Children with Down Syndrome: Families Are More Likely to Receive Resources at Time of Diagnosis Than in Early Childhood
Released: 2010-10-08T00:00:00

Letter

Background

Overview of Down Syndrome

Down syndrome is most frequently caused by a chromosomal error that produces an extra copy of chromosome 21. The extra chromosomal material causes children with Down syndrome to have mental 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.

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. 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. 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.

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. 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. Another study found that families received some information from health care providers that they perceived as vague, inaccurate, or outdated. Although there are studies such as these and other initiatives 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. 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. 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.

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. administered by state-level agencies—beginning at birth and continuing until the age of 3. 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. 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. 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, according to our analysis of data from a private health insurance company. For children under 1 year of age, 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. 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 fig. 1.)

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 fig. 2.) For example, for both outpatient and office- based services, children with Down syndrome had more evaluation and management services, 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.

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. 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. 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 fig. 3.)

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. 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 app. 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 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. 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. 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.

Our review of inpatient claims data showed some differences in the types of hospitalizations for children with Down syndrome compared to other children. 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. 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. 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 app. 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 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; however, both total expenditures and the difference in expenditures decreased substantially by the time children with Down syndrome were 3 years of age. (See fig. 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.

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 and information about the causes of Down syndrome and the effect of Down syndrome on the family and caregivers.

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—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.

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.

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. 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 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.

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. Children with Down syndrome had more outpatient and office-based services than children without Down syndrome in each state we reviewed. (See fig. 7.) In addition, children with Down syndrome generally had more hospitalizations and a longer average length of stay than children without Down syndrome. (See figs. 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 fig. 10.)

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

Appendix III: GAO Contact and Staff Acknowledgments

GAO Contact

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.