Update

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Aging and Down Syndrome:
Implications for Physical Therapy
Robert C Barnhart, Barbara Connolly
RC Barnhart, PT, ScDPT, PCS, is
Assistant Professor and Academic
The number of people over the age of 60 years with lifelong developmental delays is
Coordinator of Clinical Education,
predicted to double by 2030. Down syndrome (DS) is the most frequent chromo- Department of Physical Therapy,
somal cause of developmental delays. As the life expectancy of people with DS East Tennessee State University,
increases, changes in body function and structure secondary to aging have the Box 70624, Johnson City, TN
potential to lead to activity limitations and participation restrictions for this popula- 37614. Address all correspon-
dence to Dr Barnhart at:
tion. The purpose of this update is to: (1) provide an overview of the common body
barnhart@etsu.edu.
function and structure changes that occur in adults with DS as they age (thyroid
dysfunction, cardiovascular disorders, obesity, musculoskeletal disorders, Alzheimer B Connolly, PT, EdD, FAPTA, is
UTNAA Distinguished Service Pro-
disease, depression) and (2) apply current research on exercise to the prevention of
fessor and Chairperson, Graduate
activity limitations and participation restrictions. As individuals with DS age, a shift in Program in Physical Therapy, Uni-
emphasis from disability prevention to the prevention of conditions that lead to versity of Tennessee Health Sci-
activity and participation limitations must occur. Exercise programs appear to have ence Center, Memphis, Tenn.
potential to positively affect the overall health of adults with DS, thereby increasing [Barnhart RC, Connolly B. Aging
the quality of life and years of healthy life for these individuals. and Down syndrome: implications
for physical therapy. Phys Ther.
2007;87:1399 –1406.]

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October 2007 Volume 87 Number 10 Physical Therapy f 1399

Aging and Down Syndrome

A
pproximately 200,000 to
500,000 individuals over the
age of 60 have lifelong devel-
opmental delays (DD), representing
approximately 12% of people of all
ages with DD.1,2 This number is pre-
strictions. The conceptual model
guiding the discussion in this update
will be the World Health Organiza-
tion’s International Classification
of Function, Disability and Health
(ICF).12
Changes in Body Structure
and Function Associated
With Aging in Individuals
With DS
One of the goals of Healthy People
2010 is to increase quality of life and

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dicted to double by 2030.3 The ma-
jority of these individuals live with
family members.4 This living situa-
tion is a growing concern for social
service agencies serving this popula-
tion because many individuals with
DD are now outliving their parents
and family members.
Down syndrome (DS) is the most fre-
quent chromosomal cause of DD, oc-
curring in 1 out of every 700 to 1,000
live births.5–7 More than 350,000
people in the United States have
been diagnosed with DS.8 The non-
disjunctive type of trisomy 21 is
present in 93% to 95% of individuals
with DS.5,9 Less common causes of
DS are translocation, when part of
chromosome 21 breaks off and at-
taches to another chromosome, and
mosaicism, where the nondisjunc-
tion of chromosome 21 occurs be-
fore cell fertilization.5 Translocations
are responsible for approximately
3% to 4% of cases of DS, whereas
mosaicism occurs in about 1% to 3%
of cases.9
Like that for other individuals with
DD, the life expectancy for individ-
uals with DS has been increasing
from an average of 9 years of age in
1929,9 to 12 years of age in 1949,9 to
35 years of age in 1982,9 to 55 years
of age or older currently.5,6,10,11
Therefore, changes in body function
and structure secondary to aging
have the potential to lead to activity
limitations and participation restric-
tions for individuals with DS. The
purpose of this update is to: (1) pro-
vide an overview of the common
body function and structure changes
that occur in adults with DS as they
age and (2) apply current research
on exercise to the prevention of ac-
tivity limitations and participation re-
the years of healthy life of all citizens
The ICF provides a common lan-
of the United States.14 As individuals
guage and framework for the de-
with DS age, they are more suscep-
scription of health and health-related
tible to age-related physical and neu-
states, outcomes, and determi-
rological or psychiatric conditions
nants.12,13 The ICF emphasizes
than the general population.15
health and functioning, rather than
disability, and is a tool for measuring
Physical Conditions
functioning in society regardless of
The physical conditions seen in
the reason for an individual’s impair-
people with DS include thyroid dys-
ments.12 Thus, the ICF focuses on a
function, cardiovascular disorders,
person’s level of health rather than
obesity, and musculoskeletal disor-
on disability. The emphasis on an
ders.5,16 These physical problems
individual’s level of health is impor-
can have a negative effect on the
tant because diagnosis alone does
quality of life not only for people
not predict service needs, level of
with DS but their families as
care, or functional outcomes.12
well.9,17,18
The ICF model identifies 3 levels of
Thyroid dysfunction. Adults with
human functioning.12 Human func-
DS are at risk for developing both
tioning occurs at the level of body or
hyperthyroid and hypothyroid con-
body part (body function and struc-
ditions as they age, with hypothy-
ture), the execution of a task by a
roidism being more common.5–7,19
person (activities), and the whole
Studies have shown that 20%
person in a social context (participa-
(age⫽6 –14 years)17 to 28.1% (age⫽5
tion). Figure 1 illustrates the ICF
days–10 years)18 of children with DS
model.
have thyroid dysfunction on initial
thyroid function testing, with the
In the ICF model, disability and func-
majority of these children demon-
tioning are seen as the outcome of
strating hypothyroidism.20 By adult-
the interaction between health con-
hood, approximately 40% of all
ditions (diseases, disorders, and inju-
people with DS will develop hypo-
ries) and contextual factors.12 Con-
thyroidism.5,6 Untreated hypothy-
textual factors include both
roidism often can lead to symptoms
environmental and personal factors.
that mimic a decline in cognitive
Environmental factors are external
skills; therefore, individuals may be
and include social attitudes, culture,
misdiagnosed as having Alzheimer
geography, and architectural distinc-
disease (AD).5,6 Other frequently ob-
tiveness. Personal factors are internal
served symptoms of hypothyroidism
and include sex, age, personality
in individuals with DS include de-
characteristics, social background,
creased energy, decreased motiva-
education, life experiences, voca-
tion, weight gain, constipation, bra-
tional and avocational activities, and
dycardia, and dry skin.5
any other factors that might influ-
ence how a person experiences
Cardiovascular disorders. Mitral
disability.
value prolapse is reported to occur
in 46% to 57% of adults with DS.6,7

1400 f Physical Therapy Volume 87 Number 10 October 2007


Mitral value prolapse can lead to an
increased risk of endocarditis, cere-
brovascular accident, more severe
mitral value prolapse, and heart fail-
ure.5 Mitral value prolapse can occur
in adults with DS who have no pre-
vious history of cardiac pathology.
Therefore, some experts7,21 contend
that a second cardiac assessment
should be given to all adolescents
and young adults with DS, regardless
of whether cardiac symptoms are
present, especially before dental or
surgical procedures. Early signs of
mitral value prolapse include fatigue,
irritability, weight gain, dyspnea
with physical activity, bilateral crack-
les that do not clear with a cough,
and a third heart sound.5 As with
hypothyroidism, some symptoms of
mitral value prolapse could be con-
fused with symptoms frequently
seen in people with AD.
Adults with DS may also have a lower
cardiovascular capacity than their
peers who are mentally challenged
but do not have DS. Pitetti et al22
studied the cardiovascular response
to exercise testing in adults with DS
and adults with mental retardation
without DS. They discovered that in-
dividuals with DS had significantly
lower (P⬍.01) mean peak oxygen
consumption, minute ventilation,
and heart rate during exercise test-
ing. Similar results regarding maxi-
mum oxygen consumption in adults
with DS also were reported by Pitetti
and Boneh.23
The lower cardiovascular capacity in
adults with DS may be secondary to
a lower lean body muscle mass,
lower muscle strength (force-
generating capacity), thyroid disor-
ders, hypotonic muscle tone
(velocity-dependent resistance to
stretch), higher incidences of obe-
sity, or an impaired sympathetic re-
sponse to exercise.22,24 For example,
Eberhard et al25 found impaired sym-
pathetic responses (lower peak heart
rate and blood lactate concentra-
October 2007
Figure 1.
The International Classification of Functioning, Disability and Health (ICF). Reprinted
from Towards a Common Language for Functioning, Disability, and Health: ICF. Geneva,
Switzerland: World Health Organization; 2002, with permission of the World Health
Organization, all rights reserved by the World Health Organization.
tions) to maximal exercise in young
adults (15–20 years of age) with DS.
The lower cardiovascular capacities
reported in adults with DS may lead
to participation restrictions specifi-
cally related to job performance. Job
performance frequently is related to
physical fitness levels, and a lower
cardiovascular capacity may place
these adults at a disadvantage in
performing job-related physical
activities.22
Obesity. Men with more than 25%
body fat and women with more than
35% body fat are considered obese.26
Adults with DS also have reported
high rates of obesity.23,26,27 Some au-
thors28,29 have suggested that adults
with DS tend to lead a sedentary life-
style, which results in increased
rates of obesity. In a study of physical
inactivity among adults with mental
retardation, Draheim et al30 reported
that less than 46% of the men and
women participated in the recom-
mended amount of physical activity
and no adults over 30 years of age
reported participation in vigorous
physical activity.
However, Fujiura et al19 reported
that there were not strong links
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Aging and Down Syndrome
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among body mass index (BMI), diet,
and exercise in adults with DS. They
discovered a significant link (P⫽
.033) between friendships or access
to recreation and BMI.19 They con-
cluded that community interactions
have a major effect on health. Their
findings are consistent with the the-
oretical model underlying the ICF
that environmental factors can influ-
ence participation levels.
Andriolo et al31 and Luke et al32 the-
orized that a lower resting metabolic
rate was a cause of increased rates of
obesity in individuals with DS. Be-
cause both of those studies involved
children with DS, Fernhall et al33
tested this hypothesis by measuring
the resting metabolic rate in 22
adults with DS (17–39 years of age)
and compared these results with
those of 20 age-matched control sub-
jects who were not disabled. When
the presence of thyroid disease was
controlled, the resting metabolic rate
in adults with DS was similar to that
in the general population. They con-
cluded that a lower resting meta-
bolic rate found in children with DS
may predispose them to obesity as
adults.
Number 10 Physical Therapy f 1401
Aging and Down Syndrome
Musculoskeletal disorders. Be-
cause of premature aging, adults
with DS might experience musculo-
skeletal disorders usually associated
with elderly individuals earlier than
the general population.5 Juvenile ar-
thritis–like arthropathy develops in
approximately 1% to 2% of adoles-
cents with DS.7 Mid-cervical arthritis
also has been reported to occur at a
higher rate in adults with DS than in
the general population.5,6 Possibly as
a result of low muscle tone, adults
with DS are at increased risk for hip
dysplasia with dislocation and foot
pronation.5 Hresko et al34 found pro-
gressive hip instability after skeletal
maturity in individuals with DS,
which led to a decrease in ambula-
tion skills. Foot pronation may lead
to an increased incidence of pedal
arthritis in adults with DS.7
Individuals with DS also appear to be
at higher risk for developing osteo-
porosis than the general population.
In a study of individuals with mental
retardation who were living in the
community, Center et al35 found a
significantly lower bone mineral den-
sity (BMD) (P⫽.0008 for women and
P⫽.0006 for men) in these individu-
als compared with the general pop-
ulation. Down syndrome was discov-
ered to be an independent risk factor
for osteoporosis. The relatively
young age (mean⫽35 years) of the
individuals in the study is of particu-
lar concern.
Other researchers36 also have found
that individuals with DS appear to be
at risk for developing osteoporosis as
they age. Subsequently, long-bone
fractures and compression factures
of the vertebral bodies are common
in this population.18 The increased
incidence of osteoporosis among
adults with DS may be secondary to
several factors, including their short
stature, low muscle tone, decreased
physical activity, early menopause,
and decreased muscle strength.37 In
addition, the increased incidence of
1402 f Physical Therapy Volume 87
thyroid disease observed in adults
with DS compared with adults in the
general population and adults with
other forms of mental retardation
also may contribute to the increased
prevalence of osteoporosis in people
with DS.5,17,38
Other frequent conditions. Sev-
eral other conditions have been as-
sociated with the aging process in
DS. Children and young adults with
DS have a high prevalence of middle
ear infections and conductive hear-
ing loss.39,40 The prevalence of hear-
ing impairment increases with age.40
Conductive hearing loss has been re-
ported to be occurring at rates as
high as 70% in adults with DS com-
pared with 8% in adults who are
mentally challenged but do not have
DS.5,41 Therefore, examinations of
hearing should occur every 2 years
once adulthood is reached.5
Adults with DS also may be at risk for
the development of vision problems.
The prevalence of visual impairment
in adults with DS who are 65 to 74
years of age is 70% compared with
6.5% of adults of the same age who
are not mentally challenged and
compared with 17.4% of adults of
the same age who are mentally chal-
lenged who do not have DS.42 Vision
problems include cataracts, blepha-
ritis, keratoconus, and excessive
myopia, all of which appear to in-
crease in frequency with increasing
age.5–7,41,43 The loss of either hearing
or vision can have a detrimental ef-
fect on adaptive behavior in adults
with DS.44
Skin disorders such as atopic derma-
titis, fungal infections of skin and
nails, and xerosis are common in
adults with DS.7 Finally, sleep apnea
is reported to occur in approxi-
mately 50% of adults with DS.5 Sleep
apnea in adults with DS may lead to
depression, paranoia, irritability, or
other behavioral changes.6
Number 10
Neurological or
Psychiatric Conditions
The most commonly described neu-
rological or psychiatric condition as-
sociated with aging in individuals
with DS is AD. Depression also may
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be seen. Early identification and
treatment of AD and depression
could reverse the functional decline
frequently associated with these
disorders.45
Alzheimer disease. Alzheimer
disease continues to be an ongoing
area of research in adults with DS.46
Almost all adults with DS over 40
years of age display neuropathology
consistent with AD.47 Prevalence
rates for AD among adults with DS
increase with age, with rates of 10%
at 30 to 39 years of age, up to 55% at
50 to 59 years of age, and almost 75%
at 60 to 65 years of age.6,47 In addi-
tion, women with DS who experi-
ence menopause before 46 years of
age have an increased risk for and an
earlier onset of AD.37
The increased prevalence of AD is
theorized to be caused by an over-
expression of the gene for amyloid
precursor protein due to a triplica-
tion of chromosome 21 found in
most cases of DS.24 This over-
expression leads to an increased ac-
cumulation of ␤-amyloid, the princi-
pal component of senile plaques in
the brain.24 Symptoms of AD fre-
quently observed in adults with DS
include memory loss, weight loss,
decreased skills in activities of daily
living leading to increased depen-
dency, personality changes, apathy,
late-onset epilepsy, and loss of con-
versation skills (Fig. 2).7,16,46,48 –51 In
addition, increased rates of depres-
sion and mobility problems appear
to develop as AD progresses.49,51
Eighty-four percent of adults with DS
who have end-stage AD also develop
late-onset epilepsy.51
Depression. Mental illness occurs
in approximately 30% of all adults
October 2007

with DS.5 Depression is the most fre-
quent mental health issue in adults
with DS and is a common cause of
decreased function among these
adults. Other common symptoms of
depression in DS include sleep and
behavior disturbances, apathy, and
weight change.5 One difficulty in di-
agnosing depression in this popula-
tion is differentiating between de-
pression and the symptoms of AD or
thyroid disease.7,48
Exercise and
Down Syndrome
This section reviews the literature
examining the effect of exercise on
osteoporosis, cardiovascular func-
tion, and muscle strength in adults
with DS. Only studies specifically tar-
geting adults (subjects over 18 years
of age) with DS are summarized.
Osteoporosis
As stated previously, individuals with
DS have been shown to have de-
creased BMD compared with other
people with mental retardation and
individuals without DD.52 Physical
activity has been shown to be related
to increased BMD in individuals
without DD.53 Could increased phys-
ical activity also increase BMD
among individuals with DS? Angelo-
poulou et al52 found a significant re-
lationship (r⫽.877, P⬍.01) between
quadriceps femoris muscle strength
and BMD among men with DS. They
concluded that encouraging an ac-
tive lifestyle and exercise for indi-
viduals with DS would help pre-
vent osteoporosis. In their review
of literature on the effect of exercise
on BMD, however, Turner and
Robling54 concluded that exercise
has only a minor effect on increasing
BMD after skeletal maturity but that
exercise can reduce fracture risk by
decreasing the number of falls an el-
derly person may experience by
improving balance and postural
stability.
October 2007
Weight loss48
Memory loss46
Increased dependency in activities of daily living46
Personality changes, including depression 7,16,46
Decrease in conversation skills7,16
Loss of mobility skills49,51
Development of seizures 50
Figure 2.
Frequently observed symptoms of Alzheimer disease in adults with Down syndrome.
In conclusion, exercise to improve
BMD in adults with DS may have
limited benefits because of their
long-standing low BMD as well as
additional comorbidities.55 Exercise
during skeletal growth has been
demonstrated to influence BMD dur-
ing the adult years.54 Physical thera-
pists, therefore, should emphasize
dynamic (active) weight bearing
when working with children with
DS who are either ambulatory or
nonambulatory. Partial body-weight–
supported treadmill training may
provide a means for dynamic weight
bearing to improve BMD for both
children who are nonambulatory
and adults with DS. Additional re-
search is needed to determine which
therapies are best for improving and
maintaining BMD in adults with DS.
Cardiovascular Fitness
Compared with their peers who are
not mentally retarded, individuals
with DS, regardless of their age, have
lower cardiovascular fitness lev-
els.28,56,57 This lower level of cardio-
vascular fitness may be the result of
poor eating habits, sedentary life-
style, lack of opportunity for recre-
ational activities, poor coordination,
and poor motivation for physical ac-
tivity.28,56 In addition, the lack of car-
diovascular fitness may be secondary
to or caused by the elevated obesity
rates observed among adults with
mental retardation.30 Poor cardio-
vascular fitness levels also may con-
tribute to the increased risk for heart
disease and stroke in adults with
mental retardation.58 In addition,
cardiovascular fitness levels decrease
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Aging and Down Syndrome
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with an increase in the level of dis-
ability.56 Therefore, involvement in
cardiovascular conditioning pro-
grams would appear to be important
for individuals with mental retarda-
tion. However, can the cardiovascu-
lar fitness levels of individuals with
mental retardation, specifically those
with DS, be improved with exercise?
Varela et al59 investigated the effects
of an aerobic rowing program on the
cardiovascular fitness of young
adults with DS. Sixteen men (mean
age⫽21.4 years) with DS were as-
signed to either an exercise group or
a no-exercise (control) group. All
participants were tested on treadmill
and rowing machines before and af-
ter the exercise program. The exer-
cise group was involved in a rowing
program using rowing machines for
25 minutes per session, 3 sessions
per week, for 16 weeks. The authors
found no significant difference be-
tween the exercise and control
groups in peak oxygen uptake, max-
imal heart rate, and minute ventila-
tion following the 16-week rowing
program. However, they found that
the exercise group was able to row
and walk for longer distances
(P⬍.05) following involvement in
the rowing program, demonstrating
improvements in exercise capacity
without improvements in cardio-
vascular fitness.
Tsimaras et al28 investigated the car-
diovascular response in young adults
(mean age⫽24.5 years) with DS fol-
lowing a 12-week jog-walk aerobic
program. Unlike Varela et al,59 how-
Number 10 Physical Therapy f 1403
Aging and Down Syndrome
ever, Tsimaras et al monitored the
participants’ exercise heart rate
closely and gave reinforcements (ed-
ible, verbal, and visual) to the partic-
ipants during the exercise program.
The authors believed that these
changes in the exercise protocol ex-
plained why their results were differ-
ent from the results reported by
Varela et al.
Unlike the study by Varela et al,59
participants in the exercise program
in the study by Tsimaras et al28 dem-
onstrated significant improvement
(P⬍.05) in all physiological parame-
ters compared with the control
group, which did not exercise. As in
the study by Varela et al, lower base-
line maximal heart rate and baseline
peak oxygen uptake were found in
individuals with DS compared with
individuals without DS. Baynard et
al27 hypothesized that the lower
maximal heart rate may be due to a
reduced sympathetic drive and circu-
lating catecholamines. The lower
peak oxygen uptake may be due to
increased body fat in individuals
with DS.28
In summary, young adults with DS
between the ages of 21 and 24 years
may show improvements in cardio-
vascular fitness following a well-
designed and closely supervised
aerobic exercise program. The im-
provements shown in peak oxygen
uptake following aerobic exercise
are particularly important because
individuals with DS have a lower
baseline peak oxygen uptake com-
pared with individuals without DS.
Without intervention, the peak oxy-
gen uptake can be expected to de-
crease as people with DS age, which
could result in their inability to per-
form activities of daily living and per-
form light work duties, leading to
activity and participation restric-
tions.28,60 Unfortunately, no studies
have investigated the effects of an
aerobic exercise program on individ-
1404 f Physical Therapy Volume 87
uals with DS who are over 30 years
of age.
Strength Training
Rimmer et al29 investigated the ef-
fects of a strength training program
on adults (mean age⫽38.6 years)
with DS. In this study, 30 adults with
DS participated in 15 to 20 minutes
of strength training, 3 days per week,
for 12 weeks. Muscle strength was
measured before and after training
and compared with that in 22 indi-
viduals with DS who did not par-
ticipate in any strength training dur-
ing the same time period. The
authors found that the individuals
who participated in the strength
training program demonstrated sig-
nificant (P⬍.0001) gains in muscular
strength compared with the individ-
uals in the control group. The indi-
viduals in the exercise group also
demonstrated a significant (P⬍.01)
decrease in body weight following
the exercise program.
Tsimaras and Fotiadou61 studied the
effects of training on quadriceps
femoris and hamstring muscle
strength and dynamic balance (bal-
ance associated with walking62) in
25 men (mean age⫽24.5 years) with
DS. Fifteen men were assigned to an
exercise group, and 10 men were
assigned to a control group. All sub-
jects took part in testing of peak
torque, isokinetic muscle endur-
ance, and dynamic balance before
and after the exercise program. Dy-
namic balance was measured
through the use of a balance deck
and determined by a stabilometer in
30-, 45-, and 60-second intervals.
The experimental group was in-
volved in a 12-week exercise pro-
gram at a frequency of 3 sessions per
week for 30 to 35 minutes per ses-
sion. Each session consisted of a 10-
minute warm-up period followed by
a 15- to 20-minute training period
consisting of dynamic balance activ-
ities and plyometric exercises with
Number 10
and without resistance and ended
with a 5-minute recovery period.
The experimental group demon-
strated significant (P⬍.01) improve-
ments in isokinetic peak torque and
isokinetic endurance of the lower
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extremities following the training
program. The control group showed
no improvement in peak torque or
endurance. The experimental group
also showed a significant improve-
ment (30 seconds: P⬍.01; 45 sec-
onds: P⬍.001; 60 seconds: P⬍.01) in
dynamic balance.61
The results from both of these stud-
ies29,61 are important because many
individuals with DS will need to
maintain or improve their muscular
strength in order to keep working as
they grow older. Furthermore, be-
cause individuals with DS are at risk
for obesity, strength training may
provide a means for weight control.
Summary
Exercise programs appear to have
the potential to positively affect the
overall health of adults with DS,
thereby increasing the quality of life
and years of healthy life for these
individuals. However, there is a need
for more research investigating the
effects of exercise on adults with DS
over 40 years of age. In their meta-
analysis of aerobic exercise pro-
grams for adults with DS, Andriolo et
al31 identified only 2 studies of good
quality.
No studies were found investigating
the effects that exercise may have on
the symptoms of AD in the popula-
tion with DS. Because exercise has
been shown to modify brain func-
tion63 and may be related to im-
proved cognitive functioning among
adults without DS,64,65 exercise may
help decrease the severity of symp-
toms experienced by adults with DS
who also have AD. Additional re-
search investigating the effects of ex-
ercise on the symptoms of AD
October 2007

among individuals with DS is
needed.
Conclusion
Healthy People 2010 has set a goal of
increasing the quality of life and
years of healthy life for all the citi-
zens of the United States.14 Individu-
als with DS face many challenges as
they age, including a number of age-
related conditions that could lead to
activity and participation limitations.
Therefore, a shift in emphasis from
disability prevention to the preven-
tion of conditions that could poten-
tially lead to activity and participa-
tion limitations must occur.66
Physical therapists who frequently
serve children with DS and their fam-
ilies need to keep in mind that the
majority of these children will live
well into adulthood. Emphasizing
the importance of consistent exer-
cise, good diet, community involve-
ment, and regular health examina-
tions throughout their life may help
these children and their families to
increase the length and quality of
their life.
Dr Barnhart provided concept/idea/research
design. Both authors provided writing.
This article was submitted November 3, 2006,
and was accepted May 29, 2007.
DOI: 10.2522/ptj.20060334
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