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Report to Congressional Committees: 

United States Government Accountability Office:
GAO: 

October 2010: 

Children With Down Syndrome: 

Families Are More Likely to Receive Resources at Time of Diagnosis 
Than in Early Childhood: 

GAO-11-57: 

GAO Highlights: 

Highlights of GAO-11-57, a report to congressional committees. 

Why GAO Did This Study: 

On October 8, 2008, the Prenatally and Postnatally Diagnosed 
Conditions Awareness Act was signed into law, requiring GAO to submit 
a report concerning the effectiveness of current health care and 
family support programs for the families of children with 
disabilities. In this report, GAO focused on Down syndrome because it 
is a medical condition that is associated with disabilities and occurs 
frequently enough to yield a sufficient population size for an 
analysis. 

GAO examined (1) what is known about the extent to which children with 
Down syndrome receive medical care during early childhood and 
(2) what resources families of children with Down syndrome receive 
through their health care providers and what barriers families face to 
using these resources. 

GAO analyzed fee-for-service claims data from a very large private 
health insurance company, for the claims representing its experience 
with one of the largest national employers, and Medicaid claims data 
from seven states with high Medicaid enrollment and low percentages of 
enrollees in Medicaid managed care. GAO also interviewed specialists 
at six prominent Down syndrome clinics and 12 advocacy groups to 
examine what resources families receive and to identify barriers they 
face. GAO also analyzed data from the Health Resources and Services 
Administration–sponsored 2005-2006 National Survey of Children with 
Special Health Care Needs on barriers to accessing needed services. 

What GAO Found: 

GAO’s analysis of data from a very large private health insurance 
company showed that from birth through early childhood, children with 
Down syndrome received medical care to address their special health 
care needs. Specifically, children with Down syndrome received, on 
average, five times more outpatient care (such as care in an urgent 
care facility) and over two times more office-based care (such as care 
in a physician’s office) than children without Down syndrome. Overall, 
both groups received more office-based care than outpatient care. A 
key difference in the amount of care received by children with Down 
syndrome was the difference in the amount of therapy services, with a 
greater percentage of children with Down syndrome receiving physical, 
occupational, and speech therapy. In addition, children with Down 
syndrome have an increased risk of certain medical conditions and were 
hospitalized, on average, nearly twice as often and stayed twice as 
long as other children. Not surprisingly, differences were also found 
in medical care expenditures. The total average medical expenditures 
for children with Down syndrome were an average of five times higher 
than those for other children. However, both total expenditures and 
the difference in expenditures decreased substantially as the two 
groups of children reached 3 years of age. GAO’s analysis of Medicaid 
claims data found similar differences between the two groups. 

Down syndrome advocacy groups in selected communities told GAO that 
families of children with Down syndrome in those communities were more 
likely to receive the resources recommended for the time of diagnosis 
than those recommended for early childhood and may face barriers to 
using available resources. Specifically, advocacy groups reported that 
families were likely to receive about two-thirds (20 of 32) of the 
resources that specialists at the six Down syndrome clinics 
recommended they receive through their health care providers at the 
time of diagnosis. However, families were likely to receive only about 
one-quarter (6 of 23) of the resources that specialists recommended 
they receive through their health care providers after diagnosis and 
throughout early childhood. In addition, advocacy groups and results 
from the National Survey of Children with Special Health Care Needs 
indicate that families may face barriers that can prevent them from 
using available resources. For example, barriers such as outdated or 
inaccurate information could lead parents to underestimate their child’
s potential. Some advocacy groups reported that they and their 
communities have made efforts to address some of these barriers. For 
example, to address issues of inaccurate information, one advocacy 
group initiated an educational outreach program to health care 
professionals at area hospitals. 

GAO provided a draft of this report to the Department of Health and 
Human Services for comment. It generally agreed with GAO’s findings 
and noted that the report provides a thorough summary of the current 
practices and the successes and challenges faced by children with Down 
syndrome and their families. 

View [hyperlink, http://www.gao.gov/products/GAO-11-57] or key 
components. For more information, contact Cynthia A. Bascetta at (202) 
512-7114 or bascettac@gao.gov. 

[End of section] 

Contents: 

Letter: 

Background: 

Children with Down Syndrome Received Medical Care to Address Special 
Health Care Needs: 

Families Were More Likely to Receive the Resources Recommended for 
Time of Diagnosis Than Those Recommended for Early Childhood, and May 
Face Barriers to Using Available Resources: 

Agency Comments: 

Appendix I: Medicaid Data: 

Appendix II: Comments from the Department of Health and Human Services: 

Appendix III: GAO Contact and Staff Acknowledgments: 

Tables: 

Table 1: Occurrence of Other Medical Conditions among Children with 
Down Syndrome: 

Table 2: Resources That Specialists from Six Down Syndrome Clinics 
Recommended Families Receive Immediately upon Diagnosis, Likelihood of 
Receipt, and Consequences If Not Received: 

Table 3: Resources Important to the Ongoing Health of the Child That 
Specialists from Six Down Syndrome Clinics Recommended Families 
Receive for Early Childhood, Likelihood of Receipt, and Consequences 
If Not Received: 

Table 4: Barriers Commonly Cited by Advocacy Groups in Selected 
Communities: 

Figures: 

Figure 1: Average Number of Outpatient and Office-Based Services 
Received by Children in Our Review, by Age: 

Figure 2: Average Number of Outpatient and Office-Based Services 
Received by Children in Our Review from Birth through Age 4, by 
Service Type: 

Figure 3: Percentage of Children in Our Review Using Therapy Services, 
by Age and Therapy Type: 

Figure 4: Average Number of Hospitalizations of Children in Our 
Review, by Age: 

Figure 5: Average Length of Hospital Stay of Children in Our Review, 
by Age: 

Figure 6: Average Expenditures for Outpatient, Office-Based, and 
Inpatient Services for Children in Our Review, by Age: 

Figure 7: Average Number of Medicaid Outpatient and Office-Based 
Services for Children from Birth through Age 4, by State, 2007: 

Figure 8: Average Number of Medicaid Hospitalizations for Children 
from Birth through Age 4, by State, 2007: 

Figure 9: Average Length of Medicaid Hospital Stay for Children from 
Birth through Age 4, by State, 2007: 

Figure 10: Average Medicaid Expenditures for Office-Based, Outpatient, 
and Inpatient Services for Children from Birth through Age 4, by 
State, 2007: 

Abbreviations: 

AAP: American Academy of Pediatrics: 

ACMG: American College of Medical Genetics: 

ACOG: American Congress of Obstetricians and Gynecologists: 

DRG: diagnosis-related group: 

DSMIG: Down Syndrome Medical Interest Group: 

HHS: Department of Health and Human Services: 

HRSA: Health Resources and Services Administration: 

NDSC: National Down Syndrome Congress: 

NDSS: National Down Syndrome Society: 

NS-CSHCN: National Survey of Children with Special Health Care Needs: 

NSGC: National Society of Genetic Counselors: 

[End of section] 

United States Government Accountability Office:
Washington, DC 20548: 

October 8, 2010: 

The Honorable Tom Harkin: 
Chairman: 
The Honorable Michael B. Enzi: 
Ranking Member: 
Committee on Health, Education, Labor, and Pensions: 
United States Senate: 

The Honorable Henry A. Waxman: 
Chairman: 
The Honorable Joe Barton: 
Ranking Member: 
Committee on Energy and Commerce: 
House of Representatives: 

Families of children who have disabilities, such as children with Down 
syndrome, may not always receive the resources necessary to address 
their children's special health care needs. Down syndrome is a 
chromosomal condition that is associated with a set of cognitive and 
physical symptoms, and each year an estimated 1 in 733 babies is born 
with the condition in the United States.[Footnote 1] Because of an 
increased risk of certain medical conditions, such as congenital heart 
defects, gastrointestinal problems, and thyroid disease, children with 
Down syndrome need timely medical care. According to advocates and 
Down syndrome specialists, early identification and treatment of 
health issues result in better health and increased capabilities for 
these children. In addition, families of children who have 
disabilities, such as children with Down syndrome, need certain 
resources--including information, programs, and referrals for 
specialty medical care--at the time of diagnosis and as their child 
ages so they can effectively work with their child's health care 
provider to identify and treat medical conditions early. However, 
research indicates that not all families get the help they need. For 
example, researchers have consistently found that families reported 
both a lack of support and a lack of accurate information from their 
physicians at the time of diagnosis and as the child ages.[Footnote 2] 

On October 8, 2008, the Prenatally and Postnatally Diagnosed 
Conditions Awareness Act was signed into law to increase the provision 
of scientifically sound information and support services to patients 
receiving a positive test diagnosis for Down syndrome or other 
prenatally and postnatally diagnosed conditions.[Footnote 3] This act 
required GAO to submit a report concerning the effectiveness of 
current health care and family support programs for the families of 
children with disabilities. In this report, we focused on Down 
syndrome because it is the most commonly occurring chromosomal 
condition at birth and, therefore, occurs frequently enough to yield a 
sufficient population size for an analysis. Moreover, physicians with 
experience treating children with Down syndrome and children who have 
other disabilities reported that many of the health care issues and 
experiences faced by families of children with Down syndrome are 
similar to those faced by families of children who have other 
disabilities. In this report, we examined (1) what is known about the 
extent to which children diagnosed with Down syndrome receive medical 
care during early childhood and (2) what resources families of 
children with Down syndrome receive through their health care 
providers and what barriers families face to using these resources. 

To determine what is known about the extent to which children 
diagnosed with Down syndrome receive medical care during early 
childhood,[Footnote 4] we analyzed fee-for-service claims data from a 
very large private health insurance company for the claims 
representing its experience with one of the largest national 
employers. We also analyzed Medicaid fee-for-service claims data from 
seven states.[Footnote 5] We obtained the most recent full years of 
claims data available from each source. From the private health 
insurance company, we received nationwide claims data from 2001 
through 2008, and from Medicaid, we received claims data from seven 
states for 2007.[Footnote 6] To select the seven states, we chose 
states with high Medicaid enrollment and low percentages of enrollees 
in Medicaid managed care; in 2006, the seven states accounted for over 
40 percent of all Medicaid enrollees nationwide. For each 1-year 
period from birth through age 4, we analyzed claims data for children 
with Down syndrome[Footnote 7] who were enrolled in the private health 
insurance company or Medicaid for at least 11 months of that period. 
[Footnote 8] Specifically, we analyzed data on claims for outpatient, 
inpatient, and office-based care[Footnote 9] to describe the medical 
care received by children with Down syndrome during early childhood 
and corresponding health care expenditures. To provide a point of 
reference, we analyzed similar data for children without Down 
syndrome.[Footnote 10] The results of these analyses are not 
generalizable to all children with or without Down syndrome. We 
discussed the reliability of these data sources with knowledgeable 
officials and performed data reliability checks, such as examining the 
data for missing values and obvious errors, to test the internal 
consistency and reliability of the data. After taking these steps, we 
determined that the data were sufficiently reliable for our purposes. 

To determine what resources families of children with Down syndrome 
receive through their health care providers and what barriers families 
face to using these resources, we conducted a series of interviews 
with national Down syndrome organizations and national disability 
organizations, specialists at Down syndrome clinics,[Footnote 11] and 
Down syndrome advocacy groups.[Footnote 12] Specifically, we 
interviewed 10 national Down syndrome organizations and national 
disability organizations and asked them to identify prominent Down 
syndrome clinics known for their expertise in treating children with 
Down syndrome. From these 10 interviews, we selected the six most 
commonly cited Down syndrome clinics[Footnote 13] and asked 
specialists at each of these clinics to recommend the resources 
families should receive through their health care providers both at 
diagnosis and through early childhood.[Footnote 14] We then selected 
12 Down syndrome advocacy groups, representing six communities across 
the country, each of which was located in the same state as one of the 
six Down syndrome clinics. We asked the Down syndrome advocacy groups 
to review the list of resources that the specialists recommended and 
comment on whether families in their communities were likely to have 
received those resources through their health care providers. We also 
asked the Down syndrome advocacy groups to identify barriers families 
face to using the resources in their communities. The results of these 
interviews cannot be generalized to all Down syndrome clinics, all 
Down syndrome advocacy groups, or all families of children with Down 
syndrome. 

To supplement our work, we obtained information from the National 
Survey of Children with Special Health Care Needs (NS-CSHCN), 2005- 
2006, which is sponsored by the Health Resources and Services 
Administration (HRSA).[Footnote 15] Specifically, we obtained the most 
recent data available on issues such as access to health care, impact 
of special health care needs on the family, and barriers to accessing 
needed services. We analyzed survey data for families of children with 
Down syndrome from birth through age 17.[Footnote 16] The survey was 
designed to be representative of the entire U.S. population.[Footnote 
17] We reviewed relevant data reliability materials and performed data 
reliability checks, such as examining the data for missing values and 
obvious errors, to test the internal consistency and reliability of 
the data. After taking these steps, we determined that the data were 
sufficiently reliable for our purposes. 

We conducted this performance audit from November 2009 to October 2010 
in accordance with generally accepted government auditing standards. 
Those standards require that we plan and perform the audit to obtain 
sufficient, appropriate evidence to provide a reasonable basis for our 
findings and conclusions based on our audit objectives. We believe 
that the evidence obtained provides a reasonable basis for our 
findings and conclusions based on our audit objectives. 

Background: 

Overview of Down Syndrome: 

Down syndrome is most frequently caused by a chromosomal error that 
produces an extra copy of chromosome 21.[Footnote 18] The extra 
chromosomal material causes children with Down syndrome to have mental 
[Footnote 19] and physical differences and a greater risk of 
developing certain medical problems, such as hearing loss, eye 
disease, and congenital heart defects. (See table 1.) Because of this 
heightened risk, the American Academy of Pediatrics recommends that 
children with Down syndrome be closely screened throughout childhood 
for certain medical conditions. 

Table 1: Occurrence of Other Medical Conditions among Children with 
Down Syndrome: 

Medical condition: Hearing loss; 
Percentage of children with Down syndrome who have condition: 75%. 

Medical condition: Eye disease; 
Percentage of children with Down syndrome who have condition: 60%. 

Medical condition: Congenital heart defects; 
Percentage of children with Down syndrome who have condition: 50%. 

Medical condition: Otitis media[A]; 
Percentage of children with Down syndrome who have condition: 50-70%. 

Medical condition: Obstructive sleep apnea; 
Percentage of children with Down syndrome who have condition: 50-75%. 

Medical condition: Thyroid disease; 
Percentage of children with Down syndrome who have condition: 15%. 

Medical condition: Gastrointestinal atresias[B]; 
Percentage of children with Down syndrome who have condition: 12%. 

Medical condition: Acquired hip dislocation; 
Percentage of children with Down syndrome who have condition: 6%. 

Medical condition: Leukemia; 
Percentage of children with Down syndrome who have condition: less 
than 1%. 

Medical condition: Hirschsprung disease[C]; 
Percentage of children with Down syndrome who have condition: less 
than 1%. 

Source: GAO analysis of American Academy of Pediatrics data in Health 
Supervision for Children with Down Syndrome (February 2001). 

Note: Children with Down syndrome have a higher risk for developing 
these medical conditions than children without Down syndrome. 

[A] Otitis media is an infection or inflammation of the middle ear. 

[B] A gastrointestinal atresia is a complete blockage or obstruction 
in the gastrointestinal tract. 

[C] Hirschsprung disease is a blockage of the large intestine caused 
by improper muscle movement in the bowel. 

[End of table] 

Families of Children with Down Syndrome: 

The overall well-being of some families of children with Down syndrome 
can be affected by the special needs that their children may have. 
Research shows that these families experience more stress than 
families of typically developing children.[Footnote 20] In addition, 
according to the NS-CSHCN, 21 percent of families of children from 
birth through age 17 with Down syndrome in the United States needed 
mental health care or family counseling in the previous year, and 26 
percent experienced financial problems as a result of their child's 
health care issues.[Footnote 21] Research shows that families can 
benefit from family support resources, such as parent support groups 
where information and stories can be informally exchanged. In fact, 
connecting a new parent to other parents, such as through a parent 
support group, has been shown to be among the most helpful resources a 
physician can provide during the first conversation.[Footnote 22] 

Research has shown that families of children with Down syndrome do not 
receive enough accurate information and emotional support at the time 
of diagnosis and as the child ages.[Footnote 23] A 2005 study that 
surveyed 985 mothers who received a postnatal diagnosis of Down 
syndrome for their children indicated that when they learned of their 
child's diagnosis their physicians had not provided them with a 
satisfactory amount of up-to-date printed materials or telephone 
numbers of parents who already had a child with Down 
syndrome.[Footnote 24] Another study found that families received some 
information from health care providers that they perceived as vague, 
inaccurate, or outdated.[Footnote 25] Although there are studies such 
as these and other initiatives[Footnote 26] that focus on the first 
conversation between the health care provider and the family, there is 
very little research addressing subsequent conversations between the 
health care provider and the family as the child ages. 

Down Syndrome Clinics, Programs, and Advocacy Groups: 

Down syndrome clinics, which are usually located in larger cities 
across the United States, are a source of specialty medical care for 
children with Down syndrome.[Footnote 27] Pediatricians and family 
physicians vary widely in terms of their experience treating children 
with Down syndrome and refer patients to Down syndrome clinics as 
needed. The Down syndrome clinics are typically associated with 
medical schools or large hospitals and may include geneticists, 
developmental pediatricians, therapists, nutritionists, nurse 
practitioners, and genetic counselors. Families may visit these 
clinics on an annual basis to assess their child's development and to 
ensure that any health conditions have been properly diagnosed. 
[Footnote 28] Families of children with multiple medical problems may 
visit these clinics more frequently to ensure that their child is 
receiving appropriate specialty care. In addition to caring for 
children, these clinics also support families by, for example, 
providing information about Down syndrome and referring families to 
community resources. 

Pediatricians may also recommend that children with Down syndrome be 
referred to early intervention programs in their area. Children with 
Down syndrome qualify for early intervention services--which are 
generally administered by state-level agencies--beginning at birth and 
continuing until the age of 3.[Footnote 29] The Individuals with 
Disabilities Education Act Part C program was created to provide 
infants and toddlers who have disabilities (or are at risk of 
developing a disability) and their families with early intervention 
services, such as speech therapy, occupational therapy, and family 
counseling.[Footnote 30] We previously reported on research that found 
that the earlier a child with disabilities receives early intervention 
services, the more effective these services may be in enhancing the 
child's development.[Footnote 31] Parents may be referred to early 
intervention programs by their child's doctor, or they may seek out 
these services themselves. 

There is also a widespread network of advocacy groups to support 
children with Down syndrome and their families. In addition to 
numerous national disability organizations, there are two national 
Down syndrome-specific organizations with over 300 local advocacy 
groups located across the country. They range in size from small 
parent support groups to larger organizations that provide services to 
families and their children. Advocacy groups support children with 
Down syndrome and their families by, for example, organizing 
activities for children, serving as information resources, and 
offering parent support groups. 

Children with Down Syndrome Received Medical Care to Address Special 
Health Care Needs: 

Children with Down Syndrome Received More Outpatient and Office-Based 
Care Than Other Children, with Number of Therapy Services a Key 
Difference: 

From birth through early childhood, children with Down syndrome 
received, on average, five times more outpatient care and over two 
times more office-based care than children without Down syndrome, 
[Footnote 32] according to our analysis of data from a private health 
insurance company.[Footnote 33] For children under 1 year of age, 
[Footnote 34] the average number of outpatient services was 10.4 for 
children with Down syndrome and 1.9 for children without. Similarly, 
the average number of office-based services for children under 1 year 
of age was 20.0 for children with Down syndrome and 10.7 for children 
without. As children with and without Down syndrome moved through 
early childhood, both groups received more office-based services than 
outpatient services.[Footnote 35] However, while the amounts of 
outpatient and office-based services decreased over time, the 
differences in the amounts of outpatient and office-based services 
between the two groups remained. (See figure 1.) 

Figure 1: Average Number of Outpatient and Office-Based Services 
Received by Children in Our Review, by Age: 

[Refer to PDF for image: vertical bar graph] 

Average number of services: 

Age: Under 1 year: Outpatient; 
Children with Down syndrome: 10.4; 
Children without Down syndrome: 1.9. 

Age: Under 1 year: Office-based; 
Children with Down syndrome: 20; 
Children without Down syndrome: 10.7. 

Age: 1 year: Outpatient; 
Children with Down syndrome: 8.9; 
Children without Down syndrome: 1.8. 

Age: 1 year: Office-based; 
Children with Down syndrome: 18.7; 
Children without Down syndrome: 8.2. 

Age: 2 years: Outpatient; 
Children with Down syndrome: 7.8; 
Children without Down syndrome: 1.5. 

Age: 2 years: Office-based; 
Children with Down syndrome: 16.3; 
Children without Down syndrome: 5.6. 

Age: 3 years: Outpatient; 
Children with Down syndrome: 6.2; 
Children without Down syndrome: 1.3. 

Age: 3 years: Office-based; 
Children with Down syndrome: 14.6; 
Children without Down syndrome: 5.3. 

Age: 4 years: Outpatient; 
Children with Down syndrome: 5.8; 
Children without Down syndrome: 1.2. 

Age: 4 years: Office-based; 
Children with Down syndrome: 14.3; 
Children without Down syndrome: 5.6. 

Source: GAO analysis of 2001 through 2008 data from a private health 
insurance company for the claims representing its experience with one 
of the largest national employers. 

Notes: Outpatient care includes services received in facilities such 
as urgent care facilities, ambulatory surgical centers, and hospital 
emergency rooms. Office-based care includes services received in 
facilities such as physician offices, community health clinics, and 
school-based health clinics. Some services, such as therapy, can be 
provided in different types of facilities. For this analysis, we 
classified each service as outpatient care or office-based care based 
on the type of facility in which it was provided. The age ranges in 
our analysis are constructed so that, for example, "under 1 year" 
includes all children from birth up to but not including their first 
birthday, and so on, with each range consisting of 1 full year. 

[End of figure] 

Across all types of services, children with Down syndrome from birth 
through age 4 received more outpatient and office-based services than 
children without. (See figure 2.) For example, for both outpatient and 
office-based services, children with Down syndrome had more evaluation 
and management services,[Footnote 36] more medical procedure services, 
and more therapy services. Specifically, for outpatient services, 
children with Down syndrome had 3 times more evaluation and management 
services, 10 times more medical procedure services, and 22 times more 
therapy services than children without. For office-based services, 
children with Down syndrome had 2 times more evaluation and management 
services, 2 times more medical procedure services, and 25 times more 
office-based therapy services than children without. In addition, 
children with Down syndrome had 6 times more outpatient anesthesiology 
and surgery services than children without.[Footnote 37] 

Figure 2: Average Number of Outpatient and Office-Based Services 
Received by Children in Our Review from Birth through Age 4, by 
Service Type: 

[Refer to PDF for image: stacked vertical bar graph] 

Average services per year: 

Average office-based: Down syndrome; 
Anesthesiology and Surgery[A]; 2.8; 
Evaluation and Management[B]; 51.4; 
Medical procedures[C]; 48.2; 
Radiology, pathology, and laboratory[D]; 10.7; 
Therapy[E]; 45.2; 
Other[F]: 7.6. 	 

Average office-based: No Down syndrome; 
Anesthesiology and Surgery[A]; 1.3; 
Evaluation and Management[B]; 29.2; 
Medical procedures[C]; 29.9; 
Radiology, pathology, and laboratory[D]; 6.1; 
Therapy[E]; 1.8; 
Other[F]: 5.2. 

Average outpatient: Down syndrome; 
Anesthesiology and Surgery[A]; 21.7; 
Evaluation and Management[B]; 9.8; 
Medical procedures[C]; 17; 
Radiology, pathology, and laboratory[D]; 27.1; 
Therapy[E]; 18.2; 
Other[F]: 4. 

Average outpatient: No Down syndrome; 
Anesthesiology and Surgery[A]; 3.8; 
Evaluation and Management[B]; 3.5; 
Medical procedures[C]; 1.6; 
Radiology, pathology, and laboratory[D]; 6; 
Therapy[E]; 0.8; 
Other[F]: 0.7. 

Source: GAO analysis of 2001 through 2008 data from a private health 
insurance company for the claims representing its experience with one 
of the largest national employers. 

Notes: Outpatient care includes services received in facilities such 
as urgent care facilities, ambulatory surgical centers, and hospital 
emergency rooms. Office-based care includes services received in 
facilities such as physician offices, community health clinics, and 
school-based health clinics. Some services, such as therapy, can be 
provided in different types of facilities. For this analysis, we 
classified each service as outpatient care or office-based care based 
on the type of facility in which it was provided. 

[A] Anesthesiology and surgery includes services such as ear drum 
openings and wound repairs. 

[B] Evaluation and management includes services such as office, 
outpatient, and emergency department visits. 

[C] Medical procedures includes services such as vaccinations, hearing 
tests, and cardiac tests. 

[D] Radiology, pathology, and laboratory includes services such as 
thyroid tests and chest X-rays. 

[E] Therapy includes services such as physical, occupational, and 
speech therapy. 

[F] Other includes services such as dental services that are not 
captured in the other categories. 

[End of figure] 

We found other differences within the types of services received, such 
as greater percentages of children with Down syndrome receiving 
services such as thyroid, cardiac, and hearing tests than other 
children. For example, our review of the outpatient services found 
that 21 percent of children with Down syndrome under 1 year of age had 
a specific thyroid function test, compared to 1 percent of other 
children of the same age.[Footnote 38] In addition, children with Down 
syndrome were more likely than other children to receive an influenza 
vaccination; for example, 30 percent of 4-year-olds with Down syndrome 
received the influenza vaccine, compared to 15 percent of other 
children of the same age. 

A key difference in the amount of outpatient and office-based care 
received by children with Down syndrome and other children was the 
difference in the amount of therapy services received. Our analysis of 
therapy usage showed that the percentage of children with Down 
syndrome who received physical, occupational, and speech therapy-
-therapies that Down syndrome specialists say are important for 
children with Down syndrome to receive to maximize their development-- 
was much higher than it was for other children.[Footnote 39] For 
example, 50 percent of children with Down syndrome, birth through age 
4, received physical therapy services, compared to 3 percent of other 
children. This represented an average of 30 physical therapy claims 
per child with Down syndrome, compared to an average of less than 1 
physical therapy claim per child without. This difference in the 
amount of children who received therapy services was evident in each 
age group and for each therapy type. (See figure 3.) 

Figure 3: Percentage of Children in Our Review Using Therapy Services, 
by Age and Therapy Type: 

[Refer to PDF for image: vertical bar graph] 

Percentage of children using therapy services: 

Age: Under 1 year: Down syndrome; 
Physical therapy: 45.3%; 
Occupational therapy: 28%; 
Speech therapy: 23%. 

Age: Under 1 year: No Down syndrome; 
Physical therapy: 2.1%; 
Occupational therapy: 0.9%; 
Speech therapy: 0.6%. 

Age: 1 year: Down syndrome; 
Physical therapy: 48.3%; 
Occupational therapy: 31.3%; 
Speech therapy: 39.4%. 

Age: 1 year: No Down syndrome; 
Physical therapy: 1.7%; 
Occupational therapy: 0.9%; 
Speech therapy: 1.4%. 

Age: 2 year: Down syndrome; 
Physical therapy: 45.2%; 
Occupational therapy: 31.3%; 
Speech therapy: 49.5%. 

Age: 2 year: No Down syndrome; 
Physical therapy: 1.3%; 
Occupational therapy: 1%; 
Speech therapy: 2.7%. 

Age: 3 year: Down syndrome; 
Physical therapy: 31.1%; 
Occupational therapy: 20.5%; 
Speech therapy: 37.4%. 

Age: 3 year: No Down syndrome; 
Physical therapy: 1.2%; 
Occupational therapy: 1%; 
Speech therapy: 2.7%. 

Age: 4 year: Down syndrome; 
Physical therapy: 18.7%; 
Occupational therapy: 14.9%; 
Speech therapy: 31.4%. 

Age: 4 year: No Down syndrome; 
Physical therapy: 1.2%; 
Occupational therapy: 1.1%; 
Speech therapy: 2.4%. 

Source: GAO analysis of 2001 through 2008 data from a private health 
insurance company for the claims representing its experience with one 
of the largest national employers. 

Note: The age ranges in our analysis are constructed so that, for 
example, "under 1 year" includes all children from birth up to but not 
including their first birthday, and so on, with each range consisting 
of 1 full year. 

[End of figure] 

The Medicaid data that we reviewed from seven states also show that 
children from birth through age 4 with Down syndrome who were enrolled 
in Medicaid in 2007 received more outpatient and office-based care to 
address their special health care needs than other children of the 
same age.[Footnote 40] For example, among the seven states, children 
with Down syndrome received 2.7 to 5.3 times more outpatient services 
and 1.6 to 4.5 times more office-based services than children without 
Down syndrome. (See appendix I for more Medicaid data.) 

Children with Down Syndrome Were Hospitalized More Frequently and Had 
Longer Hospital Stays Than Other Children: 

According to our analysis of inpatient care[Footnote 41] data from a 
large private health insurance company, from birth through early 
childhood, children with Down syndrome were hospitalized, on average, 
nearly twice as often and stayed twice as long as children without 
Down syndrome.[Footnote 42] The differences in the average number of 
hospitalizations and the average length of stay were most pronounced 
in the first years of life and diminished by age 4. (See figs. 4 and 
5.) For example, for children with Down syndrome under 1 year of age, 
the average number of hospitalizations was 2.2, and the average length 
of stay was 7.6 days. In contrast, for children of the same age 
without Down syndrome, the average number of hospitalizations was 1.1, 
and the average length of stay was 2.1 days.[Footnote 43] In an older 
group--children 4 years of age--children with and without Down 
syndrome were hospitalized about the same number of times, an average 
of 1.3 times for children with Down syndrome and an average of 1.2 
times for children without, and for about the same length of time, an 
average of 2.0 days for children with Down syndrome and 1.7 days for 
children without. 

[Refer to PDF for image] 

[End of figure] 

Figure 4: Average Number of Hospitalizations of Children in Our 
Review, by Age: 

[Refer to PDF for image: vertical bar graph] 

Average number of hospitalizations: 

Age: Under 1 year; 
Children with Down syndrome: 2.2; 
Children without Down syndrome: 1.1. 

Age: 1 year; 
Children with Down syndrome: 1.9; 
Children without Down syndrome: 1.2. 

Age: 2 years; 
Children with Down syndrome: 8.9; 
Children without Down syndrome: 3.5. 

Age: 3 years; 
Children with Down syndrome: 4.8; 
Children without Down syndrome: 3.5. 

Age: 4 years; 
Children with Down syndrome: 1.3; 
Children without Down syndrome: 1.2. 

Source: GAO analysis of 2001 through 2008 data from a private health 
insurance company for the claims representing its experience with one 
of the largest national employers. 

Notes: The increase in hospitalizations for children 2 years of age 
with Down syndrome may be a result of physicians waiting to address 
certain health issues--such as some ear, nose, and throat issues--
until children are older. The age ranges in our analysis are 
constructed so that, for example, "under 1 year" includes all children 
from birth up to but not including their first birthday, and so on, 
with each range consisting of 1 full year. 

[End of figure] 

Figure 5: Average Length of Hospital Stay of Children in Our Review, 
by Age: 

[Refer to PDF for image: vertical bar graph] 

Average length of stay (days): 

Age: Under 1 year; 
Children with Down syndrome: 7.6; 
Children without Down syndrome: 2.1. 

Age: 1 year; 
Children with Down syndrome: 4.5; 
Children without Down syndrome: 1.9. 

Age: 2 years; 
Children with Down syndrome: 0.8; 
Children without Down syndrome: 0.6. 

Age: 3 years; 
Children with Down syndrome: 0.9; 
Children without Down syndrome: 0.6. 

Age: 4 years; 
Children with Down syndrome: 2; 
Children without Down syndrome: 1.7. 

Source: GAO analysis of 2001 through 2008 data from a private health 
insurance company for the claims representing its experience with one 
of the largest national employers. 

Note: The age ranges in our analysis are constructed so that, for 
example, "under 1 year" includes all children from birth up to but not 
including their first birthday, and so on, with each range consisting 
of 1 full year. 

[End of figure] 

Our review of inpatient claims data showed some differences in the 
types of hospitalizations for children with Down syndrome compared to 
other children.[Footnote 44] For example, the most common type of 
hospitalization for children with Down syndrome under 1 year of age 
was cardiothoracic-related surgery; 6 percent of children under 1 year 
of age with Down syndrome had this hospitalization type, compared to 
0.03 percent of other children.[Footnote 45] Furthermore, while other 
hospitalization types--such as bronchitis and asthma, pneumonia, and 
ear issues--appeared as common types of hospitalizations in both 
groups, the percentage of children with Down syndrome hospitalized for 
these reasons was higher. 

The Medicaid data that we reviewed from seven states also show that 
children from birth through age 4 with Down syndrome who were enrolled 
in Medicaid in 2007 generally had more inpatient care. Children with 
Down syndrome had more hospitalizations (in six of the seven states) 
and longer hospital stays to address their special health care needs 
than other children of the same age.[Footnote 46] For example, among 
the seven states, children with Down syndrome had 1.0 to 7.4 times 
more hospitalizations and 1.5 to 10.2 times longer stays than children 
without Down syndrome. (See appendix I for more Medicaid data.) 

Children with Down Syndrome Had Higher Average Medical Care 
Expenditures Than Other Children, with Differences Decreasing as 
Children Aged: 

In our review, the total average medical expenditures[Footnote 47] for 
children with Down syndrome, from birth through early childhood, were 
an average of five times higher than the expenditures for children 
without Down syndrome;[Footnote 48] however, both total expenditures 
and the difference in expenditures decreased substantially by the time 
children with Down syndrome were 3 years of age. (See figure 6.) The 
expenditures were also higher for children with Down syndrome for each 
type of medical care--outpatient, office-based, and inpatient care. 
Inpatient care for children under 1 year of age had the greatest 
difference, with average expenditures of almost $43,000 for children 
with Down syndrome and $2,000 for children without. The difference in 
expenditures reflects the fact that children with Down syndrome had a 
higher utilization of medical care or more expensive medical services 
than children without Down syndrome. 

Figure 6: Average Expenditures for Outpatient, Office-Based, and 
Inpatient Services for Children in Our Review, by Age: 

[Refer to PDF for image: stacked vertical bar graph] 

Average expenditures: 

Age: Under 1 year: Down syndrome; 
Inpatient: $42,700; 
Outpatient: $3,600; 
Office-based: $2,600; 
Total: $48,900. 

Age: Under 1 year: No Down syndrome; 
Inpatient: $2,100; 
Outpatient: $800; 
Office-based: $1,000; 
Total: $4,000. 

Age: 1 year: Down syndrome; 
Inpatient: $24,000;
Outpatient: $3,600; 
Office-based: $2,200; 
Total: $29,800. 

Age: 1 year: No Down syndrome; 
Inpatient: $5,700; 
Outpatient: $1,000; 
Office-based: $700. 
Total: $7,400. 

Age: 2 year: Down syndrome; 
Inpatient: $20,100; 
Outpatient: $3,000; 
Office-based: $1,700; 
Total: $24,900. 

Age: 2 year: No Down syndrome; 
Inpatient: $6,300; 
Outpatient: $1,000; 
Office-based: $400; 
Total: $7,700. 

Age: 3 year: Down syndrome; 
Inpatient: $9,100; 
Outpatient: $2,800; 
Office-based: $1,500; 
Total: $13,400. 

Age: 3 year: No Down syndrome; 
Inpatient: $6,900; 
Outpatient: $1,000; 
Office-based: $400; 
Total: $8,300. 

Age: 4 year: Down syndrome; 
Inpatient: $10,300; 
Outpatient: $3,000; 
Office-based: $1,500; 
Total: $14,700. 

Age: 4 year: No Down syndrome; 
Inpatient: $7,400; 
Outpatient: $1,000; 
Office-based: $400; 
Total: $8,900. 

Source: GAO analysis of 2001 through 2008 data from a private health 
insurance company for the claims representing its experience with one 
of the largest national employers. 

Notes: Office-based care includes services received in facilities such 
as physician offices, community health clinics, and school-based 
health clinics. Outpatient care includes services received in 
facilities such as urgent care facilities, ambulatory surgical 
centers, and hospital emergency rooms. Inpatient care includes 
services received in residential health care facilities such as 
hospitals. Some services, such as therapy, can be provided in 
different types of facilities. For this analysis, we classified each 
service as outpatient care, office-based care, or inpatient care based 
on the type of facility in which it was provided. Expenditure data 
were adjusted to 2008 dollars and include the amount paid by the 
primary insurance company, the deductible, coinsurance, and the amount 
paid by secondary insurance. The age ranges in our analysis are 
constructed so that, for example, "under 1 year" includes all children 
from birth up to but not including their first birthday, and so on, 
with each range consisting of 1 full year. 

[End of figure] 

Families Were More Likely to Receive the Resources Recommended for 
Time of Diagnosis Than Those Recommended for Early Childhood, and May 
Face Barriers to Using Available Resources: 

Families Were Likely to Receive Many, but Not All, of the Resources 
That Down Syndrome Clinic Specialists Recommended They Receive at 
Diagnosis: 

Down syndrome advocacy groups in selected communities told us that 
families in those communities were likely to receive many, but not 
all, of the resources that Down syndrome clinic specialists 
recommended they receive at the time of diagnosis. The specialists 
from six Down syndrome clinics we interviewed recommended 32 
resources. (See table 2.) Advocacy groups reported that families were 
likely to receive about two-thirds (20 of 32) of the recommended 
resources; these resources were generally directly related to the 
health of children with Down syndrome, such as information about the 
risk of cardiac problems and the need for thyroid screening. Families 
were less likely to receive about one-third (10 of 32) of the 
recommended resources; these resources were generally related to the 
family's understanding of Down syndrome and overall family well-being, 
such as a copy of the Down syndrome-specific health care guidelines 
[Footnote 49] and information about the causes of Down syndrome and 
the effect of Down syndrome on the family and caregivers.[Footnote 50] 

Table 2: Resources That Specialists from Six Down Syndrome Clinics 
Recommended Families Receive Immediately upon Diagnosis, Likelihood of 
Receipt, and Consequences If Not Received: 

Recommended resources: Information about: Need to screen for cardiac 
problems; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If the child is not screened, serious complications or death 
in the first days or weeks of life may occur. 

Recommended resources: Information about: Need to perform 
echocardiogram[A]; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not performed, a congenital heart problem could go 
undiagnosed, and serious complications or death may occur. 

Recommended resources: Information about: Need for thyroid 
screening[B]; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If the child is not screened, hypothyroidism may not be 
detected, and permanent cognitive impairment, along with growth and 
metabolic issues, may occur. 

Recommended resources: Information about: Need for complete blood 
count screening[C]; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If the child is not screened, early signs of leukemia may go 
undetected. 

Recommended resources: Information about: Need for hearing 
screening[C]; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If the child is not screened, problems such as impaired 
language development or permanent hearing loss may occur. 

Recommended resources: Information about: Need for vaccines (following 
standard schedule); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If the child is not vaccinated, severe illness due to 
delayed immune system maturity may occur. 

Recommended resources: Information about: Impact of low muscle tone 
(e.g., for feeding, walking); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may not understand the need for 
interventions such as therapy services, which can help improve feeding 
and gross and fine motor skills, such as learning how to sit, crawl, 
stand, and walk. 

Recommended resources: Information about: Potential for 
gastrointestinal problems; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not informed, families may be unaware that the child can 
experience complications such as an intestinal obstruction, which may 
be life-threatening. 

Recommended resources: Information about: Potential need for referrals 
to pediatric specialists; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If families do not access a specialist when care is needed, 
conditions may go undiagnosed or untreated. 

Recommended resources: Information about: Potential developmental 
delays; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If families are not prepared for potential developmental 
delays, such as delayed speech, they may have unrealistic expectations 
of their child and experience additional stress and confusion. 

Recommended resources: Information about: Most medical issues for 
children with Down syndrome being treatable; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may experience unnecessary stress 
and anxiety about their child’s health and well-being. 

Recommended resources: Information about: Need for therapy services 
(e.g., occupational and speech therapy); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, the child may not have appropriate 
therapies and may develop maladaptive behaviors. 

Recommended resources: Information about: Likelihood for Down syndrome 
recurrence (e.g., check karyotype[D]); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, parents may be unaware that their child has 
a rare, inherited form of Down syndrome. 

Recommended resources: Information about: Breast feeding support 
resources; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, child may have difficulty feeding—-
especially sucking and swallowing-—which can affect growth. 

Recommended resources: Information about: Overview of health issues 
that are likely to occur in the first year or two of life; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If families do not receive this information, they may be 
unaware of what conditions their child is at risk for developing and 
what symptoms they should look for. 

Recommended resources: Referral to early intervention program in their 
area; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If this referral is not received, developmental delays 
cannot be addressed and monitored and the child may develop 
maladaptive behaviors. 

Recommended resources: Referral to meet with a genetic counselor; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, family may not benefit from the expertise 
of a genetic counselor, who can discuss the cause of Down syndrome and 
any related health concerns. 

Recommended resources: Contact information for local Down syndrome 
support groups; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may not benefit from learning 
about the experiences of other families and may face difficulties, 
such as feeling isolated, which may affect their ability to care for 
their child with Down syndrome or their other children. 

Recommended resources: Contact information for a Down syndrome clinic 
(if available in their area); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, child or family may not benefit from the 
specialized resources of a Down syndrome clinic, if needed. 

Recommended resources: Additional support (e.g., social workers) to 
families whose babies have long hospital stays; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, child or family may not benefit from the 
specialized resources of a Down syndrome clinic, if needed. 

Recommended resources: Information about: When child's first early 
intervention[E] visit should occur; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If families are not informed that the first visit should 
occur within the first few weeks or months of birth, they may delay 
accessing this important resource. 

Recommended resources: Information about: Importance of mother and 
infant bonding; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If families are not informed of the importance of this 
bonding and the mother is struggling to bond with her infant, she may 
experience depression and anxiety, which can have repercussions for 
the health of the child if it continues over a long period of time. 

Recommended resources: Information about: Causes of Down syndrome; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families without information or with 
inaccurate information may struggle to cope with the diagnosis and 
understand their child. 

Recommended resources: Information about: Effect of Down syndrome on 
family and caregivers; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, family members may experience stress and 
develop feelings of isolation. 

Recommended resources: Information about: Sibling support resources; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, siblings may experience stress and develop 
feelings of isolation that could affect long-term family well-being. 

Recommended resources: Information about: Sources for accurate, up-to-
date Down syndrome information; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If families do not receive accurate, up-to-date Down 
syndrome information, they may not be informed advocates for their 
child and family as they negotiate the health care system. 

Recommended resources: Information about: Importance of enjoying time 
with baby; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If families are not informed of the importance of enjoying 
their baby, they may focus more on the Down syndrome diagnosis than on 
their new baby. 

Recommended resources: Information about: Financial assistance 
resources (e.g., advisor, public insurance); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If families do not receive this information, they may be 
unaware of the long-term financial planning needs of their child with 
Down syndrome or the insurance coverage that their child can access. 

Recommended resources: Contact information for national Down syndrome 
groups; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may not access important resources 
that can help with stress and feelings of isolation. 

Recommended resources: Copy of health care guidelines for children 
with Down syndrome (e.g., those from AAP and/or DSMIG[F]); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may not be fully aware of the 
health risks their child may face and, as a result, may be less 
effective advocates. 

Recommended resources: Information about what Down syndrome is; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: half said like; half said unlikely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may have inaccurate information, 
which may affect how they understand and cope with the diagnosis and 
advocate for their child. 

Recommended resources: Additional support to families who ask for help 
talking about Down syndrome diagnosis; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: half said like; half said unlikely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may experience confusion, anxiety, 
and isolation because they do not know how to cope with the diagnosis 
and convey their child’s diagnosis to people in their social networks. 

Source: GAO. 

Note: According to the Down syndrome clinic specialists, some of the 
resources in this table should be received by families at the time of 
diagnosis and again throughout the child's life. 

[A] An echocardiogram is a test that uses sound waves to create a 
moving picture of the heart. 

[B] Newborns across the United States are universally screened for 
thyroid problems at birth. 

[C] Newborns in most states are universally screened for hearing 
problems at birth. 

[D] A karyotype is a test to examine the chromosomes in a sample of 
cells. 

[E] Early intervention programs, which are generally administered by 
state-level agencies, provide infants and toddlers (ages 0 to 3) who 
have a disability, or who are at risk of developing a disability, and 
their families with appropriate services, such as speech therapy, 
occupational therapy, and family counseling. 

[F] Both the American Academy of Pediatrics (AAP) and the Down 
Syndrome Medical Interest Group (DSMIG) have published Down syndrome-
specific health care guidelines for physicians. These guidelines for 
physicians contain many of the same health items that are on this list. 

[End of table] 

The time of diagnosis is a key time for children with Down syndrome 
and their families. According to the Down syndrome clinic specialists, 
if newborns are not tested for certain medical conditions immediately 
after diagnosis, serious and even life-threatening consequences can 
occur. In addition, specialists from one Down syndrome clinic noted 
that this is a key time for families to be given information to help 
them understand how their child's diagnosis may affect their family. 
However, according to the Down syndrome clinic specialists, families 
can be overwhelmed if too much information is presented at the time of 
diagnosis, especially if they are already overwhelmed emotionally and 
psychologically from receiving the diagnosis. 

All of the specialists we interviewed at the six Down syndrome clinics 
agreed that if families do not receive resources recommended for the 
time of diagnosis, the health consequences for the child could be 
severe. For example, if a newborn's heart defect is not detected 
early, he or she may experience serious complications and even death 
in the first days or weeks of life. If a newborn's 
hypothyroidism[Footnote 51]--which can be easily treated--is not 
detected early, he or she may experience additional cognitive 
impairment or other complications. If a family is not provided with a 
copy of the Down syndrome-specific health care guidelines, they may 
not be fully aware of the health risks their child may face, and they 
may be less effective advocates. (See table 2 for these and other 
health consequences that may occur if these resources are not received 
by families.) 

Advocacy groups told us that if there were gaps in the resources that 
families received from their health care providers upon diagnosis, 
advocacy groups and other community organizations sometimes provided 
the missing material. For example, advocacy groups sometimes drop off 
"New Parent Packets" at area hospitals that include the Down syndrome-
specific health care guidelines and information about what Down 
syndrome is and how it can affect the family. Advocacy groups also 
offer family support groups, including groups geared specifically 
toward grandparents and fathers, and host seminars on financial 
planning. 

Families Were Less Likely to Receive Most of the Resources That Down 
Syndrome Clinic Specialists Recommended for Early Childhood: 

In contrast to the time of diagnosis, Down syndrome advocacy groups in 
selected communities told us that families of children with Down 
syndrome in those communities were less likely to receive most of the 
recommended resources from their health care providers for early 
childhood. These resources are important to their children's ongoing 
health and the well-being of their families. The specialists from six 
Down syndrome clinics we interviewed recommended 23 resources that 
families should receive through their health care providers after 
diagnosis and throughout early childhood. (See table 3.) Advocacy 
groups reported that families were likely to receive only about one- 
quarter (6 of 23) of these resources. For example, resources that 
families were likely to receive included information about the need to 
screen for celiac disease, the need for vision screening, and the risk 
for upper respiratory infections. But families were less likely to 
receive about three-quarters (17 of 23) of the resources recommended 
for early childhood. For example, families were less likely to receive 
information about the need to see a pediatric dentist, how to prevent 
obesity, and the importance of communicating with their child. In 
addition, families were less likely to receive a copy of a Down 
syndrome-specific growth chart. 

Table 3: Resources Important to the Ongoing Health of the Child That 
Specialists from Six Down Syndrome Clinics Recommended Families 
Receive for Early Childhood, Likelihood of Receipt, and Consequences 
If Not Received: 

Recommended resources: Information about: Need for vision screening; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If the child is not screened, an undiagnosed impairment may 
delay vision development and may cause permanent blindness. 

Recommended resources: Information about: Need for celiac disease 
screening[A]; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If the child is not screened, undiagnosed celiac disease may 
affect the child’s growth and cause problems such as diarrhea, 
constipation, and behavioral changes. 

Recommended resources: Information about: Need for cervical spine 
screening[B]; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If the child is not screened, undiagnosed movement of the 
cervical spine may lead to serious or permanent damage to the spinal 
cord. 

Recommended resources: Information about: Need to perform neck X-ray; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If the child is not screened, undiagnosed movement of the 
cervical spine may lead to serious or permanent damage to the spinal 
cord. 

Recommended resources: Information about: Need to perform neurological 
examination[C]; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If the child is not screened, undiagnosed movement of the 
cervical spine may lead to serious or permanent damage to the spinal 
cord. 

Recommended resources: Information about: Risk for upper respiratory 
infections; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not informed, families may not be aware that upper 
respiratory issues need to be treated quickly to prevent more serious 
illness. 

Recommended resources: Information about: Need for more doctor visits 
for child with Down syndrome; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may be surprised and unprepared 
for the frequent referrals to specialists and the need for follow-up 
appointments. 

Recommended resources: Information about: Need to see a pediatric 
dentist; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may be unaware that children with 
Down syndrome have a high risk for dental problems, such as missing or 
crowded teeth. 

Recommended resources: Information about: Potential for infantile 
spasms[D]; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not informed, the parents may not recognize the symptoms, 
which might lead to additional developmental delays. 

Recommended resources: Information about: Potential sleeping issues; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not informed, families may be unaware that sleeping 
issues, particularly obstructive sleep apnea and sleep disturbances, 
can lead to chronic cardiopulmonary disease as well as problems with 
attention, behavior, and learning. 

Recommended resources: Information about: Potential use of Synagis 
vaccine[E] (e.g., for respiratory illness); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not informed, at-risk children may not be vaccinated and 
can develop respiratory syncytial virus, which can cause illnesses 
ranging from the common cold to a very severe illness, and even death. 

Recommended resources: Information about: Potential sensory processing 
disorders[F]; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not informed, families may be unaware that children with 
Down syndrome can develop sensitivities such as those related to food 
texture, touch, and sound, which can lead to behavior that further 
complicates development. 

Recommended resources: Information about: Physical activity and proper 
nutrition to prevent obesity; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not informed, families may be unaware that the child can 
develop obesity and associated medical conditions, such as type II 
diabetes and blood pressure problems. Lack of physical activity 
affects other health issues, such as energy levels, sleep, and mental 
health. 

Recommended resources: Information about: Transition that occurs at 
age 3 from early intervention[G] to school system; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not informed, parents may not place their child in the 
most appropriate educational setting. 

Recommended resources: Information about: Importance of communicating 
with child (e.g., sign language); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not informed, families may not use early communication 
techniques, which may lead to frustration and behavioral problems. 

Recommended resources: Information about: Learning styles for children 
with Down syndrome (e.g., visual learners); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not informed, parents may not learn about educational 
techniques that work well for children with Down syndrome. 

Recommended resources: Information about: What it is like to grow up 
with Down syndrome; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may have inaccurate information, 
which may affect how they cope with the diagnosis, approach parenting, 
and understand what is possible for their child. 

Recommended resources: Information about: National conferences where 
families can network and get information; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may miss an opportunity to 
interact with other people with Down syndrome and their families and 
gather important information. 

Recommended resources: Information about: Support groups for 
comorbidities/dual diagnoses, if needed (e.g., autism); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families of children with dual diagnoses 
may feel excluded from Down syndrome-only support groups and 
experience feelings of isolation. 

Recommended resources: Information about: The Special Olympics[H]; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, children may not participate in the Special 
Olympics; programs such as this help physical development, which is 
important for mental health and weight management. 

Recommended resources: Information about: Social development 
opportunities in the community (e.g., playgroups); 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, children with Down syndrome may miss the 
opportunity to practice speech and language, model behaviors, and 
develop social skills. 

Recommended resources: Information about: Non-Down syndrome community 
resources for children; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, children with Down syndrome may not feel 
integrated into their community and could miss out on these social 
development opportunities. 

Recommended resources: Copy of a Down syndrome-specific growth 
chart[I]; 
Twelve advocacy groups' assessment of likelihood of receipt by 
families: less likely to be received; 
Consequences Down syndrome clinic specialists reported if resource not 
received: If not received, families may not have an understanding of 
the growth expectations for their child and how they differ from the 
typical growth chart. 

Source: GAO. 

Note: Both the American Academy of Pediatrics (AAP) and the Down 
Syndrome Medical Interest Group (DSMIG) have published Down syndrome-
specific health care guidelines for physicians. These guidelines for 
physicians contain many of the same items that are on this list. 

[A] Celiac disease causes a reaction to eating gluten, which damages 
the lining of the small intestine and prevents the intestine from 
absorbing food. 

[B] A cervical spine screening can detect increased mobility of the 
cervical spine, a condition also referred to as atlantoaxial 
instability. 

[C] A neurological examination uses a series of questions and tests to 
check the brain, spinal cord, and nerve function. The examination also 
checks mental status, coordination, and the functioning of muscles, 
senses, and reflexes. 

[D] Infantile spasms are a type of seizure seen in infancy and 
childhood that causes a sudden bending forward of the body with a 
stiffening of the arms and legs. 

[E] Synagis is a Food and Drug Administration-approved medication to 
help protect young babies from respiratory syncytial virus, a common 
virus that can be serious and, in some cases, can cause death. 

[F] Sensory processing disorders are characterized by over-or 
undersensitivity to environmental stimuli. 

[G] Early intervention programs, which are generally administered by 
state-level agencies, provide infants and toddlers (ages 0 to 3) who 
have disabilities, or who are at risk of developing a disability, and 
their families with appropriate services, such as speech therapy, 
occupational therapy, and family counseling. 

[H] The Special Olympics is an organization and competition for people 
who have intellectual disabilities and guides local, national, and 
international programs. Children with intellectual disabilities 
between the ages of 2 through 7 can participate in the Youth Athletes 
program, and children with intellectual disabilities ages 8 and older 
can become Special Olympics athletes. 

[I] C. Cronk et al. "Growth Charts for Children with Down Syndrome: 1 
Month to 18 Years of Age," Pediatrics, vol. 81, no. 1 (1988). 

[End of table] 

According to the Down syndrome clinic specialists, some information is 
most useful if provided in early childhood rather than at the time of 
diagnosis. For example, information about celiac disease is not 
necessary at diagnosis because it usually is not detectable until the 
child has begun eating solid foods. 

According to the clinic specialists, if families do not receive the 
resources recommended for early childhood, there may be health 
consequences for the child. For example, if a child's poor vision is 
not detected, he or she may develop permanent vision loss. Similarly, 
if a child's celiac disease is not treated, the child's growth may be 
affected and he or she may develop diarrhea, constipation, and 
behavioral changes. (See table 3 for these and other health 
consequences that may occur if these resources are not received by 
families.) 

Advocacy groups told us that if there were gaps in the resources that 
families received from their health care providers in early childhood, 
advocacy groups and other community organizations sometimes provided 
the missing material. For example, one advocacy group initiated a 
support group for families of children with Down syndrome who also 
have other medical conditions, such as autism. In addition, advocacy 
groups provide social development opportunities for children with Down 
syndrome by hosting playgroups, providing information about the 
Special Olympics to families, and sponsoring members to attend 
national and state conferences. Some community organizations also 
offer social opportunities for children, including children with Down 
syndrome, such as baseball leagues and swimming classes. 

Advocacy Groups and National Survey Results Indicate Families May Face 
Barriers Such as Outdated or Inaccurate Information: 

According to Down syndrome advocacy groups, families in their 
communities may face barriers that can prevent them from using 
available resources, which can have a significant impact on the child 
and the family. (See table 4.) For example, barriers such as outdated 
or inaccurate information may lead parents to have a limited 
understanding of their child's Down syndrome diagnosis and, as a 
result, underestimate their child's potential. Important resources, 
such as early intervention therapy services and parent support groups, 
can be out of reach for some families who face barriers. For instance, 
advocacy groups identified barriers related to difficulty 
communicating in English, a lack of transportation, lengthy travel 
times to appointments (because of distance to resources or geographic 
location), or busy work schedules (which prevent them from accessing 
certain resources, such as early intervention therapy services and 
doctor appointments, that may only be available during the workweek). 
Furthermore, advocacy groups mentioned that culture can be a barrier 
to accessing resources. For example, in some communities, parents of 
children with Down syndrome from other countries were reluctant to 
seek resources because of concerns about their community's social 
acceptance of people with Down syndrome. 

Table 4: Barriers Commonly Cited by Advocacy Groups in Selected 
Communities: 

Barrier: Outdated or inaccurate information; 
Number of advocacy groups that cited barrier: 7 of 12. 

Barrier: Lack of insurance or barriers to access to care; 
Number of advocacy groups that cited barrier: 7 of 12. 

Barrier: Lack of transportation; 
Number of advocacy groups that cited barrier: 7 of 12. 

Barrier: Lack of adequate financial resources; 
Number of advocacy groups that cited barrier: 6 of 12. 

Barrier: Difficulty communicating in English; 
Number of advocacy groups that cited barrier: 6 of 12. 

Barrier: Negative attitudes about Down syndrome; 
Number of advocacy groups that cited barrier: 6 of 12. 

Barrier: Lack of technology access (e.g., computer, Internet, 
telephone); 
Number of advocacy groups that cited barrier: 5 of 12. 

Barrier: Inability to recognize or connect with resources; 
Number of advocacy groups that cited barrier: 5 of 12. 

Barrier: Cultural differences; 
Number of advocacy groups that cited barrier: 5 of 12. 

Barrier: Distance to resources, geographic location; 
Number of advocacy groups that cited barrier: 4 of 12. 

Barrier: Limited time; 
Number of advocacy groups that cited barrier: 4 of 12. 

Source: GAO analysis of information provided by 12 advocacy groups. 

Note: Barriers cited by fewer than 4 of the advocacy groups were not 
included. 

[End of table] 

Results of the 2005-2006 NS-CSHCN also showed that families of 
children with Down syndrome may have trouble accessing needed 
services. The survey indicated that of the families of children with 
Down syndrome, birth through age 17, in the United States who needed a 
referral in the previous 12 months, an estimated 24 percent had 
problems obtaining referrals. Similarly, of the families whose 
children needed physical, occupational, or speech therapy in the 
previous 12 months, 18 percent of their children did not receive all 
needed therapies. In addition, 16 percent of families of children with 
Down syndrome reported that they faced barriers using needed resources 
in the previous 12 months. Some of the most commonly cited barriers 
were as follows: 

* not getting services when their child needed them, 

* not getting needed information, 

* having problems finding service providers with needed skills, 

* not having the types of services their child needed in their area, 
and: 

* having problems in communication between service providers. 

Except for problems in communication between service providers, each 
of these barriers was also mentioned in our interviews with advocacy 
groups. 

Some advocacy groups reported that they and their communities have 
made efforts to address some of the barriers faced by families related 
to inaccurate information, financial issues, language, and 
transportation. To address issues of inaccurate information, one 
advocacy group initiated an educational outreach program to health 
care professionals at area hospitals to share important information 
about Down syndrome, including contact information for local support 
groups and suggestions for giving a Down syndrome diagnosis to a 
family. Some advocacy groups made efforts to address financial issues; 
for example, some advocacy groups arranged for financial advisors to 
speak to parents at workshops. In addition, some advocacy groups made 
efforts to address language barriers by translating materials into 
Spanish and having a staff person available who spoke Spanish. 
[Footnote 52] Finally, several advocacy groups told us that they were 
taking steps to address barriers related to transportation. For 
example, an advocacy group located in an urban area established four 
satellite community groups in outlying areas so that families could 
access resources without driving into the city. 

Agency Comments: 

We provided a draft of this report to the Secretary of Health and 
Human Services for comment. In response, the Department of Health and 
Human Services (HHS) provided us with general comments, which are 
reprinted in appendix II, and technical comments that we incorporated 
as appropriate. In its general comments, HHS indicated that our report 
"presents a thorough summary of the current practices and the 
successes and challenges faced by children with Down syndrome and 
their families." HHS emphasized the importance of early intervention 
services in maximizing children's long-term development. The agency 
also suggested that cost-benefit analyses, which were beyond the scope 
of this review, could inform decisions about providing health care 
services to children with Down syndrome. HHS also suggested that we 
compare the results of the data analyses from the private health 
insurance data, the Medicaid data, and the NS-CSHCN data. As we noted 
earlier in this report, detailed comparisons across the private health 
insurance and Medicaid data would not be appropriate because of 
differences in the underlying insurance coverage. Finally, HHS 
suggested that we provide population sizes for the data sets analyzed, 
which we have done. 

We are sending a copy of this report to the Secretary of Health and 
Human Services. The report also is available at no charge on the GAO 
Web site at [hyperlink, http://www.gao.gov]. 

If you or your staffs have any questions regarding this report, please 
contact me at (202) 512-7114 or bascettac@gao.gov. Contact points for 
our Offices of Congressional Relations and Public Affairs may be found 
on the last page of this report. GAO staff who made major 
contributions to this report are listed in appendix III. 

Signed by: 

Cynthia A. Bascetta Director, Health Care: 

[End of section] 

Appendix I: Medicaid Data: 

Figures 7 through 10 show that of the children enrolled in Medicaid in 
2007, children with Down syndrome from birth through age 4 received 
more medical care than children without Down syndrome in the seven 
states in our study.[Footnote 53] Children with Down syndrome had more 
outpatient and office-based services than children without Down 
syndrome in each state we reviewed. (See figure 7.) In addition, 
children with Down syndrome generally had more hospitalizations and a 
longer average length of stay than children without Down syndrome. 
(See figures 8 and 9.) Medicaid expenditures were higher for children 
with Down syndrome than for children without Down syndrome for 
outpatient, office-based, and inpatient care. (See figure 10.) 

Figure 7: Average Number of Medicaid Outpatient and Office-Based 
Services for Children from Birth through Age 4, by State, 2007: 

[Refer to PDF for image: vertical bar graph] 

Average number of services: 

California: Outpatient; 
Children with Down syndrome: 7; 
Children without Down syndrome: 1.3. 

California: Office-based; 
Children with Down syndrome: 17.4; 
Children without Down syndrome: 3.9. 

Illinois: Outpatient; 
Children with Down syndrome: 2.7; 
Children without Down syndrome: 0.9. 

Illinois: Office-based; 
Children with Down syndrome: 14.5; 
Children without Down syndrome: 4.9. 

Louisiana: Outpatient; 
Children with Down syndrome: 8.7; 
Children without Down syndrome: 2.3. 

Louisiana: Office-based; 
Children with Down syndrome: 26.3; 
Children without Down syndrome: 8.1. 

New York: Outpatient; 
Children with Down syndrome: 8.1; 
Children without Down syndrome: 2.2. 

New York: Office-based; 
Children with Down syndrome: 18.2; 
Children without Down syndrome: 5.3. 

North Carolina: Outpatient; 
Children with Down syndrome: 7.2; 
Children without Down syndrome: 2. 

North Carolina: Office-based; 
Children with Down syndrome: 29.9; 
Children without Down syndrome: 14.5. 

Texas: Outpatient; 
Children with Down syndrome: 4.7; 
Children without Down syndrome: 1.1. 

Texas: Office-based; 
Children with Down syndrome: 29.7; 
Children without Down syndrome: 11.4. 

Wisconsin: Outpatient; 
Children with Down syndrome: 4.9; 
Children without Down syndrome: 1.8. 

Wisconsin: Office-based; 
Children with Down syndrome: 13; 
Children without Down syndrome: 8. 

Source: GAO analysis of 2007 Medicaid MAX data. 

[End of figure] 

Figure 8: Average Number of Medicaid Hospitalizations for Children 
from Birth through Age 4, by State, 2007: 

[Refer to PDF for image: vertical bar graph] 

Average number of hospitalization: 

California:
Children with Down syndrome: 0.5; 
Children without Down syndrome: 0.1. 

Illinois: 
Children with Down syndrome: 0.7; 
Children without Down syndrome: 0.1. 

Louisiana: 
Children with Down syndrome: 0.7; 
Children without Down syndrome: 0.2. 

New York: 
Children with Down syndrome: 1; 
Children without Down syndrome: 0.9. 

North Carolina: 
Children with Down syndrome: 0.6; 
Children without Down syndrome: 0.3. 

Texas: 
Children with Down syndrome: 0.6; 
Children without Down syndrome: 0.4. 

Wisconsin: 
Children with Down syndrome: 0.3; 
Children without Down syndrome: 0.3. 

Source: GAO analysis of 2007 Medicaid MAX data. 

[End of figure] 

Figure 9: Average Length of Medicaid Hospital Stay for Children from 
Birth through Age 4, by State, 2007: 

[Refer to PDF for image: vertical bar graph] 

Average length of stay in days: 

California:
Children with Down syndrome: 4; 
Children without Down syndrome: 0.5. 

Illinois: 
Children with Down syndrome: 5.9; 
Children without Down syndrome: 0.6. 

Louisiana: 
Children with Down syndrome: 6.6; 
Children without Down syndrome: 1. 

New York: 
Children with Down syndrome: 5.7; 
Children without Down syndrome: 2.4. 

North Carolina: 
Children with Down syndrome: 4.7; 
Children without Down syndrome: 1.2. 

Texas: 
Children with Down syndrome: 5.9; 
Children without Down syndrome: 1.4. 

Wisconsin: 
Children with Down syndrome: 2.1; 
Children without Down syndrome: 1.4. 

Source: GAO analysis of 2007 Medicaid MAX data. 

[End of figure] 

Figure 10: Average Medicaid Expenditures for Office-Based, Outpatient, 
and Inpatient Services for Children from Birth through Age 4, by 
State, 2007: 

[Refer to PDF for image: stacked vertical bar graph] 

Average expenditures: 

California: Down syndrome; 
Inpatient: $7,100; 
Outpatient: $400; 
Office-based: $1,600; 
Total: $9,000. 

California: No Down syndrome; 
Inpatient: $800; 
Outpatient: $400; 
Office-based: $1,600; 
Total: $1,200. 

Illinois: Down syndrome; 
Inpatient: $13,600;
Outpatient: $400; 
Office-based: $1,500; 
Total: $15,600. 

Illinois: No Down syndrome; 
Inpatient: $1,300; 
Outpatient: $100; 
Office-based: $400. 
Total: $1,700. 

Louisiana: Down syndrome; 
Inpatient: $11,900; 
Outpatient: $600; 
Office-based: $2,900; 
Total: $15,500. 

Louisiana: No Down syndrome; 
Inpatient: $1,200; 
Outpatient: $100; 
Office-based: $500; 
Total: $1,900. 

New York: Down syndrome; 
Inpatient: $14,600; 
Outpatient: $1,000; 
Office-based: $1,000; 
Total: $16,600. 

New York: No Down syndrome; 
Inpatient: $4,400; 
Outpatient: $200; 
Office-based: $300; 
Total: $4,900. 

North Carolina: Down syndrome; 
Inpatient: $5,300; 
Outpatient: $900; 
Office-based: $2,200; 
Total: $8,500. 

North Carolina: No Down syndrome; 
Inpatient: $800; 
Outpatient: $200; 
Office-based: $7400; 
Total: $1,700. 

Texas: Down syndrome; 
Inpatient: $12,300; 
Outpatient: $500; 
Office-based: $2,500; 
Total: $15,400. 

Texas: No Down syndrome; 
Inpatient: $1,400; 
Outpatient: $100; 
Office-based: $600; 
Total: $2,100. 

Wisconsin: Down syndrome; 
Inpatient: $2,900; 
Outpatient: $700; 
Office-based: $1,000; 
Total: $4,600. 

Wisconsin: No Down syndrome; 
Inpatient: $1,800; 
Outpatient: $300; 
Office-based: $600; 
Total: $2,600. 

Source: GAO analysis of 2007 Medicaid MAX data. 

Note: Expenditures represent the average Medicaid payments for office-
based, outpatient, and inpatient care made under fee-for-service 
arrangements. 

[End of figure] 

[End of section] 

Appendix II: Comments from the Department of Health and Human Services: 

Department Of Health And Human Services: 
Office Of The Secretary: 
Assistant Secretary far Legislation: 
Washington, DC 20201: 

September 24, 2010: 

Cynthia A Bascetta: 
Director, Health Care: 
U.S. Government Accountability Office: 
441 G Street N.W. 
Washington, DC 20548: 

Dear Ms. Bascetta: 

Attached are comments on the U.S. Government Accountability Office's 
(GAO) report entitled: "Children with Down Syndrome: Families Are More 
Likely to Receive Resources at Time of Diagnosis Than in Early 
Childhood" (GAO-10-975). 

The Department appreciates the opportunity to review this report 
before its publication. 

Sincerely, 

Signed by: 

Jim R. Esquea: 
Assistant Secretary for Legislation: 

Attachment: 

[End of letter] 

General Comments Of The Department Of Health And Human Services (HHS) 
on The Government Accountability Office's (GAO) Draft Correspondence 
Entitled, "Children With Downs Syndrome: Families Are More Likely To 
Receive Resources At Time Of Diagnosis Than In Early Childhood" (GA0-
10-975): 

The Department appreciates the opportunity to review and comment on 
this draft report. The report presents a thorough summary of the 
current practices and the successes and challenges faced by children 
with Down Syndrome and their families Following are specific comments: 

The report and report title suggest that Down Syndrome patients and 
families receive more treatment and services than those families 
without children with Down Syndrome. However, the report then proceeds 
to note these children are not getting all the services that 
specialists would recommend. 

We are concerned that the report's emphasis on the number of services 
received will drown out the improved impact from early intervention 
and the long term benefits. We suggest more context be provided from 
the previous GAO evaluation cited in footnote 31. If possible cost-
benefits should also be discussed. Given the concern about increased 
health care costs, quoting costs without context is not providing a 
fair review of the impact of the services and what benefits may be 
gained. 

GAO may also want to provide a hypothesis or make a statement 
regarding the difference in findings between health insurance (private 
and Medicaid), health services utilization, and expenditure data for 
children with Down Syndrome and the survey findings from specialists 
at Down Syndrome Specialty Care Clinics, advocacy groups, and the 
National Survey of Children with Special Health Care Needs results. 

Finally, we suggest that GAO may want to provide the population size 
for the data analyzed. For example, what are the total numbers for 
children with Down Syndrome compared to children without Down Syndrome 
in both the Medicaid study population and the large private health 
insurance company study population? 

[End of section] 

Appendix III: GAO Contact and Staff Acknowledgments: 

[End of section] 

GAO Contact: 

Cynthia A. Bascetta, (202) 512-7114 or bascettac@gao.gov: 

Staff Acknowledgments: 

In addition to the contact named above, Jenny Grover, Assistant 
Director; Julianne Flowers; Rich Lipinski; Sarah-Lynn McGrath; Julie 
E. Pekowski; Roseanne Price; Laurie F. Thurber; Karin J. Wallestad; 
and Jennifer Whitworth made key contributions to this report. 

[End of section] 

Footnotes: 

[1] Centers for Disease Control and Prevention, "Improved National 
Prevalence Estimates for 18 Selected Major Birth Defects - United 
States, 1999 to 2001," Morbidity and Mortality Weekly Report (Jan. 6, 
2006). 

[2] J. Ferguson et al., "Resident Physicians' Competencies and 
Attitudes in Delivering a Postnatal Diagnosis of Down Syndrome," 
Obstetrics and Gynecology, vol. 108, no. 4 (2006). 

[3] Pub. L. No. 110-374, § 2, 122 Stat. 4051, 4051 (2008). 

[4] It was beyond the scope of our work to evaluate the extent to 
which the medical care that the children received was appropriate. 

[5] Medicaid is a joint federal-state program that finances health 
care for certain low-income children, families, and individuals who 
are aged or disabled. The Centers for Medicare & Medicaid Services is 
responsible for the Medicaid program and related data. 

[6] The seven states were California, Illinois, Louisiana, New York, 
North Carolina, Texas, and Wisconsin. 

[7] To identify children with Down syndrome, we examined the diagnosis 
codes associated with services provided. In the private health 
insurance population, we identified the following cohorts of children 
with Down syndrome: children with Down syndrome under 1 year of age 
(N=318), 1 year of age (N=358), 2 years of age (N=418), 3 years of age 
(N=463), and 4 years of age (N=477). In the seven states where we 
analyzed Medicaid data, the population of children with Down syndrome 
from birth through age 4 ranged from a low of 261 children in one 
state to a high of 1,020 in another. 

[8] In our analysis of the 2007 Medicaid data, the required minimum 
period of enrollment for children under 1 year of age was the child's 
age minus 1 month. 

[9] Outpatient care includes services received in facilities such as 
urgent care facilities, ambulatory surgical centers, and hospital 
emergency rooms. Inpatient care includes services received in 
residential health care facilities such as hospitals. Office-based 
care includes services received in facilities such as physician 
offices, community health clinics, and school-based health clinics. 
For our analysis, we classified each service based on the type of 
facility in which it was provided. For example, in our analysis of the 
private health insurance claims data, we considered therapy services 
provided in an outpatient hospital setting to be outpatient care, 
while the same type of therapy services provided in a physician's 
office was classified as office-based care. 

[10] The reference group of children includes all children from birth 
through age 4 who did not have a Down syndrome diagnosis. 

[11] The specialists varied among the Down syndrome clinics we 
contacted and included health care professionals such as developmental 
pediatricians, nurse practitioners, and genetic counselors. 

[12] For the purposes of our study, we define Down syndrome advocacy 
groups as local organizations that have been established to help 
children with Down syndrome and their families. 

[13] For Down syndrome clinics identified an equal number of times, we 
considered the overall geographic diversity within our group of 
clinics to make our final selection. 

[14] For the purposes of our study, health care providers include 
primary care professionals, such as family practitioners and 
pediatricians, and other providers at a hospital, such as genetic 
counselors and social workers, who interact with the family upon a 
postnatal diagnosis. 

[15] Maternal and Child Health Bureau of the Health Resources and 
Services Administration, National Survey of Children with Special 
Health Care Needs, 2005-2006. The NS-CSHCN, a large-scale telephone 
survey sponsored by HRSA and conducted by the Centers for Disease 
Control and Prevention, defines children with special needs as those 
who have or are at risk for a chronic physical, developmental, 
behavioral, or emotional condition and who also require health and 
related services of a type or amount beyond that required for children 
generally. The NS-CSHCN provides information on the prevalence of 
children with special health care needs in the nation and in each 
state, the demographic characteristics of these children, the types of 
health and support services they and their families need, and their 
access to and satisfaction with the care they receive. 

[16] We included survey data for families with children through age 17 
to ensure a sufficient number of survey respondents. 

[17] Based on the sampling error, the NS-CSHCN-reported percentages 
are within plus or minus 11 points using a 90 percent confidence 
interval. 

[18] According to the Centers for Disease Control and Prevention, 
chromosomes are small "packages" of genes in the body. They determine 
how a baby's body forms during gestation and how, as the baby grows in 
the womb and after birth, the baby's body functions. Typically, a baby 
is born with 46 chromosomes. Babies born with Down syndrome have an 
extra copy of all or part of chromosome 21. 

[19] Down syndrome is typically associated with a degree of 
intellectual disability, usually ranging from mild to moderate. 

[20] S. Rasmussen et al., "Setting a Public Health Research Agenda for 
Down Syndrome: Summary of a Meeting Sponsored by the Centers for 
Disease Control and Prevention and the National Down Syndrome 
Society," American Journal of Medical Genetics Part A, vol. 146A, 
issue 23 (2008), 2998-3010. 

[21] Maternal and Child Health Bureau of the Health Resources and 
Services Administration, National Survey of Children with Special 
Health Care Needs, 2005-2006. 

[22] B. Skotko et al. for the Down Syndrome Diagnosis Study Group, 
"Postnatal Diagnosis of Down Syndrome: Synthesis of the Evidence on 
How Best to Deliver the News," Pediatrics, vol. 124, no. 4 (2009). 

[23] J. Ferguson et al., "Resident Physicians' Competencies and 
Attitudes in Delivering a Postnatal Diagnosis of Down Syndrome," 
Obstetrics and Gynecology, vol. 108, no. 4 (2006). 

[24] B. Skotko, "Mothers of Children with Down Syndrome Reflect on 
Their Postnatal Support," Pediatrics, vol. 115, no. 1 (2005). 

[25] Skotko et al., "Postnatal Diagnosis of Down Syndrome." 

[26] In November 2008, representatives from the following five 
organizations reached consensus that resources provided to parents of 
children with Down syndrome at the time of diagnosis should be 
complete, consistent, accurate, and up-to-date: the National Down 
Syndrome Society (NDSS), the National Down Syndrome Congress (NDSC), 
the American College of Medical Genetics (ACMG), the National Society 
of Genetic Counselors (NSGC), and the American College of 
Obstetricians and Gynecologists (ACOG). Since the consensus 
conversation, two of the representatives--from NDSS and NDSC--have 
collaborated with NSGC, ACMG, and ACOG representatives to develop 
"gold standard" packets of information for health care providers on 
how to deliver a prenatal and postnatal diagnosis, and a corresponding 
packet to be given to parents at the time of diagnosis. The prenatal 
packets were recently published, and the postnatal packet is currently 
under development. 

[27] The exact number of Down syndrome clinics in the United States is 
difficult to ascertain. However, NDSS lists contact information for 52 
Down syndrome clinics for children and adults across the country. 

[28] According to a physician at a Down syndrome clinic, it is 
recommended that children with Down syndrome visit a Down syndrome 
clinic three to four times in the first year of life, two times in the 
second year of life, and annually every year after that, if needed. 

[29] At the age of 3, children with disabilities transition to special 
education programs. 

[30] 20 U.S.C. § 1433. 

[31] GAO, Individuals with Disabilities Education Act: Education 
Should Provide Additional Guidance to Help States Smoothly Transition 
Children to Preschool, [hyperlink, 
http://www.gao.gov/products/GAO-06-26] (Washington, D.C.: Dec. 14, 
2005). 

[32] To obtain each of these averages, we calculated the ratios of 
services for children with Down syndrome compared to children without 
Down syndrome for each of the 5 years and averaged the ratios. 

[33] Outpatient care includes services received in facilities such as 
urgent care facilities, ambulatory surgical centers, and hospital 
emergency rooms. Office-based care includes services received in 
facilities such as physician offices, community health clinics, and 
school-based health clinics. Some services, such as therapy, can be 
provided in different types of facilities. For this analysis, we 
classified each service as outpatient care, office-based care, or 
inpatient care based on the type of facility in which it was provided. 

[34] The age ranges in our analysis are constructed so that, for 
example, "children under 1 year of age" includes all children from 
birth up to but not including their first birthday, and so on, with 
each range consisting of 1 full year. 

[35] It is likely that both groups of children received more office- 
based care than outpatient care because, in general, office-based care 
includes more routine services, such as office visits and 
vaccinations, while outpatient care includes less routine services, 
such as laboratory tests, surgical procedures, and emergency room 
visits. 

[36] Evaluation and management services refer to visits and 
consultations provided by physicians or other qualified health care 
professionals. Evaluation and management visits range from 
straightforward medical evaluations to highly complex patient 
evaluations and medical decision making. 

[37] Children with Down syndrome are more likely to have outpatient 
surgeries, such as surgeries to insert ear tubes, than children 
without. 

[38] This difference also appears in all other age groups. In addition 
to this specific thyroid-stimulating hormone blood test, children may 
have received other types of thyroid tests. 

[39] The majority of physical, occupational, and speech therapy 
services--which accounted for nearly 100 percent of therapy services 
received--occurred in outpatient and office-based settings. Less than 
15 percent occurred in other settings, such as the child's home. 

[40] While overall patterns of utilization are consistent between the 
private health insurance company and Medicaid, more detailed 
comparisons of the data, such as a more detailed comparison of therapy 
services, cannot be made because of differences in insurance coverage 
as well as differences in how services are recorded and accounted for. 

[41] Inpatient care includes services received in residential health 
care facilities, such as hospitals. 

[42] To obtain each of these averages, we calculated the ratios of 
services for children with Down syndrome compared to children without 
Down syndrome for each of the 5 years and averaged the ratios. 

[43] Children with Down syndrome may be hospitalized for longer 
periods in their first year of life for reasons such as additional 
screening tests or complex surgeries (such as heart surgery). 

[44] We determined the types of hospitalizations based on the 
diagnosis-related group (DRG) associated with each hospitalization. 
DRGs are a system for classifying hospital stays based on diagnosis 
and procedures. Because of a change in DRG coding for 2008, our 
analysis included DRG data from 2001 through 2007. 

[45] The percentage of children hospitalized under this 
hospitalization type does not represent all the cardiac-related 
hospitalizations that could have occurred. 

[46] While overall patterns of utilization are consistent between the 
private health insurance company and Medicaid, more detailed 
comparisons of the data cannot be made because of differences in 
insurance coverage as well as differences in how services are recorded 
and accounted for. 

[47] Expenditure data were adjusted to 2008 dollars and include the 
amount paid by the primary insurance company, the deductible, 
coinsurance, and the amount paid by secondary insurance. 

[48] To obtain this average, we calculated the ratios of services for 
children with Down syndrome compared to children without Down syndrome 
for each of the 5 years and averaged the ratios. 

[49] There are two sets of health care guidelines available to help 
primary care physicians manage the medical care of children with Down 
syndrome--the American Academy of Pediatrics guidelines and the Down 
Syndrome Medical Interest Group guidelines. These serve as a resource 
for primary care physicians by outlining screenings that should occur 
and resources that should be shared with families at key points in a 
child's life. In addition, the guidelines indicate when primary care 
physicians should refer patients to specialists, if needed. 

[50] For the remaining 2 of the 32 recommended resources, half of the 
12 advocacy groups reported that the resource was likely to be 
received, and the other half reported that the resource was less 
likely to be received. 

[51] Hypothyroidism is a condition in which the thyroid gland does not 
produce enough thyroid hormone. 

[52] However, some of these groups noted that they did not have the 
resources to meet the needs of families who spoke languages other than 
Spanish. 

[53] We analyzed fee-for-service claims for services provided in 2007; 
however, because of coverage variations within and across states, not 
all services may be covered by fee-for-service plans across all states. 

[End of section] 

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