Update

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 Clinicai Education,
predicted to double by 2030. Down syndrome (DS) is the most frequent chromo- Department of Pliysical 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@[Link].
function and structure changes that occur in adults with DS as they age (thyroid
dysfunction, cardiovascular disorders, obesity, musculoskeletal disorders, Alzheimer B Connoiiy, 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 Physicai Therapy, Uni-
emphasis from disability prevention to the prevention of conditions that lead to versity of Tennessee IHeaith 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;87:1 399-1406.]

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October 2007 Volume 87 Number 10 Physical Therapy • 1399

Aging and Down Syndrome

Changes in Body Structure

A
pproximately 200,000 to strictions. The conceptual model
500,000 individuals over the guiding the discussion in this update and Function Associated
age of 60 have lifelong devel- will be the World Health Organiza- With Aging in Individuals
opmental delays (DD), representing tion's International Classification
approximately 12% of people of all of Function, Disability and Health
With DS
One of the goals of Healthy People
ages with DD.^^ This number is pre-
2010 is to increase quality of life and
dicted to double by 2030.* The ma-
the years of healthy life of all citizens
jority of these individuals live with The ICF provides a common lan-
of the United States, i"* As individuals
family members.^ This living situa- guage and framework for the de-
with DS age, they are more suscep-
tion is a growing concem for social scription of health and health-related
tible to age-related physical and neu-
service agencies serving this popula- states, outcomes, and determi-
rological or psychiatric conditions
tion because many individuals with nants.12.13 The ICF emphasizes
than the general population. > 5
DD are now outliving their parents health and functioning, rather than
and family members. disability, and is a tool for measuring
functioning in society regardless of Physical Conditions
Down syndrome (DS) is the most fre- the reason for an individual's impair- The physical conditions seen in
quent chromosomal cause of DD, oc- ments.'^ Thus, the ICF focuses on a people with DS include thyroid dys-
curring in 1 out of every 700 to 1,000 person's level of health rather than function, cardiovascular disorders,
live births.5-7 More than 350,000 on disability. The emphasis on an obesity, and musculoskeletal disor-
people in the United States have individual's level of health is impor- ders.5.i<5 These physical problems
been diagnosed with DS.** The non- tant because diagnosis alone does can have a negative effect on the
disjunctive type of trisomy 21 is not predict service needs, level of quality of life not only for people
present in 93% to 95% of individuals care, or functional outcomes.'^ with DS but their families as
with DS.^'S Less common causes of
DS are translocation, when part of The ICF model identifies 3 levels of
chromosome 21 breaks off and at- human functioning.'^ Human func- Thyroid dysfunction. Adults with
taches to another chromosome, and DS are at risk for developing both
tioning occurs at the level of body or
mosaicism, where the nondisjunc- body part (body function and struc-hyperthyroid and hypothyroid con-
tion of chromosome 21 occurs be- ture), the execution of a task by aditions as they age, with hypothy-
fore cell fertilization. 5 Translocations person (activities), and the w^holeroidism being more common.^-^.is"
are responsible for approximately Studies have shown that 20%
person in a social context (participa-
3% to 4% of cases of DS, whereas tion). Figure 1 illustrates the ICF(age=6-l4 years)i^ to 28.1% (age=5
mosaicism occurs in about 1% to 3% model. days-10 years)!^ of children with DS
of cases.^ have thyroid dysfunction on initial
thyroid function testing, with the
In the ICF model, disability and func-
majority of these children demon-
Like that for other individuals with tioning are seen as the outcome of
strating hypothyroidism.^" By adult-
DD, the life expectancy for individ- the interaction between health con-
hood, approximately 40% of aU
uals with ps has been increasing ditions (diseases, disorders, and inju-
people with DS will develop hypo-
from an average of 9 years of age in ries) and contextual factors.'^ Con-
thyroidism.5'5 Untreated hypothy-
1929,3 to 12 years of age in 1949,^ to textual factors include both
roidism offen can lead to symptoms
35 years of age in 1982,^ to 55 years environmental and personal factors.
that mimic a decline in cognitive
of age or older currently.'.^.[Link] Environmental factors are external
skills; therefore, individuals may be
Therefore, changes in body function and include social attitudes, culture,
misdiagnosed as having Alzheimer
and structure secondary to aging geography, and architectural distinc-
disease (AD).^'^ Other frequently ob-
have the potential to lead to activity tiveness. Personal factors are internal
served symptoms of hypothyroidism
limitations and participation restric- and include sex, age, personality
in individuals with DS include de-
tions for individuals with DS. The characteristics, social background,
creased energy, decreased motiva-
purpose of this update is to; (1) pro- education, life experiences, voca-
tion, weight gain, constipation, bra-
vide an overview of the common tional and avocational activities, and
dycardia, and dry skin.^
body function and structure changes any other factors that might influ-
that occur in adults with DS as they ence how a person experiences
age and (2) apply current research disability. Cardiovascular disorders. Mitral
on exercise to the prevention of ac- value prolapse is reported to occur
tivity limitations and participation re- in 46% to 57% of adults with DS.6.7

1400 • Physical Therapy Volume 87 Number 10 October 2007

 Aging and Down Syndrome

Mitral value prolapse can lead to an Health Condition

increased risk of endocarditis, cere-
brovascular accident, more severe (disorder/disease)
mitral value prolapse, and heart fail-
ure.' Mitral value prolapse can occur
in adults with DS who have no pre-
1
vious history of cardiac pathology. Body ^ Activities Participation
Therefore, some experts^'^' contend function & structure (Limitation) (Restriction)
that a second cardiac assessment (Impairment)
should be given to all adolescents
and young adults with DS, regardless
of whether cardiac symptoms are
present, especially before dental or
t
1
± 1
Environmental Personal
surgical procedures. Early signs of
mitral value prolapse include fatigue, Factors Factors
irritability, weight gain, dyspnea Figure 1.
with physical activity, bilateral crack- The International Classification of Functioning, Disability and Health (ICF). Reprinted
les that do not clear with a cough, from Towards a Common Language for Functioning, Disability, and Heaith: iCF. Geneva,
and a third heart sound.^ As with Switzerland: World Health Organization; 2002, with permission of the World Health
hypothyroidism, some symptoms of Organization, all rights reserved by the World Health Organization.
mitral value prolapse could be con-
fused with symptoms frequently tions) to maximal exercise in young among body mass index (BMI), diet,
seen in people with AD. adults (15-20 years of age) w^ith DS. and exercise in adults with DS. They
The lower cardiovascular capacities discovered a significant link (P=
Adults with DS may also have a lower reported in adults with DS may lead .033) between friendships or access
cardiovascular capacity than their to participation restrictions specifi- to recreation and BMLi^" They con-
peers who are mentally challenged cally related to job performance. Job cluded that community interactions
but do not have DS. Pitetti et aP^ performance frequently is related to have a major effect on health. Their
studied the cardiovascular response physical fitness levels, and a lower findings are consistent •with the the-
to exercise testing in adults with DS cardiovascular capacity may place oretical model underlying the ICF
and adults with mental retardation these adults at a disadvantage in that environmental factors can influ-
without DS. They discovered that in- performing job-related physical ence participation levels.
dividuals with DS had significantly activities. 22
lower CP<.01) mean peak oxygen Andriolo et aPi and Luke et aP^ the-
consumption, minute ventilation, Obesity. Men with more than 25% orized that a lower resting metabolic
and heart rate during exercise test- body fat and women with more than rate was a cause of increased rates of
ing. Similar results regarding maxi- 35% body fat are considered obese.^^ obesity in individuals w^ith DS. Be-
mum oxygen consumption in adults Adults with DS also have reported cause both of those studies involved
with DS also were reported by Pitetti high rates of obesity.25'26,27 some au- children with DS, Fernhall et aP'
and thors^s.^s have suggested that adults tested this hypothesis by measuring
with DS tend to lead a sedentary life- the resting metabolic rate in 22
The lower cardiovascular capacity in style, which results in increased adults with DS (17-39 years of age)
adults with DS may be secondary to rates of obesity. In a study of physical and compared these results with
a lower lean body muscle mass, inactivity among adults with mental those of 20 age-matched control sub-
lower muscle strength (force- retardation, Draheim et aP° reported jects who were not disabled. When
generating capacity), thyroid disor- that less than 46% of the men and the presence of thyroid disease was
ders, hypotonic muscle tone women participated in the recom- controlled, the resting metabolic rate
(velocity-dependent resistance to mended amount of physical activity in adults with DS was similar to that
stretch), higher incidences of obe- and no adults over 30 years of age in the general population. They con-
sity, or an impaired sympathetic re- reported participation in vigorous cluded that a lower resting meta-
sponse to exercise.^^.Z'' For example, physical activity. bolic rate found in children with DS
Eberhard et aF' found impaired sym- may predispose them to obesity as
pathetic responses (lower peak heart However, Fujiura et aP^ reported adults.
rate and blood lactate concentra- that there were not strong links

October 2007 Volume 87 Number 10 PhysicalTherapy 1401

Aging and Down Syndrome

Muscuioskeietai disorders. Be- thyroid disease observed in adults Neurologicai or

cause of premature aging, adults with DS compared with adults in the Psychiatric Conditions
with DS might experience musculo- general population and adults with The most commonly described neu-
skeletal disorders usually associated other forms of mental retardation rological or psychiatric condition as-
with elderly individuals earlier than also may contribute to the increased sociated with aging in individuals
the general population.' Juvenile ar- prevalence of osteoporosis in people with DS is AD. Depression also may
thritis-like arthropathy develops in w i t h DS.5.17.38 be seen. Early identification and
approximately 1% to 2% of adoles- treatment of AD and depression
cents with DS.7 Mid-cervical arthritis Other frequent conditions. Sev- could reverse the functional decline
also has been reported to occur at a eral other conditions have been as- frequently associated with these
higher rate in adults with DS than in sociated with the aging process in disorders.^'
the general population.''^ Possibly as DS. Children and young adults with
a result of low muscle tone, adults DS have a high prevalence of middle Aizheimer disease. Alzheimer
with DS are at increased risk for hip ear infections and conductive hear- disease continues to be an ongoing
dysplasia with dislocation and foot ing loss.s^'^o The prevalence of hear- area of research in adults with DS.^^
pronation.5 Hresko et aP'* found pro- ing impairment increases with age.''" Almost all adults with DS over 40
gressive hip instability after skeletal Conductive hearing loss has been re- years of age display neuropathology
maturity in individuals with DS, ported to be occurring at rates as consistent with AD."*^ Prevalence
which led to a decrease in ambula- high as 70% in adults with DS com- rates for AD among adults with DS
tion skills. Foot pronation may lead pared with 8% in adults who are increase with age, with rates of 10%
to an increased incidence of pedal mentally challenged but do not have at 30 to 39 years of age, up to 55% at
arthritis in adults with DS.'^ DS.5.^1 Therefore, examinations of 50 to 59 years of age, and almost 75%
hearing should occur every 2 years at 60 to 65 years of age.^'*^ In addi-
Individuals with DS also appear to be once adulthood is reached.' tion, women with DS who experi-
at higher risk for developing osteo- ence menopause before 46 years of
porosis than the general population. Adults with DS also may be at risk for age have an increased risk for and an
In a study of individuals with mental the development of vision problems. earlier onset
retardation who were living in the The prevalence of visual impairment
community. Center et aP' found a in adults with DS who are 65 to 14 The increased prevalence of AD is
significantly lower bone mineral den- years of age is 70% compared with theorized to be caused by an over-
sity (BMD) (P= .0008 for women and 6.5% of adults of the same age who expression of the gene for amyloid
P= .0006 for men) in these individu- are not mentally challenged and precursor protein due to a triplica-
als compared with the general pop- compared with 17.4% of adialts of tion of chromosome 21 found in
ulation. Down syndrome was discov- the same age who are mentally chal- most cases of DS.^^ This over-
ered to be an independent risk factor lenged who do not have DS.^^ vision expression leads to an increased ac-
for osteoporosis. The relatively problems include cataracts, blepha- cumulation of j3-amyloid, the princi-
young age (mean=35 years) of the ritis, keratoconus, and excessive pal component of senile plaques in
individuals in the study is of particu- myopia, all of which appear to in- the brain.2^ Symptoms of AD fre-
lar concern. crease in frequency with increasing quently observed in adults with DS
age.5-7'*i'43 The loss of either hearing include memory loss, weight loss,
Other researchers'^ also have found or vision can have a detrimental ef- decreased skills in activities of daily
that individuals with DS appear to be fect on adaptive behavior in adults living leading to increased depen-
at risk for developing osteoporosis as with DS.^-* dency, personality changes, apathy,
they age. Subsequently, long-bone late-onset epilepsy, and loss of con-
fractures and compression factures Skin disorders such as atopic derma- versation skills (Fig. 2).^»'5'4'5.48-5i In
of the vertebral bodies are common titis, fungal infections of skin and addition, increased rates of depres-
in this population. 1^ The increased nails, and xerosis are common in sion and mobility problems appear
incidence of osteoporosis among adults with DS.^ Finally, sleep apnea to develop as AD progresses.^^.si
adults with DS may be secondary to is reported to occur in approxi- Eighty-four percent of adults with DS
several factors, including their short mately 50% of adults with DS.' Sleep w^ho have end-stage AD also develop
stature, low muscle tone, decreased apnea in adults with DS may lead to late-onset epilepsy.'^
physical activity, early menopause, depression, paranoia, irritability, or
and decreased muscle strength.'^ in other behavioral changes.^ Depression. Mental illness occurs
addition, the increased incidence of in approximately 30% of all adults

1402 • Physical Therapy Volume 87 Number 10 October 2007

 Aging and Down Syndrome

with DS.5 Depression is the most fre- Weight

quent mental health issue in adults Memory
with DS and is a common cause of Increased dependency in activities of daily living''*
decreased function among these Personality changes, including depression'''^*'''*
adults. Other common symptoms of Decrease in conversation skills''^*
depression in DS include sleep and Loss of mobility skills"''^^
behavior disturbances, apathy, and Development of seizures^"
weight change.' One difficulty in di- Figure 2.
agnosing depression in this popula- Frequently observed symptoms of Alzheimer disease in adults with Down syndrome.
tion is differentiating between de-
pression and the symptoms of AD or
thyroid disease.^ "^^ In conclusion, exercise to improve with an increase in the level of dis-
BMD in adults with DS may have ability.'^ Therefore, involvement in
Exercise and limited benefits because of their cardiovascular conditioning pro-
Down Syndrome long-standing low BMD as w^ell as grams would appear to be important
This section reviews the literature additional comorbidities." Exercise for individuals with mental retarda-
examining the effect of exercise on during skeletal growth has been tion. However, can the cardiovascu-
osteoporosis, cardiovascular func- demonstrated to infiuence BMD dur- lar fitness levels of individuals with
tion, and muscle strength in adults ing the adult years.'"* Physical thera- mental retardation, specifically those
with DS. Only studies specifically tar- pists, therefore, should emphasize with DS, be improved with exercise?
geting adults (subjects over 18 years dynamic (active) weight bearing
of age) with DS are summarized. when working with children with Varela et al'^ investigated the effects
DS who are either ambulatory or of an aerobic rowing program on the
Osteoporosis nonambulatory. Partial body-weight- cardiovascular fitness of young
As stated previously, individuals with supported treadmill training may adults with DS. Sixteen men (mean
DS have been shown to have de- provide a means for dynamic weight age=21.4 years) with DS were as-
creased BMD compared with other bearing to improve BMD for both signed to either an exercise group or
people with mental retardation and children who are nonambulatory a no-exercise (control) group. All
individuals without DD.'^ Physical and adults with DS. Additional re- participants were tested on treadmill
activity has been shown to be related search is needed to determine which and rowing machines before and af-
to increased BMD in individuals therapies are best for improving and ter the exercise program. The exer-
without DD." Could increased phys- maintaining BMD in adults with DS. cise group was involved in a rowing
ical activity also increase BMD program using rowing machines for
among individuals with DS? Angelo- Cardiovascuiar Fitness 25 minutes per session, 3 sessions
poulou et al'2 found a significant re- Compared with their peers who are per week, for 16 weeks. The authors
lationship (r=.877, P<.01) between not mentally retarded, individuals found no significant difference be-
quadriceps femoris muscle strength with DS, regardless of their age, have tween the exercise and control
and BMD among men with DS. They lower cardiovascular fitness lev- groups in peak oxygen uptake, max-
concluded that encouraging an ac- eis.28,56,57 Xhis lower level of cardio- imal heart rate, and minute ventila-
tive lifestyle and exercise for indi- vascular fitness may be the result of tion following the 16-w^eek rowing
viduals with DS would help pre- poor eating habits, sedentary life- program. However, they found that
vent osteoporosis. In their review style, lack of opportunity for recre- the exercise group was able to row
of literature on the effect of exercise ational activities, poor coordination, and walk for longer distances
on BMD, however, Tumer and and poor motivation for physical ac- (P<.05) following involvement in
Robling''* concluded that exercise tivity.^**"^ In addition, the lack of car- the rowing program, demonstrating
has only a minor effect on increasing diovascular fitness may be secondary improvements in exercise capacity
BMD after skeletal maturity but that to or caused by the elevated obesity without improvements in cardio-
exercise can reduce fracture risk by rates observed among adults with vascular fitness.
decreasing the number of falls an el- mental retardation.'" Poor cardio-
derly person may experience by vascular fitness levels also may con- Tsimaras et al^s investigated the car-
improving balance and postural tribute to the increased risk for heart diovascular response in young adults
stability. disease and stroke in adults with (mean age=24.5 years) with DS fol-
mental retardation.'" In addition, lowing a 12-week jog-walk aerobic
cardiovascular fitness levels decrease program. Unlike Varela et al,'^ how-

October 2007 Volume 87 Number 10 Physical Therapy 1403

Aging and Down Syndrome

ever, Tsimaras et al monitored the uals with DS who are over 30 years and without resistance and ended
participants' exercise heart rate of age. with a 5-minute recovery period.
closely and gave reinforcements (ed- The experimental group demon-
ible, verbal, and visual) to the partic- Strength Training strated significant (P<.01) improve-
ipants during the exercise program. Rimmer et aF^ investigated the ef- ments in isokinetic peak torque and
The authors believed that these fects of a strength training program isokinetic endurance of the lower
changes in the exercise protocol ex- on adults (mean age=38.6 years) extremities following the training
plained why their results were differ- with DS. In this study, 30 adults with program. The control group showed
ent from the results reported by DS participated in 15 to 20 minutes no improvement in peak torque or
Varela et al. of strength training, 3 days per week, endurance. The experimental group
for 12 weeks. Muscle strength was also showed a significant improve-
Unlike the study by Varela et al,'^ measured before and after training ment (30 seconds: P<.Ol; 45 sec-
participants in the exercise program and compared with that in 22 indi- onds: P<.OOl; 60 seconds: P<.Ol) in
in the study by Tsimaras et al^^ dem- viduals with DS who did not par- dynamic balance.^'
onstrated significant improvement ticipate in any strength training dur-
(P<.05) in all physiological parame- ing the same time period. The The results from both of these stud-
ters compared with the control authors found that the individuals ies29,6i are important because many
group, which did not exercise. As in who participated in the strength individuals with DS will need to
the study by Varela et al, lower base- training program demonstrated sig- maintain or improve their muscular
line maximal heart rate and baseline nificant (/'<.OOO1) gains in muscular strength in order to keep working as
peak oxygen uptake were found in strength compared with the individ- they grow older. Furthermore, be-
individuals with DS compared with uals in the control group. The indi- cause individuals with DS are at risk
individuals without DS. Baynard et viduals in the exercise group also for obesity, strength training may
al^^ hypothesized that the lower demonstrated a significant (/•<.O1) provide a means for weight control.
maximal heart rate may be due to a decrease in body weight following
reduced sympathetic drive and circu- the exercise program. Summary
lating catecholamines. The lower Exercise programs appear to have
peak oxygen uptake may be due to Tsimaras and Fotiadou^' studied the the potential to positively affect the
increased body fat in individuals effects of training on quadriceps overall health of adults with DS,
with DS.28 femoris and hamstring muscle thereby increasing the quality of life
strength and dynamic balance (bal- and years of healthy life for these
In summary, young adults with DS ance associated with walking^^) jj, individuals. However, there is a need
between the ages of 21 and 24 years 25 men (mean age=24.5 years) with for more research investigating the
may show improvements in cardio- DS. Fifteen men were assigned to an effects of exercise on adults with DS
vascular fitness following a well- exercise group, and 10 men were over 40 years of age. In their meta-
designed and closely supervised assigned to a control group. All sub- analysis of aerobic exercise pro-
aerobic exercise program. The im- jects took part in testing of peak grams for adults with DS, Andriolo et
provements shown in peak oxygen torque, isokinetic muscle endur- al*' identified only 2 studies of good
uptake following aerobic exercise ance, and dynamic balance before quality.
are particularly important because and after the exercise program. Dy-
individuals with DS have a lower namic balance was measured No studies were found investigating
baseline peak oxygen uptake com- through the use of a balance deck the effects that exercise may have on
pared with individuals without DS. and determined by a stabilometer in the symptoms of AD in the popula-
Without intervention, the peak oxy- 30-, 45-, and 60-second intervals. tion with DS. Because exercise has
gen uptake can be expected to de- been shown to modify brain func-
crease as people with DS age, which The experimental group was in- tion^' and may be related to im-
could result in their inability to per- volved in a 12-week exercise pro- proved cognitive functioning among
form activities of daily living and per- gram at a frequency of 3 sessions per adults without DS,^'*'^^ exercise may
form light work duties, leading to week for 30 to 35 minutes per ses- help decrease the severity of symp-
activity and participation restric- sion. Each session consisted of a 10- toms experienced by adults ^with DS
tions.28<5o Unfortunately, no studies minute warm-up period followed by who also have AD. Additional re-
have investigated the effects of an a 15- to 20-minute training period search investigating the effects of ex-
aerobic exercise program on individ- consisting of dynamic balance activ- ercise on the symptoms of AD
ities and plyometric exercises with

1404 • PhysicalTherapy Volume 87 Number 10 October 2007

 Aging and Down Syndrome

among individuals with DS is 6 Smith DS. Health care management of 23 Pitetti KH, Boneh S. Cardiovascular fitness
adults with Down syndrome. Am Fam as related to leg strength in adults with
needed. Physician. 2OO1;64:1O31-1O38. mental retardation. Med Sci Sports Exerc.
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heimer's disease: a link between develop-
Healthy People 2010 has set a goal of 8 Steiner WA, Ryser L, Huber E, et al. Use of ment and aging. Ment Retard Dev Disabil
the ICF model as a clinical problem-
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1098-1107. Biochemical changes and catecholamine
zens of the United States. ^^ Individu- responses in Down syndrome adolescents
9 Bittles AH, Glasson EJ. Clinical, social, and
als with DS face many challenges as ethical implications of changing life ex- in relation to incremental maximal extr-
[Link] Deflc Res. 1991;35:l40-l46.
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390-393. exercise in persons with Down syndrome.
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tially lead to activity and participa- et al. Aging and dementia among adults 1285-1290.
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drome. Topics in Geriatric Rehabilita- et al. Jog-walk training in cardiorespiratory
Physical therapists who frequently tion. 1998;13:49-64. fitness of adults with Down syndrome.
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Down syndrome ODS): decline in social
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and was accepted May 29, 2007. disabilities. Topics in Clinical Gerontol- Resting metabolic rate is not reduced in
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DOI: 10.2522/ptj.20060334 Retard. 20O5;43:391-4OO.
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ditions in adults with mental retardation: Hip disease in adults with Down syn-
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