Mikyong Shin

Prevalence of Down Syndrome Among Children and Adolescents in 10 Regions of the United States

OBJECTIVE: We aimed to estimate the prevalence of Down syndrome (DS) among children and adolescents aged 0 to 19 years in 10 regions of the United States. METHODS: This study was a cross-sectional analysis of live-born infants with DS during 1979–2003 from 10 population-based birth defects registries in the United States. We estimated the prevalence of DS at birth and among children aged 0 to 19 years in each region and in all regions pooled. The prevalence of DS among children and adolescents was calculated overall and according to age group, race/ethnicity, infant gender, and presence of a major heart defect. RESULTS: From 1979 through 2003, the prevalence of DS at birth increased by 31.1%, from 9.0 to 11.8 per 10000 live births in 10 US regions. In 2002, the prevalence among children and adolescents (0–19 years old) was 10.3 per 10000. The prevalence of DS among children in a given age group consistently increased over time but decreased with age within a given birth cohort. The pooled prevalence of DS among children and adolescents was lower among non-Hispanic black individuals and other racial/ethnic groups compared with non-Hispanic white individuals; it was also lower among females than males. CONCLUSIONS: This study provides prevalence estimates of DS among children and adolescents from 10 US regions. These estimates varied according to region, race/ethnicity, and gender, suggesting possible variation in prevalence at birth or in survival rates on the basis of these characteristics.

Temporal trends in survival among infants with critical congenital heart defects.

OBJECTIVE: To evaluate the trends in survival for infants with critical congenital heart defects (CCHDs) and to examine the potential impact of timing of diagnosis and other prognostic factors on survival. METHODS: We performed a retrospective population-based cohort study in infants born with structural congenital heart defects (CHDs) between 1979 and 2005 and ascertained by the Metropolitan Atlanta Congenital Defects Program. We estimated Kaplan-Meier survival probabilities for 12 CCHD phenotypes by birth era and timing of diagnosis among infants without noncardiac defects or chromosomal disorders and used stratified Cox proportional hazards models to assess potential prognostic factors. RESULTS: Of 1 056 541 births, there were 6965 infants with CHDs (1830 with CCHDs). One-year survival was 75.2% for those with CCHDs (n = 1336) vs 97.1% for those with noncritical CHDs (n = 3530; P < .001). One-year survival for infants with CCHDs improved from 67.4% for the 1979–1993 birth era to 82.5% for the 1994–2005 era (P < .001). One-year survival was 71.7% for infants with CCHDs diagnosed at ≤1 day of age (n = 890) vs 82.5% for those with CCHDs diagnosed at >1 day of age (n = 405; P < .001). There was a significantly higher risk of 1-year mortality for infants with an earlier birth era, earlier diagnosis, and low birth weight and whose mothers were <30 years old. CONCLUSIONS: One-year survival for infants with CCHDs has been improving over time, yet mortality remains high. Later diagnosis is associated with improved 1-year survival. These benchmark data and identified prognostic factors may aid future evaluations of the impact of pulse oximetry screening on survival from CCHDs.

The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study

We aimed to assess the frequency of chromosomal abnormalities among infants with congenital heart defects (CHDs) in an analysis of population-based surveillance data. We reviewed data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth-defects surveillance system, to assess the frequency of chromosomal abnormalities among live-born infants and fetal deaths with CHDs delivered from January 1, 1994, to December 31, 2005. Among 4430 infants with CHDs, 547 (12.3%) had a chromosomal abnormality. CHDs most likely to be associated with a chromosomal abnormality were interrupted aortic arch (type B and not otherwise specified; 69.2%), atrioventricular septal defect (67.2%), and double-outlet right ventricle (33.3%). The most common chromosomal abnormalities observed were trisomy 21 (52.8%), trisomy 18 (12.8%), 22q11.2 deletion (12.2%), and trisomy 13 (5.7%). In conclusion, in our study, approximately 1 in 8 infants with a CHD had a chromosomal abnormality. Clinicians should have a low threshold at which to obtain testing for chromosomal abnormalities in infants with CHDs, especially those with certain types of CHDs. Use of new technologies that have become recently available (e.g., chromosomal microarray) may increase the identified contribution of chromosomal abnormalities even further.

Prevalence of Spina Bifida Among Children and Adolescents in 10 Regions in the United States

OBJECTIVE: The goal was to estimate the number of children and adolescents, 0 to 19 years of age, living with spina bifida (SB) in the United States. METHODS: A retrospective study was conducted by using population-based, birth defect surveillance data from 10 US regions, with vital status ascertainment. Birth defect surveillance data were obtained from Arkansas, Georgia (5 central counties of metropolitan Atlanta), California (11 counties), Colorado, Iowa, New York (New York City excluded), North Carolina, Oklahoma, Texas, and Utah. We estimated the numbers of children 0 to 19 years of age who were living with SB in the 10 US regions in 2002, according to age group, race/ethnicity, and gender, and examined a long-term trend in the prevalence of SB among children 0 to 11 years of age in 1991–2002. RESULTS: The overall prevalence of SB among children and adolescents 0 to 19 years of age in the study regions was 3.1 cases per 10000 in 2002. The prevalence of SB among children was lower among male and non-Hispanic black children. CONCLUSIONS: The prevalence estimates of SB among children and adolescents varied according to region, race/ethnicity, and gender, which suggests possible variations in prevalence at birth and/or inequities in survival rates. Additional studies are warranted to elucidate the reasons for these variations and to derive prevalence estimates of SB among adults.

Trends in Survival Among Children With Down Syndrome in 10 Regions of the United States

OBJECTIVE: This study examined changes in survival among children with Down syndrome (DS) by race/ethnicity in 10 regions of the United States. A retrospective cohort study was conducted on 16 506 infants with DS delivered during 1983–2003 and identified by 10 US birth defects monitoring programs. Kaplan-Meier survival probabilities were estimated by select demographic and clinical characteristics. Adjusted hazard ratios (aHR) were estimated for maternal and infant characteristics by using Cox proportional hazard models. RESULTS: The overall 1-month and 1-, 5-, and 20-year survival probabilities were 98%, 93%, 91%, and 88%, respectively. Over the study period, neonatal survival did not improve appreciably, but survival at all other ages improved modestly. Infants of very low birth weight had 24 times the risk of dying in the neonatal period compared with infants of normal birth weight (aHR 23.8; 95% confidence interval [CI] 18.4–30.7). Presence of a heart defect increased the risk of death in the postneonatal period nearly fivefold (aHR 4.6; 95% CI 3.9–5.4) and continued to be one of the most significant predictors of mortality through to age 20. The postneonatal aHR among non-Hispanic blacks was 1.4 (95% CI 1.2–1.8) compared with non-Hispanic whites and remained elevated by age 10 (2.0; 95% CI 1.0–4.0). CONCLUSIONS: The survival of children born with DS has improved and racial disparities in infant survival have narrowed. However, compared with non-Hispanic white children, non-Hispanic black children have lower survival beyond infancy. Congenital heart defects are a significant risk factor for mortality through age twenty.

Effects of nurse navigators on health outcomes of cancer patients.

Background: Care coordination has received increased attention in recent years because it critically affects patient safety and care quality across services and settings. Objective: The effectiveness of systematically developed nurse navigator interventions for newly diagnosed cancer patients was evaluated. Methods: Seventy-eight patients participated in a nonequivalent control group pretest-posttest design study. The study design spanned a 3-month period for all participants. Patient outcome measures included quality of life, satisfaction with care, and length of hospital stay. Results: Participants in the experimental program reported significant increases in several components of quality of life and with satisfaction with care and experienced fewer hospital stay days compared with the control group. Conclusion: This study provides evidence that standardized nurse navigator programs can improve patient outcomes in cancer care. Implications for Practice: Positive outcomes of the reduced length of stay and improved quality of life and patient satisfaction may help transform the cancer care delivery model toward more nurse-initiated cost-effective model.

Improved Survival Among Children with Spina Bifida in the United States

OBJECTIVE To evaluate trends in survival among children with spina bifida by race/ethnicity and possible prognostic factors in 10 regions of the United States. STUDY DESIGN A retrospective cohort study was conducted of 5165 infants with spina bifida born during 1979-2003, identified by 10 birth defects registries in the United States. Survival probabilities and adjusted hazard ratios were estimated for race/ethnicity and other characteristics using the Cox proportional hazard model. RESULTS During the study period, the 1-year survival probability among infants with spina bifida showed improvements for whites (from 88% to 96%), blacks (from 79% to 88%), and Hispanics (from 88% to 93%). The impact of race/ethnicity on survival varied by birth weight, which was the strongest predictor of survival through age 8. There was little racial/ethnic variation in survival among children born of very low birth weight. Among children born of low birth weight, the increased risk of mortality to Hispanics was approximately 4-6 times that of whites. The black-white disparity was greatest among children born of normal birth weight. Congenital heart defects did not affect the risk of mortality among very low birth weight children but increased the risk of mortality 4-fold among children born of normal birth weight. CONCLUSIONS The survival of infants born with spina bifida has improved; however, improvements in survival varied by race/ethnicity, and blacks and Hispanics continued to have poorer survival than whites in the most recent birth cohort from 1998-2002. Further studies are warranted to elucidate possible reasons for the observed differences in survival.

Survival of children with mosaic Down syndrome

In contrast with the majority of children with Down syndrome (DS) that have a full trisomy 21 in every cell [Gardner and Sutherland, 2004; Sherman et al., 2007], children with trisomy 21 mosaicism (herein referred to as mosaic DS) exhibit considerable variation in the proportion of cells with trisomy 21, both as a whole and among tissues [Sherman et al., 2007; Ringman et al., 2008]. The clinical characteristics of children with mosaic DS are generally milder compared with those of children with non-mosaic DS, as reflected by a lower frequency of clinical diagnosis at birth for children with mosaic DS (37.5%) compared with non-mosaic DS (90–100%) [Devlin and Morrison, 2004a]. Whether this variability in phenotypes for children with mosaic DS translates into a higher survival experience than that reported for children with non-mosaic DS is unclear. We obtained data on 6,300 cytogenetically confirmed livebirths with DS born during 1993–2003 from seven U.S. populationbased birth defects registries and verified vital status through December 31, 2004 using medical records, state vital records, and the National Death Index. All registries used a 6-digit International Classification of Diseases, 9th Revision, Clinical Modification or the modified codes from the British Paediatric Association Classification of Diseases; however, the period of ascertainment varied among registries, from 1 to 6 years of age [National Birth Defects Prevention Network, 2008]. We estimated the survival probability among children with mosaic DS and compared survival rates among those with and those without major congenital heart defects (CHD) using the Kaplan–Meier method and the log-rank test. Among the 6,300 infants with DS in the study, 94.8% had full trisomy 21, 3.3% translocation, and 1.9% mosaic DS. Children with mosaic DS had a significantly lower prevalence of major CHD (36.4%) than children with non-mosaic DS (49.3%) (P1⁄4 0.0047). The 1and 5-year survival rates for children with mosaic DS were 97.5% and 95.7%, respectively. Among children with mosaic DS, overall survival appeared to be better for children without CHDs (97.4%) than for children with CHD (91.8%), but this difference was not statistically significant (Fig. 1). The observed survival rate for children with mosaic DS was higher than that reported previously for children with non-mosaic DS (93% for 1-year and 89% for 10-year survival) [Rasmussen et al., 2006]. Among children with mosaic DS, there was a suggestion of better survival for children without CHD than for children with CHD; however, this difference was not statistically significant and warrants corroboration in larger studies. Our study represents one of the first population-based estimates of survival based on a large number of children with mosaic DS in the United States, and verification of vital status from three comprehensive sources. One limitation of our study was that it was based on surveillance data for children with mosaic DS confirmed with cytogenetic test results but diagnosed mainly in the first few years of life. This approach probably resulted in an underestimation of the true prevalence of mosaic DS among older children, particularly as it excluded cases with no cytogenetic test confirmation or diagnosed at older ages. Our observed proportion of mosaic DS (1.9%) among live births with DS was lower than that reported in a previous study (about 4%) [Devlin and Morrison, 2004b], probably reflecting differences in the level of inclusion of cases among older children, adolescents, and adults. If children with mosaic DS who are diagnosed at older ages (e.g., those with low-level mosaicism detected through microarray tests of varied tissue samples) have a better survival than children diagnosed at younger ages, this type of selection bias might have resulted in an

Sensitivity of birth certificate reports of birth defects in Atlanta, 1995-2005: effects of maternal, infant, and hospital characteristics.

Objectives. We assessed variations in the sensitivity of birth defect diagnoses derived from birth certificate data by maternal, infant, and hospital characteristics. Methods. We compared birth certificate data for 1995–2005 births in Atlanta with data from the Metropolitan Atlanta Congenital Defects Program (MACDP). We calculated the sensitivity of birth certificates for reporting defects often discernable at birth (e.g., anencephaly, spina bifida, cleft lip, clubfoot, Down syndrome, and rectal atresia or stenosis). We used multivariable logistic regression models to examine associations with sociodemographic and hospital factors. Results. The overall sensitivity of birth certificates was 23% and ranged from 7% for rectal atresia/stenosis to 69% for anencephaly. Non-Hispanic black maternal race/ethnicity, less than a high school education, and preterm birth were independently associated with a lower probability of a birth defect diagnosis being reported on a birth certificate. Sensitivity also was lower for hospitals with >1,000 births per year. Conclusions. The underreporting of birth defects on birth certificates is influenced by sociodemographic and hospital characteristics. Interpretation of birth defects prevalence estimates derived from birth certificate reports should take these issues into account.

Understanding attitudes toward people with Down syndrome

Understanding attitudes of the public toward people with Down syndrome is important because negative attitudes might create barriers to social integration, which can affect their success and quality of life. We used data from two 2008 U.S. surveys (HealthStyles© survey of adults 18 years or older and YouthStyles© survey of youth ages 9–18) that asked about attitudes toward people with Down syndrome, including attitudes toward educational and occupational inclusion and toward willingness to interact with people with Down syndrome. Results showed that many adults continue to hold negative attitudes toward people with Down syndrome: A quarter of respondents agreed that students with Down syndrome should go to special schools, nearly 30% agreed that including students with Down syndrome in typical educational settings is distracting, and 18% agreed that persons with Down syndrome in the workplace increase the chance for accidents. Negative attitudes were also held by many youth: 30% agreed that students with Down syndrome should go to separate schools, 27% were not willing to work with a student with Down syndrome on a class project, and nearly 40% indicated they would not be willing to spend time with a student with Down syndrome outside of school. Among both adult and youth, female sex and respondents with previous relationships with people with Down syndrome were consistently associated with more positive attitudes. These results may be helpful in the development of educational materials about Down syndrome and in guiding policies on educational and occupational inclusion. Published 2010 Wiley‐Liss, Inc.