SMA (Intermediate SMA) - CONGENITAL NEUROMUSCULAR DISORDERS

CONGENITAL NEUROMUSCULAR DISORDERS

Type 2 SMA (Intermediate SMA)

Type 3 SMA

(Kugelberg-Welander Disease, Juvenile SMA) Onset Before birth to 6 months

of age

6 to 18 months of age After 18 months of age; child has started walking or has taken at least ive independent steps Symptoms • Generalized weakness;

cannot sit without support

• Weak cry

• Dificulty sucking,

swallowing, and breathing

• Proximal muscles are more affected; i.e., thighs are weaker than lower legs; legs tend to be weaker than arms.

• Respiratory muscles may be involved.

• Scoliosis may occur.

• Weakness that is most severe in the shoulders, hips, thighs, and upper back

• Respiratory muscles may be involved.

• Scoliosis may occur.

Progression Rapidly progresses to early childhood death. Use of ventilators and gastrostomy feeding tubes may prolong life expectancy.

Slower progression. Survival into adulthood common if respiratory status maintained appropriately

Slow progression. Life span usually unaffected. Walking ability maintained until at least adolescence; may need wheelchair later in life

Adapted from Muscular Dystrophy Association. (2009c). Facts about spinal muscular atrophy (SMA). Retrieved July 12, 2012, from http://www.mda .org/publications/PDFs/FA-SMA.pdf

regimen used at home (if any). Note level of motor ability, and identify the orthoses or adaptive equipment used. Elicit history related to feeding patterns at home.

Assess for loppy appearance in the infant with SMA.

Note decreased ability to initiate spontaneous muscle movement. In the infant or young child with SMA, note narrow chest with decreased excursion, relatively protuberant abdomen, and paradoxical breathing pattern (Fig. 44.7). Observe the chest for formation of pectus excavatum. Auscultate the lungs for diminished or adventitious breath sounds. Monitor laboratory testing, which may include:

• Creatine kinase (CK): elevated when muscular damage is occurring

• Genetic testing: identiies presence of gene for SMA

• Muscle biopsy: shows the muscle abnormality

• Nerve conduction velocity test and electromyelogram:

to determine extent of involvement

Nursing Management

Nursing management of type 2 and type 3 SMA focuses on promoting mobility, maintaining pulmonary function, and preventing complications. Children with type 1 SMA need additional interventions related to prevention of complications from immobility and assistance with nutri- tion. Refer to Nursing Care Plan 44.1 for interventions related to these areas. Individualize the nursing plan of care based on the individual child’s responses to the disorder.

Respiratory muscle weakness may occur with all types of SMA and is usually the cause of death in type 1 and type 2 SMA (Muscular Dystrophy Association, 2009c). The increasing availability of more effective and more portable ventilation devices has led to some children with SMA living many years more than expected;

some children even live into their teenage years (Mus- cular Dystrophy Association, 2009c). Upper respiratory tract infections and aspiration related to dysphagia or gastroesophageal relux often develop into pneumonia and eventual respiratory failure, as the affected child cannot effectively cough independently in order to clear the airway. Many children with severe type 1 SMA are ventilator dependent. Pectus excavatum develops in children with type 1 and 2 SMA who exhibit paradoxical breathing (use of the diaphragm without intercostal muscle support). The chest becomes funnel shaped and the xiphoid process is retracted (pectus excavatum), further restricting respiratory development. Inability to appropriately suck and swallow leads to dificulty feeding in the child with type 1 SMA. Weak back muscles affect the developing spine, resulting in the complication of scoliosis, kyphosis, or both.

Therapeutic management of SMA is supportive, aimed at promoting mobility, maintaining adequate nutri- tion and pulmonary function, and preventing complications. Spinal fusion may be performed in older children with signiicant scoliosis. Supplementation with creatine and/or coenzyme Q10 is under investigation (Muscular Dystrophy Association, 2009c).

Since the discovery of the disease-causing gene for SMA, further research and improved diagnostic techniques have occurred. The Spinal Muscular Atrophy Proj- ect is a National Institute of Neurological Disorders and Stroke (NINDS)–funded collaborative program focused on the development of drug therapies, potential leads for further drug discovery, and clinical testing (NINDS, 2011d). The International Standard of Care Committee for SMA published guidelines for care of the child with SMA in 2007 due to the wide variation of care and clinical outcomes seen in children with SMA (Wang et al., 2007). The guidelines discussed diagnostic testing and care of the child with newly diagnosed SMA, consensus on pulmonary care, consensus on gastrointestinal and nutritional care, consensus on orthopedic care, and reha- bilitation and palliative care issues (Wang et al., 2007).

Nursing Assessment

Note history of attainment of developmental milestones, as well as loss of milestones. SMA should be suspected in a child showing symmetric weakness that is more proximal than distal and greater in the legs than arms, diminished or absent tendon relexes, and preserved sensation (Wang et al., 2007). In the infant or child with known SMA, assess for recent hospitalizations or respiratory illness. Determine the respiratory support

FIGURE 44.7 Note the very narrow chest, beginning xiphoid depression, and relatively enlarged appearance of the abdomen in this infant with type 1 spinal muscular atrophy (SMA).

incidence is about 3.6 in every 1,000 live births ( John- ston, 2011).

Most affected children will develop symptoms in infancy or early childhood. There is a large variation in symptoms and disability. For some children it may be as mild as a slight limp; for others it may result in severe motor and neurologic impairments (NINDS, 2011a). Pri- mary signs include motor impairments such as spasticity, muscle weakness, and ataxia, which is lack of coordination of muscle movements during voluntary movements such as walking or picking up objects. Complications include mental impairments, seizures, growth problems, impaired vision or hearing, abnormal sensation or perception, and hydrocephalus. Most children can survive into adulthood, but function and quality of life can vary from near normal to substantial impairments (NINDS, 2011a).

Pathophysiology

Cerebral palsy is a disorder caused by abnormal development of, or damage to, the motor areas of the brain, resulting in a neurologic lesion. It is dificult to establish an exact location of the neurologic lesion, but it causes a disruption in the brain’s ability to control movement and posture. The lesion itself does not change over time;

thus, the disorder is considered nonprogressive since the brain injury does not progress. However, the clinical Promote mobility through the use of range- of-

motion exercises, lightweight orthotics, standing frames, and wheelchair use as appropriate. Support parents in their efforts to comply with physical and occupational therapy regimens. Older children may exercise with assistance in a warm pool. Position the child in a fashion that maintains appropriate body alignment.

Provide airway clearance techniques such as manual or mechanical cough assistance, chest percussion, and postural drainage to assist with clearance of secretions.

In collaboration with respiratory therapy, teach families the use of noninvasive ventilation support, in which positive pressure is delivered to the lungs through a mask or mouthpiece (Fig. 44.8). Provide routine tracheostomy care if the child has a tracheostomy (refer to tracheostomy section of Chapter 40).

Administer gastrostomy tube feedings if ordered, and teach families gastrostomy tube care. Use bracing as prescribed to prevent spinal curvature. Make frequent inspections for skin breakdown in areas affected by bracing.

Cerebral Palsy

Cerebral palsy is a term used to describe a range of non- speciic clinical symptoms characterized by abnormal motor pattern and postures caused by nonprogressive abnormal brain function. The majority of causes occur before delivery, but can also occur in the natal and postnatal periods ( Johnston, 2011; Zak & Chan, 2010) (Box 44.1); see Healthy People 2020. Cerebral palsy is the most common movement disorder of childhood; it is a lifelong condition and one of the most common causes of physical disability in children ( Johnston, 2011;). The

FIGURE 44.8 Use of noninvasive positive-pressure monitoring via a mask can maximize respiration and may help prevent pulmonary complications.

H E A LT H Y P E O P L E 2020

Objective Nursing Significance Reduce preterm births. • Encourage appropri-

ate birth control use among adolescents to decrease the incidence of teen pregnancy (teens have an increased incidence of preterm delivery).

• If an adolescent does become pregnant, encourage early appropriate prenatal care.

• Discourage sub- stance use among pregnant teens.

• Teach pregnant teens about an appropriate diet.

Healthy People Objectives based on data from http://www .healthypeople.gov.

Cerebral palsy is classiied in several ways. One common way is by the type of movement disturbance (Table 44.3).

Therapeutic Management

Management of cerebral palsy involves multiple disciplines, including a primary physician, specialty physicians such as a neurologist and an orthopedic surgeon, nurses, physical therapists, occupational therapists, speech therapists, dietitians, psychologists, counselors, teachers, and parents.

There is no standard treatment for all children. The overall focus of therapeutic management will be to assist the child to gain optimal development and function within the limits of the disease. Treatment is mainly preventative, symptom- atic, and supportive. Spasticity management will be a primary concern and will be determined by clinical indings.

Medical management is focused on promoting mobility through the use of therapeutic modalities and medications. Surgical management is often required and is used to correct deformities related to spasticity.

Physical, Occupational, and Speech Therapy

The use of therapeutic modalities such as physical therapy, occupational therapy, and speech therapy will be essential in promoting mobility and development in the child with cerebral palsy. The earlier the treatment begins, the better chance the child has of overcoming developmental disabilities (NINDS, 2011a).

Physical therapists work with children to assist in the development of gross motor movements such as walking and positioning, and they help the child develop independent movement. They also assist in preventing contractures, and they instruct children and caregivers in the use of assistive devices such as walkers and wheelchairs.

Occupational therapists may be responsible for fashioning orthotics and splints. AFOs are the most common orthotic used by children with cerebral palsy (Cervasio, 2011) (Fig. 44.9). AFOs help prevent deformity from conditions such as contractures and help reduce the effects of exist- ing deformities. They can help improve a child’s mobility by assisting in control of alignment and helping to increase the eficiency of the child’s gait. Spinal orthotics such as braces are used in young children with cerebral palsy to combat scoliosis that develops due to spasticity. These braces are used to delay surgical management of the scoliosis until the child reaches skeletal maturity. Splinting is used to maintain muscle length. Serial casting may also be used to increase muscle and tendon length.

Occupational therapy also assists in the development of ine motor skills and will help the child to perform optimal self-care by working on skills such as activities of daily living. Speech therapy assists in the development of receptive and expressive language and addresses the BOX 44.1

CAUSES OF CEREBRAL PALSY Prenatal

• Congenital malformation

• Hypoxia

• Maternal fever

• Maternal seizures

• Maternal bleeding

• Exposure to radiation

• Environmental toxins

• Genetic abnormalities

• Metabolic disorders

• Intrauterine growth restriction

• Intrauterine infection, such as cytomegalovirus and toxoplasmosis

• Nutritional deicits

• Preeclampsia

• Multiple births

• Prematurity

• Low birthweight

• Malformation of brain structure

• Abnormalities of blood low to the brain

• Abdominal insults Perinatal

• Prematurity (<32 weeks)

• Asphyxia

• Hypoxia

• Abnormal fetal presentation

• Sepsis or central nervous system infection

• Placental complications

• Electrolyte disturbance

• Cerebral hemorrhage

• Chorioamnionitis (infection of the placental tissues and amniotic luid)

Postnatal

• Kernicterus (a type of brain damage that may result from neonatal hyperbilirubinemia)

• Asphyxia

• Head trauma (e.g., motor vehicle accidents, abuse)

• Seizures

• Toxins

• Viral or bacterial infection of the central nervous system (e.g., meningitis)

• Cerebral infarcts

• Intraventricular hemorrhage

manifestations of the lesion change as the child grows.

Some children may improve, but many either plateau in their attainment of motor skills or demonstrate worsen- ing of motor abilities because it is dificult to maintain the ability to move over time.

use of appropriate feeding techniques in the child who has swallowing problems. Speech therapists may teach augmented communication strategies to children who are nonverbal or who have articulation problems. Many children may not communicate verbally but can use alterna- tive means such as communication books or boards and

computers with voice synthesizers to make their desires known or to participate in conversation.

Pharmacologic Management

Various pharmacologic options are available to manage spasticity (see Drug Guide 44.1). Oral medications used to treat spasticity include baclofen, dantrolene sodium, and diazepam. Children with athetoid cerebral palsy may be given anticholinergics to help decrease abnormal movements.

Parenterally administered medications such as botulin toxins and baclofen are also used to manage spasticity.

Botulinum toxin is injected into the spastic muscle to balance the muscle forces across joints and to decrease spasticity. It is useful in managing focal spasticity in which the spasticity is interfering with function, producing pain, or contributing to a progressive deformity. Botulin toxin injection is performed by the physician or nurse practi- tioner and can be done in the clinic or outpatient setting.

Take Note!

Pathologic drooling is a problem for many children with cerebral palsy. It can lead to dehydration, den- tal enamel erosion, and maceration of the skin, and an odor can result, along with social stigmatization. Recent research has shown that intraglandular injection of botulinum toxin type A can improve drooling with few side efects in children with neurologic disorders (Fairhurst & Cockerill, 2011; Ong, Wong, &

Hamid, 2009).

FIGURE 44.9 The child with cerebral palsy may beneit from wearing ankle–foot orthotics (AFOs) to provide support needed for independent or assisted walking.

TABLE 44.3 CLASSIFICATION OF CEREBRAL PALSY

Types Description Characteristics

Spastic Hypertonicity and permanent

contractures; different types based on which limbs are affected:

• Hemiplegia: both extremities on one side

• Quadriplegia: all four extremities

• Diplegia or paraplegia: lower extremities

• Most common form

• Poor control of posture, balance, and movement

• Exaggeration of deep tendon relexes

• Hypertonicity of affected extremities

• Continuation of primitive relexes

• In some children, failure to progress to protective relexes

Athetoid or dyskinetic

Abnormal involuntary movements • Infant is limp and laccid.

• Uncontrolled, slow, worm-like writhing or twisting movements

• Affects all four extremities and possible involvement of face, neck, and tongue

• Movements increase during periods of stress.

• Dysarthria and drooling may be present.

Ataxic Affects balance and depth perception • Rare form

• Poor coordination

• Unsteady gait

• Wide-based gait

Mixed Combination of the above Most common is spastic and athetoid.

Intrathecal administration of baclofen has been shown to decrease tone, but it must be infused continu- ously due to its short half-life. Surgical placement of a baclofen pump will be considered in children with general spasticity that is limiting function, comfort, activities of daily living, and endurance. To test whether it is a suit- able option, an intrathecal test dose of baclofen will be administered. If the trial is successful, a baclofen pump will be implanted. Once inserted, delivery of the drug can be individualized to meet the child’s unique needs.

The pump needs to be replaced every 5 to 7 years and must be reilled with medication approximately every 3 months, depending on the type of pump. Complica- tions with baclofen pump placement include infection, rupture, dislodgement, or blockage of the catheter.

Medications are also used to treat seizure disorders in children with cerebral palsy (refer to Chapter 38 for information related to seizure management).

Surgical Management

Many children will require surgical procedures to correct deformities related to spasticity. Multiple corrective surgeries may be required; they usually are orthopedic or neurosurgical. Surgery may be used to correct contractures that are severe enough to cause movement limita- tions. Common orthopedic procedures include tendon lengthening procedures, correction of hip and adductor muscle spasticity, and fusion of unstable joints to help improve locomotion, correct bony deformities, decrease painful spasticity, and maintain, restore, or stabilize a spinal deformity. Neurosurgical interventions may include placement of a shunt in children who have developed hydrocephalus, or surgical interventions to decrease spasticity. Selective dorsal root rhizotomy is used to decrease spasticity in the lower extremities by reducing the amount of stimulation that reaches the muscles via the nerves.

Nursing Assessment

For a full description of the assessment phase of the nursing process, refer to page 1592. Assessment indings pertinent to cerebral palsy are discussed below.

Health History

Elicit a description of the present illness and chief com- plaint. Obtain a detailed account of gestational and perinatal events (refer to Box 44.1). Common signs and symptoms reported during the health history of the undi- agnosed child might include:

• Intrauterine infections

• Prematurity with intracranial hemorrhage

• Dificult, complicated, or prolonged labor and delivery

• Multiple births

• History of possible anoxia during prenatal life or birth

• History of head trauma

• Delayed attainment of developmental milestones

• Muscle weakness or rigidity

• Poor feeding

• Hips and knees feel rigid and unbending when pulled to a sitting position

• Seizure activity

• Subnormal learning

• Abnormal motor performance, scoots on back instead of crawling on abdomen, walks or stands on toes

Children known to have cerebral palsy are often admitted to the hospital for corrective surgeries or other complications of the disease, such as aspiration pneumonia and urinary tract infections. The health history should include questions related to:

• Respiratory status: Has a cough, sputum production, or increased work of breathing developed?

• Motor function: Has there been a change in muscle tone or increase in spasticity?

• Presence of fever

• Feeding and weight loss

• Any other changes in physical state or medication regimen

Physical Examination

Observe general appearance. Pay close attention to the neurologic assessment and motor assessment. Assess for delayed development, size for age, and sensory altera- tions such as strabismus, vision problems, and speech disorders. Abnormal postures may be present. While lying supine, the infant may demonstrate scissor crossing of the legs with plantar lexion. In the prone position the infant may raise his or her head higher than normal due to arching of the back, or the opisthotonic position may be noted. The infant may also abnormally lex the arms and legs under the trunk. Primitive relexes may persist beyond the point at which they disappear in a healthy infant. Evolution of protective relexes may be delayed. Watch the infant or child play, crawl, walk, or climb to determine motor function and capability. Note any movement disorder. Infants with cerebral palsy may demonstrate abnormal use of muscle groups such as scooting on their back instead of crawling or walking.

Assess active and passive range of motion. Pay par- ticular attention to muscle tone. Though an increased or decreased resistance may be noted with passive movements, hypertonicity is most often seen. Increased resistance to dorsilexion and passive hip abduction are the most common early signs. Sustained clonus may be present after forced dorsilexion. Lift the child by placing your hands in the infant’s or child’s axillary area to assess shoulder girdle function and tone. Infants with cerebral palsy often demonstrate prolonged standing on their toes when supported in an upright standing position in this fashion. Lift the young child off the ground while the child holds your thumbs to test hand strength. Observe

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