no major adverse effects.
Oral Motor Dysfunction
Feeding problems are common in children with cerebral palsy and are highly correlated with indicators of poor health and nutrition.134,135 In a study of 3- to 12-year-old children with moderate and severe cerebral palsy, 38% had significantly reduced fat stores; however, standard weight-to-height ratios were poor indices for the reduced fat stores.136 Children with severe oral motor dysfunction may require enteral feeding to maintain adequate nutrition; however, limited information is available on the long-term benefits of gastrostomy feeding. In two systematic reviews, authors reported insufficient evidence for judging the effects of gastrostomy feedings in children with cerebral palsy.137,138 A prospective multicenter cohort study of 57 children with cerebral palsy did demonstrate significant weight gain at 6 and 12 months after gastrostomy placement, and almost all parents reported decreased time in feeding and fewer hospital days.139 The growth of children with cerebral palsy should be monitored with standard anthropomorphic measures, including length, weight, and body mass index; a measure of subcutaneous fat stores, such as the triceps skinfold; and alternative measures of linear growth, such as upper arm length and knee height, as needed.
Gastroesophageal Reflux
Gastroesophageal reflux is common in neurologically impaired children and is also associated with poor nutrition, oral motor dysfunction, and risk for aspiration. The symptoms of gastroesophageal reflux include recurrent vomiting or spitting up, choking and frequent swallowing during feeding, refusal of feedings or apparent early satiety, arching with feeding, torticollis (associated with esophagitis), recurrent respiratory symptoms, episodes of irritability, and frequent nighttime awakenings.140
Gastroesophageal reflux may be ameliorated with small, thickened feedings and careful positioning; however, children with persistent gastroesophageal reflux require medications to decrease gastric acidity, neutralize gastric acid, or increase intestinal motility. Infants with severe gastroesophageal reflux may require a Nissan fundoplication. Because of the risk for symptomatic gastroesophageal reflux, a current controversy is whether children who require placement of a gastrostomy for enteral feeding should undergo fundoplication at the same time. Placement of a percutaneous endoscopic gastrostomy does not appear to increase the risk for gastroesophageal reflux. In one study, 8% of children developed gastroesophageal reflux after percutaneous endoscopic gastrostomy, and it resolved in 38% of the children who had had gastroesophageal reflux preoperatively.141 Percutaneous endoscopic gastrostomy is becoming the gastrostomy of choice because of its low cost, ease of placement, and cosmetic advantage.142
Incontinence, Constipation, and Drooling
The age at successful toilet training is significantly delayed for the majority of children with cerebral palsy,143 and some children continue to have daytime urinary incontinence even though they have established independent bowel control. About one third of children with cerebral palsy have dysfunctional voiding.144 The primary issues are urgency incontinence and, to a lesser extent, hesitancy (i.e., difficulty initiating a urinary stream).144–146 Urodynamic findings include detrusor overactivity, detrusor-sphincter dyssynergia, and low bladder capacity.144 Treatment is individualized and primarily involves use of anticholinergic medications and, in rare cases, intermittent catheterization.
Gastrointestinal problems are common in children with cerebral palsy, and chronic constipation is the most frequent condition identified, with a prevalence of 70% to 90%.147,148 The factors that contribute to constipation include decreased mobility and activity, decreased fluid and fiber intake, difficulty positioning securely on the toilet, side effects of medications, and decreased colonic motility. In one study, all children with constipation and 70% of the children with cerebral palsy without constipation showed an abnormal colonic transit time in at least one segment of the colon.149 Steps in the treatment of chronic constipation and secondary impaction include reviewing positioning/seating for toileting, addressing behavioral issues, making dietary alterations, performing a “clean-out” program for children with impaction (enemas, oral stimulants, or polyethylene glycol), and beginning a daily maintenance program (supplemental fiber and fluid, mineral oil, sorbitol or lactulose, or polyethylene glycol).
Drooling in children with cerebral palsy results from oral motor dysfunction, not from overproduction of saliva.150 Persistent drooling can disrupt school and other day-to-day activities, cause chronic skin irritation, and interfere with social relationships. The treatment of drooling needs to be individualized and includes behavioral approaches, medications, injections of botulinum toxin, and surgical procedures. The goals of treatment are to improve the child’s quality of life and social functioning. Behavioral strategies typically are ineffective when the child is focusing attention on other activities such as schoolwork. The use of medications, botulinum toxin, and possible surgery is usually considered in school-aged children with persistent drooling. In general, anticholinergic medications are the initial treatment, with consideration of botulinum toxin injections and surgery for children who do not respond to medications or who have significant side effects.
Glycopyrrolate (Robinul) is a commonly used medication because it does not appear to have the central nervous system side effects of other anticholinergic medications. A number of studies have reported significant benefit from anticholinergic medications,151–153 including improvement in social functioning.154 However, side effects—primarily constipation, sedation, irritability, and, less frequently, blurred vision and urinary retention—are frequent. The use of intraglandular botulinum toxin injections is a relatively new intervention for drooling. Several studies have documented the effectiveness of these injections.155–157 However, dosage has varied across studies, and the effect persists for only a few months. A single clinical trial has been conducted to compare intraglandular botulinum toxin injections and scopolamine patches.156 The magnitude of response to botulinum toxin was much higher (42% reduction in flow vs. 25%). However, 95% of the children responded to scopolamine, whereas only 49% of the children responded to botulinum toxin. Surgical interventions have included salivary gland excision and salivary duct ligation or rerouting.158–160 There is no consensus on the most appropriate surgical procedure, and postoperative complications are significant. These have included dry mouth with thick saliva, increased caries and other dental problems, and worsening of oral motor skills.161 The data on the use of intraoral appliances to treat drooling are very limited.162
Seizures
In general, the prevalence of epilepsy in children with cerebral palsy varies markedly, depending on the anatomical type of cerebral palsy and whether cerebral palsy is associated with mental retardation. Epilepsy occurs in 20% to 40% of children with mental retardation and cerebral palsy.163 It is more common in children with quadriplegia and more difficult to treat.164 In children with cerebral palsy monitored in a neurology clinic, 60% of children with quadriplegia had intractable epilepsy, in comparison with 27.3% of children with hemiplegia and 16.7% of children with diplegia.165 Newer antiepileptic drugs, procedures such as vagal stimulation, and epilepsy surgery have significantly improved the management of children with cerebral palsy and epilepsy.
Pain
Pain is a significant and understudied problem of children and adults with cerebral palsy. In a study of 100 adults with cerebral palsy, 67 reported one or more chronic pain problems and 19 reported daily pain.166 Similarly, in a study of 43 families, 67% of parents reported that their children had pain within the previous month, and assisted stretching was the daily living activity most often associated with pain.167 In a separate study, 11% of parents with children with cerebral palsy and GMFCS levels III to V reported that their children had daily pain. The pain was correlated with the severity of the motor impairment and with school days missed.168 Assessment of pain in children with cerebral palsy can be difficult, because they may have associated communication or cognitive deficits. McKearnan and colleagues reviewed pain management in detail.69
COMPLEMENTARY AND ALTERNATIVE TREATMENTS
The use of complementary and alternative medicine (CAM) is frequent among children with chronic conditions and disabilities, including cerebral palsy (see Chapter 8E). Of families of children with chronic conditions who received care through a regional center in Arizona, 64% reported that their children used CAM.169 Seventy-six percent of families reported that their children used CAM if their condition was noncorrectable. Similarly, 56% of families attending a cerebral palsy clinic reported that their children used one or more CAM treatments.170 The children with quadriplegia who were nonambulatory used CAM the most often. The study reported massage therapy and aqua therapy as the most frequently used CAM treatments. Table 14-8 lists a number of CAM treatments used by children with cerebral palsy. Unfortunately, there are few rigorous scientific studies of CAM treatments for children with cerebral palsy. Collet and coworkers reported the results of a RCT on the use of hyperbaric oxygen in children with cerebral palsy.171 The researchers reported no significant differences between the experimental and control groups.
TABLE 14-8 Representative Complementary and Alternative Medicine Treatments Used by Families of Children with Cerebral Palsy
The responsibilities of the health care provider are to be familiar with CAM treatments and providers; to provide families with information on the efficacy, safety, and cost of all treatments; and to assist families with evaluation of the effects of a CAM treatment.172–174
DEVELOPMENTAL AND MENTAL HEALTH ISSUES
Table 14-9 lists the common developmental and mental health issues experienced by children with cerebral palsy. Many children have both a physical disability (cerebral palsy) and one or more developmental disabilities. For example, cerebral palsy may be present in association with attention-deficit/hyperactivity disorder and learning disabilities or with mental retardation. Children with cerebral palsy and mental retardation are more likely than those without these conditions to have seizures and other chronic health problems such as gastroesophageal reflux. Adolescents with cerebral palsy are more likely than their peers to report low self-esteem and to be more socially isolated. Although they rate having friends as very important, they have limited contact with friends outside of school and rarely participate in after-school community activities.175,176
TABLE 14-9 Common Developmental and Mental Health Issues in Children with Cerebral Palsy
LIFESPAN ISSUES
A minority of adults with cerebral palsy are fully employed.177,178 Some affected individuals lose the ability to walk, and many report a deterioration in walking ability.177,179 Many do not have access to health insurance and regular health surveillance, although they continue to have problems with neck, back, and joint pain, as well as drooling, dental hygiene issues, constipation, urinary tract infections, and other adult health care issues. The health-related quality of life and the successful participation of individuals with cerebral palsy in all aspects of life depend as much on the treatment of associated health conditions, the development of social skills, and competency in making their own health care decisions as they do on the presence and treatment of motor impairments. It is crucial to take a lifespan approach in working with persons with cerebral palsy to maximize their successful participation and overall quality of life. Preparation for the transition to adult health care, employment, and independent living must begin early in life by encouraging self-care, independence, participation in community activities typical for the child’s age, and the development of self-determination.
SPINA BIFIDA
Definition and Classification
There is limited agreement on how to classify myelomeningocele according to the anatomical or motor functional level of the defect. The relevance of the classification often has to do with the purpose of the study. All authors classify a thoracic defect as high level. Defects at level L1 and L2 are referred to as high lumbar. Most authors refer to defects at L4 and L5 as low lumbar. In some classifications, L3 is included with the high lumbar level; in others, with the low lumbar levels; in yet others it is grouped together with L4 defects to as midlumbar. Most authors agree on using sacral level as another categorical group. According to distribution based on level, approximately 10% to 20% of defects are thoracic, 15% to 20% are high lumbar, 26% to 37% are low lumbar, and 21% to 35% are sacral.180
Prevalence
In the United States, the current prevalence of myelomeningocele is 0.20 per 1000 live births. The prevalence of anencephaly is 0.09 per 1000 live birth.181 The increased awareness of the role of folic acid in reducing the risk of spina bifida has helped to reduce the risk of NTDs. In 1992, the U.S. Public Health Service recommended that women of childbearing age increase consumption of the vitamin folic acid to reduce spina bifida and anencephaly.181a Mandatory fortification of enriched cereal grain products with folic acid by the U.S. Food and Drug Administration began in January 1998. The prevalence of spina bifida decreased by 20% between 1991 and 2001. The prevalence of NTDs decreases from the eastern to western United States.182 The prevalence is lower among African Americans than in white people, and most studies find a higher risk in Hispanic/Latino families.183 A relatively higher prevalence of NTDs in low-income populations may be related to limited access to health care, as well environmental and dietary factors.
Etiology
A combination of multiple risk factors cause NTDs, including dietary, environmental, and genetic factors (Table 14-10).184 Detailed nutritional studies, as well as laboratory research, pointed to folic acid as a likely mediator. Randomized studies conducted in the late 1980s showed that extra intake of folic acid could reduce the risk of NTDs by 50% to 70%.185,186 In countries that enforced enrichment of flour with folic acid, the prevalence of NTDs has declined.183,187 There is also strong evidence for a genetic contribution to the risk of NTD. Prevalence is different among ethnic groups, even when they share a similar environment. In the United States, families of Irish origin have a higher risk of spina bifida, whereas African-American families have a lower risk.188 The recurrence risk is 2% to 4% after a mother has a single child with a NTD. After two affected pregnancies, the risk increases to 11%-15%.184 Studies have identified a variant form of methylenetetrahydrofolate dehydrogenase, 677C-T, as a risk factor for NTDs, but the prevalence of the genotype explains only a small portion of the protective effect of folic acid.189,190 Researchers have found an association of homeobox genes (PAX, PRX, HOX) with NTDs in animals and in some patients.191–194 The understanding of the genetic factors is expected to increase in the near future.
| Risk Factor | Evidence of Risk |
|---|---|
| Nutritional |
Other known risk factors during pregnancy include high fever, valproic acid, carbamazepine, exposure to high doses of vitamin A, maternal diabetes, and obesity.184,195–198 Chromosomal abnormalities, such as trisomies 13 and 18, and a number of other syndromes can manifest with spina bifida.
Evaluation
Currently, screening of pregnant women includes a triple marker screen (α-fetoprotein combined with human chorionic gonadotropin and unconjugated estriol). Routine screening is done ideally between the 15th and 18th weeks of gestation.199 Early diagnosis of open spina bifida or anencephaly can be suspected if the maternal α-fetoprotein level is increased. α-Fetoprotein levels change significantly with gestational age, and the most frequent reason for elevated levels is incorrect dating of the pregnancy. Twin pregnancy can also elevate the α-fetoprotein level. If the level is high, high-resolution ultrasonography should be performed. This study can help to identify other associated abnormalities, such as hydrocephalus, Chiari malformation, and abnormalities of the spine. American College of Obstetricians and Gynecologists guidelines recommend amniocentesis if α-fetoprotein level is high.199a High levels of α-fetoprotein and acetylcholinesterase in amniotic fluid can confirm the diagnosis of NTD. Chromosome analysis should rule out chromosomal abnormalities and aid in prenatal counseling. Routine ultrasonography can detect NTD. Analysis of fetal movements by ultrasonography is not predictive of future function, although the level of the defect is somewhat predictive.200,201 If the spinal defect is located at the thoracic level, it is very likely that the child will have very limited or no movements in the lower extremities. Children with sacral defects have good prognosis for ambulation in most cases. When the defect is in the lumbar area, it is more difficult to determine the prognosis, because one vertebra level higher or one level lower can mean the difference between functional ambulation or no ambulation. MRI may provide a more detailed evaluation of the defect and associated malformations, although it is not recommended as a standard evaluation during pregnancy. In general, surgery for open spina bifida in the fetus has not been effective. Fetal surgery of the spinal defect does appear to reduce the prevalence of hydrocephalus, with no changes in the sensorimotor function.202,203 Investigators are currently evaluating the risk : benefit ratio of a surgery that necessitates two cesarean sections in less than 3 months and the risk of prematurity.204 Fetal surgery to treat hydrocephalus has not yielded satisfactory results. Whenever possible, the delivery of a fetus identified with myelomeningocele should be in a tertiary care center with a readily available experienced team. The benefit of cesarean section over vaginal delivery is controversial.205–207 Once the diagnosis is made, a clinician experienced in myelomeningocele should provide counseling to the family.
Management
INITIAL CARE
After birth and stabilization of cardiopulmonary function, a careful examination should be performed. Sterile gauze should cover the defect, with saline solution to keep it moist. If the child requires placement in the supine position, a donut of sterile gauze may protect the defect. Avoidance of trauma to the sac is important. If the sac is open, it must be closed immediately. When the defect is intact and covered by skin, it can be closed days or weeks later. Initial assessment should include a complete neurological examination. This examination may help predict future motor function, although patients may have temporary loss of movements after the trauma of the spinal cord surgery or may have movements that originate at a spinal level and are not under the control of the cortex. This examination should include the observation of movements in upper and lower extremities and the use of pinpricks to evaluate sensation. The skeletal examination may reveal orthopedic malformations in the spine and lower extremities. These defects are frequent and are the result of the lack of innervations of some groups of muscles. Chromosome analysis and genetic consultation should be performed if the child has other physical abnormalities not related to the defect. Fluorescent in situ hybridization 22q11 analysis is indicated in children with cardiac malformations, cleft palate, or DiGeorge syndrome.208,209 Head ultrasonography or computed tomography should be performed to evaluate for the presence of Arnold-Chiari malformation and hydrocephalus. Daily head circumference measurements should be performed to monitor for the presence of hydrocephalus, the response to shunt insertion, and early detection of shunt malfunction. Symptoms related to Arnold-Chiari malformation, such as feeding or swallowing difficulties or apnea, require special attention. Children may present with early symptoms of neurogenic bladder. The monitoring of urinary output, physical examination to detect bladder distention, and measurement of renal function with creatinine and blood urea nitrogen are important, as is consultation with the urology department. Initial evaluation must include vesicoureterography and renal ultrasonography.210,211 Some urologists advocate the use of urodynamics in the initial evaluation.212 However, spinal cord surgery can temporarily affect bladder dynamics. Monitoring of bowel movements and stool characteristics should include instruction of parents on the risk of constipation. The high prevalence of congenital cardiac defects among children with myelomeningocele suggests the need for echocardiography before discharge.213
INTERDISCIPLINARY CARE
The number and complexity of health issues that require attention underscore the need for a coordinated, multidisciplinary team. Table 14-11 suggests the types of professionals in the team caring for a child with myelomeningocele, as well as main areas of concern. These issues will affect the children at different ages. Neurosurgeons address issues such as closure of the defect and hydrocephalus during the neonatal period. Hydronephrosis necessitates urgent treatment, whereas treatment of urine and bowel incontinence can be deferred until the preschool years. Orthopedic problems rarely necessitate urgent attention, although clubfoot may necessitate early treatment. Control and treatment of joint problems and scoliosis require ongoing followup. Developmental issues may arise at any age. Although severe developmental delay necessitates attention in infants, mild learning problems may not become apparent until adolescence.
TABLE 14-11 Multidisciplinary Participation in Care of Children with Myelomeningocele
| Discipline | Clinical Focus |
|---|---|
| Neurosurgery |
MOTOR FUNCTION
The strength of the movements in the lower extremities allows estimation of the child’s functional level (Table 14-12). Patients with thoracic-level defects have no controlled movements of the lower extremities, and their prognosis for independent ambulation is poor. They may be able to stand with the use of orthoses (parapodium; parawalker) and move with the use of a walker or crutches. Between 5% and 20% of such children may demonstrate household ambulation.180,214 Children with high lumbar motor function of L1, L2, and some L3 have some movements of the hips. The children can ambulate with the use of orthoses: a high-level orthosis, a reciprocating-gait orthosis, or a hip-knee-ankle-foot orthosis. These children need the support of a walker or crutches, and most use a wheelchair for long-distance ambulation. Ambulation is achieved in 52% to 67% of patients with high lumbar or midlumbar defects.180,214,215 The benefit of intensive treatment to achieve ambulation in children with high-level defects is controversial, because older children prefer to use a wheelchair.216,217 Children with L4 motor level defects need low-level braces, either a knee-ankle-foot orthosis or an ankle-foot orthosis, to support their feet; they may later need a wheelchair for long-distance and independent mobility. Children with an L5 motor level defect are functionally independent in most cases, requiring only low-level braces (ankle-foot orthoses). Children with low lumbar defects have a good prognosis; 85% to 95% are able to ambulate.180,214 Children with sacral defects may have weakness of the intrinsic muscles of the feet and have no limitations on ambulation. Motor function can deteriorate with worsening of orthopedic problems, such as scoliosis or contractures, or with neurological injuries caused by shunt complications, such as tethered cord or spasticity.218,219 In a study of 35 adults with sacral defects who had been community ambulators, Brinker and associates found a decline in the ability to walk in 30% of the patients, with 11% of the 35 subjects becoming nonambulators and 13% household ambulators.220
Treatment
PRINCIPLES IN MOTOR MANAGEMENT
The main goal for motor management is to maximize functional abilities. Independent ambulation and self-care are the primary objectives. To achieve these goals, the patient requires good range of motion and an appropriate posture and may need walking aids or a wheelchair. Maintaining range of motion mandates lifelong attention. The appropriate posture depends on the functional level of the myelomeningocele and appropriate orthosis (Table 14-13). Ideally, the treatment plan follows normal developmental stages: upright position, standing, and ambulation. The use of parapodium or standers in children at 12 months with high lumbar and thoracic defects can help achieve a standing posture. Around 2 or 3 years of age, children with high lumbar defects require a high-level orthosis and gait training in order to obtain independent ambulation. The use of a wheelchair provides independent mobility. Periodic physical therapy and occupational therapy assessments should be part of the treatment of all the children with myelomeningocele. Range of motion, muscle strength, and function should be assessed. The provision of regular physical and occupational therapy evaluations of children with myelomeningocele should begin in infancy. Therapy goals include maintenance or improvement of joint range of motion; selection of an appropriate orthosis and assistive devices; monitoring strength and coordination of the upper extremities; training on ambulation and transfers in and out of a wheelchair; selection of an appropriate wheelchair and seating devices; and assisting the family and the patient in solving activities of daily living, such as bathing, toileting, and driving. Periodic assessments must guide treatment and also detect change in function, because multiple neurological and orthopedic complications can negatively affect motor function.
| Condition | Indications | Treatment |
|---|---|---|
| Scoliosis |
ORTHOPEDIC MANAGEMENT
Scoliosis is caused by an imbalance of muscle strength and spine malformations. It is a frequent problem, affecting about 47% to 70% of children with myelomeningocele.221–223 The frequency of scoliosis varies with the level of the spinal defect. It can be as high as 94% among children with thoracic defects and as low as 5% among children with sacral defects.224,225 Once the curvature in scoliosis is greater than 40 degrees, it tends to progress and necessitates surgical treatment. Rapid progression of scoliosis can be a symptom of tethered cord.
Children with thoracic or high lumbar motor function often develop hip dislocation as the strength of the iliopsoas muscle is unopposed. The risk for hip dislocation is 60% to 70% with thoracic defects, 75 to 85% with high lumbar defects, 25% with low lumbar defects, and 3% with sacral defects.214 Children with a poor prognosis for ambulation and no pain do not require surgery.226 Muscle transfer of the iliopsoas or adductors can stabilize the hip and prevent further migration.227,228 Surgical treatment for hip dislocation has yielded mixed results.226 Careful evaluation of the gait pattern, functional abilities, and resources is indicated before surgery. In addition, patients often develop joint contractures as a result of decreased mobility.229 Treatment of contractures is based on the extent that they impair the child’s functioning or interfere with caring for the child.
Some newborns with myelomeningocele have foot malformations related to the level of the defect and muscle innervations.230 Children with sacral defects may have clawed toes and flat feet; those with paralysis below L5 may have calcaneous foot; those with defect below L4 may have equinovarus foot; and those with higher level defects may also have equinovarus.231,232 Nonambulatory children may require surgery to facilitate care and use of shoes. Surgical treatment during infancy carries a high risk of recurrence of the malformation.231
OSTEOPOROSIS MANAGEMENT
Patients with myelomeningocele have decreased bone mineral density, and 22% to 40% develop fractures as a result of osteoporosis.233–237 Although lack of weight bearing can explain osteoporosis in the lower extremities, the etiology of the osteoporosis is not yet understood. For example, investigations of the radial bone revealed significantly lower values of bone density in children with myelomeningocele that are not explained by lack of use.234 Children who are placed in standing position have less osteoporosis and a decreased risk for fractures.238,239 The measurement of bone mineral density can help to identify the patients at greatest risk for multiple fractures. Treatment with oral bisphosphonates can decrease osteoporosis and apparently reduces the incidence of fractures in patients with myelomeningocele.240
NEUROGENIC BLADDER MANAGEMENT
Ureteral Reflux and Hydronephrosis Management
The causes of increased pressure in the bladder include increased activity of the bladder, hypertonic sphincter, and uninhibited contractions of the bladder and sphincter. This increased pressure results in vesicoureteral reflux in 20% of the patients with myelomeningocele. Hydronephrosis occurs in 7% to 30% of such infants. The hyperactivity of the bladder results in poor compliance of the bladder, which can worsen during the first months of life. Between 32% and 45% of children with myelomeningocele and initial normal bladder pressures have abnormal pressures at older ages.241,242 Therefore, normal findings of a urodynamic study after birth do not ensure normal bladder function, and such children require longitudinal monitoring. Most centers conduct periodic evaluations with renal ultrasonography, voiding cystourethrography, and/or urodynamic tests.243 Early treatment of hydronephrosis prevents renal damage. The standard intervention is the use of clean intermittent catheterization (CIC). Some experts advocate starting with CIC in the neonatal period in all children, arguing that they will ultimately require CIC for social continence and an early start will facilitate compliance. The use of anticholinergic medication will increase bladder capacity and decrease hyperactivity of the detrusor. Intravesical instillation of oxybutynin can avoid systemic effects from the medication.244,245 Vesicostomy can be done as a temporary surgery when medical treatment fails.246 Vesicoureteral reflux may resolve after reducing the bladder pressure, although it often requires surgical intervention.
Urinary Infections Management
Incomplete emptying of the bladder and/or ureters results in increased risk for urinary infections. Periodic emptying with CIC helps to reduce the risk of infections. In patients with recurrent urinary tract infections (UTI), the use of prophylactic antibiotics by mouth or by local instillation can help to reduce the number of infections. Detection of UTI can be challenging since abnormal urinalysis with increased white cell or bacteriuria is common in children using CIC. The use of nitrite and leukocyte esterase chemstrip can help as screening tests.247,248 Most centers treat bacteriuria only if the child has other clinical signs or symptoms (fever, dysuria, flank pain, changes in the urinary pattern).243
Social Continence Management
A combination of lack or limited sensation from the bladder, lack of voluntary control of the sphincter and bladder, hypertonic bladder, and/or hypotonic sphincter causes incontinence. Most children with myelomeningocele require an active treatment for social continence. Urinary incontinence can decrease social integration and self perception of subjects with myelomeningocele.249–251 Medical management is usually a combination of CIC and anticholinergic medication. α-Adrenergic agonist medication can help to improve continence when the internal sphincter is hypotonic. About 50% of the children can obtain social continence with medical management.252 Catheterizations should be sufficiently frequent to avoid accidents. Bladder augmentation can increase the bladder capacity when medical treatment fails. This procedure can assist the older child who has a well-established catheterization program, but is unable to obtain continence due to the low volume of the bladder. Augmentation uses a flap obtained from the colon, ileum, or stomach, or by detrusor myotomy to increase bladder volume. Stone formation due to mucous secretion is a frequent complication (18% to 48%) when augmentation is done with colon.253,254 Metabolic acidosis can occur in some children after augmentation.236,255 The use of a ureter for augmentation appears to solve some of the problems from other augmentation techniques.256–258 For patients with weak sphincter, other surgical procedures may be helpful, including the implantation of an artificial sphincter, bladder neck wrap with muscle (sling procedure), or the injection of bulking agents around the neck.259–261 There is no agreement on which procedure has a better outcome. Ileal conduit urinary diversion, a frequent treatment in the past, is now rarely done because of the high number of complications.262,263 If the child is unable to perform self catheterization due to anatomical impairments, a urinary diversion using the appendix (Mitrofanoff procedure) or a tubularization of ileum or sigmoid can be effective in achieving independent continence.264,265 The patient or a caregiver performs catheterizations through a stoma.
Hydronephrosis, chronic pyelonephritis, and associated malformations can affect renal function.266 Approximately 40% of older children and adults with these malformations have abnormal renal function.266,267 Renal transplantation has been successful after renal failure.268,269
NEUROGENIC BOWEL MANAGEMENT
Constipation
Constipation can manifest early in life and necessitates active treatment in most patients with myelomeningocele. When constipation is present, the treatment must be proactive, not delayed until the child has missed a bowel movement or stools for several days. Treatment includes a diet high in fiber and sufficient fluid intake. When the child’s diet has insufficient fiber, it can be added to foods. Clinicians can recommend the use of foods with natural laxative effect, such as prunes, on a routine basis. Some children need laxatives such as polyethylene glycol, bisacodyl, or senna. Bowel training with timed toileting on a daily basis can be effective in achieving continence in cooperative patients who have no constipation and have sufficient abdominal muscles strength. Some patients may require digital stimulation of the rectum to initiate the defecation reflex. Some patients require routine use of suppositories and enemas. The antegrade continence enema procedure may be effective for patients with recalcitrant constipation. The original description by Malone and colleagues consists of a nonrefluxing channel in which the appendix is used to produce a catheterizable colonic stoma.270 If the appendix is not available, options include retubularization of the sigmoid or ileum or a standard gastrostomy button placed in the cecum.265,271,272 A few patients with myelomeningocele have an overactive colon, which results in loose stools and incontinence that is difficult to manage. The antisecretory and antimotility agent loperamide can be helpful for some of these patients. The child and family require an individualized bowel program. Although a systematic approach and a family commitment are keys to a bowel program, they do not guarantee success.
SENSORY FUNCTION AND ITS MANAGEMENT
Children with myelomeningocele lack sensation for touch, pressure, pain, and temperature below the defect. This lack of sensation can be asymmetrical and may not be at the same level as the lack of motor function. Figure 14-1 depicts the dermatomes or areas of the skin supplied by sensory fibers of single posterior spinal roots.
FIGURE 14-1 Dermatomes.
(Data from Foerster A, Haymaker W, Woodhall B: Peripheral Nerve Injury, 2nd ed. Philadelphia: WB Saunders, 1953.)
Pinprick examination can be used periodically to assess the sensory level. Spinal cord complications, such as tethered cord or syringomyelia, can produce loss of sensation, and the confirmation by physical examination can help with diagnosis and treatment decisions. During the sensory examination, the examiner should carefully watch the motor response of the infant. It is important to prevent older children from seeing the pinprick, because they often report positive sensation, even in areas with proven anesthesia. Lack of sensation can result in pressure sores or injuries. In one study, McDonnell found that 35% of adults with myelomeningocele had pressure sores. The location of ulcers and pressure sores varies with the ambulatory status of the child. Children who ambulate in wheelchairs tend to have pressure sores in the gluteal area, whereas those who ambulate upright develop ulcers in the lower extremities.217 In one study, 15% of adults with sacral motor defects lost their ability to ambulate because of complications from skin infections.220 Children do not complain about lack of sensation. From an early age, parents must learn regular care of skin to prevent injuries produced by pressure, cold temperatures, hot temperatures, and friction. Checking the skin daily is important. Older children must learn self-examination. It is critical that patients be instructed to wear new braces and shoes for a very short period, around 20 minutes, and then inspect the skin. Once sores develop, they can take several weeks to heal. In certain situations, patients may require surgical procedures to correct pressure sores.273,274 An estimated $2 million was the cost of the care of patients admitted for treatment of pressure sores in a single institution during a 13-year period.275
NEUROLOGICAL/NEUROSURGICAL MANAGEMENT
Arnold-Chiari Malformation
Arnold-Chiari type II malformation consists of herniation of the tonsils and the contents of the posterior fossa into the foramen magnum. This herniation involves the brainstem, fourth ventricle, and cerebellar vermis. About 5% to 10% of the children with spina bifida present with symptoms related to compression of the brainstem caused by the Arnold-Chiari malformation.276 Anatomopathology studies have demonstrated that compression of the brainstem results in ischemia and hemorrhages, although in some cases, abnormal anatomical findings suggest a developmental anomaly in the brainstem.277 Symptoms include stridor, dysphagia, weakness in the upper extremities, ataxia, and nystagmus.277–279 Mortality is high among patients with abnormal respiratory function that necessitates tracheotomy.277 Shunt evaluation is essential before surgery for posterior fossa decompression is considered.
Some neurosurgeons recommend posterior fossa decompression on an emergency basis as soon the patient shows any symptoms of Arnold-Chiari malformation.280,281 Patients with posterior fossa compression also may require placement of tracheostomy, ventilatory assistance, and gastrostomy. Symptomatic Arnold-Chiari malformation is the most common cause of death in children with spina bifida.
Hydrocephalus
About 85% of children with open spina bifida have hydrocephalus. The treatment is a ventricular shunt, which a neurosurgeon typically places a few days after the child’s birth or simultaneously during the closure of the back during the first surgery. The presence of hydrocephalus is not predictive of future cognitive function except in severe cases, although the accumulation of shunt problems and/or infections increases the risk for cognitive limitations.282 If the shunt is obstructed, the patient often exhibits the classic symptoms of increased intracranial pressure: bulging fontanelle in infants and lethargy, headaches, and vomiting in older children. A shunt can sometimes fail without obvious symptoms, and this failure can manifest with occasional morning headaches or the patient’s awakening with headaches during the night, having occasional morning vomiting, or displaying changes in behavior or learning. Failure occurs in 45% to 60% of placed shunts.283,284 Failure of the shunt can be caused by obstruction (70% to 80%) or infection (20% to 30%).285 Shunt infection rates vary among centers and range from 0% to as high as 15%.283 The shunt has fewer complications when it is placed at the time of the myelomeningocele repair.284 Shunt infection is rare after 6 months of the shunt placement or revision.286 Ventriculoatrial shunts are currently present only in adult patients or patients with intra-abdominal complications that necessitate the removal of a peritoneal shunt. Ventriculoatrial shunts have more complications, including thrombosis of the superior vena cava, pulmonary hypertension, and endocarditis.287,288 Patients with ventriculoatrial shunts require prophylaxis for bacterial endocarditis. Annual monitoring is necessary for patients with hydrocephalus, because shunts can fail after several years of normal function or hydrocephalus can decompensate after many years in patients with stable, nonfunctional (i.e., disconnected) shunts.289,290
Tethered Cord
In patients with myelomeningocele, tethered cord can manifest with progressive scoliosis, back pain, changes in bowel or bladder function, increased spasticity, or loss of motor or sensory function.291 The stretching of the spinal cord produces symptoms resulting from impaired oxidative metabolism on the stretched segments of the spinal cord. Spine MRI demonstrates that almost all patients with myelomeningocele have the end of the spinal cord below L2. For this reason, the low setting of the conus medullaris is not diagnostic of tethered cord.292,293 Tethered cord is a common complication in children with spina bifida (15% to 25%). Periodic evaluation of motor and sensory function and evaluation of the spine can facilitate diagnosis. Children with high-level defects present with tethered cord at younger ages, usually before 6 years of age, whereas diagnosis is often later for children with lower level defects.294 Surgical release is effective in reducing symptoms or stopping the progression in 47% to 80% of cases, and results are better when surgery is performed soon after presentation.291,295,296
Syringomyelia
Asymptomatic hydromelia or syringomyelia is found in 50% of spine MRI scans in children with myelomeningocele. On occasion, the syrinx becomes symptomatic, and patients present with complex upper limb weakness and wasting, sensory disturbance, dysphagia, or ataxia.297 Worsening of symptoms should first prompt a careful evaluation of shunt function. Symptoms and radiological findings often improve after shunt revision. Sometimes, the release of tethered cord or posterior fossa decompression can improve the symptoms and resolve the hydromelia. Some patients require shunting of the syrinx to the subarachnoid space, the pleural space, or to the peritoneum.298,299
Seizures
About 16% to 20% of children with myelomeningocele have seizures at some time.300–302 The number of shunt revisions and additional brain anomalies are associated with increased risk for seizures.300,302 Seizures respond well to medication, and 75% of children with seizures can later discontinue treatment.301 Seizures can be the first symptom of central nervous system complications such as infection, bleeding, or shunt malfunction. Chronic headaches affect 55% to 88% of patients with myelomeningocele and may not be caused by shunt malfunction or complications of Arnold-Chiari malformations.303,304
GROWTH AND NUTRITION MANAGEMENT
Evaluation of linear growth in children with spina bifida requires the use of alternative measurements. Poor growth in the lower extremities, contractures, and scoliosis make the measurement of length or height an inaccurate estimate of linear growth. The measurement of arm span is a good alternative. Clinicians may use an arm span growth chart or plot the arm span on a growth chart of height or length. The latter method is less accurate but readily available.305–307 Periodic measurement of arm span helps identify endocrine disorders such as growth hormone deficiency or hypothyroidism.308 The use of weight, height for weight, or body mass index measures are poor indicators of nutritional status, inasmuch as the body proportions are different for children with different levels of myelomeningocele. The use of other measurements such as arm circumference and skin fold can provide a better estimation of nutrition.309–311 Feeding problems in infants with Arnold-Chiari type II symptoms may necessitate gastrostomy tube placement to maintain nutrition or prevent pulmonary aspiration.312,313,221 These children may have a sensitive gag reflex with intolerance to food with texture.
Obesity
Investigators recognized obesity309,314 as another health problem in myelomeningocele since the early 1970s. The risk for obesity has many contributing factors. Children with myelomeningocele require less energy than normal, particularly if they are nonambulatory.315–318 Social isolation and decreased physical activity increase the risk. Sometimes, medical complications such as pressure sores or surgical procedures cause children to decrease their activity further. In children with myelomeningocele, excessive weight has serious consequences. Obesity can result in the loss of their ability to ambulate. In severe cases, obesity may impair the ability to perform such daily life activities as self-catheterization or toileting. In older teenagers and adults, it jeopardizes their independence, as they may need help with transfers from the wheelchair to the bed or toilet. Pediatricians and parents should monitor the child’s weight from infancy, and they should implement treatment as soon as the child is overweight.
Growth Hormone Deficiency
Children with spina bifida and hydrocephalus have increased risk for endocrinological disorders. Researchers estimate the prevalence of growth hormone deficiency to be between 11% and 18%.319 Clinicians should suspect growth hormone deficiency when the arm span is below the third percentile on the growth chart. Routine evaluation of short children with insulin-like growth factor 1 and insulin-like growth factor binding protein 3 can help with early diagnosis.319 Children treated with growth hormone show a response similar to that of children with idiopathic growth hormone deficiency.308,320,321 With treatment, growth velocity and final height can be close to that expected for age.322 Treatment of growth hormone deficiency can precipitate symptoms of tethered cord; therefore, children require frequent monitoring during treatment.323 Hyperthyroidism has a prevalence of about 3%.324
Precocious Puberty
The prevalence of precocious puberty in children with myelomeningocele is 6% to 18%.324–327 Children with both hydrocephalus and myelomeningocele start puberty 2 years before their peers. Careful genital examination and breast examination during the prepubertal years can assist in early diagnosis and treatment. Untreated precocious puberty can lead to short stature, particularly in women.328
REPRODUCTION AND SEXUAL FUNCTION
Women with myelomeningocele appear to have normal fertility. Information about the risk in individuals with myelomeningocele of having a child with NTD is limited. In one study, investigators examined the outcome of 39 pregnancies from 11 men and 11 women with spina bifida. Four offspring had NTD (two with anencephaly and two with open spina bifida).329 Results should be interpreted cautiously, because most patients in 1975 with open spina bifida had a poor prognosis for survival. Other reported risks among pregnant women with myelomeningocele include urinary tract infections, constipation, decreased mobility, and decubitus. Cesarean section can be more challenging in women with bladder augmentation, ileal conduit, or ventriculoperitoneal shunt.
Sexual Function
Information regarding sexual function and reproduction is scant.329a–329d In general, patients with lower spinal defects have better outcomes. Although the percentage of adults reporting sexual activity is relatively high, study subjects are not representative of all patients with myelomeningocele. In a study by Sandler and associates, who used an objective measurement of penile rigidity, 11 of 15 young men reported erections, whereas objective documentation showed normal erections in only 2 subjects (who had sacral defects), brief and incomplete erections in 7 other subjects, and no response in 6. In this study, patients with lower motor and sensory defects had better outcomes.330 Erection dysfunction can respond to sildenafil.331
CARDIOVASCULAR SYSTEM
The risk for congenital cardiovascular defects is higher in children with myelomeningocele than in a normal population. Ritter and coworkers, in a retrospective study of 105 children who underwent echocardiography before surgery, found that 37% had a cardiac malformation. In their sample, 25% had a secundum atrial septal defect, 9% had ventricular septal defect, and almost 5% had other defects (anomalous pulmonary venous return, tetralogy of Fallot, bicuspid aortic valve, coarctation, and hypoplastic left heart syndrome).213 Kidney damage from repeated pyelonephritis, nephrolithiasis, and hydronephrosis can result in hypertension and/or renal insufficiency.332 In a study of adults with myelomeningocele, 14% had hypertension; 46% had abnormal kidneys as a result of scarring, hydronephrosis, or nephrolithiasis; and 3% had renal failure that necessitated dialysis or kidney transplantation.333 Blood pressure and renal function should be monitored in all patients with myelomeningocele. Patients with ventriculoatrial shunts have an increased risk for pulmonary hypertension. The cause of the pulmonary hypertension may be microembolism from the catheter or an immunological reaction of the pulmonary vessels to proteins from the cerebrospinal fluid.334,335
COGNITIVE AND DEVELOPMENTAL OUTCOME
In general, cognitive function is often poorer for children with high spinal lesions than in those with lower lesions. The prevalence of mental retardation is close to 40% in subjects with thoracic lesions but much lower in the population with sacral lesions. The larger number of brain malformations in children with higher defects mediates the association between level of the lesion and cognitive function.336,337 In the typical cognitive profile of patients with hydrocephalus, verbal skills are better than nonverbal skills.338–340 “Cocktail party syndrome” describes some children with an exaggerated profile of nonverbal learning disability, with verbal expression that significantly exceeds cognitive skills. These children tend to be very friendly, characteristically make inappropriate comments, and appear to understand more than they really do. In clinical practice, it is important to objectively verify verbal comprehension of recommendations or explanations. The interaction between cognitive function and long-term outcome is complex. Low cognitive function is the most significant factor limiting independence.282,341 However, reported quality of life and self-esteem are more closely associated with bowel and bladder functioning.
Attention-deficit/hyperactivity disorder is another frequent diagnosis. The prevalence varies between 34% and 39%.337,342 Response to stimulant medication in children with spina bifida is similar to that in other children with this disorder. Cognitive or behavioral deterioration can occur after central nervous system infections or with chronic shunt malfunction.343 It is therefore important to perform periodic neuropsychological evaluations.
OPHTHALMOLOGICAL ISSUES
Eye motor coordination disorders are very frequent. Strabismus occurs in 42% to 44% of children with spinal lesions; most of these have convergent esotropia.344,345 Optic disc abnormalities, such as papilledema or disc atrophy, occur in 32%. In one study, only 27% of 322 children with myelomeningocele had normal results of eye examinations.344 Not surprisingly, there is a correlation between the degree of mesencephalic abnormalities and problems with eye motor coordination.346,347 The sudden appearance of strabismus, other ocular motility disorders, or papilledema is usually a manifestation of uncontrolled hydrocephalus. Children with myelomeningocele require regular ophthalmological evaluations.
LATEX ALLERGY
Allergy to latex can be a life-threatening condition for some patients with myelomeningocele. It was recognized as a common problem in the early 1990s, after some patients suffered anaphylactic shock during surgery.348,349 The reported prevalence varies, depending on the criteria used to identify patients with allergy. Researchers have reported different prevalence rates of sensitized children with latex allergy, such as 32% to 55% and 15% to 34%.350–352 The clinical manifestation may include redness after contact with objects made from rubber, such as balloons or gloves. Pinprick testing or specific immunoglobulin E or radioallergosorbent testing can help identify asymptomatic children with latex sensitivity. The number of surgical procedures is the major risk factor for latex allergy, along with a personal and family history of atopy.353–355 Because it is important to prevent all contacts with latex products, patients who have had allergic reactions should wear an alert bracelet and carry epinephrine. Patients should be aware of cross-sensitization with fruits from trees, such as kiwi, avocado, and banana.356 Most clinical centers currently avoid the use of latex in the operating rooms and clinics. Avoiding exposure to latex starting with the first surgery may decrease the number of patients with allergy.357
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