Running head: DOWN SYNDROME

Epidemiology of Down Syndrome

Jacqueline L. Scudder, BSN

Hawai’i Pacific University

November 9, 2009
DOWN SYNDROME 2

Abstract

Researchers have described the condition of Down syndrome, its prevalence, and its impact upon

the client, his or her family, and the community. Statistical data describing this population are

reported from international, national, and state levels, while assistance resources are indicated at

both the national and state levels. Community health nurse roles are described in scenarios of

primary, secondary, and tertiary prevention to illustrate methods of serving the needs of persons

who have Down syndrome, as well as the needs of their families. Concluding statements lend

insight with recommendations of change to better provide for this special group of persons with

physical and intellectual challenges.

DOWN SYNDROME 3

Table of Contents

Introduction………………………………………………………………………………………..5

I. Overview of the Problem……………………………………………………………………...5

A. Definition…………………………………………………………………………………..5

B. Impact………………………………………………………………………………............6

1. Client………………………………………………………………………….………..6

2. Family…………………………………………………………………………….…....7

3. Society…………………………………………………………………………….....…8

C. Epidemiology Triad……………………………………………………….……………..…9

1. Agent…………………………………………………………………….…………..…9

2. Host……………………………………………………………………….....................9

3. Environment………………………………………………………………………......10

II. Literature Review/Statistical Evidence…………………………………….……………..…11

A. International………………………………………………………………………………11

B. National………………………………………………………………………….…….….13

C. State/Local……………………………………………………………………………...…14

III. Cultural and Ethnic Considerations…………………………………………………….…...15

IV. Community Resources………………………………………………………………………16

A. National…………………………………………………………………………………...16

B. State/Local………………………………………………………………………………...17

V. Healthy People 2010………………………………………………………………………...18

A. Objective 6-1…………………………………………………………………………...…18

B. Objective 21-10 ………………………………………………………………………..…19

DOWN SYNDROME 4

VI. Roles of Community Health Nurses…………………………………………………….…20

A. Primary Prevention…………………………………………………………………….20

1. Public health nurse……………………………………………………………….....20

2. Parish nurse…………………………………………………………………………21

B. Secondary Prevention…………………………………………………………………..22

1. Home health nurse………………………………………………………………….22

2. School nurse………………………………………………………………………...23

C. Tertiary Prevention……………………………………………………………………..24

1. Occupational health nurse…………………………………………………….…….24

2. Institutional nurse ……………………………………………………………….…26

VII. Proposal for Change……………………………………………………………………….27

VIII. Conclusion…………………………………………………………………………………29

IX. References………………………………………………………………………………….30

X. Appendices…………………………………………………………………………………38

A. Epidemiology Triangle for Down Syndrome…………………………………………..38

B. Incidences of Down Syndrome Birth Relevant to Maternal Age………………………39

C. Down Syndrome Pregnancy Terminations: 2005 ……………………………………..40

D. Advanced Age Pregancy; Termination, Live, and Still Births: 2005……………….....41

E. US 17 States Down Syndrome Births/Race: 1983-1990……………………………….42

F. Birth Defects State Profile……………………………………………………………...43

G. Average Fertility Rates, Births per Woman, 1980 and 1999…………………………..44

H. National Community Resources………………………………………………………..45

I. State/Local Community Resources……………………………………………………..47

DOWN SYNDROME 5

Epidemiology of Down Syndrome

The March of Dimes (MOD) (2009, p. 1) described Down syndrome as a human

condition caused by a chromosomal malformation, which results in intellectual impairment and

morphological changes; moreover, major physical defects are common at birth. Nationally, each

year this genetic birth anomaly occurs at the rate of 13 in 10,000 births; approximately 1 in 800

according to the Centers for Disease Control & Prevention (CDC) (2009, p. 2). The National

Down Syndrome Society (NDSS) (2009a, p. 1) reported that at least 400,000 persons with Down

syndrome live within the United States; also, that their average life expectancy may reach as high

as 60 years if their health needs are successfully met.

The National Institutes of Health (NIH) (2008, p. 1) noted that the Down syndrome birth

rate within the U.S. is similar throughout the world; its genetic prevalence is not to any particular

race or economic class. The lives of people with Down syndrome may be lived productively;

however, some require more assistance to learn, develop, and integrate effectively into their

families and society. Some may face substantial and costly medical care to treat associated

congenital defects (CDC, 2009, pp. 2-3). Being born with Down syndrome not only presents

personal challenges, but for some individuals it may require health care interventions that can

challenge families, and strain the resources of their communities (Van Riper, 2007, p. 124).

Overview of the Problem

Definition

In 1886, J. L. Down was first to technically describe the condition to his medical peers;

thereafter the world discovered Down syndrome to be the most common among genetic birth

defects (Ranweiler, 2009, p. 21). The focus of this report is toward the syndrome’s treatment and

its effect upon people’s lives. Only a brief pathophysiology will be described by using the
DOWN SYNDROME 6

trisomy (triple chromosome) 21 nondisjunction type of the 3 forms. It accounts for nearly 95% of

all Down syndrome occurrences, and is due to cell division yielding an extra 21st chromosome

(Hartway, 2009, p. 28; NIH, 2007, p. 1). Although the cause of this anomaly is unknown, it is

believed that environmental and lifestyle factors have no causal effect (NIH, 2008, p. 2).

The risk of producing offspring with Down syndrome increases with maternal age:

roughly 1 incident among 1,250 births at 25 years of age, then rising to 1 for every 100 births at

40 years of age (NIH, 2007, p. 2). Although older women have higher rates, about 80% of the

total births occur with younger women under 35 years of age (NDSS, 2009a, p. 1). This may be

only because they represent the largest numbers in reproducing populations (NDSS, 2009a, p. 1).

Prenatal screening services help families make a variety of important decisions. Whether

choosing to forego pregnancy or to prepare for the infant’s needs, the American College of

Obstetricians and Gynecologists (ACOG) reported better outcomes for families who knew in

advance that they would have a baby with Down syndrome (MOD, 2009, pp. 5-6).

Impact

On client. Persons born with Down syndrome often have congenital defects. The most

threatening, in over 50% of neonates, are disorders of the heart; malformations such as patent

ductus arteriosus (James & Ashwill, 2007, p. 1009). Other complications include defects in

respiratory, gastrointestinal, endocrine, visual, musculoskeletal, and reproductive function; males

are usually infertile (MOD, 2009, pp. 2-3; Van Dyke, McBrien, & Sherbondy, n.d., p. 5).

Physical characteristics are often similar for people with Down syndrome: a shortened head,

slanted palpebral fissures, epicanthal folds, an extended tongue, low ear placement, and a single

crease across each palm (James & Ashwill, 2007, p. 1009).

DOWN SYNDROME 7

The intellectual limitations of persons with Down syndrome may be moderate, or even

mild; fewer acquire severe mental retardation (MOD, 2009, p. 4). It is, in part, due to the

diminished mental capacity of some that they may become victims of sexual assault; therefore,

adequate guardianship and guidance are essential for their personal safety (Connecticut Sexual

Assault Crisis Services, n.d., pp. 1-2). Hayes (2007, p. 404) reported that persons with Down

syndrome age sooner; only 40% are expected to live beyond 60 years of age. Coppus et al.

(2006, pp. 774-775) learned that 17% developed Alzheimer’s disease after 45 years of age;

however, the prevalence was higher among those living within institutions, and lower among

those older than 60 years of age in general. Coppus et al. (2006, p. 769) explained that their

propensity for developing Alzheimer’s disease is due to the over expression of a gene within

their extra chromosome. Ryan and Carey (2009, p. 25) discussed a case study in which an aging

person with Down syndrome succumbed to life altering dementia. What impacted their life was

not only the statistically prevalent inevitability of premature aging, as Hayes (2007, p. 407)

described, but also, the impact of outliving a caregiver parent.

Alderson’s (2001, p. 628) qualitative study faulted the medical model’s analysis,

discovering that it is more a result of society’s exclusion and neglect that erodes the health of

persons with Down syndrome. Alderson (2001, p. 629) argued that many are very capable of

living a productive life, as well as contributing back to the community. Repeatedly cited is that

the greatest impact on people with Down syndrome is not their disability, but rather society’s

attitude toward them (Alderson, 2001, p. 628; Carr, 2008, p. 389; Hayes, 2007, p. 405).

On family. Ranweiler (2009, p. 21) described a debilitating type of stress upon families

whose babies are born with challenges from Down syndrome. Van Riper (2007, pp. 117-118)

observed certain families with adaptation capabilities similar to social models; demonstrating a
DOWN SYNDROME 8

phenomenal ability to cope. The majority of the families that were studied reported that working

through crisis and unexpected challenges became bearable, and even rewarding; strong

communication styles enhanced their access to resources (Van Riper, 2007, p. 117). The costs

exceeding the limitations of private health insurance can place a family in extraordinary debt. It

was noted by J. Awakuni, a state human services case manager (personal communication,

October 20, 2009), that the government funds agencies to facilitate insured health care for

families who need assistance. Also, A. Fuller, an administrator for an adult day center (personal

communication, November 3, 2009) described Easter Seals (n.d., p. 1) as a nonprofit agency that

supports children and their families with special care needs.

On society. The impact on society in monetary terms is reflected here. The figures in

parenthesis were made by utilizing a consumer price index calculation method from the U.S.

Bureau of Labor Statistics (n.d. p. 1) to predict current costs for 2009. A 1996, California based,

study estimated that the average annual care, education, and medical costs, per individual with

Down syndrome, totaled $353,379 (486,418) at a 2% discount rate; otherwise, $156,155

(214,944) if discounted at 10% (US Environmental Protection Agency [USEPA], n.d.a, p. 8).

Discounting represents a current consumption with an estimated future value (USEPA, n.d.b, p.

A5). The same study estimated that after their first year of life, an individual’s annual medical

costs are reduced to less than 27% by their 18th birthday; annual age related costs were $27,265

(37,530) during infancy, and $7,529 (10,363) throughout adulthood (USEPA, n.d.a, p. 7).

One positive economic impact on society is the amount of public service related jobs that

are created through assistance programs for persons with Down syndrome. The NDSS (2009b,

pp. 1-2) works toward increasing research funding and services for clients. In doing so, they have

stimulated research driven by an economy in the millions, a recent annual budget of more than 2
DOWN SYNDROME 9

million dollars, and the employment of a full time professional administrative staff (NDSS,

2009b, pp. 1-2). An input of the term “down syndrome agencies” in a Google internet search

request, elicits well over a million listings (Down Syndrome Agencies, 2009, p. 1). Random

inspection of the listings shows numerous organizations providing services for persons with

Down syndrome throughout the world. It is inferred that society can attribute many positions of

employment, and economic return, as the indirect result of providing for this population’s needs.

Epidemiology Triad

Agent. Maurer and Smith (2009, p. 169) reported that the epidemiology triad represents 3

systems; capable of altering health in a concept of tensions (see Appendix A). Studies have

resonated that the primary agent of causation in Down syndrome has eluded being identified

since its trisomy location was discovered in the 1950’s (Freeman et al., 2007, p. 63; Hartway,

2009, p. 27). Ranweiler (2009, pp. 17-21) illuminated that the condition is primarily attributed to

chromosomal separation failure during reproductive cell replication, and that causative agents

may include any of the following: a randomly occurring meiotic nondisjunction; either parent

contributing a defective chromosome; also, a mode of transmission during normal reproductive

cell fertilization with one cell having trisomy of the 21st chromosome. Research hypothetically

pointed to one agent as a hormonal imbalance which initiates events leading to anaerobic

induced oocyte and spindle alterations; events leading to Down syndrome (USEPA, 2004, p. 1).

Host. Unlike diseases that affect hosts as persons, the Down syndrome host is no more

than a gamete (germ or human reproductive cell) which has yet to divide and unite in fertilization

(creation of the embryo) with another (Lowdermilk & Perry, 2006, p. 189; Hartway, 2009, p.

27). A random act occurs usually during the first meiotic phase (chromosome division) where a

germ cell may retain (failure to disjoin DNA [genetic information]) an extra chromosome;
DOWN SYNDROME 10

thereafter, any subsequent fertilization with a normal germ cell may result in trisomy 21

embryonic aneuploidy (47 instead of 46 chromosomes) (Lowdermilk & Perry, 2006, p. 182).

During development, more than 50% of nondisjunction affected embryos will succumb to

malformations that are inconsistent with life; spontaneously aborted, they endure for only a

portion of the embryonic/fetal journey (James & Ashwill, 2007, p. 1008).

The highest risk factor for the host is with pregnancies in women over the age of 35

(Ranweiler, 2009, p. 21; NDSS, 2009c, p. 1) (see Appendix B). Sherman, Lamb, & Feingold

(2006, pp. 578-579) clarified that either a male or female reproductive cell may fail to disjoin,

however, the female ova encounter the highest incidence, while the female donor’s age is the

greatest contributor in all known risks, followed by the 2nd highest risk factor being maternal

recombinant alteration (shortened recombination at the 21st chromosome). Yet other risk factors

for the host include females who have Down syndrome, because they will have nearly a 50%

chance of reproducing the syndrome in their offspring (Van Dyke, McBrien, & Sherbondy, n.d.,

p. 5). Hartway (2009, p. 28) stated that parents of an affected child may, at a minimal risk,

produce a subsequent child with Down syndrome. Mutton, Alberman, & Hook (1996, p. 392)

reported one notable propensity of all hosts: the sex ratio in trisomy 21 fetuses is consistently

male dominant at 1.24; also expressed as nearly 55 males for every 45 females in 100

pregnancies.

Environment. What lies outside of the agent and host is the environment. Maurer and

Smith (2009, p. 169) described environmental factors to include societal concepts: political

status, economic position, and cultural events. Hayes (2007, p. 405) reported that no current

evidence attributes radiation, viruses, or immunological diseases to acquiring Down syndrome.

Human reproduction alone represents an environmental, but random, risk of producing a child
DOWN SYNDROME 11

with the syndrome. This component, factored with the largest reproducing age group in the

nation, is what Ranweiler (2009, pp. 21, 17) reported as women below 35 years of age who

contribute to greater than 50% of annual Down syndrome births; an environment high in fertility.

In countries where genetic counseling, prenatal screening, and family planning are

absent, banned, or limited, the environment advances Down syndrome birth rates (Khoshnood et

al., 2006, p. 2143). Places where religious practices or fundamentalist beliefs make abortion

illegal, reported having triple the global prevalence of 10 in 10,000 newborns with Down

syndrome (Weijerman et al., 2008, p. 17). Specifically, Khoshnood et al. (2006, p. 2142) learned

that women in low socioeconomic positions held twice the risk of having a child with Down

syndrome over women in higher positions. These women are potentially maligned by injustices

of fair access to information and quality prenatal screening as compared to their counterparts.

Otherwise, in countries that promote genetic research, reproductive counseling, and

prenatal screening it is reasonable to deduce that such factors would lessen the impact of the

known environmental risk factors upon their populations (Ranweiler, 2009, p. 21). In absence of

these factors, the genetically based prevalence of Down syndrome is similar worldwide, without

any preference to race, class, or culture (NIH, 2008, p. 1).

Literature Review/Statistical Evidence

International

It is undisputed that Down syndrome is the most common chromosomal variant in births

throughout the world (Khoshnood et al., 2006, p. 2139). Presently, its live birth rate is 10 in

10,000 across the globe’s 200 countries, which are approaching a population of 7 billion persons

(Weijerman et al., 2008, p. 17; US Census Bureau, 2009, p. 1). Data gathered by the Central

Intelligence Agency (CIA) (2009b, p. 1) aided in estimating that over 135,000 Down syndrome
DOWN SYNDROME 12

births will occur worldwide in the current year. The United Nations (UN) (1999, p. 1) calculated

that the largest growth projection is in persons over 60 years of age; presently comprising 10% of

the world’s population, and predicted to double in rate over the next 4 decades. Their increasing

numbers combined with the recent increase in Down syndrome life expectancy, has caused

concern over the world’s capability in meeting the future service needs of the subset population

(Veitch, 2007, p. 1).

The following describes a few countries whose culture, economics, and politics affect

Down syndrome birth rates. The United Arab Emirates (UAE) government does not have

provisions for family planning; furthermore, their Muslim influenced penal code prohibits

abortion (UN, n.d., p. 154; Global Security, 2006, p. 1). The live birth prevalence rate of babies

with Down syndrome in the UAE was reported to be 31 per 10,000 in 2003, while Ireland’s was

reported at only 17 per 10,000 (Weijerman et al., 2008, p. 17). Both of Ireland’s regions prohibit

abortion, influenced by a history of Catholicism (Government of Ireland, n.d., p. 1; Epigee

Health and Fitness, 2009, p. 2). At 7 Down syndrome births in 10,000 live births above the world

rate, Ireland’s prevalence is still lower than the UAE primarily because Irish women have access

to family planning and prenatal services; furthermore, they may obtain a legal abortion across

their northern border within England (YouthNet UK, 2009, p. 1).

In contrast, Weijerman et al. (2008, p. 17) reported that in 2003, France had one of the

lowest Down syndrome live birth prevalence rates in the world, at less than 8 in 10,000. Data

from the International Clearinghouse for Birth Defects, Surveillance, and Research (ICBDSR)

(2007, p. 10) indicated that in 2005, Paris, France had one of the highest Down syndrome

pregnancy termination rates (over 80%) in the world, from among 21 samples (see Appendix C).
DOWN SYNDROME 13

The ICBDSR (2007, p. 8) reported that their high rates of Down syndrome pregnancies, in

females over 35 years of age, correlated with their high rates of terminations (see Appendix D).

Khoshnood et al. (2006, p. 2139) described the French government as promoting the

reduction of their country’s Down syndrome birth prevalence rates in conjunction with offering

quality prenatal screening services. The number of European women, including French women,

who became pregnant after age 35, had increased three fold over the past 2 decades (Weijerman

et al., 2008, p. 17). Altogether, proactive government influence, high pregnancy termination rates

correlating with an older child bearing group, and a larger population of child bearers over the

age of 35 years, may explain why the French metropolis has one of the lowest prevalence rates of

Down syndrome live births in the world.

National

The question posed by the guardian institution of this report, “Is the problem in the US

worse or better?” presented an ethical quandary in review of current data on changing societal

values. A rising number of persons have reported their indifference to the reference of Down

syndrome as being a problem (Martin, 2009, p. 1). These opposing beliefs are discussed in

subsequent sections of this paper.

The US live birth rate for Down syndrome babies was reported at 13 in 10,000; slightly

higher than the world average of 10 in 10,000 (CDC, 2009, p. 2; Weijerman et al., 2008, p. 17).

A comprehensive study, in prior decades, reported a prevalence of only 9.2 in 10,000 live births

across 17 states, approximately 25% of the nation’s entire live birth population for the period of

1983 to 1990 (CDC, 1994, p. 1). This report may explain how Khoshnood et al. (2006, p. 2139)

understood that the US underestimated Down syndrome birth rates in utilizing vital statistics for

computations. The significance of the older CDC report was that the participating states were
DOWN SYNDROME 14

representative of all of the US regions, and more important, it revealed prevalence rates

correlating to race: differences were noted with 11.8 in Hispanic, 9.2 in white, and 7.3 in black

infants with Down syndrome per every 10,000 live births (CDC, 1994, p. 1) (see Appendix E).

The subsequent culture section of this paper will discuss the population growth in America,

relative to culture.

In 2005, Utah’s pregnancy termination rate was one of the lowest in the world at 4.2%;

Utah also documented having low rates of older childbearing women who accounted for less

than 11% of the pregnancy terminations related to Down syndrome (ICBDSR, 2007, p. 8) (see

Appendix C). In 2005, Utah’s Down syndrome birth prevalence rate was similar to the national

rate, at 13.19 per 10,000 live births (ICBDSR, 2007, p. 9). In 2004 the Latter Day Saints (LDS)

represented over 62% of Utah’s population (Canham, 2009, p. 1). LDS teaching prohibits

abortion; however, an exception is noted in cases where severe fetal defect is expected to hinder

neonatal survival (Ontario Consultants on Religious Tolerance, 2006, p. 3). Consistently, the

population size in child bearing women of advanced age raises the numbers of Down syndrome

pregnancies, while socioeconomic factors, education, and opportunity, influence outcomes in

live birth rates (Weijerman et al., 2008, p. 17; Khoshnood et al., 2006, p. 2142; CDC, 1994, p. 3).

Considering Utah’s religious influence and low numbers of older pregnancies, their birth rates

are understandable using similar conclusions on world rate analogies.

State/Local

Vital statistics from the 4 counties within the Hawaiian Islands indicated that 19,453

births occurred during 2008 (State of Hawaii Department of Health Office of Health Status

Monitoring, 2009, p. 3). Another study showed that births averaged 19,843 per year over 14

years from 1986 to 1999 (Forrester & Merz, 2003, p. 130). Their data further provided that all 4
DOWN SYNDROME 15

counties held similar birth defect rates, averaging 4.25% of births overall; collectively, the 3

smaller counties exhibited a Down syndrome birth rate of approximately 14 per 10,000

(Forrester & Merz, 2003, pp. 130, 132). More recently, the National Birth Defects Prevention

Network (2009, p. 1) estimated that from 2001 to 2005, the state of Hawaii averaged 22 cases of

Down syndrome annually, with 12.58 cases noted in every 10,000 births (see Appendix F). A

state health survey indicated that Hawaii’s population is comprised of multiple races with none

in dominant proportion, and greater than 90% of its residents have health care insurance (Office

of Health Status Monitoring, 2009, p. 1). Hawaii reportedly had a higher number of persons with

no religious identity, in comparison to other states (Gallop, 2009, pp. 5-6). The information

explains why Hawaii’s prevalence rate in Down syndrome births is similar to the national rate.

Cultural and Ethnic Considerations

Hispanic, Latino, Americans were described as comprising the largest minority

population in the US at over 15%, with a majority lacking insurance coverage for health care

(CIA, 2009a, p. 2; Maurer & Smith, 2009, p. 187). In a study of over 1,000 women of diverse

ethnicity, Caughy, Washington, and Kuppermann (2008, pp. 333.e2-e4) found that almost half of

the Latinas perceived that prenatal testing was associated with miscarriage and having a fetus

with Down syndrome. Harcombe (2009, p. 29) reported that the anxiety women experience in

pregnancy screening is due to their limited knowledge for making decisions; attributable to

service provider methods of communicating to clients about the risks involved. Misperceptions

of prenatal screening risks were evident when a Latinas group was reluctant to participate in

funded services (Caughy, Washington, & Kuppermann, 2008, p. 333.e6).

Latinas culture and advanced maternal age, over 35 years, were factors in a Los Angeles

county study having high Down syndrome birth rates of 16.9 per 10,000 births, and low prenatal
DOWN SYNDROME 16

screening service rates at 12% (CDC, 1994, p. 3). The US Latino population is expanding rapidly

(Maurer & Smith, 2009, p. 187). The World Bank (2004, p. 18) explained that low fertility rates

(small families) are associated with healthier populations, because prosperity lowers morbidity

and mortality fears that promote having more children to rely upon (see Appendix G). Maurer

and Smith (2009, p. 187) indicated that the US Hispanic population has major obstacles in

receiving adequate health care for several reasons, including challenges with migration, language

adaptation, and the position of being one of America’s poorest minority groups. None of the

studies attributed higher Down syndrome birth rates to maternal age in correlation with Catholic

values which prohibit abortion (US Conference of Catholic Bishops, n.d., p. 1; Epigee Health

and Fitness, 2009, p. 2). The factors presented and the lack of a supportive health care policy

should indicate a continuance of the current problems that American Latinos experience,

including misinformation problems encountered in prenatal screening for Down syndrome.

Community Resources

National

The National Down Syndrome Society’s mission is to provide nationwide advocacy for

the appreciation and inclusion of persons with Down syndrome (NDSS, 2009b). It serves three

levels of prevention: primary, secondary, and tertiary. In primary prevention the agency provides

research funding that studies causes of Down syndrome. Recipients of NDSS awards have

included post-doctoral studies on subjects such as phenotype of segmental trisomy, and the

isolation of expressed DNA sequences in chromosome 21. The NDSS offers secondary

prevention in research, information, and referrals that provide a complete view of the nature,

causes, and risks of Down syndrome. Its tertiary prevention sponsors research to address the

cultural needs of families. A current study is gathering responses from African Americans about
DOWN SYNDROME 17

their support needs, under the guidance of the University of South Carolina. NDSS provides

information and referrals for services addressing the needs of persons with Down syndrome

across their life span: early intervention, physical therapy, and language development from birth

to 3 years of age; preschool entry to adulthood; transition planning; community life; vocational

opportunity; health care; and advocacy services.

The National Down Syndrome Congress (NDSC, 2009) is dedicated to empowering

persons with Down syndrome and influencing others to understand their value. NDSC is

culturally sensitive and offers public information in the Spanish language. They provide services

at all of the three levels of prevention. The NDSC promotes ethics in research on Down

syndrome, educates all persons about all subjects on Down syndrome, creates public policy,

promotes self-advocacy, and assists in fully integrating clients into community life. Their newest

campaign promotes awareness about the fact that persons with Down syndrome are more alike

than they are different from others (NDSC, n.d.). The NDSC displayed a nine video segment of

testimonials from persons with Down syndrome. Their performances showed a very normal

aspect of all humans who endeavor to enjoy full lives (see Appendix H).

State/Local

Goodwill Industries of Hawaii (n.d.) addresses tertiary needs of persons with Down

syndrome, and others with developmental needs. The services offered include teaching self-care,

day activities, and vocational training. The job training offered increases their clients’ abilities to

obtain competitive employment. While their personal assistance programs and day activities

centers offer more individual training in personal care and safety in activities of daily life.

SECOH (Supporting Exceptional Citizens of Hawaii) (2009) provides services in support

of clients with developmental disabilities. Their commitment is in facilitating every client’s

DOWN SYNDROME 18

integration into the community, with a focus on the importance of encouraging personal choices.

SECOH supports tertiary prevention for persons with Down syndrome who comprise

approximately 5% of all clients. The SECOH center in the Palama area offers a variety of daily

activities, including trips to local stores, libraries, and community events. Transportation, hot

lunches, and craft supplies are included. Their facility is shared with a federal housing project.

This arrangement provides their clients and the residents with a shared sense of community.

Together they participate in crafts, games, and dancing. Other SECOH centers are located at

Kahala, Pearl City, and Waipahu (see Appendix I).

Healthy People 2010

A government initiative, Healthy People 2010 (n.d.c, p. 1), is focused on guiding

Americans toward elevating the quality and duration of their lives. Its second position envisions

a democracy; making efforts to vanquish health inequities that thrive on the disparities between

populations of differing social and economic standing (Healthy People 2010, n.d.c, p. 1).

Objective 6-1

Articulated under a category for persons with disabilities and secondary conditions, the

initiative provided 13 objectives (Healthy People 2010, n.d.a, p. 7). Nurses practicing within

community health disciplines, and the people that they serve, are integral in providing the

momentum for these national goals. For example, objective 6-1 is concerned with defining the

status of persons with disabilities in order to better incorporate their numbers in statistical data

gathering (Healthy People 2010, n.d.a, p. 8). The government recognizes that incorrectly

crediting their numbers influences inadequate appropriations for disability services and research.

Community/public health nurses, taking leadership and research nurse roles, can help

resolve problems with the phenomenon of persons with disabilities being invisible to mainstream
DOWN SYNDROME 19

studies. The opportunity for nurses to improve public surveys include assisting persons in

reporting data, encouraging more participation, and taking the initiative to improve survey

standards in research. Essentially, the community/public health nurse would increase the

effectiveness of health care related research by recognizing research methods which need

improvement and submitting recommended changes. Such efforts contribute to the country’s

larger goal of identifying truer numbers amongst distinct populations, such as persons with

Down syndrome. The ideal outcome would be to increase vital services accordingly, which

consequently would help lessen the health care inequities within our nation.

Objective 21-10

Healthy People 2010’s (n.d.b, p. 28) objective 21-10 is to raise the numbers of persons

who regularly obtain professional oral health care. Oral disease and teeth loss are preventable

with the combined efforts of standard home treatment and prophylactic dental services such as

examining and cleaning. A 1996 survey measured that only 40% of persons with disabilities

visited a dentist in the preceding year; whereas, dental visits in 2 other populations measured the

following: non-disabled 45% and college educated 55% (Healthy People 2010, n.d.b, p. 29).

Utilizing deductive reasoning, the group with disabilities may actually have a lower than

40% participation rate. Recall that objective 6-1 reported that too many persons with disabilities

were excluded in public surveys for lacking categories of inclusion. Yet, if they were accurately

counted, consider the jeopardy that some states place upon these adult populations who subsist

on public assistance. Former president of the largest group of Hawaii dentists, D. Teruya,

reported that the state no longer supports routine dental services for this population; only

emergency dental services are funded (personal communication, August 28, 2009).
DOWN SYNDROME 20

In conclusion, a major barrier to our nation’s oral health care goal is the ineffective

recognition of those with disabilities; especially relevant to public survey modalities. Also, there

is a need to improve on assisting such persons to obtain dental services. Finally, dental care

benefits must be provided for those who have developmental challenges, which interfere with

obtaining services. Professional oral health care is necessary to maintain overall health and

prevent disease (Healthy People 2010, n.d.b, p. 2). Nurses in roles of advocacy can take

legislative action. As community leaders they can encourage others to support obtaining dental

care for the underserved with disabilities, including persons with Down syndrome.

Roles of Community Health Nurses

Primary Prevention

Public health nurse. A public health nurse in a research role may study a health related

hypothesis, for example, one that leads to prevention of the chromosomal change which results

in Down syndrome. According to S. Takiguchi, nurse educator and researcher (personal

communication, October 19, 2009), a paradigm change from detecting Down syndrome in utero

to preventing trisomy formation in meiosis would have the potential to ease sociopolitical

tensions across the world. A baccalaureate level public health nurse could initiate such research,

register sample volunteers, and document the data. The main focus of the study would be

primary prevention of Down syndrome. Indirectly, the nurse would aid toward relieving the

stigma associated with abortion that affects health care professionals and the families they serve.

A public health nurse role in advocacy has many choices: acting as liaison to gain support

for research; providing testimony for legislative action; and representing groups facing entities in

power to help reduce health disparities. A nurse may engage in grant writing, pro bono, to help

fund genetic research in preventing nondisjunction trisomy. Another example is advocating for
DOWN SYNDROME 21

legislative action to increase government spending on both genetic counseling services and

research support in the primary prevention of Down syndrome.

A baccalaureate degree nurse, in a public health educator role, could produce a seminar at

either a national or state level. The public outreach would teach about the risk factors in a model

of primary prevention for Down syndrome. The presentation would include introducing

resources in genetic screening for the preconception stage. As a primary prevention agent, the

public health nurse would inform about testing risks, costs, and benefits, as well as provide

reliable information to dispel myths and help families make informed reproductive choices.

Parish nurse. The National Health Ministries (NHM) (Protestant Church USA NHM,

n.d., p. 2) described the role of the parish nurse: teachers and health counselors offering comfort,

guidance, and referrals to help others cope with life events such as birth, death, and transition.

The following is a scenario of a parish nurse in the role of counselor. An older family has

intentions to conceive, and solicit family planning information from a parish nurse. The nurse

informs them about the risk factors involved with age and Down syndrome. The parish nurse

counselor provides additional resources and literature on topics such as adoption, genetic

screening, and health practices; sources of primary prevention for Down syndrome.

As an educator, a parish nurse can reach out to those who visit their parish nurse website.

The International Parish Nurse Resource Center (2009, p.1) contains multiple internet links and

published research that provide education in the primary prevention of Down syndrome. Its CDC

linked search box found multiple publications involving genetic trisomy research. The nurse can

publish information about the ethics encompassing genetic testing; how it involves both science

and the human body in relation to Down syndrome. The nurse can design tutorials that teach

about Down syndrome and its risk factors, or advertise gatherings. As an educator, the parish
DOWN SYNDROME 22

nurse can post stories of inspiration which teach families about the joys of adoption; an

alternative to pregnancy for persons who are at risk for having a child with Down syndrome.

A parish nurse can perform a role of leadership to influence a congregation and bring the

community closer together. Organizing a charity fund raiser involves leadership, coordinating,

and delegating. The nurse would meet with civic representatives, business owners, and

volunteers to conduct a fund raising walk. The purpose would be to raise awareness about the

positive aspects of promoting research in the primary prevention of genetic birth anomalies. This

would include Down syndrome. Focusing on leading a community away from reactive measures

and toward prevention of reproductive issues is a model leadership role in parish nursing.

Secondary Prevention

Home health nurse. The following is a 3 part illustrative scenario. As care provider for

an elderly client in a remote area, a home health nurse discovers a recent unattended home birth

within the client’s family. During the home visit the nurse initiates assessment of the neonate,

and suspects that the baby has Down syndrome. Although home health nurses are not licensed in

advanced practice, they work with the client’s primary physician. In unexpected situations they

may provide limited, direct care as an ethical matter, or establish patient status with an agency.

The nurse’s care includes a careful assessment and documentation of findings to aid with an

initial diagnostic screening for Down syndrome. In addition, information should be gathered

from the family to learn more about their capacity and knowledge in their new role. Technically,

the infant needs to be established as a client with the insurance provider (Maurer & Smith, 2009,

p. 7). Aside from the initial intention and subsequent provisions of the visit, the home health

nurse analyzes the infant’s condition, congruent with the direct care of secondary prevention in

screening and aiding with diagnosis for Down syndrome.

DOWN SYNDROME 23

The home health nurse acts in an educator role by informing the family about available

postnatal tests for Down syndrome, and explaining about the procedure, its risks, and the costs.

Hartway (2009, p. 28) described that diagnostic testing for Down syndrome requires the

collecting of chromosomes, from the baby’s blood, to examine the karyotype (order and numbers

of chromosomes). Skotko (2005, p. 64) advised that in most instances, after a birth, the parents

have no knowledge that their baby has Down syndrome; it requires sensitive and informative

rendering of information. The home health nurse as educator facilitates learning about diagnostic

blood testing in secondary prevention for Down syndrome.

Maurer and Smith (2009, p. 794) indicated that the home health nurse is the foremost

collaborator with other care professionals; the nurse’s collaborative actions create a team that

will meet the client’s needs. The home health nurse initiates a report on the newborn to the

physician and others within the health care agency. Simultaneously, the nurse processes the new

client’s data for medical cost appropriation. Home healthcare services in secondary prevention

for Down syndrome depend upon the home health nurse as a collaborator for services.

School nurse. A school nurse in a research role may develop and implement school

related child screening for Down syndrome and other developmental disorders. One of the goals

in this secondary prevention model would be to find the least invasive screening method. The

nurse would document the research findings, and submit them through the administration.

Research and documentation are necessary to implement changes and justify costs (Maurer &

Smith, 2009, p. 770). Many children with Down syndrome may only demonstrate a mild amount

of developmental delay, and some may show none of the commonly associated physical traits

(Hayes, 2007 p. 406). The school nurse’s research can be instrumental in secondary prevention

of Down syndrome; foremost detection, followed by a goal to provide intervention services.

DOWN SYNDROME 24

A school nurse in a leader role can observe for students with extraordinary individual

needs. In some instances an undiagnosed child with Down syndrome may not be detected until

psychosocial problems arise. Unreasonable expectations and peer pressure from a majority of

advanced children can isolate and disparage a child with undetected Down syndrome. A school

nurse leader can create, design, and implement a secondary preventative screening program for

the late detection of Down syndrome and other learning related challenges. Such a program

could benefit an entire school system, or gain far reaching nationwide implementation.

The following scenario illustrates how school nurses may perform as advocates. A school

nurse discovers a child who has not been diagnosed with Down syndrome. Multiple illnesses

have kept the child from regular attendance and from participating in a school developmental

screening event. The school nurse suspects that the child has significant developmental

challenges, and contacts the parents to offer screening tests. The findings indicate a need for

further diagnostic testing, and those results conclude that the child has Down syndrome. The

school nurse learns about the child’s health challenges with pulmonary problems. It is incumbent

upon school nurses to help facilitate federal and state laws which provide support for children

with special needs. In a role of advocacy, the school nurse works toward bringing the family to

agreeing to continue their child’s education. As a result of the crucial actions taken in secondary

prevention for Down syndrome, the school nurse advocate was able to support the child, and the

child’s family, in providing alternate educational (tutor) services at home while convalescing.

Tertiary Prevention

Occupational health nurse. The World Health Organization (WHO) (2001, pp. 1-2)

explained that it is a goal in occupational health to work toward reducing sickness, injury, and

disability related to working environments. Research may also help bring about reasonable
DOWN SYNDROME 25

accommodations that can aid in removing barriers to employment while making an environment

safer. An occupational health research nurse may study the particular needs of persons with

Down syndrome who engage in employment. Initially the nurse would gather data about the

numbers of those working, their positions, and their levels of ability. The nurse would learn

about how employers train and assign their workers. The study’s findings could statistically

justify recommendations to improve unhealthy aspects of working environments for persons with

Down syndrome. This research role in occupational health nursing promotes tertiary prevention

in Down syndrome; intervention to maintain health in accessible work environments.

The WHO (2001, p. 36) conveyed that research competency, and the capacity to glean

information from publications and bring it into practice, holds a vital role in occupational health

nursing. Nurse educators seek evidenced based knowledge to improve their ability in providing

competent information to clients. An occupational health nurse who continually learns may offer

exceptional educational modules that can improve a client’s learning experience. Nurses promote

tertiary prevention for persons with Down syndrome by providing developmentally focused

occupational health education on maintaining health within the work place.

Carr (2008, p. 395) discussed concerns over inadequate services to provide meaningful

employment opportunities for persons with Down syndrome. Tertiary prevention of health

problems can be improved with the help of occupational health nurses who advocate for

supportive legislation. Their experience in the working environment and their knowledge of the

productive capabilities of their clients may be articulated in testimonials to law makers. This role

in advocacy is supportive of tertiary prevention for persons with Down syndrome by helping

them obtain stimulating, healthful employment.

DOWN SYNDROME 26

Institutional nurse. Persons with Down syndrome may outlive parents who were their

primary caregivers; this often results in institutionalization (Coppus, 2006, p. 772). Hayes (2007,

p. 407) advised that an institutional nurse has a care provider role in seeing to these patients’

fundamental needs; they have propensities to certain diseases, and will age more rapidly than

others in general. The institutional nurse develops a holistic approach in planning for their care.

Such tertiary prevention care requires engaging both health care and social support members in

formulating plans, is founded on obtaining informed consent with due care, and employs careful

development of an accommodating communication method (Hayes, 2007, pp. 407-408).

An institutional nurse can play an important role as an educator of patients with Down

syndrome, of nurse peers within the institution, and of patients’ family members. Hayes (2007, p.

408) reported that the response to pain is different for persons with Down syndrome. Although

they are slower to communicate their pain, it is just as much present as for those with normal

abilities to feel and express pain; thus, treatment plans should always include pain relief for even

the simplest of procedures (Hayes, 2007, p. 408).

In an educator role, the institutional nurse can customize methods of teaching a patient

how to effectively communicate their perception of discomfort. Nurses can also translate the

context of their expressions to other care providers. Family members, who may know the patient

over a lifetime, can benefit from learning about the importance of receiving adequate pain relief

to prevent the deterioration of health. An institutional nurse in an educator role provides

education to others as an ongoing role in tertiary prevention for Down syndrome.

Another role of the institutional nurse is patient advocate. Ryan and Carey (2009, p. 24)

proposed that nurses develop specialized care plans for persons with Down syndrome who have

dementia. In one of the largest studies, Coppus et al. (2006, pp. 769, 772, 775) reported that
DOWN SYNDROME 27

greater than 60% of their sample population resided within institutional settings; also, that nearly

17% overall were diagnosed with dementia of which the majority were institutionalized. These

individuals with Down syndrome are especially in greater need of planned support which builds

on their limitations in communication, includes the participation of their community, and

conscientiously provides ways for them to make choices whenever possible (Ryan & Carey

2009, p. 25). The institutional nurse advocate, for persons with Down syndrome, must operate

carefully between beneficence and advocacy in order to support the tertiary prevention mainstays

of an individual’s autonomy and basic rights (Ryan & Carey, 2009, p. 28).

Proposal for Change

Although the underlying cause of Down syndrome is unknown, it is known that its

random occurrence strikes in similar numbers throughout the world. It is not a disease, and

therefore not curable. To some persons it is not a problem, but rather genetic variance. To others

it is a stigma that can shadow over lives, and in those situations it might take only a change of

view to overcome. The proposal for change follows 3 themes with an initial requisite of a change

in perception: acceptance advocacy, integration leadership, and information through education.

Movie stars travel across the globe and bring home an assortment of children, not born to

them, while the public is awed by their caring actions. Regarding acceptance advocacy, other

child adoption stories have been gaining newsworthy momentum as well. Adler (2005, p. 1)

wrote about people’s experiences in knowing a child with Down syndrome, and then seeking to

adopt one because of their special nature. An Ohio agency was reported to have a list of 150

applicants waiting to adopt Down syndrome children (Adler, 2005, p. 1). Martin (2009, p. 1)

reported a similar trend within the United Kingdom: parents are choosing not to terminate;

instead, they bring their babies with Down syndrome into a world they view as changing and
DOWN SYNDROME 28

accepting. A related documentary aired in 2008 on British television; online, Adler posted

peoples’ feelings about changing views; and the adoption article was printed in a Midwestern

newspaper (Martin, 2009, p. 1; Adler, 2005, p. 1). These incidents exemplify what acceptance

advocacy looks like, and how it can begin.

O’Donnell-Miller (2006, p. 9) described an older woman with Down syndrome who

become lethargic due to insufficient socialization and mediocre care. In demonstration of

integration leadership, a parish nurse assisted a family member to remove the woman from a

facility and into a home environment. The difference the change made to her health was

remarkable, as she lost excess weight and became involved in volunteer work (O'Donnell-Miller,

2006, p. 9). As they age, the health of persons with Down syndrome may easily decline.

Institutionalized clients, especially, may feel isolated and depressed for lack of meaningful

companionship, and social integration. Health professionals know that the family models try to

reintegrate family members. So too should dependent adults enjoy such an opportunity; to thrive

and be with family, related or otherwise. Nurse leaders can encourage others to think about

taking in someone with Down syndrome; or encourage a companionship role to someone who

could use reciprocal and meaningful stimulation. Integration leadership is proactive nursing that

supports positive changes for persons with Down syndrome.

Information through education is the final proposal for simple change. Health care

professionals and care givers can effect changes to the language used every day, in order to

promote acceptable standards that guide respect toward persons with Down syndrome. Hayes

(2007, p. 405) taught not to refer to persons with Down syndrome as “suffering;” noting its

offensive and baseless nature. However, the term 'Mongoloid' is the ultimate insult (Hayes, 2007,

p. 405). Their syndrome is merely descriptive of morphologies attributed to aneuploidy variation

DOWN SYNDROME 29

(Hayes, 2007, p. 405). Projecting pity onto someone is mostly an unhealthy form of relating to

another human, and persons with Down syndrome are foremost human. It is actually in their best

interest to be treated with the same respect as anyone else would appreciate receiving. Whenever

individuals have the opportunity, they can help to change the world for persons with Down

syndrome, one word at a time, by providing information through education.

Conclusion

In summary, Down syndrome is a chromosomal variance occurring during conception in

13 out of every 10,000 births across the world. It has a higher prevalence rate in pregnancies of

women 35 years of age and older. The syndrome causes intellectual impairment that is more

often mild to moderate; however, with age, the risks are higher for acquiring dementia because

of a specific genetic over expression. One solution in Down syndrome epidemiology is to

provide information to persons of all socioeconomic classes, ranging from prevailing risks to

choices afforded in prenatal sciences. Another solution is to provide individuals born with Down

syndrome, the same degree of health care services and stimulation that would be provided to

another infant in need. The probability is such that they will thrive amidst opportunity to

integrate into communities. That is because they can be sufficient, especially if they are shown

some degree of care and respect in being treated fairly; foremost as human beings.
DOWN SYNDROME 30

References

Adler, E. (2005). People are lining up to adopt Down syndrome babies. The Kansas City Star.

http://www.manitobadownsyndromesociety.com/People_Are_Lining_up_to_Adopt

_Down_Syndrome_Babies.pdf

Alderson, P. (2001). Down’s syndrome: Cost, quality and value of life. Social Science &

Medicine, 53, 627-638. Retrieved from http://www.elsevier.com/wps/find

/journaldescription.cws_home/315/description#description

Canham, M. (2009). Mormon portion of Utah population steadily shrinking. The Salt Lake

Tribune. Retrieved from http://www.sltrib.com/ci_2886596

Carr, J. (2008). The everyday life of adults with Down syndrome. Journal of Applied Research

In Intellectual Diabilities, 21(5), 389-397. Retrieved from http://www.wiley.com/bw

/journal.asp?ref=1360-2322&site=1

Caughy, A.B., Washington, A.E., Kuppermann, M. (2008). Perceived risk of prenatal diagnostic

procedure-related miscarriage and Down syndrome among pregnant women. American

Journal of Obstetrics & Gynecology, 198(3), 333.e1-8. doi:10.1016/j.ajog.2007.09.045

Centers for Disease Control & Prevention. (2009). Down syndrome. Retrieved from http://www

.cdc.gov/ncbddd/birthdefects/DownSyndrome.htm

Centers for Disease Control & Prevention. (1994). Down syndrome prevalence at birth: United

States, 1983-1990. Morbidity and Mortality Weekly Report, 43(33), 617-622. Retrieved

from http://www.cdc.gov/mmwr/preview/mmwrhtml/00032401.htm

Central Intelligence Agency. (2009a). The world fact book: North America United States.

Retrieved from https://www.cia.gov/library/publications/the-world-factbook/geos/us.html

DOWN SYNDROME 31

Central Intelligence Agency. (2009b). The world fact book: World. Retrieved from https://www

.cia.gov/library/publications/the-world-factbook/geos/xx.html

Connecticut Sexual Assault Crisis Services. (n.d.). Developmental disabilities & sexual assault.

Retrieved from http://www.connsacs.org/learn/documents/DisabilityandSexualAssault

-revisions.doc

Coppus, A., Evenhuis, H., Verberne, G.J., Visser, F., Van Gool, P., Eikelenboom, P., & van

Duijin, C. (2006). Dementia and mortality in persons with Down’s syndrome. Journal of

Intellectual Disability Research, 50(10), 768-77. doi:10.1111/j.1365-2788.2006.00842.x

Deaconess Parish Nurse Ministries. (2009). International Parish Nurse Resource Center.

Retrieved from http://www.parishnurses.org/Home_1.aspx

Down Syndrome Agencies. (2009). Results 1 - 10 of about 1,290,000 for Down syndrome

agencies. (0.12 seconds). Retrieved from http://www.google.com/search?hl=en&source

=hp&q=down+syndrome+agencies&aq=f&oq=&aqi=

Easter Seals. (n. d.). Serving young children and families. Retrieved from http://www.easterseals

.com/site/PageServer?pagename=ntl_focus_young_children

Education for Choice. (2005). Religion. Retrieved from http://www.efc.org.uk /Foryoungpeople

/Factsaboutabortion/Religion

Epigee Health and Fitness. (2009). Catholicism and family planning. Retrieved from http:/

/www.epigee.org/guide/catholicism.html

Forrester, M.B., & Merz, R.D. (2003). Residence, delivery and referral patterns of infants and

fetuses with birth defects delivered in Hawaii, 1986–1999. Public Health, 117(2), 128-

134. doi:10.1016/S0033-3506(02)00024-0
DOWN SYNDROME 32

Freeman, S.B, Allen, E.G., Oxford-Wright, C.L., Tinker, S.W., Druschel, C., Hobbs, C.A.,

…Sherman, S.L. (2007). The National Down Syndrome Project: Design and

implementation. Public Health Reports, 122(1), 62-72. Retrieved from http://www

.publichealthreports.org/archives/issuecontents.cfm?Volume=122&Issue=1

Gallup. (2009). Religious identity: States differ widely. Retrieved from http://www.gallup.com

/poll/122075/Religious-Identity-States-Differ-Widely.aspx

Global Security. (2006). Military: Religion. Retrieved from http://www.globalsecurity.org

/military/world/gulf/uae-religion.htm

Goodwill Industries of Hawaii. (n.d.). Services for adults with disabilities. Retrieved from http:

//www.higoodwill.org/programs-services/developmental_services//

Government of Ireland Office of the Attorney General. (n.d.). Irish statute book: Eighth

Amendment of the Constitution Act, 1983. Retrieved from http://www.irishstatutebook.ie

/1983/en/act/cam/0008/gen_1.html

Harcombe, J. (2007). Supporting midwives in screening. RCM Midwives, 10(1), 28-30. Retrieved

from http://www.rcm.org.uk/midwives/

Hartway, S. (2009). A parent’s guide to the genetics of Down syndrome. Advances in Neonatal

Care, 9(1), 27-30. doi:10.1097/01.ANC.0000346092.50981.c0

Hayes, C. (2007). Down syndrome: Caring holistically in primary health care. British Journal of

Community Nursing, 12(9), 404-410. Retrieved from http://www

.britishjournalofcommunitynursing.com

Healthy People 2010. (n.d.a). Disability and secondary conditions. Retrieved from http://www

.healthypeople.gov/document/HTML/Volume1/06Disability.htm
DOWN SYNDROME 33

Healthy People 2010. (n.d.b). Oral health. Retrieved from http://www.healthypeople.gov

/document/HTML/Volume2/21Oral.htm

Healthy People 2010. (n.d.c). What are its goals? Retrieved from http://www.healthypeople.gov

/About/goals.htm

International Clearinghouse for Birth Defects, Surveillance, and Research. (2007). Annual report

2007- with data for 2005. Retrieved from http://www.icbdsr.org/filebank/documents

/ar2005/Report2007.pdf

James, S.R., & Ashwill, J.W. (2007). Nursing care of children: Principles & practice. St. Louis,

MO: Saunders.

Khoshnood, B., De Vigan, C., Vodovar, V., Bréart, G., Goffinet, F., & Blondel, B. (2006).

Advances in medical technology and creation of disparities: The case of Down syndrome.

American Journal of Public Health, 96(12), 2139-2144. doi:10.2105/AJPH,2005,069377

Lowdermilk, D.L., & Perry, S.E. (2006). Maternity nursing. St. Louis, MO: Mosby.

March of Dimes. (2009). Down syndrome. Retrieved from http://www.marchofdimes.com

/professionals/14332_1214.asp

Maurer, F.A., & Smith, C.M. (2009). Community/public health nursing practice: Health for

families and populations. St. Louis, MO: Saunders.

Martin, D. (2009, October 29). More mothers are choosing to keep their babies when diagnosed

with Down’s syndrome. Mail Online. Retrieved from http://www.dailymail.co.uk/news

/article-1088774/More-mothers-choosing-babies-diagnosed-Downs-Syndrome.html

Mutton, D., Alberman, E., & Hook, E.B. (1996). Cytogenetic and epidemiological findings in

Down syndrome, England and Wales 1989 to 1993. Journal of Medical Genetics, 33,

387-394. doi:10.1136/jmg.33.5.387
DOWN SYNDROME 34

National Birth Defects Prevention Network. (2009). Birth defects state profile: Hawaii.

Retrieved from http://www.nbdpn.org/current/2009pdf/StateProfiles/HI_2009.pdf

National Down Syndrome Congress. (2009). Services. Retrieved from http://www.ndsccenter

.org /?page_id=43

National Down Syndrome Congress. (n.d.). Public service announcement: More alike. Retrieved

From http://www.ndsccenter.org/staging/?page_id=409

National Down Syndrome Society. (2009a). Down syndrome fact sheet. Retrieved from http:

//www.ndss.org/index.php?option=com_content&view=article&id=54&Itemid=74

National Down Syndrome Society. (2009b). NDSS quickfacts. Retrieved from http://www.ndss

.org/index.php?option=com_content&view=article&id=47&Itemid=67

National Down Syndrome Society. (2009c). Incidences and maternal age. Retrieved from http:

//www.ndss.org/index.php?option=com_content&view=article&id=61 &Itemid=78

National Institutes of Health. (2007). What is Down syndrome? Retrieved from http://www

.nichd.nih.gov/health/topics/Down_Syndrome.cfm

National Institutes of Health. (2008). Facts about Down syndrome. Retrieved from http://www

.nichd.nih.gov/publications/pubs/downsyndrome.cfm

O'Donnell-Miller, M. (2006). Parish nursing outcome: Lives intertwined. Parish Nurse

Perspectives, 5(4), 9. Retrieved from http://findarticles.com/p/articles/mi_m5PTX/

Office of Health Status Monitoring. (2009). Hawaii Health Survey. Retrieved from http://hawaii

.gov/health/statistics/hhs/hhs_08/hhs08t11.pdf

Ontario Consultants on Religious Tolerance. (2006). The LDS church and abortion. Retrieved

from http://www.religioustolerance.org/lds_abor.htm
DOWN SYNDROME 35

Protestant Church USA National Health Ministries. (n.d.). Health mission on the move.

Retrieved from http://www.pcusa.org/nationalhealth/parishnursing/insurance.htm#qa

Ranweiler, R. (2009). Assessment and care of the newborn with Down syndrome. Advances in

Neonatal Care, 9(1), 17-24. doi:10.1097/01.ANC.0000346090.05240.ab

Ryan, J., & Carey, E. (2009). Developing person-centred planning in dementia care. Learning

Disability Practice, 12(5), 24-28. Retrieved from http://www.nursing-standard.co.uk

/learningdisabilitypractice/

Supporting Exceptional Citizens of Hawaii. (2009). Our mission. Retrieved from http://www

.secoh.org/

Sherman, S.L., Lamb, N.E., & Feingold, E. (2006). Relationship of recombination patterns and

Maternal age among non-disjoined chromosomes 21. Biochemical Society Transactions

(34)4. Retrieved from

http://www.biochemsoctrans.org/bst/034/0578/bst0340578.htm

Skotko, B. (2005). Mothers of children with Down syndrome reflect on their postnatal support.

Pediatrics, 115(1), 64-77. doi:10.1542/peds.2004-0928

State of Hawaii Department of Health Office of Health Status Monitoring. (2009). Preliminary

vital statistics data: January to December 2008. Retrieved from http://hawaii.gov/health

/statistics/vital-statistics/vs_prelm/vs_pre08.html

United Nations. (n.d.). Population policy data bank: United Arab Emirates abortion policy.

Retrieved from http://www.un.org/esa/population/publications/abortion/doc/uae.doc

United Nations. (1999). The world at six billion. Retrieved from http://www.un.org/esa

/population /publications/sixbillion/sixbilpart1.pdf

U.S. Bureau of Labor Statistics. (n.d.). Data bases, tables & calculators by subject. Retrieved
DOWN SYNDROME 36

from http://www.bls.gov/data/inflation_calculator.htm

U.S. Census Bureau. (2009). International programs: World popclock projection. Retrieved

from http://www.census.gov/ipc/www/popclockworld.html

U.S. Conference of Catholic Bishops. (n.d.). Cultural diversity in the church: Hispanic affairs.

Retrieved from http://www.usccb.org/hispanicaffairs/demo.shtml

U.S. Environmental Protection Agency. (n.d.a). Chapter III.8: Cost of Down syndrome.

Retrieved from http://www.epa.gov/oppt/coi/pubs/III_8.pdf

U.S. Environmental Protection Agency. (n.d.b). Appendix A: Inflation and discounting factors.

Retrieved from http://www.epa.gov/oppt/coi/pubs/appa.pdf

U.S. Environmental Protection Agency. (2004). National Center for Environmental Assessment.

Retrieved from http://cfpub.epa.gov/ncea/cfm/recordisplay.cfm?deid=49073

Van Dyke, D.C., McBrien, D.M., & Sherbondy, A. (n.d.). Issues of sexuality in Down syndrome.

Retrieved from http://www.ds-health.com/issues.htm

Van Riper, M. (2007). Families of children with Down syndrome: Responding to “a change in

plans” with resilience. Journal of Pediatric Nursing, 22(2), 116-128. doi:10.1016/j.pedn .

2006.07.004

Veitch, J. (2004). Network is going strong ten years on. Learning Disability Practice, 10(4), 5.

Retrieved from http://www.nursing-standard.co.uk/learningdisabilitypractice/

Weijerman, M.E., van Furth, A.M., Vonk Noordegraaf, A., van Wouwe, J.P., Broers, C.J., &

Gemke, R.J. (2008). Prevalence, neonatal characteristics, and first-year mortality of

Down syndrome: A national study. Journal of Pediatrics, 152(1), 15-19. Retrieved from

http://www.jpeds.com/

World Health Organization. (2001). The role of the occupational health nurse in the workplace.
DOWN SYNDROME 37

Retrieved from http://www.who.int/occupational_health/regions/en/oeheurnursing.pdf

World Bank. (2004). Beyond economic growth 2004: 3-world population growth. Retrieved from

http://www.worldbank.org/depweb/english/beyond/beyondco/beg_03.pdf

YouthNet UK. (2009). TheSite.org: Abortion in Ireland. Retrieved from http://www.thesite.org

/sexandrelationships/safersex/unplannedpregnancy/abortioninireland
DOWN SYNDROME 38

Appendix A

Epidemiology Triangle for Down Syndrome

Host Factors
A human reproductive cell/gamete
Gamete of either sex: male or female
Female ova more often than male sperm
Random act during 1st meiotic stage
Short recombination at 21st chromosome
Germ cell retains extra chromosome
Subsequently mates with normal cell
Pregnancy over 35 years of age
Pregnancy in Down syndrome mother
Pregnancy post Down syndrome pregnancy
Male dominant offspring by 1:24 ratio

Agent Factors Environmental Factors

Unknown: primary agent of causation
Hypothetically: hormonal imbalance
Failed chromosomal separation
Random meiotic nondisjunction
Defective parental chromosome
Male or female agent relative
Fertilization with a trisomy 21 gamete
Human reproduction
High fertility rates under 35 years of age
Religious practice against abortion
Disenfranchised lacking prenatal care
Disenfranchised lacking information
Political impoverishment in research
Theory on more births when impoverished

Source of Model: Maurer, F.A., & Smith, C.M. (2009, p. 169).

Community/public health nursing practice: Health for families and populations.
St. Louis, MO: Saunders Elsevier.
DOWN SYNDROME 39

Appendix B

Incidences of Down Syndrome Birth Relevant to Maternal Age

Maternal Incidence of Down Maternal Incidence of Down

Age syndrome Age syndrome
20 1 in 2000 35 1 in 350
21 1 in 1700 36 1 in 300
22 1 in 1500 37 1 in 250
23 1 in 1400 38 1 in 200
24 1 in 1300 39 1 in 150
25 1 in 1200 40 1 in 100
26 1 in 1100 41 1 in 80
27 1 in 1050 42 1 in 70
28 1 in 1000 43 1 in 50
29 1 in 950 44 1 in 40
30 1 in 900 45 1 in 30
31 1 in 800 46 1 in 25
32 1 in 720 47 1 in 20
33 1 in 600 48 1 in 15
34 1 in 450 49 1 in 10

Source of Table:
National Down Syndrome Society. (2009c, p. 1).
Incidences and Maternal Age
Retrieved from:
http://www.ndss.org/index.php?option=com_content&view=article&id=61 &Itemid=78
DOWN SYNDROME 40

Appendix C

Down Syndrome Pregnancy Terminations: 2005

Source of Table:
International Clearinghouse for Birth Defects, Surveillance, and Research. (2007, Table 2, p. 10).
Annual report 2007- with data for 2005.
Retrieved from:
http://www.icbdsr.org/filebank/documents/ar2005/Report2007.pdf
DOWN SYNDROME 41

Appendix D

Advanced Age Pregnancy; Termination, Live, and Still Births: 2005

Source of Table:
International Clearinghouse for Birth Defects, Surveillance, and Research. (2007, Table 3, p. 10).
Annual report 2007- with data for 2005.
Retrieved from:
http://www.icbdsr.org/filebank/documents/ar2005/Report2007.pdf
DOWN SYNDROME 42

Appendix E

US 17 States Down Syndrome Births/Race: 1983-1990

Source of Graph:
Centers for Disease Control & Prevention. (1994).
Down syndrome prevalence at birth: United States, 1983-1990.
Morbidity and Mortality Weekly Report, 43(33), 617-622.
Retrieved from:
http://www.cdc.gov/mmwr/preview/mmwrhtml/00032401.htm
DOWN SYNDROME 43

Appendix F

Birth Defects State Profile

Source of table:
National Birth Defects Prevention Network. (2009).
Birth defects state profile: Hawaii.
Retrieved from:
http://www.nbdpn.org/current/2009pdf/StateProfiles/HI_2009.pdf
DOWN SYNDROME 44

Appendix G

Average Fertility Rates, Births per Woman, 1980 and 1999

Source of Graph:
World Bank. (2004, p. 20).
Beyond economic growth 2004: 3-world population growth.
Retrieved from:
http://www.worldbank.org/depweb/english/beyond/beyondco/beg_03.pdf
DOWN SYNDROME 45

Appendix H

National Community Resources

Primary Prevention

Clinical Trials
ClinicalTrials.gov: Down Syndrome (National Institutes of Health)
http://clinicaltrials.gov/search/open/condition=%22Down+Syndrome%22

Genetics
Genetics Home Reference: Down syndrome (National Library of Medicine)
http://ghr.nlm.nih.gov/condition=downsyndrome

Primary & Secondary Prevention

Infants
Down Syndrome and Your Unborn Baby(American Academy of Family Physicians)
http://familydoctor.org/online/famdocen/home/children/parents/special/birth/610.printerv
iew.html

Primary, Secondary, & Tertiary Prevention

A-Z information on Down syndrome with multiple links

Down Syndrome (National Institute of Child Health and Human Development)
http://www.nichd.nih.gov/health/topics/Down_Syndrome.cfm

Associations
National Association for Down Syndrome
Post Office Box 206 Wilmette, IL 60091
Tel: (630) 325-9112 E-mail: info@nads.org http://www.nads.org

The National Association for Down Syndrome (NADS) offers information, referrals, and
services for tertiary prevention in Down syndrome. They primarily service clients and
families in Chicago; however, their information media is available to persons
everywhere. The NADS education and support categories include expectant parents,
parent support programs, health care, early intervention, medical challenges, and family
support. They reported an expansion of services to meet the needs of Spanish speaking
clients. In conjunction with the Advocate Lutheran General Hospital they have
established a premier medical clinic, the Adult Down Syndrome Center, which cares for
adolescents and adults in a holistic view with an interdisciplinary team approach.

National Down Syndrome Society

666 Broadway New York, NY 10012
Tel: (800) 221-4602 or (212) 460-9330 Fax: (212) 979-2873
DOWN SYNDROME 46

E-mail: info@ndss.org http://www.ndss.org

National Down Syndrome Congress

1370 Center Drive, Suite 102 Atlanta, GA 30338
Tel: (800) 232-6372 (NDSC) or (770) 604-9500 Fax: (770) 604-9898
E-mail: info@ndsccenter.org http://www.ndsccenter.org

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue White Plains, NY 10605
Tel: (914) 997-4488 http://www.modimes.org
Insurance
Free Medicare Prescription Drug Plan information:
The Access to Benefits Coalition and The National Council on the Aging
BenefitsCheckUpRx for People with Medicare: http://www.benefitscheckuprx.org
This Web-based service has been enhanced to help anyone with Medicare
It indicates if eligible for extra help available to people with limited means
Helps people take the next step: enrollment in a Medicare Prescription Drug Plan

Tertiary Prevention

Children
Down Syndrome: Elementary & Secondary Education(National Down Syndrome
Society) - http://www.ndss.org/index.php?
option=com_content&view=article&id=58:elementary-a-secondary-
education&catid=37:education-development-a-community-life&Itemid=83

Teenagers
Transition Planning (National Down Syndrome Society) http://www.ndss.org/index.php?
option=com_content&view=article&id=129:transition-planning&catid=50:transition-a-
adulthood&Itemid=141

Adults
Down Syndrome in Adults: Staying Healthy(American Academy of Family Physicians)-
http://familydoctor.org/online/famdocen/home/articles/716.printerview.html

Adults, older
Alzheimer's Disease and Down Syndrome(National Down Syndrome Society)
http://www.ndss.org/index.php?option=com_content&view=article&id=180:alzheimers-
and-down-syndrome&catid=60:associated-conditions&Itemid=88

OVERVIEW
Down Syndrome (Centers for Disease Control and Prevention) -
http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.htm
Down Syndrome (March of Dimes Birth Defects Foundation) -
http://www.marchofdimes.com/professionals/14332_1214.asp
Down Syndrome Mayo Foundation for Medical Education and Research) -
http://www.mayoclinic.com/health/down-syndrome/DS00182/METHOD=print
DOWN SYNDROME 47

Facts about Down Syndrome (National Institute of Child Health and Human Development)
-http://www.nichd.nih.gov/publications/pubs/downsyndrome.cfm

Appendix I

State/Local Community Resources

Primary Prevention

Kapiolani Medical Center: Women's OB/GYN Outpatient Clinic

http://www.kapiolani.org/women-and-children/health-services-for-women/womens-obgyn-
outpatient-clinic.aspx
Pre-pregnancy counseling: medical, dietary and social service counseling
Pregnancy testing
Prenatal Care: initial evaluation, high-risk screening, routine and high-risk prenatal
care, counseling, education, and postpartum follow-up care
Referral services including genetic counseling and fetal diagnostic services

Primary, Secondary, & Tertiary Prevention

Hawaii Down Syndrome Congress

We are Parent Support Group that promotes public awareness with a membership of
approximately 155 families and 26 professionals.

Hawaii Down Syndrome Congress

419 Keoniana St
Honolulu, Hi 96815

Constance K. Smith - President

Phone: (808) 949-1999
email Conkay@AOL.com

I.D.E.A.S. Information on Disability for Empowerment, Advocacy, and Support

Emergency Telephone Resources

State Emergency Response & Preparedness
Homelessness, and food bank resources
State Services - education, employment, housing, medical, food, senior, and financial
Disability Resources including ADA, ARCs, Arthritis/Skeletal & Skin, Assistive
Technology, Autism, Blindness, Brain & Spinal Injury, Centers for Independent Living,
Cerebral Palsy, Deafness, Developmental Disability, Down syndrome, Easter Seals,
Learning Disability, Legal Help, Mental Health, Neurological, Parenting, Recreation &
Arts, and more.

This is the I.D.E.A.S. URL that connects you to most of life’s needs in Hawaii
DOWN SYNDROME 48

http://www.katrinadisability.info/Hawaii.html

Secondary & Tertiary Prevention

Hawaii Easter Seals

Providing Services for People with Disabilities and Their Families
Infants, children, adults and seniors with developmental disabilities and special needs
find the highest-quality services designed to meet their individual needs when they come
to Easter Seals Hawai’i. Therapists, teachers, care coordinators, social workers, direct
support workers, and other health and human service professionals provide
opportunities to help each person overcome challenges to independence and reach his or
her personal goals. We believe an integral part of this process involves families,
guardians and caregivers as active members of any participant’s circle of friends and
support.
http://hawaii.easterseals.com/site/PageServer?pagename=HIDR_homepage

Tertiary Prevention

The Arc in Hawaii

Aloha and welcome to The Arc in Hawaii. As the state chapter of The Arc of the US
The Arc in Hawaii is part of the largest national organization devoted solely to working
on behalf of people with intellectual disabilities.
The Arc in Hawaii is committed to helping Hawaii's people with intellectual disabilities
secure the power to choose where and how they live, learn, work and play.

3989 Diamond Head Road

Honolulu, HI 96816 (808) 737-7995 (808) 732-9531 fax
http://www.thearcinhawaii.org/

SECOH serving exceptional citizens of Hawaii

708 Palekaua St.
Honolulu, HI 96816-4755
Phone (808) 734-0233 Fax (808) 734-0391 http://www.secoh.org/

Goodwill Industries of Hawaii, Inc.

It is Goodwill's policy to respond to all requests for information.

Mailing Address:
2610 Kilihau Street
Honolulu, HI 96819-2020
Telephone: 808-836-0313 TTY: 808-550-0382 FAX: 808-833-4943
Contact Information
If you would like to contact us, our administrative office hours are Monday through
Friday from 7:30 a.m. - 4:00 p.m., Hawaii Standard Time.
DOWN SYNDROME 49

http://www.higoodwill.org/about/contact.php
E-Mail: info@higoodwill.org
URL: http://www.higoodwill.org/