SUPPLEMENT
The Natural History of Early-onset Scoliosis
Lori A. Karol, MD
Background: Early-onset scoliosis (EOS) is defined as the diagnosis
of a spinal deformity before the age of 5 years. It can be divided into
idiopathic, neuromuscular/syndromic, and congenital etiologies.
Methods: The literature on the natural history of EOS was
summarized.
Results: The natural history varies with the etiology of EOS.
Downloaded from http://journals.lww.com/pedorthopaedics by BhDMf5ePHKbH4TTImqenVCujjNLp0k9kIm7WKefVe9OSzGJC6dnTN8Mp1Nmejywa on 12/08/2019
Idiopathic curves may benefit from early serial casting. The
natural history of neuromuscular and syndromic scoliosis is
highly dependent on the natural history of the underlying dis-
order. Congenital scoliosis has a variable prognosis depending on
the location and extent of the congenital malformations.
Conclusions: Treatment of children with EOS is customized to
the particular disorder. While lack of treatment has been shown
to lead to increased mortality, extensive early definitive fusion
may lead to thoracic insufficiency. Delaying definitive surgery
and the use of growing instrumentation may provide benefit in
maintaining pulmonary health.
Clinical Relevance: Potential disturbance of growth must be
considered in the treatment of young children with scoliosis.
Key Words: early-onset scoliosis, congenital scoliosis, Mehta
cast, pulmonary function
(J Pediatr Orthop 2019;39:S38–S43)
BACKGROUND
Early-onset scoliosis (EOS) is comprised of a myriad
of conditions, united by the documentation of scoliosis in
young children. While authors do not agree on the older age
limit at the time of diagnosis for EOS, with some reports
including children 9 years or below at presentation, for the
purpose of this article EOS will be defined as the onset of
scoliosis at age 5 years or below.
EOS is not a diagnosis, but rather defined as an age of
onset of spinal coronal plane deformity. As such, EOS in-
cludes spinal deformity resulting from congenital malfor-
mations, from neuromuscular conditions, from inherited
bone dysplasias and syndromes, and in idiopathic cases with
no underlying disorder. As EOS results from such a wide
variety of etiologies, the natural history varies widely and in
From the Texas Scottish Rite Hospital for Children, Dallas, TX.
The author has received nothing of value pertaining to this manuscript
nor was the work funded by an outside source.
The author declares no conflict of interest.
Reprints: Lori A. Karol, MD, Texas Scottish Rite Hospital for Children,
2222 Welborn, Dallas, TX 75219. E-mail: lori.karol@tsrh.org.
Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.
DOI: 10.1097/BPO.0000000000001351
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many cases is established by the child’s diagnosis which
produces the spinal deformity. For example, the natural
history of scoliosis occurring in infancy or early childhood
due to spinal muscular atrophy is dependent on the form of
spinal muscular atrophy rather than on the presence of
scoliosis. Similarly, the natural history of patients who have
bone dysplasias may be more dependent on the form of
dysplasia than on the presence and magnitude of the coronal
plane spinal deformity. It is of utmost importance for the
treating physician to be familiar with the associated medical
and surgical abnormalities associated with the various di-
agnoses in children with EOS.1
INFANTILE IDIOPATHIC SCOLIOSIS (IIS)
Patients diagnosed by 3 years of age or below with
scoliosis without congenital vertebral malformations, neural
axis abnormalities, and syndromes are labeled as having IIS.
These children are considered to be otherwise normal, pre-
senting with scoliosis that is either noted clinically or in-
cidentally on chest or abdominal radiographs.
The natural history of IIS is linked to the likelihood of
curve progression. Curve progression can be predicted based
on several factors. Mehta2 was instrumental in establishing
the natural history of IIS. Deformity progression is linked to
the curve magnitude at presentation, being either ≤ 25 or
≥ 25 degrees. Smaller curves are more likely not only to be
nonprogressive, but, unlike in adolescent idiopathic scoliosis,
to actually resolve with age. In curves whose Cobb angles
measure > 25 degrees, the presence of overlap of the rib
heads at the apex of the curve onto the vertebral bodies on an
anteroposterior radiograph, labeled as the “phase” of the rib,
is predictive. Those patients with phase 2 ribs which overlap
the margins of the vertebrae are more likely to progress, and
therefore merit treatment. Finally, in patients who do not
have rib overlap (phase 1 ribs), quantification of the rib
vertebral angle difference of Mehta can help sort patients
who are unlikely to progress, with rib vertebral angle differ-
ence <20 degrees, from those who are likely to worsen.
The natural history of untreated progressive IIS is dis-
mal, with a report by Scott and Morgan documenting pro-
gression of curves from 30 to 100 degrees. Moreover, 4
patients of 28 died before the age of 20 years of cardiores-
piratory disease.3 Relentless curve progression, in the absence
of treatment, results in increasing chest wall deformity. Rib
rotation and curve progression produce restrictive pulmonary
disease with worsening pulmonary function as documented
by diminishing forced vital capacity (FVC) and total lung
volume. Untreated, the spinal deformity produces chest wall
rotation, which obliterates the space available for the lungs.
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J Pediatr Orthop  Volume 39, Number 6 Supplement 1, July 2019
Pehrsson and colleagues studied mortality in idio-
pathic scoliosis, dividing the patients by age of onset. They
found no significant increase in mortality in patients with
adolescent-onset spinal deformity, the intermediate effect
on lifespan in children diagnosed between the ages of 3
and 10 years, but significantly earlier age at death in 29
untreated children diagnosed before the age of 3 years
with otherwise idiopathic scoliosis.4 The earlier the ap-
pearance of spinal deformity, the greater the disturbance
of the chest with limited ability of the lungs to grow
normally.
Because of the dismal natural history of untreated
IIS, today’s spinal surgeon is tasked with identifying those
patients likely to progress, and treating those children in a
manner that facilitates pulmonary development and halts
curve progression. The application of serial derotation
casts in the manner of Mehta can halt or limit progression
of scoliosis, and in some children, correct the curve in the
long term.5 Mehta6 reported 2 groups of patients in which
she applied serial derotation casts. In her first group, the
children were very young, averaging 1 year and 7 months
at treatment, and had smaller curves averaging 32 degrees.
After the application of a mean of 5 casts, and then brace
treatment, curves resolved and required no further treat-
ment. In these children, the natural history of progressive
cardiopulmonary compromise was altered with a favor-
able outcome. A second group of patients was slightly
older (average age, 2.5 y) and had larger curves (average,
52 degrees) at the onset of serial casting. While the curves
did not resolve, posterior spinal fusion was delayed until
FIGURE 1. A, The 32-month-old girl with ulnar dysplasia and idiopathic infantile scoliosis measuring 37 degrees. B, She was
treated with serial Mehta derotation casts. C, At age 12, scoliosis measures 29 degrees. No surgical treatment has been performed.
She continues to wear a spinal orthosis part-time.
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The Natural History of Early-onset Scoliosis
the age of above 10, and one may deduct that lifespan
should be normal in these treated children.
Currently, Mehta derotation serial casting is an im-
portant part of the armamentarium of treatment options
for not only IIS, but also syndromic and select congenital
patients. Studies have shown a delay in the need to begin
growth-friendly expansion surgeries, with a lower com-
plication rate in patients in whom invasive surgery is
delayed4 (Figs. 1A–C).
CONGENITAL SCOLIOSIS
Congenital scoliosis is defined as spinal deformity re-
sulting from the presence of ≥ 1 vertebral malformations.
These malformations occur during embryogenesis at the fetal
age of 6 weeks, a time period critical for the proper formation
of the heart and kidneys as well. As many patients with
congenital scoliosis have concomitant cardiac malformations,
their prognosis in some children is directly related to the se-
verity of their cardiac disease rather than their scoliosis.
McMaster and Ohtsuka7 published the seminal paper
on progression in congenital scoliosis. Patients who
have balanced congenital malformations, such as block
vertebrae that are congenitally fused together, have little risk
of curve progression, and their natural history is favorable.
Those babies with unbalanced malformations, such as
hemivertebrae contralateral to fused unilateral bars, have a
very high likelihood of progression of scoliosis with growth.
In the past, these children were treated with spinal fusion as
soon as curve progression was documented on serial radio-
graphs. After the publication of the crankshaft phenomenon
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Karol
FIGURE 2. A, The 7-year-old boy with an L4 hemivertebra. B, The patient was treated with an anterior and posterior hemivertebra
resection and short fusion. He remains well balanced 3 years postoperatively.
by Dubousset,8 early anterior and posterior combined fusion
became the treatment of choice for young children with
progressive congenital scoliosis. It was believed that the
obliteration of continued curve progression due to asym-
metric growth by definitive fusion was necessary to reduce
the likelihood of future severe spinal deformity and car-
diopulmonary compromise. Not until 2002 were studies
published negating this belief.
Goldberg and colleagues followed 43 patients who
had undergone in situ fusion of congenital scoliosis (37
posterior only) to skeletal maturity. Despite successful
fusion of the congenital segment, revision surgery was
required in 26% due to progression of deformity.9
While complex congenital curves can result in severe
deformity, simple segmented lumbar and lumbosacral
hemivertebrae can produce progressive trunk shift due to
worsening lumbosacral takeoff. These young children can
be successfully treated with hemivertebral resection and
limited (2 or 3 levels) spinal fusion. Recent reports of the
results of resection of these hemivertebrae are positive,
and the natural history of these treated limited fusions is
likely benign following successful resection and fusion
(Figs. 2A, B).10–12
More problematic are the complex multisegment
congenital spinal deformities. These patients have limited
growth potential in the abnormal vertebrae, which can
result in shortening of the thoracic spine and therefore
space available for the lungs. In addition, patients with
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J Pediatr Orthop  Volume 39, Number 6 Supplement 1, July 2019
thoracic congenital deformities frequently also have ab-
normalities in the ribs, with either rib fusions which limit
intercostal movement during respiration, or missing ribs,
resulting in paradoxical thoracic movement with dia-
phragmatic breathing. These children present the greatest
difficulty to the pediatric spine surgeon.
Robert Campbell coined the term thoracic in-
sufficiency syndrome in 2003, defined as the inability of
the thorax to support normal respiration or growth.13 In
his landmark paper, he proposed that thoracic in-
sufficiency can result from progressive spinal deformity,
from rib abnormalities, and/or from early fusion which
limits the growth potential of the spine, and therefore the
chest (Fig. 3).
THORACIC INSUFFICIENCY SYNDROME
Thoracic insufficiency syndrome is prevalent in pa-
tients with EOS because the presence or the fusion of the
spinal deformity results in a lack of spinal growth. Dime-
glio contributed greatly to the field of EOS by publishing
studies on the growth of the thoracic spine.14 Thoracic
growth is most rapid in the first 5 years of life, then de-
creases in velocity until the adolescent growth spurt. During
the period of rapid early growth, the lungs also grow, with
multiplication of alveoli occurring most rapidly until the
age of 2. It has been proposed that the number of alveoli is
established by the age of 8 years.15,16 Therefore, fusion of
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J Pediatr Orthop  Volume 39, Number 6 Supplement 1, July 2019
FIGURE 3. The 17-year-old girl who expired of thoracic in-
sufficiency syndrome 14 years following anterior and posterior
fusion of congenital scoliosis from C6 to T5. Her thoracic
height is <15 cm. She has significant chest wall congenital
deformity as well from rib abnormalities.
the spine before this age results in inadequate thoracic
volume to support the growth of the lungs.
Pulmonary function following early thoracic fusion
has been studied in both IIS and congenital scoliosis pa-
tients. Day et al17 measured pulmonary function in 36 pa-
tients with a variety of congenital scoliosis deformities,
finding FVC measured only 68% of normal expected values
if children had been fused. Goldberg and colleagues pub-
lished the pulmonary function results of patients with IIS
following early fusion. FVC measured only 41% of predicted
normal values if patients were fused before age 10, com-
pared with 68% if fused at an older age.18
Our center published a longer-term study of the
pulmonary function of patients with EOS following de-
finitive spinal fusion in 2008.19 In total, 28 patients re-
turned for pulmonary function test testing at an average of
11 years following anterior and posterior spinal fusion.
The majority of the patients had congenital scoliosis, but
there were smaller numbers who had neurofibromatosis,
syndromes, or infantile idiopathic curves. All patients had
been fused before the age of 9 years, averaging 3.3 years at
the time of surgery. Results were sobering. FVC averaged
58% predicted, but was as low as 22% predicted in some
patients. A severe restrictive pattern of pulmonary disease,
defined as an FVC < 50% normal predicted value, was
present in 43% of the tested population. FVC was statis-
tically correlated with the percent of the thoracic spine
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The Natural History of Early-onset Scoliosis
that had been fused, and was strongly related to the length
of the thoracic spine from T1 to T12 on the anterior-
posterior radiograph. Four patients already had thoracic
insufficiency syndrome, and used respiratory assistance
such as supplemental oxygen or bilevel positive airway
pressure at night. Interestingly, patients who achieved 22
cm of thoracic height measured between T1 and T12 had
near normal pulmonary function. This has led many EOS
surgeons to adopt 22 cm as a goal in thoracic growth.
Although there are isolated case reports of maintained
long-term pulmonary function following early spinal fusion,20
other centers have published series with similar unfavorable
results as ours. Emans et al21 noted that FVC averaged 62%
predicted in their early fusion patients. Bowen et al22 and
Vitale et al23 each reported reduced FVC in studies of EOS
patients with shorter postoperative follow-up.22,23
Pulmonary volumes normally decline during adulthood,
beginning in the mid-fourth decade. Pehrsson et al24 stated
that when FVC measures <43% predicted, severe pulmonary
compromise will occur as the lung volume deteriorates in
adulthood. It may be presumed that EOS patients who have
diminished pulmonary volumes at the end of growth will have
a high mortality rate due to respiratory failure as further lung
volume is lost during the normal aging process. Our center is
studying the natural history of respiratory decline in the pa-
tients who were tested in the 2008 study, finding an average of
20% loss of FVC over the last 10-year period in these com-
promised patients.
GROWTH-SPARING TREATMENT
There is great interest currently in the concept of
continued growth of the spine and chest while treating the
spinal deformity in EOS patients. The VEPTR device
(vertically expandible prosthetic titanium rib) allows fix-
ation on the ribs, the ribs and spine, or the ribs and pelvis,
and through repetitive surgical expansions, spinal and
thoracic growth is enabled.25,26 Similarly, dual sub-
muscular spine to spine growing rods have been successful
in allowing continued spinal growth as a result of multiple
surgical rod lengthenings. Unfortunately, these techniques
carry a high complication rate, ranging from infection,
loss of fixation, inadvertent fusion, and progressive ky-
phosis. Bess and the Growing Spine Study Group pub-
lished that there is a 24% complication rate for each time a
growing rod construct is surgically lengthened, and a 13%
decrease in complications for each additional year of age
at the time of initial growing rod implantation.27 Rod
implantation below age 7 years, increasing kyphosis, and
more severe major curve magnitude have been shown to
correlate with a higher rate of complications overall.28
Such surgical difficulties, as well as the potential harmful
effect of repetitive anesthesias, has led to the adoption of
the magnetically expandible growing rod. Problems with
loss of fixation and failure of the implants in some cases
continue, however29 (Figs. 4A, B). In addition, due to the
frailty of many children with EOS and their serious
comorbidities, mortality rates of up to 18% have been
published even with growth-friendly surgery.30
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Karol J Pediatr Orthop  Volume 39, Number 6 Supplement 1, July 2019

FIGURE 4. A, The 3-year-old boy with Marfan syndrome and scoliosis measuring 100 degrees. He has failed serial Mehta casting.
B, Radiograph at age 9 years following halo-gravity traction, traditional submuscular growing rods, with replacement with
magnetically expandable growing rods. He has had unplanned surgeries for loss of distal fixation and loss of proximal fixation, but
has realized 6 cm of thoracic height increase over 6 years. Curve magnitude is now 47 degrees.

Early studies are now being published on the pulmo-
nary outcome of patients with EOS who are treated with
growth-sparing instrumentation. Glotzbecker et al31 found
that growth of the thoracic spine is realized with repetitive
expansions at 6.5-year follow-up. Motoyama et al32 noted
that in short-term follow-up, the FVC of 10 children treated
with expandible instrumentation without fusion increases,
but the percent predicted does not improve up to 3 years
despite treatment. Johnston et al recently published on the
pulmonary results of growing rod treatment of a hetero-
genous group of 12 patients with EOS, finding that FVC
averaged 55% predicted at final follow-up.33
CONCLUSIONS
While some patients do thrive with growth-friendly
surgical treatment, there remains a compromised group of
patients who still have a poor prognosis for pulmonary
longevity in adulthood. Future studies must continue to
focus on stratifying results based on the specific diagnoses of
groups of patients with EOS. Vitale’s classification system is
a valuable tool in comparing similar patient groups with
EOS.34 One should expect that successful treatment that
encourages growth of the spine and chest should lead to
favorable outcomes in patients with early-onset idiopathic
scoliosis. Patients with progressive neuromuscular con-
ditions, such as the congenital muscular dystrophies and
(until recently) spinal muscular atrophy, may realize spinal
growth with expandible instrumentation, but the worsening
muscle weakness may negate the positive effects of the
growth-friendly implants. Patients with bone dysplasias that
limit skeletal growth may experience improvement in spinal
deformity, but have intermediate results compared with their
normal-growing peers. The intimate relationship between
the vertebral alignment and growth and the 3-dimensional
chest and rib volume must continue to be at the forefront of
outcomes research in this difficult patient population.
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