RESUMO
OBJECTIVE: To assess whether the severity of cases of spina bifida changed after the institution of mandatory folic acid fortification in the US. STUDY DESIGN: Six active population-based birth defects programs provided data on cases of spina bifida for 1992-1996 (prefortification period) and 1999-2016 (postfortification period). The programs contributed varying years of data. Case information included both a medical record verbatim text description of the spina bifida diagnosis and spina bifida codes (International Classification of Diseases, Clinical Modification, or a modified birth defects surveillance coding system). Comparing the prefortification and postfortification periods, aORs for case severity (upper-level lesions [cervical, thoracic] vs lower-level lesions [lumbar, sacral]) and prevalence ratios (PRs) were estimated. RESULTS: A total of 2593 cases of spina bifida (out of 7 816 062 live births) met the inclusion criteria, including 573 cases from the prefortification period and 2020 cases from the postfortification period. Case severity decreased by 70% (aOR, 0.30; 95% CI, 0.26-0.35) between the fortification periods. The decrease was most pronounced for non-Hispanic White mothers. Overall spina bifida prevalence declined by 23% (PR, 0.77; 95% CI, 0.71-0.85), with similar reductions seen across the early, mid, and recent postfortification periods. A statistically significant decrease in upper-level lesions occurred in the postfortification period compared with the prefortification period (PR, 0.28; 95% CI, 0.22-0.34), whereas the prevalence of lower-level lesions remained relatively similar (PR, 0.94; 95% CI, 0.84-1.05). CONCLUSIONS: The severity of spina bifida cases decreased after mandatory folic acid fortification in the US. Further examination is warranted to better understand the potential effect of folic acid on spina bifida severity.
Assuntos
Ácido Fólico , Disrafismo Espinal , Feminino , Ácido Fólico/uso terapêutico , Alimentos Fortificados , Humanos , Nascido Vivo , Gravidez , Prevalência , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/prevenção & controleRESUMO
OBJECTIVE: To investigate the extent to which children with birth defects experience differential likelihood of various injuries and injury-related hospitalizations in early childhood. STUDY DESIGN: The Florida Birth Defects Registry was used to identify infants born 2006-2010 with select birth defects. Injury matrices were used to detect injuries in inpatient, ambulatory, and emergency department admissions for each infant up to their third birthday. χ2tests were used to compare sociodemographic and perinatal characteristics of children, by presence of an injury-related hospital admission. Adjusted multivariable logistic and zero-inflated negative binomial regression models were used to investigate birth defect and injury associations and related hospital use. RESULTS: We observed a 21% (99% CI: 1.16-1.27) increased odds of injury in children with birth defects. All birth defect subgroups had a statistically significantly increased odds of injury (excluding chromosomal defects), with adjusted ORs ranging from 1.19 to 1.40. The combination of birth defects and injuries resulted in 40% (99% CI: 1.36-1.44) more frequent injury-related hospital visits and a 3-fold (99% CI: 2.76-2.96) increase in time spent receiving inpatient medical care. Over 30% of children with critical congenital heart defects had an injury-related hospital admission. CONCLUSIONS: Children born with specific birth defects are at increased likelihood of various injuries during early life. Although the magnitude of this increased likelihood varied by the mechanism by which the injury occurred, the location of the injury, and the type of birth defect, our study findings support a direct association between birth defects and injuries in early life.
Assuntos
Anormalidades Congênitas/epidemiologia , Ferimentos e Lesões/epidemiologia , Criança , Pré-Escolar , Feminino , Florida , Hospitalização , Humanos , Lactente , Recém-Nascido , Masculino , Sistema de Registros , Medição de Risco , Fatores de RiscoAssuntos
Microcefalia/diagnóstico , Microcefalia/epidemiologia , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Infecção por Zika virus/complicações , Brasil/epidemiologia , Europa (Continente)/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Microcefalia/virologia , Vigilância da População , Gravidez , Complicações Infecciosas na Gravidez/virologia , Estados Unidos/epidemiologia , Zika virusRESUMO
OBJECTIVES: To examine racial/ethnic-specific survival of children with major birth defects in the US. STUDY DESIGN: We pooled data on live births delivered during 1999-2007 with any of 21 birth defects from 12 population-based birth defects surveillance programs. We used the Kaplan-Meier method to calculate cumulative survival probabilities and Cox proportional hazards models to estimate mortality risk. RESULTS: For most birth defects, there were small-to-moderate differences in neonatal (<28 days) survival among racial/ethnic groups. However, compared with children born to non-Hispanic white mothers, postneonatal infant (28 days to <1 year) mortality risk was significantly greater among children born to non-Hispanic black mothers for 13 of 21 defects (hazard ratios [HRs] 1.3-2.8) and among children born to Hispanic mothers for 10 of 21 defects (HRs 1.3-1.7). Compared with children born to non-Hispanic white mothers, a significantly increased childhood (≤ 8 years) mortality risk was found among children born to Asian/Pacific Islander mothers for encephalocele (HR 2.6), tetralogy of Fallot, and atrioventricular septal defect (HRs 1.6-1.8) and among children born to American Indian/Alaska Native mothers for encephalocele (HR 2.8), whereas a significantly decreased childhood mortality risk was found among children born to Asian/Pacific Islander mothers for cleft lip with or without cleft palate (HR 0.6). CONCLUSION: Children with birth defects born to non-Hispanic black and Hispanic mothers carry a greater risk of mortality well into childhood, especially children with congenital heart defect. Understanding survival differences among racial/ethnic groups provides important information for policy development and service planning.
Assuntos
Anormalidades Congênitas/etnologia , Etnicidade , Vigilância da População , Medição de Risco/métodos , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida/tendências , Estados Unidos/epidemiologiaRESUMO
OBJECTIVE: To investigate the existence of racial/ethnic disparity in mortality risk among children with individual congenital heart defects and identify any other risk factors. STUDY DESIGN: The study cohort, comprising children born between 1983 and 2006 with a selected congenital heart defect, was matched to death records to ascertain vital status. The birth and maternal risk factors were obtained from birth certificates. RESULTS: After adjusting for covariates using a multivariate regression model, the risk of mortality was significantly higher in children of non-Hispanic black mothers with transposition of the great arteries (hazard ratio (HR), 1.31; 95% CI, 1.07-1.60), tetralogy of Fallot (HR, 1.34; 95% CI, 1.06-1.69), and coarctation of the aorta (HR, 1.40; 95% CI, 1.10-1.79), compared with children of non-Hispanic white mothers. Time trends analysis examining the mortality risk by survival age and birth period found a significant decrease in 5-year mortality risk from 1983 to 2003 births, with a nearly 50% reduction for hypoplastic left heart syndrome and coarctation of the aorta across 3 maternal racial/ethnic groups examined. CONCLUSION: Our findings may help identify at-risk populations and mortality risk factors and thereby contribute to improved survival and quality of life for these children across the lifespan.
Assuntos
Cardiopatias Congênitas/etnologia , Mães , Adolescente , Adulto , Negro ou Afro-Americano , Coartação Aórtica/etnologia , Criança , Pré-Escolar , Estudos de Coortes , Suscetibilidade a Doenças , Feminino , Cardiopatias Congênitas/mortalidade , Hispânico ou Latino , Humanos , Lactente , Recém-Nascido , Masculino , Análise Multivariada , Modelos de Riscos Proporcionais , Fatores de Risco , Transposição dos Grandes Vasos/etnologia , Resultado do Tratamento , População Branca , Adulto JovemRESUMO
OBJECTIVE: To analyze survival patterns among infants with hypoplastic left heart syndrome (HLHS) in the State of Michigan. STUDY DESIGN: Cases of HLHS prevalent at live birth were identified and confirmed within the Michigan Birth Defects Registry from 1992 to 2005 (n=406). Characteristics of infants with HLHS were compared with a 10:1 random control sample. RESULTS: Compared with 4060 control subjects, the 406 cases of HLHS were more frequently male (62.6% vs 51.4%), born prematurely (<37 weeks gestation; 15.3% vs 8.7%), and born at low birth weight (LBW) (<2.5 kg; 16.0% vs 6.6%). HLHS 1-year survival rate improved over the study period (P=.041). Chromosomal abnormalities, LBW, premature birth, and living in a high poverty neighborhood were significantly associated with death. Controlling for neighborhood poverty, term infants versus preterm with HLHS or LBW were 3.2 times (95% CI: 1.9-5.3; P<.001) more likely to survive at least 1 year. Controlling for age and weight, infants from low-poverty versus high-poverty areas were 1.8 times (95% CI: 1.1-2.8; P=.015) more likely to survive at least 1 year. CONCLUSIONS: Among infants with HLHS in Michigan, those who were premature, LBW, had chromosomal abnormalities, or lived in a high-poverty area were at increased risk for early death.
Assuntos
Síndrome do Coração Esquerdo Hipoplásico/mortalidade , Estudos de Casos e Controles , Aberrações Cromossômicas/estatística & dados numéricos , Feminino , Humanos , Lactente , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Modelos Lineares , Masculino , Michigan/epidemiologia , Transferência de Pacientes , Pobreza , Nascimento Prematuro , Sistema de Registros , Distribuição por SexoRESUMO
OBJECTIVE: To determine longevity in Rett syndrome (RTT) from a large cohort. STUDY DESIGN: The North American RTT Database allows the examination of longevity in a large cohort of individuals with RTT from the United States and Canada. This database contains information on 1928 individuals, 85.5% with typical RTT, 13.4% with atypical RTT, and 1.1% with a mutation in the methyl-CpG-binding protein 2 gene (MECP2) but not RTT. Kaplan-Meier analyses were performed to assess longevity. RESULTS: Earlier decennial cohorts exhibited better survival than recent cohorts, with most participants surviving into middle age. Comparing overall survival in persons with typical RTT and atypical RTT revealed greater mortality in typical RTT across the observed lifespan (P < .0001). Comparing survival in persons with RTT and identified MECP2 mutations and persons with unknown MECP2 status demonstrated greater mortality in the latter group (P < .0001, log-rank test). CONCLUSIONS: This analysis provides strong evidence for significant longevity in RTT and indicates the need for careful planning for long-term care of these women. The disproportionately greater survival seen in earlier time periods and in persons with atypical RTT may be attributed to more severely affected individuals dying before diagnosis in the former and to greater numbers with milder variants (ie, preserved speech and delayed onset) in the latter.
Assuntos
Síndrome de Rett/mortalidade , Humanos , Estimativa de Kaplan-Meier , Proteína 2 de Ligação a Metil-CpG/genética , Mortalidade/tendências , América do Norte/epidemiologia , Síndrome de Rett/genéticaRESUMO
OBJECTIVE: To clarify the association between childhood pregnancy and risk of stillbirth. STUDY DESIGN: We analyzed singleton and twin pregnancies that occurred in children (10-14 years old) in the United States from 1989 to 2000. We estimated the absolute and relative risks of stillbirth by using 15- to19-year-old and 20- to 24-year-old mothers as comparison groups. RESULTS: The analysis involved 17.8 million singletons and 337,904 individual twins. The rate of stillbirth was highest in pediatric mothers for both singletons (12.8/1000) and twins (56/1000) compared with adolescent (6.8/1000 in singletons and 29/1000 in twins) and mature (5.5/1000 in singletons and 20/1000 in twins) mothers. After adjusting for confounding characteristics, pediatric mothers continued to exhibit significantly elevated risk for stillbirth in both singletons (odds ratio, 1.57; 95%CI, 1.49-1.66) and twins (odds ratio, 1.97; 95%CI, 1.42-2.73). Preterm birth rather than small size for gestational age was revealed by means of sequential modeling to account for the excess risk of stillbirth observed in pediatric gravidas. CONCLUSION: Pregnancy in childhood is a risk factor for stillbirth; shortened gestation rather than reduction in fetal growth is the mediating pathway.
Assuntos
Gravidez na Adolescência , Natimorto/epidemiologia , Gêmeos , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Humanos , Modelos Logísticos , Análise por Pareamento , Análise Multivariada , Gravidez , Gravidez na Adolescência/etnologia , Gravidez de Alto Risco/etnologia , Risco , Fatores Socioeconômicos , Natimorto/etnologia , Gêmeos/etnologia , Estados Unidos/epidemiologiaRESUMO
OBJECTIVE: In an effort to reduce the occurrence of neural tube defects (NTDs), folic acid fortification of US enriched grain products was authorized by the Food and Drug Administration in March 1996 and required by January 1998. Fortification has been shown to result in an important decline in the prevalence of spina bifida and anencephaly in the general US population; however, fortification's impact on specific racial/ethnic groups has not been well described. We sought to characterize the decline in the prevalence of spina bifida and anencephaly among specific racial/ethnic groups during the transition to mandatory folic acid fortification in the United States. METHODS: Data from 21 population-based birth defects surveillance systems were used to examine trends in prevalence of spina bifida and anencephaly for specific racial/ethnic groups for the years 1995-2002. These years were divided into 3 periods: prefortification, optional fortification, and mandatory fortification. Race/ethnicity was defined as Hispanic, non-Hispanic white, and non-Hispanic black. Prevalence ratios were calculated for each racial/ethnic group by dividing the prevalence from the mandatory fortification period by the prevalence in the prefortification period. RESULTS: The study included data on 4468 cases of spina bifida and 2625 cases of anencephaly. The prevalence of spina bifida and anencephaly was highest among Hispanic births, followed by non-Hispanic white births, with the lowest prevalence among non-Hispanic black births. Significant declines in spina bifida and anencephaly were observed among Hispanic births and non-Hispanic white births. The prevalence ratio for non-Hispanic black births was of borderline significance for spina bifida and was not significant for anencephaly. CONCLUSIONS: The results of this study suggest that folic acid fortification is associated with significant decreases in the prevalence of spina bifida and anencephaly among non-Hispanic white and Hispanic births. The magnitude of the reduction was similar between these 2 groups and was more pronounced for spina bifida than for anencephaly. The decline in the prevalence of spina bifida and anencephaly among non-Hispanic black births did not reach statistical significance. Efforts to increase folic acid consumption for the prevention of NTDs in pregnancies among women of all races/ethnicities should be continued, and studies to identify and elucidate other risk factors for NTDs are warranted.
Assuntos
Anencefalia/etnologia , Etnicidade/estatística & dados numéricos , Grupos Raciais/estatística & dados numéricos , Disrafismo Espinal/etnologia , Anencefalia/epidemiologia , População Negra/estatística & dados numéricos , Feminino , Ácido Fólico/administração & dosagem , Alimentos Fortificados , Hispânico ou Latino/estatística & dados numéricos , Humanos , Gravidez , Cuidado Pré-Natal , Prevalência , Porto Rico/epidemiologia , Disrafismo Espinal/epidemiologia , Estados Unidos/epidemiologia , População Branca/estatística & dados numéricosRESUMO
OBJECTIVES: To study the role of protein sufficiency, age, calorie sufficiency, and phenylalanine levels in children with phenylketonuria (PKU) and determine how these affect linear growth. METHODS: Age, growth measures, plasma prealbumin, and mean phenylalanine levels were analyzed from a chart review of 38 children with early and continuously treated PKU. RESULTS: A regression model was calculated investigating the effects of prealbumin, age, body mass index, and mean phenylalanine level on height. In this model, plasma prealbumin of <20 was associated with a loss of 45 height percentiles, whereas age and body mass index also had smaller but statistically significant effects. Prealbumin was correlated with height and age such that children with lower prealbumin levels were shorter and younger. There was no significant correlation between age and height or mean plasma phenylalanine level and height. A prealbumin level of 20 mg/dL appeared to constitute a threshold level, below which height growth was very significantly impaired. CONCLUSIONS: There is a strong relation between protein insufficiency, as determined by plasma prealbumin levels, and linear growth impairment. We suggest that a plasma prealbumin level of at least 20 mg/dL is necessary for optimal growth in children with PKU.