REVIEW ARTICLE

Musculoskeletal development in patients with

Down syndrome
Corey Dupre, MPAS, PA-C; Emily Weidman-Evans, PharmD, BC-ADM

ABSTRACT
Down syndrome is a chromosomal aneuploidy that
results in disruptions in multiple body systems, includ-
ing musculoskeletal function. Early intervention to focus
on bone mineral density, gait correction, agility, balance,
and muscle strength is imperative in order for patients to
achieve maximum potential.
Keywords: Down syndrome, trisomy 21, musculoskeletal,
exercise, early intervention, gait correction

D
own syndrome is a genetic disorder that causes
physical and mental delays in patient development.
John Langdon Down, MD, first characterized the
symptoms in 1866.1 It was not until 1959 that Jérôme
Lejeune discovered that these patients possess a full or
partial extra copy of the 21st chromosome, giving rise

CONTRIBUTOR: BSIP SA / ALAMY STOCK PHOTO

to another name synonymous with Down syndrome,
trisomy 21.2

EPIDEMIOLOGY AND CAUSE

Down syndrome is now the most common chromosomal
aneuploidy, affecting one in every 691 newborns in the
United States, with a prevalence of 250,700 Americans
and an incidence of 6,000 newborns in the United States
each year.3,4 The incidence has increased partially due to
couples having children when the mother is older. Advanced
maternal age is a highly associated risk factor for Down
syndrome; incidence increases from 1:1,300 at age 25 years
to 1:25 at age 49 years.3 Paternal age has not been shown
to be an independent risk factor for Down syndrome.3 The
only other risk factor associated with Down syndrome is
if the mother herself has Down syndrome, as there is no
evidence showing that men with Down syndrome can
father a child.5
At the time this article was written, Corey Dupre was a student in the
PA program at Louisiana State University Health Sciences Center
(LSUHSC) in Shreveport, La. He now practices at South Louisiana
Medical Associates in Houma, La. Emily Weidman-Evans is a clinical
associate professor in the PA program at LSUHSC. The authors have
disclosed no potential conflicts of interest, financial or otherwise.
DOI:10.1097/01.JAA.0000526779.77230.79
Copyright © 2017 American Academy of Physician Assistants
The life expectancy of an average patient with Down
syndrome also has increased significantly over the last cen-
tury. In 1929, babies with Down syndrome were expected
to live only 9 years; now, the average life expectancy is 60
years.6 This increase in life expectancy can be attributed to
advances in medical technology including cardiac surgery
and general health management.7 As the life expectancy
increases, so does the need for research to determine the
effects aging has on patients with Down syndrome and what
can be done to improve their quality of life.
CLINICAL PRESENTATION
Down syndrome can be diagnosed prenatally with screening
or diagnostic tests (including karyotyping via amniocentesis
or chorionic villus sampling or sonographic measurement
of nuchal lucency) and at birth with karyotyping or based

38 www.JAAPA.com Volume 30 • Number 12 • December 2017

Copyright © 2017 American Academy of Physician Assistants


Key points
Down syndrome disrupts multiple body systems, including
musculoskeletal function.
Early intervention to focus on bone mineral density,
gait correction, agility, balance, and muscle strength is
imperative.
Exercise programs should be innovative to keep patients
engaged.
on the presence of certain physical traits, including hypoto-
nia, small brachycephalic head, epicanthal folds, flat nasal
bridge, upward-slanting palpebral fissures, small mouth,
small ears, excessive skin at the nape of the neck, a single
transverse palmar crease, short fifth finger with clinodactyly,
and a deep plantar groove between the first and second
toes.8,9
As patients with Down syndrome age, they face numer-
ous medical conditions affecting the cardiac, gastrointes-
tinal, respiratory, and musculoskeletal systems as well as
hearing, vision, and thyroid function.10 Researchers have
not yet determined why the extra chromosome causes so
many medical abnormalities, only that these anomalies
cause signs of premature aging.11
Patients with Down syndrome suffer from many skeletal
issues because their genetic makeup affects their bone
mineral content and density.11 This predisposes patients to
fractures and conditions such as osteoporosis as they age.
Patients also have less-than-normal muscle strength in their
hands and lower extremities.12,13 The resulting deficits in
muscle strength and tone severely affect the achievement
of developmental milestones such as independent walking
in younger patients and the activities of daily living in older
patients.13,14 Because patients with Down syndrome have
smaller-than-normal cerebellums, they have muscle tone
and coordination disturbances that predispose them to falls
and balance issues.15,16 Further studies are needed to learn
how to limit the overall effect of musculoskeletal issues on
the lives of patients with Down syndrome.
ASSESSMENT AND DIAGNOSIS
Biochemical markers typically diagnose Down syndrome
prenatally but diagnosis should be confirmed by karyotyp-
ing, either prenatally or following birth.17 As the patient
ages, complete evaluations of the musculoskeletal system
may reveal a wide range of physical examination findings
that contribute to the irregularities experienced by these
patients. During the first 2 years of the child’s life, assess
for atlantoaxial instability from laxity in the ligaments of
that joint, and alert parents of the need for cervical stabi-
lization to prevent cervical spinal cord injury from atlan-
toaxial subluxation.8
Calculate and document body mass index (BMI) in
patients older than age 2 years; obesity is common among
patients with Down syndrome and may worsen some
JAAPA Journal of the American Academy of Physician Assistants
Copyright © 2017 American Academy of Physician Assistants
Musculoskeletal development in patients with Down syndrome
musculoskeletal complications.16 Once the patient is able
to walk, assess his or her gait. Most patients have a Chap-
linesque gait with external rotation of the hips, flexed
knees, and externally rotated tibias.18 This type of gait may
increase stability but requires increased patient energy
compared with normal gait patterns.19 This gait is mainly
due to increased ligament laxity and muscle hypotonia in
the patient’s lower extremities. Other musculoskeletal
findings that may contribute to gait disturbances include
pes planovalgus (extreme pronation of the feet) and severe
pes plantus (flat feet).18
Assessing grip strength and manual dexterity in patients
with Down syndrome is important because patients usually
have decreased manual motor control.8,12 Referring the
patient and parents to a Down syndrome specialist, dieti-
tian, pediatric specialist, and support groups is highly
recommended and encouraged.8
As musculoskeletal abnormalities begin to emerge, var-
ious diagnostic tests may be needed to quantify their
severity. These include dual radiograph absorptiometry
scans to measure bone mineral density, using a dynamom-
eter to assess muscle strength, using high-speed cameras
to assess joint kinematics, and surface electromyograms
(EMGs) to measure muscle response.11,12,14,16
Because the musculoskeletal deficits in patients with Down
syndrome need to be precisely quantified, clinicians must
differentiate Down syndrome from other conditions that
may present similarly. Down syndrome shares genotypic
similarities with other aneuploidy conditions such as trisomy
13 and trisomy 18, and both can be excluded as possible
diagnoses through chromosomal analysis.8 Down syndrome
shares phenotypic similarities of joint hypermobility and
ligament laxity with conditions such as Ehlers-Danlos syn-
drome and Prader-Willi syndrome.20,21 Chromosomal anal-
ysis can effectively differentiate among all these conditions.
TREATMENT
Treatment of musculoskeletal abnormalities in patients
with Down syndrome is a continuous effort that should
begin early in life. Studies show that calcium supplementa-
tion and exercise training greatly improves bone mineral
density, bone mineral content, and prevent osteoporotic
conditions later in life.22 This regimen should be initiated
during childhood and adolescence in order to achieve peak
bone mineral density.23
Improving muscle strength, agility, and balance are other
concerns that should be addressed throughout the patient’s
life. Two recent studies showed that a 6-week exercise
program improved muscle strength in the lower extremity
and balance in adolescents with Down syndrome.13,15 Gupta
and Rao also determined the muscle changes to be due to
increased neural recruitment. The short length of the study
made it unlikely that the changes were due to enlarged
muscle mass.15 Chen and colleagues further demonstrated
that lower extremity exercise increased the grip strength
www.JAAPA.com 39
REVIEW ARTICLE
in patients with Down syndrome.12 These studies show
that a moderate amount of exercise can significantly
improve muscle strength across the entire body, helping
patients with muscle hypotonia, and improving balance
issues by strengthening muscles of the lower leg.
Addressing gait abnormalities early in life can improve
muscle hypotonia, muscle strength, and gait control.21 Wu
and colleagues compared high-intensity with low-intensity
treadmill interventions in infants before the onset of walk-
ing and concluded that high-intensity intervention can
improve gait and energy use during walking.14
PROGNOSIS AND COMPLICATIONS
Exercise programs and an active lifestyle can significantly
improve gait abnormalities, bone strength, and muscle
strength in patients with Down syndrome. Exercise also helps
prevent osteoporotic conditions later in life, other musculo-
skeletal injuries, and interruption in independence.11,12,15
Some complications may arise when patients begin an
exercise regimen. Because of ligament laxity and muscle
hypotonia, some patients may experience musculoskeletal
injuries.15 Patients also may have trouble adhering to the
exercise program if they find the exercises difficult to per-
form and the repetitiveness of the exercises boring.13 Virtual
reality games such as game console-based sports activities
may make exercise goal-directed and entertaining.13
PREVENTION AND PATIENT EDUCATION
Explain to patients with Down syndrome and their care-
givers why abnormal gaits need to be corrected and why
patients should exercise and remain physically active to
prevent musculoskeletal deficiencies later in life. Prevention
begins early with the initiation of gait strategy programs
designed to avoid compensatory gait tactics and to estab-
lish an optimal gait pattern.21 Rigoldi and colleagues sug-
gested that the preferred order is to correct abnormal gait
before starting a muscle-strengthening program.20 Muscle-
strengthening programs decrease ligament laxity and help
prevent balance issues.13,15 Exercise also can strengthen
bones and prevent osteoporosis later in life.11,23
Give parents of newborns with Down syndrome adequate
information on the positive effects of gait training and
exercise programs on the musculoskeletal system. Refer
families to a Down syndrome specialist.
CONCLUSION
Down syndrome causes musculoskeletal deficits that
disrupt patients’ ability to develop properly and maintain
their activities of daily living. These deficits can be over-
come by using calcium supplementation along with exer-
cise programs that focus on gait correction, agility, balance,
and muscle strength. These regimens should be started
early in life to prevent developmental deficiencies and
should be maintained to avoid musculoskeletal injuries
later in life. JAAPA
40 www.JAAPA.com
Copyright © 2017 American Academy of Physician Assistants
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Volume 30 • Number 12 • December 2017