**7.6.3 Standing devices**

Non-ambulatory patients with SMA may benefit from a standing program using standing frames or swivel walkers. Standing programs are used for non-ambulatory patients to prevent or reduce secondary impairments by maintaining muscle extensibility, preventing muscle and soft tissue contracture, promoting optimal musculoskeletal development, and to address the issue of reduced bone mineral density.27,29

#### **7.6.4 Wheelchairs and seating systems**

Because of the progressive weakness associated with SMA, many patients benefit from a wheeled mobility device as the primary means of locomotion. Wheelchair seating system deserves special considerations since many patients require a full-time use of the wheeled mobility device. The course and progression of the disease, presenting symptoms, degree of spinal deformity, and whether the patient is using mechanical ventilation should be taken into considerations when deciding on a mobility device. Manual wheelchairs allow the patients to maintain upper body strength and cardiovascular endurance. A power wheelchair should be considered when impairments prevent manual propulsion. Power wheelchairs enable patients to maintain a level of independence while moving within their environment and to compensate for mobility limitations.14 For young children who are not ambulatory, power mobility may be used to provide independent mobility at appropriate developmental age.25 Children as young as two years can independently propel wheelchair.14, 25

#### **7.7 Management of scoliosis**

Progressive weakness and reduced mobility associated with SMA place the patients at risk of contractures and scoliosis. Scoliosis is the most serious orthopedic problem seen in patients with SMA. Scoliosis develops earlier and progresses faster in non-ambulatory children than ambulatory children, scoliosis is seen in almost all children with type II SMA and majority of patients with type III, with the severity is less in type III SMA as compared to type II SMA. The incidence and severity of scoliosis increase with age and severity of muscle weakness, with the severity and progression of scoliosis increase once patients lose ambulation and become dependent on wheelchair for ambulation. Reduced respiratory function is common in patients with scoliosis. As muscle weakness progresses, the degree of scoliosis increases causing more discomfort and difficulty in positioning and respiration. Presence and degree of spinal deformity should be monitored periodically by examination and routine radiography, particularly for the non-ambulatory patients or as patient loses ambulation. Spinal x-rays are indicated once there is clinically detected scoliosis.32 Range of motion program and spinal positioning are important to provide comfort and slow the progression of spinal deformities. Adequate trunk supports on a wheelchair, and wheelchair modifications such as custom molding, gel or air cushions may be needed to provide maximum support, and comfort and may minimize the progression of spinal deformity. As

Spinal Muscular Atrophy 231

pressure ventilation. Ventilatory assistance might be used for patients with respiratory

Genetic counseling for patients or parents who wish to have another child is extremely important. SMA genetic testing can be used for carrier detection and detection of an affected

Some patients with SMA are limited to occupations that do not require physical demands. Vocational counseling and planning may be beneficial early during high school years to facilitate transition from school to postsecondary education. Vocational counseling may be

Counseling and psychological support are important strategies in the management of SMA. Anxiety and depression can greatly impact patients and families' quality of life and their abilities to cope with the diseases and progressive changes in function and abilities. Formal counseling and psychological support should be available to assist patients and families coping with the severity and progression of the disease. Patients and families should be educated regarding the disease process and expectations and making sure that families are

Spinal muscular atrophy, a neuromuscular disorder, is one of the leading genetic causes of infant mortality. The disease is caused by deletion or mutation of the SMN1 gene and a reduction in the levels of functional SMN, resulting in selective death of spinal motor neurons. The type of SMA (I, II, III, or IV) is determined by the age of onset, the severity of symptoms, and the maximum function achieved. There are other rare types of SMA disorders with similar symptoms but they are caused by different genes other than SMN1 and genetic mutation. Spinal muscular atrophy is characterized by severe progressive muscle weakness, atrophy and hypotonia. Complications of muscle weakness include decreased mobility function, restrictive lung disease, contractures, orthopedic deformities and psychosocial problems. There is no cure for SMA. Treatment is usually supportive and focuses on management of the symptoms and preventing complications of muscle weakness. Pulmonary complication is a hallmark of the disease and is the main cause of death especially in type I and type II SMA. The prognosis and clinical course of SMA are highly variable, and they are more of a continuous spectrum with the age of death from

Bach, J., Baird, S., Plosky, D., Navado, J., & Weaver, B. (2002). Spinal muscular atrophy type 1: management and outcomes. *Pediatric Pulmonology*, Vol. 34, pp. 16-22.

failure.

fetus.

**7.9 Genetic counseling** 

**7.10 Vocational counseling** 

**7.11 Psychological support** 

infancy to normal life expectancy.

**9. References** 

**8. Summary** 

necessary to help adjustment to work settings.

having the appropriate expectations for mobility and function.

scoliosis progresses, external bracing such as thoraco-lumbo-sacral orthosis can be used to provide support and to apply forces to realign the vertebral column. External bracing is used to reduce, prevent, or slow the progression of scoliosis.16 Surgical correction of scoliosis is required for patients to stop the progression of scoliosis and to maintain function and respiratory reserve.22 The decision and timing of surgical intervention are based on degree of scoliosis, curve progression, pulmonary function, and bony maturity.30 Surgical correction of spinal fusion is indicated to prevent further progression and deterioration of scoliosis and respiratory function. The outcomes of spinal stabilization include improved sitting balance, endurance and cosmetics30 and slowed pulmonary progression. Intensive preoperative and postoperative physical therapy is required to prevent respiratory complications, and loss of strength or function after spinal fusion.13 Orthotic intervention, new wheelchair or wheelchair modification are likely to be required after the surgeries and should be included in the preoperative plan of care.

#### **7.8 Management of respiratory complications**

Lung diseases resulting from weakness associated with SMA are the most common and most serious complications of SMA.12 Respiratory impairments place the patient at risk for respiratory tract infections, and pulmonary insufficiency/failure, and are the major causes of morbidity and mortality.

The key respiratory problems in SMA are impaired cough with poor clearance of lower airway secretions; hypoventilation; chest wall and lung underdevelopment; and recurrent infections.30 Sleep-disordered breathing resulting from hypoventilation is common in SMA.

Cardiopulmonary endurance reduces markedly once the child becomes wheelchair dependent. Increased weakness, decreased mobility level, and development of scoliosis are important factors to consider when assessing the respiratory function and progression of respiratory complications.

Patients with SMA should be evaluated by a respiratory care specialist. Routine evaluation of respiratory function including pulmonary function testing should be done on a regular bases. Pulmonary function testing with forced vital capacity can be used as a baseline and as a predictor of respiratory reserve. Pulse oximeters can be used at home as to indicate when the child is not ventilating properly.12

Providing information about respiratory care and anticipated future needs is crucial to respiratory management of SMA.30 Patients with SMA and their families should learn how to monitor the respiratory function. Signs of respiratory insufficiency include deceased alertness, confusion, headache, pallor, and night-time restlessness.

Chest infections should be treated with antibiotics, postural drainage, chest physical therapy, and when appropriate, assisted ventilation. Patients and families should be educated on how to perform postural drainage techniques, assisted coughing, and breathing exercises.

Respiratory care for patients with SMA includes airway clearance techniques, respiratory exercises, chest physical therapy, and noninvasive ventilation, including intermittent positive pressure ventilation, bilevel positive airway pressure ventilation, and negative

scoliosis progresses, external bracing such as thoraco-lumbo-sacral orthosis can be used to provide support and to apply forces to realign the vertebral column. External bracing is used to reduce, prevent, or slow the progression of scoliosis.16 Surgical correction of scoliosis is required for patients to stop the progression of scoliosis and to maintain function and respiratory reserve.22 The decision and timing of surgical intervention are based on degree of scoliosis, curve progression, pulmonary function, and bony maturity.30 Surgical correction of spinal fusion is indicated to prevent further progression and deterioration of scoliosis and respiratory function. The outcomes of spinal stabilization include improved sitting balance, endurance and cosmetics30 and slowed pulmonary progression. Intensive preoperative and postoperative physical therapy is required to prevent respiratory complications, and loss of strength or function after spinal fusion.13 Orthotic intervention, new wheelchair or wheelchair modification are likely to be required after the surgeries and

Lung diseases resulting from weakness associated with SMA are the most common and most serious complications of SMA.12 Respiratory impairments place the patient at risk for respiratory tract infections, and pulmonary insufficiency/failure, and are the major causes

The key respiratory problems in SMA are impaired cough with poor clearance of lower airway secretions; hypoventilation; chest wall and lung underdevelopment; and recurrent infections.30 Sleep-disordered breathing resulting from hypoventilation is common in SMA. Cardiopulmonary endurance reduces markedly once the child becomes wheelchair dependent. Increased weakness, decreased mobility level, and development of scoliosis are important factors to consider when assessing the respiratory function and progression of

Patients with SMA should be evaluated by a respiratory care specialist. Routine evaluation of respiratory function including pulmonary function testing should be done on a regular bases. Pulmonary function testing with forced vital capacity can be used as a baseline and as a predictor of respiratory reserve. Pulse oximeters can be used at home as to indicate when

Providing information about respiratory care and anticipated future needs is crucial to respiratory management of SMA.30 Patients with SMA and their families should learn how to monitor the respiratory function. Signs of respiratory insufficiency include deceased

Chest infections should be treated with antibiotics, postural drainage, chest physical therapy, and when appropriate, assisted ventilation. Patients and families should be educated on how to perform postural drainage techniques, assisted coughing, and breathing

Respiratory care for patients with SMA includes airway clearance techniques, respiratory exercises, chest physical therapy, and noninvasive ventilation, including intermittent positive pressure ventilation, bilevel positive airway pressure ventilation, and negative

alertness, confusion, headache, pallor, and night-time restlessness.

should be included in the preoperative plan of care.

**7.8 Management of respiratory complications** 

of morbidity and mortality.

respiratory complications.

exercises.

the child is not ventilating properly.12

pressure ventilation. Ventilatory assistance might be used for patients with respiratory failure.

#### **7.9 Genetic counseling**

Genetic counseling for patients or parents who wish to have another child is extremely important. SMA genetic testing can be used for carrier detection and detection of an affected fetus.

#### **7.10 Vocational counseling**

Some patients with SMA are limited to occupations that do not require physical demands. Vocational counseling and planning may be beneficial early during high school years to facilitate transition from school to postsecondary education. Vocational counseling may be necessary to help adjustment to work settings.

#### **7.11 Psychological support**

Counseling and psychological support are important strategies in the management of SMA. Anxiety and depression can greatly impact patients and families' quality of life and their abilities to cope with the diseases and progressive changes in function and abilities. Formal counseling and psychological support should be available to assist patients and families coping with the severity and progression of the disease. Patients and families should be educated regarding the disease process and expectations and making sure that families are having the appropriate expectations for mobility and function.

#### **8. Summary**

Spinal muscular atrophy, a neuromuscular disorder, is one of the leading genetic causes of infant mortality. The disease is caused by deletion or mutation of the SMN1 gene and a reduction in the levels of functional SMN, resulting in selective death of spinal motor neurons. The type of SMA (I, II, III, or IV) is determined by the age of onset, the severity of symptoms, and the maximum function achieved. There are other rare types of SMA disorders with similar symptoms but they are caused by different genes other than SMN1 and genetic mutation. Spinal muscular atrophy is characterized by severe progressive muscle weakness, atrophy and hypotonia. Complications of muscle weakness include decreased mobility function, restrictive lung disease, contractures, orthopedic deformities and psychosocial problems. There is no cure for SMA. Treatment is usually supportive and focuses on management of the symptoms and preventing complications of muscle weakness. Pulmonary complication is a hallmark of the disease and is the main cause of death especially in type I and type II SMA. The prognosis and clinical course of SMA are highly variable, and they are more of a continuous spectrum with the age of death from infancy to normal life expectancy.

#### **9. References**

Bach, J., Baird, S., Plosky, D., Navado, J., & Weaver, B. (2002). Spinal muscular atrophy type 1: management and outcomes. *Pediatric Pulmonology*, Vol. 34, pp. 16-22.

Spinal Muscular Atrophy 233

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**Respiratory Muscle Aids in the Management of** 

Respiratory impairment results from primary disease of the lungs / airways or from impairment of the respiratory muscles. The proper identification of the respiratory impairment allows for proper management to decrease morbidity and mortality. Patients with neuromuscular impairment typically have hypoventilation or ventilator insufficiency/failure resulting in hypercapnia, hypoxia and an ineffective cough. In contrast, lung and airway diseases are characterized by hypoxia with eucapnia or hypocapnia, which often occur during an exacerbation resulting in acute respiratory failure (ARF). Often

Historically and even currently, when neuromuscular patients develop respiratory failure the traditional paradigm has been resorting to tracheostomy, resulting in increasing weakness of inspiratory muscles and loss of ventilator free breathing ability. In contrast, we and others with neuromuscular patient populations, successfully use a new management paradigm including noninvasive interfaces for intermittent positive pressure ventilation (NIV) in place of tracheostomy (TIV) to maintain not only life but also quality of life (Bach, 2010). It has been noted previously that patient populations prefer NIV over TIV both overall and specifically with regards to comfort, convenience, speech, swallowing, cosmesis, and safety (Bach, 1993). NIV can provide from intermittent up to continuous ventilatory support for patients with advanced neuromuscular disease who have normal lung tissue but respiratory muscle weakness. These concepts and techniques can be used for any patient with respiratory muscle weakness, for example high level traumatic spinal cord injury and polio patients (Bach, 1991; Bach & Alba, 1990; Bach et al., 1989). Even in patients with severely dysfunctional expiratory muscles with little to no vital capacity or maximum expiratory pressures, noninvasive pressure aids can provide effective cough flows. The inability to cough up secretions, due to an ineffective cough, often results in mucous plugging of the airways, but when using noninvasive ventilatory muscle aids, a cough can be augmented

physicians evaluate and treat both as respiratory insufficiency/failure.

for effective and sufficient secretion removal.

**1. Introduction** 

**Neuromuscular Respiratory Impairment** 

**to Prevent Respiratory Failure and** 

**Need for Tracheostomy** 

*Department of Physical Medicine and Rehabilitation,* 

A. J. Hon and J. R. Bach

*USA* 

*UMDNJ-New Jersey Medical School* 

Wong, B. (2006). Management of the child with weakness. *Seminars in Pediatric Neurology*, Vol.13, pp. 271-278. **13** 
