1

RUNNING HEAD: ADULTS WITH DOWN SYNDROME

Adults with Down Syndrome

Robert B Yocom

Pima Medical Institute

Professional Capstone O-19JL05

Becky Gauerke
 2
RUNNING HEAD: ADULTS WITH DOWN SYNDROME
Adults with Down Syndrome

Background

Individuals in the Intellectually and Developmentally Delayed (IDD) population are

living longer and healthier lives. In 2007, Branhart et al. estimated that, “Approximately 200,000

to 500,000 individuals over the age of 60 have lifelong developmental delays…” (p. 1399) and

that these numbers are expected to double by the year 2030. The most common cause of

intellectual and developmental delays is the genetic disorder called trisomy 21 – commonly

known as Down syndrome (DS). Recent estimations by Graff et al. (2017) place the DS

population in the United States to be 206,366 individuals with 57% (approximately 117,626

individuals) over the age of 20 and 28% (approximately 57,782 individuals) that are over the age

of 40. These trends show an aging population of DS individuals that is not only living longer, but

also faces the struggles of aging such as balance and gait deficits, generalized weakness,

decreased cardiovascular capacity, and osteoporosis earlier in their life compared to the general

population. As a result, an increasing number of individuals with DS will require medical

interventions to address these issues, many of which can be addressed through skilled physical

therapy (PT). Services are already well-researched and made readily available in the pediatric

setting but both supportive research and the availability of services becomes less clear as this

population reaches adulthood. The purpose of this literature review is to present current literature

on the importance and impacts of PT on adults with DS and the importance of facilitating an

effective transition between pediatric and adult care so that it may presented to adults with DS,

their guardians, and medical professionals as part of the senior capstone project.

Literature Review
 3
RUNNING HEAD: ADULTS WITH DOWN SYNDROME
Individuals with DS are living longer lives as their life expectancy continues to increase

with continued medical advancements. Graff et al. (2017) conducted a study to estimate the life

expectancy and current population of the DS population. This study used the live birth data from

the year 1900 onward as well as mortality rates specific to the DS from 40 previous studies to

successfully improve the accuracy of previous estimations. Life expectancy for DS was 26 years

in 1950 but has now risen to 58 years with these numbers expected to continue to rise over the

next two decades (Graff et al., 2017). With over half of the DS being over the age of 20 and the

continual rise in life expectancy, DS has begun the transition of being classified as a pediatric

disorder to being classified as a life-long disorder (Graff et al., 2017). However, the transition of

care from the pediatric setting to the adult setting has been difficult in recent years. Orlin et al.

(2014) note that the biggest barriers in this transition, “… are the inability of child-centered

health care professionals to ‘let go’ of their relationships with children they have served for years

and a distrust of adult-centered health care services” (p. 1050-1052).

Orlin et al. (2014) gathered data from 70 previous studies to address deficits in the

continuum of care for individuals with life-long disabilities (LLDs), including DS. The primary

focus of the study is on the transition from pediatric care to adult care. It should be noted that the

authors do not provide inclusion/exclusion criteria for their gathered studies, however, they do

address deficits in their selected studies when these deficits arise. The team found that

individuals with LLDs face multiple barriers when attempting to find health care services, health

care coverage, and community activity opportunities. When individuals with LLDs – including

DS – attend school under the age of 21, healthcare services such as physical and occupational

therapy are provided without charge as per the Individuals with Disability Education Act (Orlin

et al., 2014). However, after the age of 21, these individuals are now responsible for both finding
 4
RUNNING HEAD: ADULTS WITH DOWN SYNDROME
their own care/services and paying for these services. Due to these barriers, it is not uncommon

for individuals in this population to not receive the appropriate level of care they need after the

age of 21 (Orlin et al., 2014). When comparing these findings with the findings of Graff et al.

(2017), it is possible that over half of the DS population does not receive the level of care

appropriate for them. Further research is needed to draw more accurate correlations.

Regardless of the level of care individuals with DS receive upon entering adulthood, they

all face the complications of aging more quickly than the general population. Bieć et al. (2014)

conducted a study comparing the balance between 10 young adults (mean age of 29.8 years) with

DS to 11 doctoral students. The small sample size and lack of randomization of the volunteers

should be noted when considering the findings of this study. When compared to their

counterparts, the adults with DS performed comparably in situations familiar but demonstrating a

marked deficit in postural balance when introduced to a new environment or unpracticed

situation (Bieć et al. 2014). Another study by Horvat et al. (2013) compared the differences in

gait control between 12 young adults (aged 18-28 years) with DS and 12 adults without

disabilities. This study also presents with a small sample size but with improved randomization

of both testing groups. Horvat et al. (2013) discovered that the adults with DS demonstrated

minimal gait inconsistencies compared to their counterparts when a preferred gait cadence and

stride length was allowed. However, the adults with DS demonstrated a quickened deterioration

of gait quality when additional variables were introduced such as a lengthened stride length,

increased cadence, or the incorporation of additional tasks such as buttoning a shirt or carrying a

tray with glasses. These studies both reveal some of the deficits that adults with DS face even at

a relatively young age. Further, both studies saw a significant improvement in performance of

balance or gait (relative to the study) once the adults with DS were given the opportunity to
 5
RUNNING HEAD: ADULTS WITH DOWN SYNDROME
practice after the testing (Bieć et al., 2014; Horvat et al. 2013). This suggests that a regular

regimen of varied balance and gait training would be beneficial to young adults with DS.

Regular exercise for adults with DS is not only beneficial for balance and gait deficits,

but also for cardiovascular and musculoskeletal health. Barnhart et al. (2007) previously

established that adults with DS demonstrate lower peak oxygen consumption, minute ventilation,

and heart rate during exercise testing when compared not only to the general population, but also

when compared to individuals in the IDD population without DS. When investigating the

musculoskeletal system, adults with DS demonstrate decreased muscle tone and joint

hypermobility increasing their risk for hip dysplasia and dislocation, excessive ankle/foot

pronation, and an increased incidence of early-onset arthritis (Barnhart et al., 2007). Barnhart et

al. (2007) also found that regular participation in an exercise program for 30 minutes 3 times a

week over 12 weeks improved balance, endurance, and muscular strength. More recently,

McKelvey et al. (2013) investigated the bone density of 30 adults with DS (aged 19 – 52 years)

when compared to 8 adults without DS. This study demonstrates sound methods and reliability

but lacks variety in the DS testing group and a small control group. Over half (53.3%) of the

adults with DS were found to have low bone mineral density (BMD) across multiple sites

including the lumbar spine, distal radius, femoral neck, and the proximal femur (McKelvey et al.,

2013). These findings of low BMD did not correlate to normal predictive factors such as BMI,

diet, or a family history of osteoporosis. The presence of low BMD as well as an increased

incidence of osteoporosis (Branhart et al., 2007) suggests that this population would benefit from

medical interventions to improve bone density. However, there are currently no FDA-approved

interventions aside from regular and progressive resistance exercise (McKelvey et al., 2013).
 6
RUNNING HEAD: ADULTS WITH DOWN SYNDROME
The benefits of exercise go beyond PT-guided exercise and include community general

wellness programs. Rimmer et al. (2004) demonstrated the effectiveness of a wellness exercise

program with a cohort of 52 adults with DS. This study demonstrated a good variety of

participants in a good sample size and is only limited by the relative age of the study. The adults

with DS in this study followed an exercise program for 45 minutes 3 times a week over 12 weeks

and demonstrated improvements in cardiovascular endurance, muscular strength, and a slight

reduction in body weight (Rimmer et al. 2004).

Limitations

A common limitation in the presented research is the use of small sample sizes for both

test and control groups. Further, there is a lack of research focusing on adults of advanced age

(40 years and older) with DS. Both limitations may be influenced by the relatively recent

increase in life expectancy as well as the more common classification of DS as a pediatric

disorder compared to a life-long disorder. Another limitation in current research is a lack of

research within the last 5 years. Apart from the population estimation by Graff et al. (2017), all

the research presented in this review was published in 2014 or earlier. Finally, there is a lack of

research concerning the long-term impacts of either PT or exercise interventions for adults with

DS especially when concerning BMD. Further research into these areas would help to improve

the ability of both physicians and physical therapists to create effective long-term plans for this

population.

Analysis

Current research shows that individuals with DS continue to face difficulties as

they enter adulthood including balance deficits, gait deficits, strength deficits, and an early onset
 7
RUNNING HEAD: ADULTS WITH DOWN SYNDROME
of both osteoarthritis and osteoporosis. These adults with DS are also facing these difficulties as

early as their late-20s (Bieć et al., 2014; Branhart et al., 2007; Horvat et al., 2013; McKelvey et

al., 2013) – much earlier than the general population – and it can only be assumed that these

difficulties will become more significant as the individuals continue to age. In all the studies that

investigated balance, gait, or strength deficits, the implementation of a regular and progressive

exercise program resulted in improved performance. Given the need for continued variation

(Bieć et al., 2014; Horvat et al. 2013) and the need for an individualized program (Orlin et al.,

2014) the expertise provided in the PT setting would create an environment for success, though

further research is needed to investigate the long-term benefits. While there is a lack of evidence

concerning the efficiency of a resistance program in improving BMD specifically for adults with

DS, the incorporation of a progressive resistance program is regularly utilized when treating

osteoporosis in the general population. The use of general wellness programs should also be

considered for the well-being of adults with DS so long as the individuals are cleared by their

physicians to participate in exercise (Rimmer etal., 2004).

While PT interventions or general wellness programs could address these physical

barriers, the presence of a poor transitional system from pediatric to adult care impedes the

ability of this population to receive appropriate care. The research presented here demonstrates

multiple barriers including an inability for medical personnel to “let go” of their patients,

financial barriers, and a mistrust of adult care providers (Orlin et al., 2014). Should these barriers

be allowed to impede the transition from pediatric to adult care, there is the potential that these

adults – which accounts for 57% of the total DS population (Graff et al., 2017) – will not receive

the appropriate level of care. In this case, it is imperative that the pediatric medical team treating

the individual with DS provides the means to transition the patient to adult care. This review has
 8
RUNNING HEAD: ADULTS WITH DOWN SYNDROME
presented evidence demonstrating the importance and impacts of PT on adults with DS in the

short term as well as the importance of facilitating an effective transition from pediatric to adult

care so that this information may be presented as part of the senior capstone project.
 9
RUNNING HEAD: ADULTS WITH DOWN SYNDROME
References:

Barnhart, R. C., & Connolly, B. (2007). Aging and down syndrome: Implications for physical

therapy. Physical Therapy, 87(10), 1399-406. Retrieved from

https://search.proquest.com/docview/223115071?accountid=89121

Bieć, E., Zima, J., Wójtowicz, D., Wojciechowska-Maszkowska, B., Kręcisz, K., & Kuczyński,

M. (2014). Postural stability in young adults with down syndrome in challenging

conditions. PLoS One, 9(4) doi:http://dx.doi.org/10.1371/journal.pone.0094247

Graaf, G. de, Buckley, F., & Skotko, B. G. (2016, September 8). Estimation of the number of

people with Down syndrome in the United States. Retrieved from

https://www.nature.com/articles/gim2016127

Horvat, M., Croce, R., & Barna, M. (2013). Gait Deficiencies in Individuals with Down

Syndrome: A Motor Control Perspective with Implications For Pedagogical Intervention.

International Journal of Arts & Sciences, 6(3), 57-65. Retrieved from

https://search.proquest.com/docview/1496695660?accountid=89121

McKelvey, K. D., Fowler, T. W., Akel, N. S., Kelsay, J. A., Gaddy, D., Wenger, G. R., & Suva,

L. J. (2013). Low bone turnover and low bone density in a cohort of adults with down

syndrome. Osteoporosis International, 24(4), 1333-8.

doi:http://dx.doi.org/10.1007/s00198-012-2109-4

Orlin, M. N., Cicirello, N. A., O'Donnell, A.,E., & Doty, A. K. (2014). The continuum of care

for individuals with lifelong disabilities: Role of the physical therapist. Physical Therapy,

94(7), 1043-53. Retrieved from

https://search.proquest.com/docview/1543474059?accountid=89121
 10
RUNNING HEAD: ADULTS WITH DOWN SYNDROME
Rimmer, James & Heller, Tamar & Wang, Edward & Valerio, Irene. (2004). Improvements in

Physical Fitness in Adults with Down Syndrome. American journal of mental retardation:

AJMR. 109. 165-74. 10.1352/0895-8017(2004)109<165:IIPFIA>2.0.CO;2.