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
