Diagnostic Evaluation

The diagnosis is the molecular genetic marker for the survival motor neuron gene, which is located on chromosome 5q13. Prenatal diagnosis may be made by genetic analysis of circulating fetal cells in maternal blood (Beroud, Karliova, Bonnefont, et al, 2003) or circulating fetal cells in amniotic fluid. Maternal report of decreased fetal movements may also be suggestive of SMA (Markowitz, Tinkle, and Fischbeck, 2004). The risk of subsequent affected offspring in carriers of the mutant gene or in families with known cases of SMA may also be evaluated genetically. Further diagnostic studies include muscle EMG, which demonstrates a denervation pattern, and muscle biopsy; however, the genetic analysis has become the gold standard for diagnosis of the condition. Newborn screening is possible yet is not available on a widespread basis, possibly because there is no treatment (Lunn and Wang, 2008).

Therapeutic Management

There is no cure for the disease, and treatment is symptomatic and preventive, primarily preventing joint contractures and treating orthopedic problems, the most serious of which is scoliosis; hip subluxation and dislocation may also occur. Many children benefit from powered chairs, lifts, special pressure-adjustable mattresses, and accessible environmental controls. Muscle and joint contractures require careful attention and care to prevent further complications. Nutritional failure to thrive may occur in infants and toddlers as a result of poor feeding; supplemental gastrostomy feedings may be required to maintain adequate nutritional status and maintain weight gain (Iannaccone and Burghes, 2002). The use of lower extremity orthoses may assist with ambulation, but eventually the child may be confined to a wheelchair as muscle atrophy progresses.

Restrictive lung disease is the most serious complication of SMA (Iannaccone, 2007). Upper respiratory tract infections often occur and are treated with antibiotic therapy; they are the cause of death in many children. Sleep-disordered breathing is common in children with SMA and often requires noninvasive mechanical ventilation (Iannaccone and Burghes, 2002; Iannaccone, 2007). A polysomnogram may be performed to determine optimal therapeutic intervention with supplemental oxygen or noninvasive ventilation modes. Noninvasive ventilation methods such as bilevel positive airway pressure (BiPAP) have decreased the morbidity and increased the survival rate of children with SMA types 1 and 2. A significant number of infants with SMA require a tracheotomy, and associated medical conditions in survivors include gastroesophageal reflux, scoliosis, early-onset puberty, hip dysplasia, and recurrent oral candidiasis (Bach, 2007).

A number of clinical trials are currently in progress with existing drugs (e.g., valproic acid, phenylbutyrate, creatine) aimed at increasing the SMN mRNA and thus decreasing muscle wasting (Lunn and Wang, 2008).

Nursing Care Management

The infant or small child with progressive muscle weakness requires nursing care similar to that of the immobilized patient. However, the underlying goal of treatment is to assist the child and family in dealing with the illness while progressing toward a life of normalization within the child’s capabilities.

Infants who are able to feed may require special nutritional considerations during breast- and bottle-feeding. Such infants tire easily and may be difficult to feed as a result of a weak suck and an unprotected airway, which cause choking and aspiration. Skin care needs must be addressed because the infant or child is not able to turn over and requires turning to prevent skin breakdown. A compromised nutritional status may further threaten skin integrity.

Preventing muscle and joint contractures, promoting independence in performance of ADLs, and incorporating the child into the mainstream of school when possible should be the focal points of care. In addition, parents need support and resources to be able to provide for the child and remain an intact family. Because children with neuromuscular disease have abnormal breathing patterns that often contribute to early death, it is important to ensure adequate ventilation and oxygenation, especially during sleep when breathing is shallow and hypoxemia may develop. Home pulse oximetry may be used to assess the child during sleep and provide supplemental oxygenation treatment as necessary (Young, Lowe, and Fitzgerald, 2007; Bush, Fraser, and Jardine, 2005) (see section on Duchenne muscular dystrophy [DMD], later in this chapter, for respiratory management). Supportive care also includes management of orthoses and other orthopedic equipment as required.

Because children with SMA are intellectually normal, verbal, tactile, and auditory stimulation are important aspects of developmental care. Supporting them so that they can see the activities around them and transporting them in appropriate devices (e.g., wagon, power wheelchair) for a change of environment provide stimulation and a broader scope of contacts.

Children who are able to sit require proper support and attention to alignment to prevent deformities and other complications. Children who survive beyond infancy need attention to educational needs and opportunities for social interaction with other children. The parents of a child who is chronically ill require much support and encouragement.* (See Chapters 22 and 23.) Parents who have not sought genetic counseling should be encouraged to do so to evaluate further risk potential. (See Chapter 5.)

Therapeutic and Nursing Care Management

Management is primarily symptomatic and supportive and related to maintaining mobility as long as possible, preventing complications, and providing child and family support. The discussion of family support in the section for DMD is also applicable to families of children with SMA.

Pathophysiology

GBS is an immune-mediated disease often associated with a number of viral or bacterial infections or the administration of vaccines. It has been associated with infectious mononucleosis, measles, mumps, Campylobacter jejuni (gastroenteritis), cytomegalovirus, Borrelia burgdorferi (Lyme disease), Epstein-Barr virus, Helicobacter pylori, and Mycoplasma and Pneumocystis infections. Previous infection with C. jejuni is associated with a severe form of GBS.

Animation—Guillain-Barré Syndrome

Pathologic changes in spinal and cranial nerves consist of inflammation and edema with rapid, segmented demyelination and compression of nerve roots within the dural sheath. Nerve conduction is impaired, producing ascending partial or complete paralysis of muscles innervated by the involved nerves. GBS has three phases (Newswanger and Warren, 2004):

Clinical Manifestations

A mild influenza-like illness or sore throat usually precedes the paralytic manifestations of GBS. The onset can be rapid, reaching peak activity within 24 hours, or there may be a gradual progression of symptoms over days or weeks. Neurologic symptoms initially involve muscle tenderness that sometimes is accompanied by paresthesia and cramps. Proximal muscle weakness progressing to paralysis usually occurs before distal weakness, and there is a tendency toward symmetric involvement. In most patients paralysis ascends from the lower extremities, often involving the muscles of the trunk and upper extremities and those supplied by cranial nerves. The seventh cranial (facial) nerve is often affected.

Tendon reflexes are depressed or absent, and paralysis is flaccid. Paralysis may involve facial, extraocular, labial, lingual, pharyngeal, and laryngeal muscles. Evidence of intercostal and phrenic nerve involvement includes breathlessness in vocalizations and shallow, irregular respirations. There may be variable degrees of sensory impairment. Most patients complain of muscle tenderness or sensitivity to slight pressure. Lower limb pain and back pain are common in children with GBS. Urinary incontinence or retention and constipation are often present. Abdominal pain and fatigue have also been reported in children with GBS (Lyons, 2008).

Autonomic nervous system disturbances may occur in children and adolescents with severe muscle involvement and respiratory muscle paralysis. These include orthostatic hypotension; hypertension; and vagal responses such as bradycardia, asystole, and heart block (Laskowski-Jones, 2007).

Diagnostic Evaluation

Diagnosis is based on the paralytic manifestations and on EMG. Motor nerve conduction velocities are greatly reduced. Sensory nerve conduction time is often slowed. Cerebrospinal fluid analysis reveals an elevated protein concentration, and normal glucose level, but other laboratory studies are noncontributory. The symmetric nature of the paralysis helps differentiate this disorder from spinal paralytic poliomyelitis, which usually affects sporadic muscles.

Therapeutic Management

Treatment of GBS is primarily supportive. In the acute phase, patients are hospitalized because respiratory and pharyngeal involvement may require assisted ventilation, sometimes with a temporary tracheotomy. Treatment modalities include aggressive ventilatory support, intravenous (IV) administration of immunoglobulin (IVIG), and steroids; plasmapheresis and immunosuppressive drugs may also be used. Plasmapheresis has been shown to decrease the length of recovery in patients with severe GBS yet is expensive, and side effects include hypotension, fever, bleeding disorders, chills, urticaria, and bradycardia. Further evidence reports equal benefits to treatment of GBS with IVIG administration or plasmapheresis; both sped up recovery time in studies reviewed (Hughes and Cornblath, 2005). There is evidence of significant improvement in children with IVIG therapy (versus supportive treatment alone), and IVIG therapy is more cost-effective than plasmapheresis (Harel and Schoenfeld, 2005; Hughes, Raphael, Swan, et al, 2006; Tsai, Wang, Liu, et al, 2007). IVIG is now recommended as the primary treatment of GBS when administered within 2 weeks of diseases onset (Hughes, 2008). Corticosteroids alone do not decrease the symptoms or shorten the duration of the disease.

Medications that may be administered during the acute phase include a low-molecular-weight heparin to prevent deep vein thrombosis (DVT), a mild laxative or stool softener to prevent constipation, pain medication such as acetaminophen, and a histamine-antagonist to prevent stress ulcer formation. Chronic neuropathic pain following GBS may be treated with gabapentin, which is reported to be more effective than carbamazepine (Sarnat, 2007).

Rehabilitation after the acute phase may involve physical therapy, occupational therapy, and speech therapy. Additional consideration should be given to problems of general weakness and retraining for toileting and feeding (Lyons, 2008).

Nursing Care Management

Nursing care is essentially supportive and is the same as that required for the child with immobilization and respiratory compromise. The emphasis of care is on close observation to assess the extent of paralysis and on prevention of complications, including aspiration, atelectasis, DVT, pressure ulcer, fear and anxiety, autonomic dysfunction, and pain.

During the acute phase of the disease the nurse should carefully observe the child’s condition for possible difficulty in swallowing and respiratory involvement. Closely monitor the child’s respiratory function, and keep the oxygen source, appropriate-sized insufflation bag and mask, endotracheal intubation and suctioning equipment, tracheotomy tray, and vasoconstrictor drugs available. Monitor vital signs frequently, including neurologic signs and level of consciousness. For the child who develops respiratory impairment, the care is the same as that for any child with respiratory distress requiring mechanical ventilation.

Respiratory care, should intubation be required, requires close monitoring of oxygenation status (usually by pulse oximetry and sometimes arterial blood gases), maintenance of an open airway with suctioning, and postural changes to prevent pneumonia. Children with oral and pharyngeal involvement may be fed via a nasogastric or gastrostomy tube to ensure adequate feeding. Immobilization, which occurs with GBS, decreases gastrointestinal function; therefore attention to problems such as decreased gastric emptying, constipation, and feeding residuals require nursing assessment and appropriate collaborative interventions. Temporary urinary catheterization may be required; urinary retention is not uncommon, and appropriate assessment of urinary output is vital. Sensory impairment and paralysis in the lower extremities make the child susceptible to skin breakdown; therefore attention should be given to meticulous skin care. Passive range-of-motion exercises and application of orthoses to prevent muscle contractures are important when paralysis is present. Prevention of DVT is accomplished with pneumatic compression (antiembolism) devices, administration of a low-molecular-weight heparin, and early mobilization and ambulation. Autonomic dysfunction may be life threatening; thus close monitoring of vital signs in the acute phase is essential.

A key to recovery in the child with GBS is the prevention of muscle and joint contractures, so passive range-of-motion exercises must be carried out routinely to maintain vital function. Although the child may have a generalized paralysis, cognitive function remains intact; therefore it is important for nursing care to involve communication with the child regarding procedures and treatments that may be frightening, especially if mechanical ventilation is required. Encourage parents to talk to the child and make eye and physical contact as much as possible to reassure the child during the illness.

Pain management is crucial in the care of children with GBS. Although neuromuscular impairment may make pain perception more difficult to accurately evaluate, use objective pain scales. Carbamazepine and gabapentin may be used to manage neuropathic pain in patients with GBS.

Physical therapy may be limited to passive range-of-motion exercises during the evolving phase of the disease. Later, as the disease stabilizes and recovery begins, an active physical therapy program is implemented to prevent contracture deformities and facilitate muscle recovery. This may include active exercise, gait training, and bracing.

Throughout the course of the illness, child and parent support is paramount. The usual rapidity of the paralysis and the long recovery period greatly tax the emotional reserves of all family members. The parents and child benefit from repeated reassurance that recovery is occurring and from realistic information regarding the possibility of permanent disability. In the event of a residual disability, the family needs assistance in accepting and adjusting to the loss of function. (See Chapter 22.) The GBS/CIDP Foundation International* is a nonprofit organization devoted to support, education, and research. It provides families with support from recovered persons, publishes informational literature and a newsletter, and maintains a list of practitioners experienced with the disease.

Prevention

Primary prevention is key and occurs through immunization and boosters (American Academy of Pediatrics, 2009). Once an injury has occurred, further preventive measures are based on the child’s immune status and the nature of the injury. Specific prophylactic therapy after trauma is administration of either tetanus toxoid or tetanus antitoxin. A dose of tetanus toxoid is not necessary for clean, minor wounds in children who have completed the immunization series (see Chapter 12) or who have received a booster within the previous 10 years. Protective levels of antibody are maintained for at least 10 years. Therefore antitoxin is not indicated for the fully immunized child. Children with more serious wounds (e.g., contaminated, puncture, crush, or burn wounds) are given a tetanus toxoid booster prophylactically as soon as possible after injury.

The unprotected or inadequately immunized child who sustains a “tetanus-prone” wound (including wounds contaminated with dirt, feces, soil, and saliva; puncture wounds; avulsions; and wounds resulting from missiles, crushing, burns, and frostbite) should receive tetanus immunoglobulin (TIG). Concurrent administration of both TIG and tetanus toxoid at separate sites is recommended both to provide protection and to initiate the active immune process (American Academy of Pediatrics, 2009). Completion of active immunization is carried out according to the usual pattern. Proper surgical cleansing and débridement of contaminated wounds reduce the chance of infection.

Pathophysiology

When prevention efforts are not effective and conditions are favorable, the organisms multiply and form two exotoxins: (1) tetanospasmin, a potent toxin that affects the CNS to produce the clinical manifestations of the disease; and (2) tetanolysin, which appears to have no significance. The ideal conditions for growth of the organisms are devitalized tissues without access to air (e.g., puncture wounds); wounds that have not been washed or kept clean; and those that have crusted over, trapping pus beneath. The exotoxin appears to reach the CNS by way of either the neuron axons or the vascular system. The toxin becomes fixed on nerve cells of the brainstem and the anterior horn of the spinal cord. The toxin acts at the neuromuscular junction to produce muscular stiffness and to lower the threshold for reflex excitability.

The incubation period is 3 days to 3 weeks and averages 8 days. Most cases occur within 14 days; in neonates it is usually 5 to 14 days. Shorter incubation periods have been associated with more heavily contaminated wounds, more severe disease, and a worse prognosis (American Academy of Pediatrics, 2009).

Clinical Manifestations

There are several forms of the disease. Local tetanus is a less common but severe form characterized by persistent rigidity of muscles near the inoculation site, which may persist for weeks or months. Some cases resolve without sequelae. Neonatal tetanus results from contamination of the umbilical cord, which is rare in the United States but is common and often fatal in developing countries. The first symptom is difficulty in sucking, progressing to total inability to suck, excessive crying, irritability, and nuchal rigidity.

Generalized tetanus is the most common and dangerous form of the disease. The manner of onset varies, but the initial symptoms are usually a progressive stiffness and tenderness of the muscles in the neck and jaw. The characteristic difficulty in opening the mouth (trismus), which is caused by sustained contraction of the jaw-closing muscles, is evident early and gives the disease its common name, lockjaw. Spasm of facial muscles produces the so-called sardonic smile (risus sardonicus). Progressive involvement of the trunk muscles causes opisthotonos and a boardlike rigidity of abdominal and limb muscles. The patient has difficulty swallowing and is highly sensitive to external stimuli. The slightest noise, a gentle touch, or bright light triggers convulsive muscular contractions that last seconds to minutes. The paroxysmal contractions recur with increased frequency until they become almost continuous.

Mentation is unaffected; the patient remains alert, and pain and distress are reflected in a rapid pulse, sweating, and an anxious expression. Laryngospasm and tetany of respiratory muscles and accumulated secretions predispose the child to respiratory arrest, atelectasis, and pneumonia. Fever is usually absent or mild and generally indicates a poor prognosis. As the child recovers from the disease, the paroxysms become less frequent and gradually subside. Survival beyond 4 days usually indicates recovery, but complete recovery may take weeks.

Therapeutic Management

The unprotected or inadequately immunized child who sustains a “tetanus-prone” wound (as described above) should receive TIG. Concurrent administration of both TIG and tetanus toxoid at separate sites is recommended both to provide protection and to initiate the active immune process. Completion of active immunization is carried out according to the usual pattern (American Academy of Pediatrics, 2009). Antibiotic treatment with penicillin G (or erythromycin or tetracycline in older children with allergy to penicillin) is important in the management of tetanus as an adjunct against clostridia (Arnon, 2007).

Aggressive supportive care is necessary to treat tetanus in the acute phase. The acutely ill child is best treated in an intensive care facility, where close and constant observation and equipment for monitoring and respiratory support are readily available.

General supportive care is indicated, including maintaining adequate airway and fluid and electrolyte balance, providing pain management, and ensuring adequate caloric intake. Indwelling oral or nasogastric feedings may be required to maintain adequate fluid and caloric intake; continued laryngospasm may necessitate total parenteral nutrition or gastrostomy feeding. Severe or recurrent laryngospasm or excessive secretions may require advanced airway management such as endotracheal intubation; in some cases a tracheotomy may be performed to provide an adequate airway.

TIG therapy to neutralize toxins is the most specific therapy for tetanus. In countries where TIG is not available, equine tetanus antitoxin (not available in the United States) should be administered. Antibiotics are administered to control the proliferation of the vegetative forms of the organism at the site of infection. When the child recovers, active immunization should take place, since contraction of the disease does not confer a permanent immunity. Standard Precautions for the child with tetanus are recommended; isolation is not recommended.

Local care of the wound by surgical débridement and cleansing with an antiseptic solution helps reduce the number of proliferating organisms at the site of injury. The cleansing should be repeated several times during the first 48 hours. Deep, infected lacerations are usually exposed and débrided.

Diazepam is the drug of choice for seizure control and muscle relaxation (Arnon, 2007), but lorazepam (Ativan) may be used in some cases. Other AEDs may be administered as well. Intrathecal baclofen, magnesium sulfate, dantrolene sodium, and midazolam may also be used in the management of tetanus; intrathecal baclofen may cause apnea and should only be used in the intensive care setting (Arnon, 2007). Patients with severe tetanus and those who do not respond to other muscle relaxants may require the administration of a neuromuscular blocking agent, such as rocuronium or vecuronium. Because of their paralytic effect on respiratory muscles, use of these drugs requires mechanical ventilation with endotracheal intubation or tracheotomy and constant cardiopulmonary monitoring. Endotracheal tube insertion or tracheotomy is often indicated and should be performed before severe respiratory distress develops. Despite the absence of pain manifestation with these drugs, it is important to administer adequate analgesia.

The administration of corticosteroids has met with success in some cases.

Nursing Care Management

The care of the child with tetanus requires supportive management with particular attention to airway and breathing. Carefully evaluate respiratory status for any signs of distress, and keep appropriate emergency equipment available at all times. The location and extent of muscle spasms and the assessment of their severity are important nursing observations. Muscle relaxants, opioids, and sedatives that may be prescribed can also cause respiratory depression; therefore assess the child for excessive CNS depression, apnea, and respiratory failure. At times it may be necessary to completely paralyze the child with a muscle relaxant because of the intensity of the muscle spasms. Attention to hydration and nutrition involves monitoring an IV infusion, monitoring nasogastric or gastrostomy feedings, providing oral hygiene, and suctioning oropharyngeal secretions when indicated.

In caring for the child with tetanus, make every effort to control or eliminate stimulation from sound, light, and touch. A quiet environment is desirable to reduce the amount of stimuli on the CNS. Although a darkened room is ideal, sufficient light is essential so the child can be carefully observed. Light appears to be less irritating than vibratory or auditory stimuli.

If a potent muscle relaxant such as rocuronium or vecuronium is used, total paralysis (including respirations) makes oral communication impossible. The drug is not a sedative, however, and anxiolysis should be considered in children who are intubated. Fentanyl and midazolam may be used to manage pain and anxiety in such children. The nurse must anticipate all of the child’s needs and carefully explain the procedures beforehand to the child and family.

Additional care is focused on preventing the complications associated with prolonged immobility: decreased bowel and bladder tone and subsequent constipation, anorexia, DVT, pneumonia, and skin breakdown.

Because their mental status is often clear, intubated children are aware of what is happening to them and are often extremely anxious. Parents should stay with the child to offer security and support. They also need support, information, and reassurance from the nurse.

Types of Botulism

Several forms of botulism are recognized: food borne, infant, wound, man made (for bioterrorism), and botulism from undetermined causes. This chapter only covers the first three forms.

Diagnosis and Therapeutic Management

Diagnosis is made on the basis of the clinical history, physical examination, and laboratory detection of the organism in the patient’s stool and, less commonly, blood. However, isolation of the organism may take several days; therefore suspicion of botulism by clinical presentation should require emergent treatment (Arnon, 2007). EMG may be helpful in establishing the diagnosis; however, results may be normal early in the course of the illness.

Treatment consists of immediate administration of botulism immune globulin intravenously (BIG-IV [BabyBIG]) (Francisco and Arnon, 2007), without waiting for laboratory diagnosis. Early administration of BIG-IV neutralizes the toxin and stops the progression of the disease. The human-derived botulism antitoxin (BIG-IV) has been evaluated and is now available nationwide for use only in infant botulism. In one study infants treated with BIG-IV experienced a mean length of hospitalization decrease from 5.7 to 2.6 weeks and also had decreased time spent in intensive care, decreased mean duration of mechanical ventilation, and decreased mean duration of tube or IV feeding. In addition, the infants did not experience any adverse events related to BIG-IV. Most infants received BIG-IV treatment within 3 to 18 days of hospitalization for botulism (Arnon, Schechter, Maslanka, et al, 2006). Studies indicate that treatment with BIG-IV decreased length of hospital stay in affected infants an average of 17 days; infants with botulism requiring mechanical ventilation also had shorter hospitalizations when treated with BIG-IV (Thompson, Filloux, Van Orman, et al, 2005). Potential complications of BIG-IV include hypotension and anaphylaxis (Cirillo, 2008).

Approximately 50% of affected infants require intubation and mechanical ventilation; therefore respiratory support is crucial, as is nutritional support, since the infant is unable to feed. Trivalent equine botulinum antitoxin and bivalent antitoxin, used in adults and older children, is not administered to infants. Antibiotic therapy is not part of the management because the botulinum toxin is an intracellular molecule and antibiotics would not be effective; aminoglycosides in particular should not be administered because they may potentiate the blocking effects of the neurotoxin (Arnon, 2007).

The prognosis is generally good if the patient is adequately treated, although recovery may be slow, requiring a few weeks after severe illness. The average length of stay for infant botulism is 44 days, and the fatality rate is reported to be less than 2%. Untreated patients may require a longer hospitalization.

Nursing Care Management

Nursing responsibilities include observing, recognizing, and reporting signs of poor feeding, constipation, and muscle impairment in the infant with botulism and providing intensive nursing care when an infant is hospitalized. (See Nursing Care Management for the infant with SMA, p. 1704, and Nursing Care of High-Risk Newborns, Chapter 10.) Parental support and reassurance are important. Most infants recover when the disorder is recognized and BIG-IV therapy is implemented. Nursing care of the infant on mechanical ventilation requires observation of oxygenation status and vigilance for any complications. Parents should be aware that, during recovery, infants fatigue easily when muscular action is sustained. This has important implications for timing the resumption of feedings because of the risk of aspiration. They should also be advised that normal bowel activity may not return for several weeks. Therefore a stool softener can be beneficial.

Clinical Manifestations

The most common symptoms are general paralysis of the optic muscles with ptosis and diplopia. Difficulty swallowing, chewing, and speaking are also prominent and are accompanied by weakness and paralysis of all skeletal muscles. The signs and symptoms are more pronounced in the late afternoon and evening. Rest can help relieve the symptoms, but exercise and stress worsen them.

Diagnostic Evaluation

The diagnosis is made on the basis of the characteristic distribution of muscle weakness and the progressive weakness on repeated or sustained muscular contraction. The definitive diagnosis is established on the basis of an EMG, which demonstrates a decrease in muscle potentials with repetitive nerve stimulation (Sarnat, 2007). A clinical diagnosis may be established by observation of the response to the anticholinesterase drugs. IV administration of a small test dose of edrophonium (Tensilon) produces a beneficial effect in 1 minute, but the effect lasts less than 5 minutes. Electrophysiologic studies are helpful in diagnosis and help document transmission failure at the neuromuscular junction. Antibodies to human muscle acetylcholine are detected in the serum of almost one third of affected individuals.

Therapeutic Management

Treatment consists of the administration of cholinesterase-inhibiting drugs, such as neostigmine (Prostigmin), given intramuscularly or as oral neostigmine bromide. Pyridostigmine (Mestinon) may be administered because it is considered less toxic, but a higher dose is required to achieve the same results as neostigmine. The starting dosage of neostigmine is usually 0.04 mg/kg, administered intramuscularly every 4 to 6 hours; oral doses may be well tolerated (Sarnat, 2007). The dosage is gradually increased until a satisfactory result is obtained. The child must be observed for signs of parasympathetic stimulation from overmedication. These signs include lacrimation, salivation, abdominal cramps, sweating, diarrhea, vomiting, bradycardia, and weakness of respiratory muscles.

Other therapies directed at the immunologic mechanism include thymectomy (removal of the thymus), IVIG, long-term corticosteroid treatment, and plasmapheresis. Thymectomy may be curative for some individuals, but is not effective for familial and congenital forms of MG.

The prognosis for juvenile MG is relatively good. However, the course of the disease is marked by fluctuating remissions and exacerbations.

Nursing Care Management

Children with MG need ongoing medical and nursing supervision. Teach the parents the importance of accurate administration of medications, with special emphasis on recognizing side effects, including the dangers of choking, aspiration, and respiratory distress.

Counsel parents to promote a lifestyle that minimizes stress and maximizes relaxation. Discourage strenuous activity. Also warn them of the possibility of a sudden exacerbation of symptoms during times of physical or emotional stress (myasthenia crisis), which requires immediate medical attention. They should receive instruction in providing respiratory assistance until help arrives or the child can be transported to medical aid.

Neonatal Myasthenia Gravis

A transient form of MG occurs in approximately 10% to 20% of infants born to mothers with MG, who may not know they have the disease. The muscular weakness results from transplacentally acquired maternal acetylcholine receptor antibodies. These infants display generalized muscular weakness and hypotonia at birth with a depressed Moro reflex, ptosis, ineffective sucking and swallowing reflexes, and weak cry. Some infants may require short-term mechanical ventilation (Sarnat, 2007). Symptoms may be evident within a few hours of birth, following a period of normal appearance after delivery. There is no evidence of neurologic damage. Cholinesterase inhibitors may be given on a short-term basis to improve feeding ability. Symptoms usually disappear within 2 to 3 weeks. Infants with transient neonatal MG regain strength once maternal antibodies clear the system, and they are not at increased risk of MG later in life (Cirillo, 2008; Sarnat, 2007).

Congenital Myasthenia Gravis

Congenital MG is a rare familial abnormality of neuromuscular transmission that is not immunologically mediated. It appears indistinguishable from the transient form, but the mother usually does not have the disease. The disease persists throughout life, and more than one sibling may be affected, which suggests a genetic etiology. Gender distribution is equal. The disorder is relatively resistant to drug therapy, and the eyelid and extraocular muscles seem to be the muscles most severely affected.

The prognosis in congenital MG is usually good. Despite gradual worsening of symptoms with age, the life span is not affected significantly.

Essential Neuromuscular Physiology

The spinal cord extends from the medulla oblongata to the lower border of the first lumbar vertebra and contains millions of nerve fibers. However, because of its protected location, a considerable amount of direct trauma is required to cause injury. Posteriorly the cord is protected by the spinous processes, which are stabilized by related ligaments and muscles. It is further protected by the spinal fluid, which surrounds it and absorbs some of the shock.

Etiology

The most common cause of serious spinal cord damage in children is trauma involving MVCs (including automobile-bicycle, all-terrain vehicles, and snowmobiles), sports injuries (especially from diving, trampoline activities, gymnastics, and football), birth trauma, and child abuse. The increased use of recreational activities involving motorized vehicles such as jet water skis and motorcycles has increased the incidence of SCIs in children.

Congenital defects of the spine such as myelomeningocele (see Chapter 11) also may, in some cases, produce the effects of SCI. Transverse myelitis (inflammation of the spinal cord) has been reported to develop from inadvertent intraarterial administration of long-acting penicillin injected into the buttocks. Damage can be extensive enough to result in paraplegia or even lower limb amputation.

In MVCs most SCIs in children are a result of indirect trauma caused by sudden hyperflexion or hyperextension of the neck, often combined with a rotational force. Trauma to the spinal cord without evidence of vertebral fracture or dislocation (SCI without radiographic abnormality, or SCIWORA) is particularly likely to occur in an MVC when proper safety restraints are not used. An unrestrained child becomes a projectile during sudden deceleration and is subject to injury from contact with a variety of objects inside and outside the vehicle. Individuals who use only a lap seat belt restraint are at greater risk of SCI than those who use a combination lap and shoulder restraint. High cervical spine injuries have been reported in children less than 2 years of age who are restrained in forward-facing car seats. Infants who are improperly restrained in an infant car seat may experience cervical trauma in a car crash. Small children may also be severely injured by front seat air bags. (See Chapter 12.)

Falling from heights occurs less often in children than in adults, but vertebral compression of the spine from blows to the head or buttocks occurs in water sports (diving and surfing) or falls from horses or other athletic injuries. Birth injuries may occur in breech delivery from excessive traction force and rotation on the cord during delivery of the head and shoulders. When shaken, infants commonly sustain cervical cord damage, as well as subdural hematoma and retinal hemorrhage; cognitive impairment and death may occur subsequent to the traumatic event. Infants have weak neck muscles, and during vigorous shaking their large and heavy heads rapidly wobble back and forth. An increasing number of adolescents receive SCIs secondary to gunshot wounds, stabbings, or other violent inflicted injury.

Because of the marked mobility of the neck, fracture or subluxation (partial dislocation) is the most common immediate cause of SCI, particularly in the lower cervical region. Although unusual in adults, SCI without fracture is not uncommon in the child, whose spine is suppler, weaker, and more mobile than that of the adult. Therefore the force is more easily dissipated over a larger number of segments. Upper cervical injuries account for as many as 80% of the SCIs in children under the age of 2 years (Haslam, 2007). In children the vertebral column is composed of cartilaginous rings and is capable of considerable elongation, whereas the cord itself, its meninges, and its vascular supply are unable to withstand the same degree of traction.

The injury sustained can affect any of the spinal nerves; the higher the injury, the more extensive the damage. The child can be left with complete or partial paralysis of the lower extremities (paraplegia) or with damage at a higher level and without functional use of any of the four extremities (tetraplegia). A high cervical cord injury that affects the phrenic nerve paralyzes the diaphragm and leaves the child dependent on mechanical ventilation.

A mild but equally frightening form of cord trauma is spinal cord compression, a temporary neural dysfunction without visible damage to the cord. Complete tetraplegia can result but initially may not be differentiated from serious cord injury.

Pathophysiology

The severity of the force, the mechanisms of the injury, and the degree of the individual’s muscular relaxation at the time of the injury greatly influence the extent of the trauma. SCIs are classified as either complete or incomplete. In a complete injury there is no motor or sensory function more than three segments below the neurologic level of the injury (Mathison, Kadom, and Krug, 2008). Incomplete lesions have several typical characteristics (Mathison, Kadom, and Krug, 2008):

The American Spinal Injury Association (2009) Standards for neurologic classification of SCI worksheet is available online at www.asia-spinalinjury.org/publications/2006_Classif_worksheet.pdf. The ASIA Impairment Scale (Box 40-10) combines motor and sensory function and is used to determine the severity of impairment from the injury (complete or incomplete). It may also be used to measure neurologic changes and functional goals for rehabilitation (Mathison, Kadom, and Krug, 2008).

Clinical Manifestations

It is often difficult to determine the extent and severity of damage at first. Immediate loss of function is caused by both anatomic and impaired physiologic function, and improved function may not be evident for weeks or even months. Manifestation of the initial response to acute SCI is flaccid paralysis below the level of the damage. This stage is often referred to as spinal shock syndrome and is caused by the sudden disruption of central and autonomic pathways. Local effects of cord edema and ischemia produce a physiologic transection with or without an anatomic severance. Most children with an SCI experience some spinal shock. Manifestations include the absence of reflexes at or below the cord lesion, with flaccidity or limpness of the involved muscles, loss of sensation and motor function, and autonomic dysfunction (symptoms of hypotension, low or high body temperature, loss of bladder and bowel control, and autonomic dysreflexia).

Autonomic paralysis also affects thermoregulatory functions. Afferent impulses from temperature receptors in the skin are not integrated; therefore the patient is subject to temperature increases or decreases in response to alterations in environmental temperature. Hyperthermia can result from excessive ambient temperature, such as too many covers.

Except in the situations previously mentioned, flaccid paralysis is replaced by spinal reflex activity and increasing spasticity or, in incomplete lesions, greater or lesser degree of neurologic recovery.

The paralytic nature of autonomic function is replaced by autonomic dysreflexia, especially when the lesions are above the midthoracic level. This autonomic phenomenon is caused by visceral distention or irritation, particularly of the bowel or bladder. Sensory impulses are triggered and travel to the cord lesion, where they are blocked, which causes activation of sympathetic reflex action with disturbed central inhibitory control. Excessive sympathetic activity is manifested by a flushing face, sweating forehead, pupillary constriction, marked hypertension, headache, and bradycardia. The precipitating stimulus may be merely a full bladder or rectum or other internal or external sensory input. It can be a catastrophic event unless the irritation is relieved.

Additional clinical findings of SCI may include numbness, tingling, or burning; priapism; weakness; and loss of bowel and bladder control (Hayes and Arriola, 2005).

Neurogenic shock occurs as a result of a disruption in the descending sympathetic pathways with loss of vasomotor tone and sympathetic innervations to the cardiovascular system (Hayes and Arriola, 2005). Hypotension, bradycardia, and peripheral vasodilation occur as a result of neurogenic shock.

Children with suspected SCI may have suffered multiple injuries (e.g., MVC); therefore multiple clinical manifestations may occur that may mask those of an SCI.

In the final stage neurologic signs are stabilized in terms of loss and recovery of function. The major emphasis is on rehabilitation. A problem unique to injury in childhood is progressive spinal deformity usually not seen in adults or in adolescents near the end of the growth period. Scoliosis develops in the majority of children with high thoracic and cervical lesions and is almost certain to occur in children with tetraplegia whose injury occurred in infancy or early childhood.

Diagnostic Evaluation

A history of the injury provides valuable clues regarding the possible type of damage incurred and directions for further assessment without the risk of additional damage. A complete neurologic examination determines whether damage was incurred and, if so, the level and extent of any nerve impairment. A neurologic unit of the CNS is considered normal if reflex arcs are functioning, sensory tracts are intact when each dermatome is examined separately, and voluntary motor response demonstrates an ability to move a body part against gravity on command.

Testing a reflex arc is accomplished by stimulating the peripheral receptors at a specific site, such as eliciting the patellar reflex. Symmetric testing is performed to determine unilateral or bilateral neurologic deficit. A sufficient number of reflexes are examined to test motor function thoroughly. The blunt end of a safety pin is used to assess pressure sensitivity, and the sharp point is used to elicit pain. Hot and cold water, a tuning fork, and cotton may also be used to determine specific sensory loss (e.g., temperature, vibration, and light touch).

The ASIA dermatome classification worksheet is used to determine the extent of neurologic damage (Fig. 40-7). Body surface zones, or dermatomes, accurately correspond to the spinal cord segment receiving the sensory input from the peripheral nerves in that zone. Systematically pinpricking the body surface in each zone determines intactness of sensory pathways. Figure 40-7 illustrates the zones and the spinal cord segments they represent. The examiner tests for each specific sensory fiber in the dermatome areas in which neurologic deficit is suspected.

Matching cord level to vertebra is more difficult in infants and young children than it is in older children and adults because the sacral and several lower lumbar cord segments lie at a lower position, especially during the first 2 years of life. The spinal anatomy approaches adult configuration by the time the child reaches age 7 or 8 years; by late adolescence the conus medullaris has usually reached the level of L1.

Motor system evaluation includes observing gait if the child is able to walk; noting balance maintenance with the child’s eyes open and closed; and noting the ability to lift, flex, and extend the arms and legs. Testing muscle strength with and without resistance and against gravity provides clues to the specific nature and degree of motor dysfunction. The number of muscles in any muscle group that remain completely intact in the upper extremities makes a marked difference in the individual’s ability to provide self-care, especially at high injury levels. Hip movement is necessary for ambulation with braces and crutches.

The degree to which supportive aids are needed for ambulation is determined by the strength, stability, and movement of the pelvis, trunk, hip flexor muscles, and quadriceps muscles. A general guideline for determining the capacity for self-help is that a person with paraplegia who has function down to and including the quadriceps muscle or muscle function below the L3 level will have little difficulty in learning to walk with or without braces and crutches. It is especially vital that children with lumbar levels of injury be taught to walk functionally so that they are weight bearing at least part of the time; this minimizes the risk of osteoporosis and hypercalcemia. The functional significance of the spinal cord lesion level is given in Table 40-1.

If a CNS pathologic disorder is detected, a body system assessment is performed to determine the degree of autonomic impairment. Because the cord and CNS directly influence the function of the autonomic nerves, the specific sympathetically related organ systems are examined for skeletal muscle and vascular tone and body temperature regulation. For example, bladder and gastrointestinal function has sympathetic and parasympathetic innervation and local reflexes.

CT and MRI scans are important for localizing the lesion, but the nature of the spine in childhood often creates difficulty in interpretation. Small children often have no radiographic evidence of vertebral or spinal injury despite significant injuries ranging from complete transection with major hemorrhage to minor hemorrhage, edema, or normal neural findings (Pang, 2004). This condition, SCIWORA, is reported to occur in 19% to 34% of all pediatric SCIs (Mathison, Kadom, and Krug, 2008; Launay, Leet, and Sponseller, 2005). Pang (2004) reports a mean incidence of 34.8% for SCIWORA in children from birth to 17 years. SCIWORA is a common finding in very young children who are victims of abuse (primarily shaken baby syndrome) because of the elasticity and incomplete ossification of the vertebrae. SCIWORA is more common in children under the age of 8 years and injury to the cervical spine is common. Diagnostic scans must be taken carefully and with sufficient help to prevent further damage to the spine.

Therapeutic Management

Initial care begins at the scene of the accident with proper immobilization of the cervical, thoracic, and lumbar spine. Because of the complexity of these injuries, it is usually recommended that these persons be transported to a spinal injury center for care by specially trained health care personnel as soon as possible after the injury for appropriate diagnostic evaluation and intervention. (See The Child and Trauma, Chapter 39.)

The initial management of the child with a suspected SCI should begin with an assessment of the ABCs: airway, breathing, and circulation. Guidelines for the child who is found unconscious with an unknown cause are discussed in Chapter 31 (Cardiopulmonary Resuscitation). The airway should be opened using the jaw-thrust technique to minimize damage to the cervical spine. The child is monitored for cardiovascular instability, and measures are taken to support systemic blood pressure and maintain optimal cardiac output. Because MVC and other trauma in children may involve internal organ damage and potential bleeding, abdominal distention or other signs are acted on immediately to prevent further systemic shock. Once the child is stabilized and transported to a regional trauma center, a thorough evaluation of neurologic status and any other associated trauma is carried out by the multidisciplinary team. Additional interventions are discussed in the Nursing Care Management section below.

A number of special pediatric immobilization devices are now available that make child immobilization more physiologic according to their unique characteristics. A large head (proportionately), weaker neck musculature, and weak tracheal cartilage predispose small children to airway compromise if placed supine; hence a spinal board with a built-in head drop may protect the child’s spine and neck and provide better airway management (DeBoer and Seaver, 2004). Likewise a small pad under the shoulder prevents airway compromise by maintaining the child’s head in a neutral position.

SCI management guidelines and standards of care have been published for adult and pediatric patients with spinal injuries by the American Association of Neurological Surgeons and the Congress of Neurological Surgeons. However, there are no evidence-based guidelines for the management of SCI in children (Mathison, Kadom, and Krug, 2008).

A number of progressive rehabilitation modalities have been developed in recent years that have the potential for increasing the quality of life for children with SCI. One treatment is functional electrical stimulation (FES), also referred to as functional neuromuscular stimulation. With this treatment an electrical stimulator is surgically implanted under the skin in the abdomen, and electrode leads are tunneled to paralyzed leg muscles, enabling the child to sit, stand, and walk with the aid of crutches, a walker, or other orthoses (Spoltore, Mulcahey, Johnston, et al, 2000). The stimulator can also be used to elicit a voluntary grasp and release with the hand. Before the latter can be accomplished, a number of surgical tendon transfers may be required for elbow extension, wrist extension, and finger and thumb flexion. In addition, FES has therapeutic benefits, which include increased muscle strength, improved gait function, and increased cardiovascular fitness (Thrasher and Popovic, 2008). Tendon transfers have been shown to be successful in enhancing hand function, increasing pinch force, and facilitating independence in ADLs (Spoltore, Mulcahey, Johnston, et al, 2000). Restoration of hand and arm function enables children with SCI to perform self-catheterization and achieve greater independence in personal hygiene.

FES is reported to have many benefits for children with SCI, including cardiovascular conditioning, decreasing pressure ulcers, and increasing blood flow (Merenda, Spoltore, and Betz, 2000). Implanted FES has also been reported to enhance bowel function in adolescents with SCI. Subjects were also able to stand independently from a wheelchair and walk 6 m (20 feet) when using the FES (Johnston, Betz, Smith, et al, 2005).

Administration of pharmacologic agents such as clonidine hydrochloride may improve ambulation in patients with partial SCIs, and exercise therapy through interactive locomotor training has helped some individuals with SCI regain ambulatory function (Kalb, 2003).

A number of orthoses or ambulation aids such as crutches may still be necessary to achieve upright mobility, yet, as robotic technology advances, so do the chances for improved mobilization in children with SCI. Mechanical or robotic orthoses may be used in conjunction with FES to enable ambulation in persons with SCI (To, Kirsch, Kobetic, et al, 2005). Gait training may be achieved with a number of different modalities, including a stationary cycle; however, no specific method has proved superior to the others. FES has also been effective in reducing complications from bladder and bowel incontinence and in assisting males in achieving penile erection.

Methylprednisolone has been administered to decrease inflammation, enhance spinal blood flow, and scavenge free radicals; however, many experts suggest there is insufficient evidence to support its use in pediatric SCI at this time (Mathison, Kadom, and Krug, 2008). Methylprednisone is currently considered a treatment option for SCI.

Paralytic scoliosis is a problem for prepubertal children with SCI because thoracic capacity is reduced and pulmonary function hampered. Newer treatments for paralytic scoliosis involve prophylactic bracing from the time of injury until skeletal maturity is achieved. Bracing may delay the need for spinal fusion surgery and in some cases prevented surgical fusion in children with curvatures less than 10 degrees (Mehta, Betz, Mulcahey, et al, 2004). The Boston brace soft body jacket and thoracolumbosacral orthosis (TLSO) are commonly used for bracing; however, compliance with bracing is often difficult to enforce because of the restrictions on children’s activities and independence (Chafetz, Mulcahey, Betz, et al, 2007). (See Chapter 39.). Additional rehabilitative treatments are discussed in other sections as they pertain to bladder and bowel function and sexuality.

Surgical interventions for SCI include early cord decompression (decompression laminectomy) and cervical or thoracic fusion. Crutchfield, Vinke, or Gardner-Wells tongs and skeletal traction may be used for early cervical vertebral stabilization. A halo vest may be suited for ambulation after the acute phase. (See also Cervical Traction, Chapter 39.) After cervical spinal fusion a hard cervical collar or sterno-occipital-mandibular immobilizer brace may be worn until the fusion is solidified.

Nursing Care Management

The nursing care of the child affected by SCI is complex and challenging. A multidisciplinary SCI team is equipped to manage the acute phase of the injury, and some members, including the nurse, may follow the patient to eventual recovery. Nursing management is concerned with ensuring adequate initial stabilization of the entire spinal column with a rigid cervical collar with supportive blocks on a rigid backboard (Barker and Saulino, 2002). The traumatic event causing the injury may or may not be recalled if the child lost consciousness; such events are extremely frightening to the child. The young child may also be frightened by the immobilization process and the inability to move extremities; therefore it is important to reassure and comfort the child during this process.

During the acute phase of the injury it is imperative that airway patency be ensured, complications prevented, and function maintained. Evaluate the extent of the neurologic damage early to establish a baseline for neurologic function. Continual assessment of sensory and motor function should occur to prevent further deterioration of neurologic status as a result of spinal cord edema. The ASIA Impairment Scale can be used to assess neurologic function on a routine basis during the patient’s recovery. Once the patient is admitted, further evaluation of his or her ability to perform ADLs and need for assistance during recovery can be made with the Functional Independence Measure scale (Barker and Saulino, 2002).

Nursing care during the acute phase should also focus on frequent monitoring of neurologic signs to determine any changes in neurologic function that require further intervention (e.g., level of consciousness using the Glasgow Coma Scale). In addition to airway maintenance, the nurse monitors for changes in hemodynamic status that may require immediate medical attention. Neurogenic shock consists of hypotension, bradycardia, and vasodilation. Inotropic medications may be required to maintain adequate perfusion. Renal function is closely monitored by measuring urinary output and fluids administered. The child with a head injury may experience elevated intracranial pressure; therefore changes in neurologic status are reported to the practitioner. Fluid restriction may be required if intracranial pressure is elevated, so fluid intake should be closely monitored.

Although care of the child with an SCI is, in most aspects, the same as that of any immobilized child, some important differences are discussed here. (See The Immobilized Child, Chapter 39.) Additional aspects of care that should be addressed on an individual basis include hypercalcemia in adolescent males, DVT, latex sensitization, and sleep disordered breathing (Vogel, Hickey, Klaas, et al, 2004).

Juvenile Dermatomyositis

Juvenile dermatomyositis (JDM) is a relatively rare systemic autoimmune vasculopathy that often occurs after a triggering event such as infection with group A β-hemolytic streptococci, enterovirus (coxsackievirus B), or parvovirus. An environmental trigger such as excessive sun exposure has also been proposed in some children. In children one of the human leukocyte antigens (DQA1*0501, B8, DRB*0301, or DQA1*0301) is present on chromosome 6 and may be associated with increased susceptibility to the disease (Feldman, Rider, Reed, et al, 2008; Pachman, 2007). Caucasian girls are twice as likely to be affected as boys. The average age at onset is 6.9 years. Children with onset before age 7 may experience milder symptoms.

The diagnosis is often established through clinical presentations of bilateral symmetric proximal weakness, a characteristic malar rash (described below), elevated serum enzymes (aldolase, creatine kinase, transaminase, and lactate dehydrogenase), altered EMG, and abnormal muscle biopsy. An alternative to muscle biopsy is an MRI. Nailfold capillaroscopy shows decreased capillary density and presence of disease activity and may be used to diagnose the condition (Feldman, Rider, Reed, et al, 2008).

For approximately half of affected children, the disease is acute and progresses rapidly. Children under 6 years of age often are seen initially with fever and signs of an upper respiratory tract illness. There is proximal limb and trunk muscle weakness and loss of reflexes. Consequently, the child may not be able to rise from the floor to a standing position without walking the hands up the legs (Gower sign). The disease often affects the neck muscles, and the child may have difficulty lifting the head or supporting it in an upright position. Muscles tend to be stiff and sore. A generalized vasculitis of small arteries and capillaries is one prominent feature of the disease. Masseter involvement with atrophy may occur, which makes it difficult to chew food during the active stage of the disease. Soft palate dysfunction may make speech difficult and interfere with breathing. Distal muscle strength and reflex responses remain unaffected. JDM is characterized by a red erythematous rash over the malar areas and nose and a violet discoloration of the eyelids. The skin over extensor muscle surfaces may be erythematous, scaly, and atopic. Calcium deposits develop in muscle tissues as the disease progresses. Dystrophic calcifications may develop over areas exposed to pressure, including the elbows, knees, digits, and buttocks. These lesions may result in skin ulceration with subsequent infection, pain, and functional disability from joint contractures. The vasculitis may cause gastrointestinal, renal, cardiac, and ophthalmologic symptoms as the disease progresses. A common problem in JDM is aspiration pneumonia, and measures should be taken to ensure the child has an adequate airway at all times. If the child has difficulty feeding, a gastrostomy may be used to supplement caloric intake until the drug regimen controls the symptoms.

JDM responds to high-dose oral corticosteroid therapy and methotrexate; in some children high-dose intermittent intravenous methylprednisone may be required. All children with JDM should use a sunscreen to protect against ultraviolet A and B rays. Vitamin D and adequate dietary intake of calcium are also recommended to increase and maintain bone density and minimize osteopenia (Feldman, Rider, Reed, et al, 2008; Pachman, 2007). Some children may respond to cyclophosphamide if methotrexate and IV corticosteroid therapy are not effective (Pachman, 2007). IVIG has been effective in some children who were intolerant of high-dose corticosteroids. Other treatments that have been effective in adult myositis and in isolated cases of JDM include hydroxychloroquine, systemic tacrolimus, etanercept or infliximab, rituximab, and cyclosporin (Feldman, Rider, Reed, et al, 2008).

Physical therapy is essential to prevent contracture deformity and to rebuild muscle strength. Meticulous skin care is an important nursing consideration in the care of these patients.

Although the prognosis for survival has steadily improved, JDM remains a serious chronic illness. Death can occur in the acute phase as a result of myocarditis, progressive unresponsive myositis, perforation of the bowel, or, occasionally, lung involvement. The current mortality rate is approximately 1% (Pachman, 2007).

Muscular Dystrophies

The MDs constitute the largest and most important single group of muscle diseases of childhood (Table 40-2). They have a genetic origin in which there is gradual, progressive degeneration of muscle fibers, and they are characterized by progressive weakness and wasting of symmetric groups of skeletal muscles, with increasing disability and deformity. In all forms of MD there is insidious loss of strength, but each differs in regard to the muscle groups affected, age of onset, rate of progression, and inheritance patterns.

The basic defect in MD is unknown but appears to be caused by a metabolic disturbance unrelated to the nervous system. Initial sites of muscle involvement are illustrated in Fig. 40-9.

Treatment of the MDs consists mainly of providing supportive measures (including physical therapy; orthopedic procedures to minimize deformity; and ventilatory support, including airway clearance techniques) and assisting the affected child in meeting the demands of daily living. Duchenne muscular dystrophy is discussed in the following sections. Other forms of MD include myotonic dystrophy, scapulohumeral MD, limb-girdle MD, fascioscapulohumeral MD, and congenital MD (Sarnat, 2007).

Duchenne Muscular Dystrophy

DMD is the most severe and most common MD of childhood. It is inherited as an X-linked recessive trait, and the single-gene defect is located on the short arm of the X chromosome. DMD has a high mutation rate, with a negative family history in approximately 65% to 75% of all cases; therefore genetic counseling is an important aspect of the care of the family. Approximately 30% of DMD patients are new mutations and the mother is not the carrier (Sarnat, 2007).

As in all X-linked disorders, males are affected almost exclusively. The female carrier may have an elevated serum CK, but muscle weakness is usually not a problem; however, about 10% of female carriers develop cardiomyopathy (Manzur, Kinali, and Muntoni, 2008). In rare instances a female may be identified with DMD disease yet with muscular weakness that is milder than in boys (Sarnat, 2007). The incidence is approximately 1 in 3600 male births for the Duchenne form and approximately 1 in 30,000 live births for the Becker type, a milder variant (Sarnat, 2007). Box 40-12 describes the characteristics of DMD.

At the genetic level, both DMD and Becker MD result from mutations of the gene that encodes dystrophin, a protein product in skeletal muscle. Dystrophin is absent from the muscle of children with DMD and is reduced or abnormal in children with Becker MD. The absence of dystrophin leads to a number of problems in muscle, including muscle fiber degeneration. A deficiency of dystrophin isoforms in brain tissue causes cognitive and intellectual impairment (Manzur, Kinali, and Muntoni, 2008). Children with Becker MD have a later onset of symptoms, which are usually not as severe as those seen in DMD. There is a strong correlation between the clinical severity of these disorders and the type of genetic mutation and dystrophin protein alterations.

• Upper motor neuron lesions produce weakness associated with spasticity, increased deep tendon reflexes, and abnormal superficial reflexes; lower motor neuron lesions interrupt the reflex arc, causing weakness and atrophy of the skeletal muscles.

• The most useful classification of neuromuscular disorders defines the source of the lesion: cerebral cortex, anterior horn cells of the spinal cord, peripheral nerves, neuromuscular junction, and muscles.

• Clinical manifestations of CP include delayed gross motor development; abnormal motor performance; alterations of muscle tone; abnormal posture; reflex abnormalities; and associated disabilities such as developmental and cognitive impairment, seizures, behavioral disorder, speech problems, feeding and growth problems, chronic constipation, and sensory impairment.

• Therapy for CP takes into account the nature of the physical disability, defects associated with the disorder, and interpersonal and social influences encountered by the affected child.

• Werdnig-Hoffmann disease is characterized by progressive weakness and wasting of skeletal muscles caused by degeneration of anterior horn cells.

• Nursing care of the child with GBS consists of monitoring vital signs, monitoring respiratory status, ensuring alignment and positioning, providing physical therapy, managing pain, and providing support to the family.

• Tetanus occurs when tetanus spores or vegetative bacilli enter a wound and multiply in a susceptible host.

• Infant botulism results from toxins produced by C. botulinum; constipation is often a presenting symptom in infants, followed by generalized weakness and poor feeding.

• Management of MG includes administering oral anticholinesterase drugs, ensuring adequate rest periods, and preventing MG crises.

• SCIs represent a major debilitating health problem that is largely preventable in children and adolescents by instituting and following safety measures such as proper car safety restraints and avoiding alcohol ingestion before driving a motor vehicle.

• SCIs usually involve four interrelated pathologic changes: cellular damage to cord tissue; hemorrhage and vascular damage; structural changes of white and gray matter related to vascular disruption, inflammation, and edema; and local biochemical response to trauma.

• Therapeutic management of SCI is directed toward preventing further neuronal damage, managing associated complications, and maintaining vital functions.

• The goals of rehabilitation in SCI are to maximize functional mobility; to help the child cope with the dysfunction and build a positive self-image; to promote independence in performing ADLs (including self-care and hygiene); and to promote education, employment, social relationships, and independent living.

• MDs are the largest and most important group of debilitating muscular dysfunctions in childhood.

• The major complications of MD include contractures, disuse atrophy, respiratory infections, scoliosis, obesity, respiratory compromise, and cardiac failure.

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