Spinal Deformities: Idiopathic Scoliosis and Kyphoscoliosis
Julian Allen, MD, FAAP
Introduction
•Scoliosis is a structural lateral and rotational deformity of the spine (Figure 24-1).
•Hyperkyphosis is an excessive degree of the normal thoracic anteroposterior curvature.
•Surgical correction is indicated for risk of progression through adulthood or pain in the case of severe kyphosis.
Etiology/Epidemiology
•Idiopathic scoliosis (IS) occurs in 1%–3% of adolescents and is usually defined by a Cobb angle >10°.
•The incidence of scoliosis in children with cerebral palsy is generally accepted to be about 20%–25%.
•The etiologic origin of IS is unclear. A genetic component is suggested by 75% concordance for the condition in monozygotic twins and 33% concordance in dizygotic twins. Family pedigrees suggest autosomal dominant inheritance, with incomplete penetrance.
•Multiple gene candidates related to collagen, fibrillin, and heparin N-sulfotransferase, vitamin D, and estrogen) are implicated in but not definitively known to cause IS.
•An imbalance of paravertebral muscles has been proposed and is also seen in the association of neuromuscular disease and scoliosis.
•Isolated hyperkyphosis can also be familial, such as in Scheuermann kyphosis, usually beginning during the adolescent growth spurt.
•Regarding epidemiology, juvenile IS starts in and progresses through adolescence; progression slows markedly or stops when growth stops. Adolescent patients with IS generally fare better than those with early-onset scoliosis, but lung function is still compromised as the severity of the curve increases (Figure 24-2). Curves >50° are associated with reduced vital capacity and dyspnea.
•Early-onset scoliosis, which occurs before the age of 8 years, accounts for only 4% of all IS cases.
•Isolated hyperkyphosis is rarely associated with cardiorespiratory sequelae but can be associated with obstructive lung diseases, such as cystic fibrosis, which leads to air trapping. Hypokyphosis can be associated with a tendency toward recurrent pneumothoraces (“straight back syndrome”).
Figure 24-1. Posteroanterior radiograph shows the mid-lower thoracic curvature of scoliosis. From Dede O, Demirkiran G, Yazici M. Update on the ‘growing spine surgery’ for young children with scoliosis. Curr Opin Pediatr. 2014; 26(1):57–63. http://journals.lww.com/co-pediatrics/Abstract/2014/02000/2014_Update_on_the__growing_spine_surgery__for.10.aspx
Figure 24-2. Forced vital capacity (FVC) as a function of scoliosis curve in degrees. MC = major curve, TC = thoracic curve. From Dreimann M, Hoffmann M, Kossow K, Hitzl W, Meier O, Koller H. Scoliosis and chest cage deformity measures predicting impairments in pulmonary function. Spine. 2014;39:2024–2033. http://journals.lww.com/spinejournal/Abstract/2014/11150/Scoliosis_and_Chest_Cage_Deformity_Measures.8.aspx
Pathophysiology
•The scoliotic chest wall, and to a lesser extent the lungs, are less compliant (stiffer) than normal (compare the normal respiratory system pressure-volume black curve with the severe respiratory system scoliosis red curve in Figure 24-3), which can lead to smaller lung volumes.
•Diaphragmatic function and strength may be diminished in scoliosis, probably as a result of a diminished area of apposition of the diaphragm to the inner chest wall. Flattening of the diaphragm due to the torsion on its fibers may make it less efficient. Patients with scoliosis have diminished maximal inspiratory (but not expiratory) pressures.
•Mild degrees of kyphoscoliosis do not usually lead to respiratory impairment. Lung restriction usually begins with scoliotic curves of ≥40°.
Clinical Features
•Pulmonary function tests (PFTs) in IS
—The typical pattern of lung function abnormality is respiratory system restriction. There is some evidence that scoliosis can also lead to a subtle obstructive defect or unevenness of gas mixing (ventilation).
—In general, lung volumes correlate inversely with the Cobb angle (Figure 24-2). This is probably a function of chest wall stiffness rather than respiratory muscle weakness, since (a) there is no correlation between lung volumes and measures of respiratory muscle strength and (b) there is positive correlation between chest wall compliance and lung volumes.
—One difficulty in interpreting PFT results in children with IS is the choice of the predicted value used when calculating the child’s percentage of predicted value. The predicted value of PFTs in normally developing children is most closely predicted by using standing height. In children with scoliosis, predicted value can be determined by using standing height, sitting height × 2 (in children >7 years old), or arm span (equal to height in normally developing children). The percentage predicted value in children with scoliosis will thus depend on the height value used. The percentage predicted value is greatest if actual height is used and is lowest if arm span is used.
•In severe disease with vertebral rotation, compression of central airways by anterior vertebral bodies described but extremely rare
•Exercise tolerance
—Children with IS have decreased maximal exercise capacity.
—As with PFTs, exercise limitation seems to be related to the degree of curvature.
—The 6-minute walk test result can also be diminished.
•Respiratory failure
—Respiratory failure is common in severe congenital scoliosis but rare in adolescent IS, at least during childhood and adolescence.
—When it does occur, it tends to occur perioperatively and in subjects with the most severe curves.
—Severe unrepaired scoliosis and kyphoscoliosis can cause both ventilatory defect leading to CO2 retention and ventilation-perfusion mismatch in compressed segments of lung, leading to hypoxemia.
—Isolated kyphosis rarely leads to respiratory impairment.
•Increased risk for atelectasis and/or pneumonia, especially in children with chronic comorbidities
Differential Diagnosis
The major differential is distinguishing idiopathic spinal deformity from other forms:
•Congenital, such as hemivertebrae
•Syndromic, with (eg, Jarcho-Levin and Jeune syndromes) or without (eg, VATER [vertebral defects, imperforate anus, tracheoesophageal fistula, radial and renal dysplasia], neurofibromatosis) thoracic insufficiency syndrome
•Neuromuscular, such as muscular dystrophy and spinal muscular atrophies
Diagnostic Considerations
•The normal spine has an anteroposterior curvature between 20° and 40° and a lateral curve of <10°. Hypokyphosis is a curvature <10°, and hyperkyphosis is a curve >40°.
•Physical examination
—Most scoliosis curves will be easily demonstrated at physical examination, except for the most mild cases.
—While standing behind the patient, have him or her perform the forward-bending test to look for thoracic asymmetry. This can be conducted with or without the use of a scoliometer, which is now available and validated as a smart phone app, to help discern more mild curves (Figure 24-4).
—Hyperkyphosis can be observed by standing at the patient’s side during forward bending.
•PFTs can help indicate the severity of lung function involvement, as well as indicate whether surgery carries increased intra- and postoperative risk, while recognizing that only severe curves generally affect lung function.
•Radiologic studies include spine series with measurement of the Cobb angle (Figure 24-1) and flexibility studies.
•Computed tomography and unenhanced static or dynamic magnetic resonance imaging of the entire spine are becoming commonplace and can help better assess the rotational component.
Figure 24-4. Forward bending performed with the use of a scoliometer. From Weinstein SL, Dolan LA, Cheng JCY, Danielsson A, Morcuende JA. Adolescent idiopathic scoliosis. Lancet. 2008;371:1527–1537. Copyright 2008, with permission from Elsevier.
•Nonsurgical approaches may be warranted.
—Watchful waiting is usually advised for curves <25°.
—Physical therapy is sometimes used to prevent progression of such curves, but there is no evidence that it circumvents the need for surgery. It is commonly used in Europe (eg, the Schroth method).
—Bracing may be effective.
•In adolescents with curves between 20° and 45°, bracing can be
used to prevent progression of the curve to 50°. In the Bracing in Adolescent Idiopathic Scoliosis Trial, or BRAIST, a randomized cohort arm had a success rate of 75% in the brace group and 42% in the observation group.
•A positive association between hours of brace wear and the rate of treatment success was found; patients who wore the brace for >12.9 hours daily had success rates of 90%–93% versus 41% in patients who wore the brace for 0–6 hours daily.
—Early casting may be performed for infantile forms of scoliosis.
▪Young children with milder curves demonstrate a higher rate of improvement with early casting.
▪Casts that derotate rather than just straighten the spine demonstrate a higher success rate.
•Scoliosis surgery may be indicated in some cases.
—Usually reserved for curves >45°
—Spinal fusion
▪In adolescent IS, spinal fusion should be reserved for patients who have already undergone substantial spinal growth but not delayed until growth is nearly completed.
▪Since curves in adolescence progress until growth ceases, the timing of spinal curve repair also needs to have the current Cobb angle taken into account, as well as the rate of progression and projected severity of curvature.
—Growing rods
▪With growing rods, the spine will continue to grow, even if fused at an earlier age, while controlling the scoliotic deformity, allowing for more prompt intervention (Figure 24-5).
▪New magnetically controlled growing rods are available and recently approved by the Food and Drug Administration for the treatment of early-onset scoliosis. They prevent the need for repeated surgical lengthening procedures and can be placed as an outpatient procedure in the office.
•Management of respiratory failure
—Patients with severe unrepaired kyphoscoliosis and respiratory failure are often successfully treated with nocturnal noninvasive ventilation.
Figure 24-5. Frontal radiograph demonstrates implanted growing rods. Lengthening is achieved by distraction through the telescopic connectors. From Dede O, Demirkiran G, Yazici M. Update on the ‘growing spine surgery’ for young children with scoliosis. Curr Opin Pediatr. 2014;26(1):57–63. http://journals.lww.com/co-pediatrics/Abstract/2014/02000/2014_Update_on_the__growing_spine_surgery__for.10.aspx
Expected Outcomes/Prognosis
•IS can progress throughout duration of growth and then generally remains static.
•The risk of progression is related to both degree of the curve at initial discovery and the amount of time left for growth. A curve of >40° discovered at age 12 has a nearly 100% chance of progression, while a curve of <30° discovered at age 16 has only a 10% chance of progression.
•The main reason for spinal fusion is to prevent this progression to avoid the natural history reported in untreated patients with large curves who have increased pain and disability.
•Long-term outcomes of scoliosis surgery on lung function vary with surgery performed, as well as the severity of the curve. The extent of actual correction of the spinal deformity varies markedly and appears to be related to the flexibility of the child’s spine.
•Difficulties in interpreting the effects of surgery on lung function arise from whether absolute or percentage predicted values are used. Several studies have shown improvement in the former but not the latter. Furthermore, for percentage predicted value interpretation, it must be taken into account whether standing height or arm span is used.
•Poor preoperative lung function need not be prohibitive. Experienced multidisciplinary teams that include pulmonologists, nutritionists, and anesthesiologists report positive outcomes of surgical treatment for pediatric patients with forced vital capacity <40%. Such severe cases may require pre- or postoperative noninvasive ventilation, or both.
•Early-onset scoliosis, such as infantile and juvenile onset before the age of 8 years, has worse outcomes. Up to 40% of such patients die of respiratory failure if untreated, with a mean age of 54 years at death, although death in adolescence has been reported.
•In infantile and early-onset IS, spinal fusion does not improve outcomes; because it can create thoracic insufficiency syndrome, it is not a good option in the young child. The rate of vertebral growth after spinal fusion is reduced by approximately half, and in adulthood, these patients have permanently shortened spines. Vital capacity <50% is seen in 40%–60% of subjects who undergo early fusion. Growth-friendly instrumentation (ie, vertical expandable titanium rib, growing rods, magnetically controlled growing rods) are indicated for the surgical treatment of early-onset scoliosis and may change these outcomes. Long-term studies of lung function are pending.
•Prompt referral to an orthopedic surgeon is necessary when a spinal curve is first noticed, so that curve quantitation and progression can be assessed and followed up.
Prevention
•There is little evidence that scoliosis can be prevented, although exercise programs have been undertaken to do so. Rotational exercises may be of temporizing value, and only in mild cases.
Resources for Families
•Patients and Families (Scoliosis Research Society). www.srs.org/patients-and-families
•What Is Scoliosis? (U.S. Department of Health and Human Services). www.niams.nih.gov/Health_Info/Scoliosis/scoliosis_ff.pdf
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CHAPTER 11: LARYNGOMALACIA
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CHAPTER 12: VOCAL FOLD PARALYSIS
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CHAPTER 13: SUBGLOTTIC STENOSIS
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CHAPTER 14: TRACHEOMALACIA, VASCULAR RINGS AND SLINGS, AND BRONCHOMALACIA
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CHAPTER 15: TRACHEOESOPHAGEAL FISTULAS
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CHAPTER 16: PULMONARY HYPOPLASIA
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CHAPTER 17: PULMONARY SEQUESTRATION
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CHAPTER 18: OVERINFLATION AND CONGENITAL LOBAR EMPHYSEMA
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CHAPTER 19: CONGENITAL PULMONARY AIRWAY MALFORMATION
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CHAPTER 20: BRONCHOGENIC CYSTS
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CHAPTER 21: PULMONARY ARTERIOVENOUS MALFORMATIONS
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CHAPTER 22: CHEST WALL DEFORMITIES: THORACIC INSUFFICIENCY SYNDROME
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CHAPTER 23: PECTUS DEFORMITIES: PECTUS EXCAVATUM AND PECTUS CARINATUM
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CHAPTER 24: SPINAL DEFORMITIES: IDIOPATHIC SCOLIOSIS AND KYPHOSCOLIOSIS
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