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The article discusses a study by M. Diener and colleagues, published within the issue on the experience with targeted screening for congenital cytomegalovirus (cCMV) in Utah among infants who do not pass newborn hearing screening (NBHS). Topics include the benefits of targeted screening, the potential of universal screening of newborns for cCMV to increase detection of symptomatic infections, and controversial aspect of targeted screening in Utah.

In response to published newborn-screening data that have shown an increase in the incidence (birth prevalence) rate of primary congenital hypothyroidism (CH) in the United States, a workshop was held in Atlanta, Georgia, on February 27 and 28, 2008, to examine this issue. Topics of the meeting included pathophysiology, medical management, and follow-up of CH; transient hypothyroidism (etiology, clinical implications, management, and changes in prevalence); risk factors for CH; laboratory approaches to newborn screening for CH; state-specific evaluations of trends in incidence rates of CH; and concluding discussions on future directions to resolve outstanding issues. Through presentations and discussion, gaps in knowledge were identified, such as the lack of consistent definitions for CH and transient hypothyroidism and the effects of preventable risk factors on incidence rates of CH. One outcome of the meeting was a series of accompanying articles that examined (1) trends in the incidence rates of CH in individual states and nationally, (2) effects of newborn-screening practices on CH-incidence rates, (3) the contribution of transient hypothyroidism to CH-incidence rates, and (4) future research directions. In this summary, we briefly touch on the topics of these articles and examine highlights of other presentations from the workshop that illuminated the secular trends in reported CH-incidence rates in the United States. [ABSTRACT FROM AUTHOR]

Approaches to providing comprehensive coordinated care for individuals with complex diseases include the medical home approach, the chronic care model in primary care, and disease-specific, multidisciplinary specialty clinics. There is uneven availability and utilization of multidisciplinary specialty clinics for different genetic diseases. For 2 disorders (ie, hemophilia and cystic fibrosis), effective national networks of specialty clinics exist and reach large proportions of the target populations. For other disorders, notably, sickle cell disease, fewer such centers are available, centers are less likely to be networked, and centers are used less widely. Models of comanagement are essential for promoting ongoing communication and coordination between primary care and subspecialty services, particularly during the transition from pediatric care to adult care. Evaluation of the effectiveness of different models in improving outcomes for individuals with genetic diseases is essential. [ABSTRACT FROM AUTHOR]

Argues that the selection of disorders for population-based newborn screening should follow the standards of evidence-based public health. Opinion on a report from the American College of Medical Genetics; History of newborn screening; Changes in the criteria for newborn screening; Challenges associated with the efforts to expand screening panels.

OBJECTIVE: To examine the association between congenital cytomegalovirus (cCMV) and autism spectrum disorder (ASD) administrative diagnoses in US children. METHODS: Cohort study using 2014 to 2020 Medicaid claims data.We used diagnosis codes to identify cCMV (exposure), ASD (outcome), and covariates among children enrolled from birth through ≥4 to <7 years. Covariates include central nervous system (CNS) anomaly or injury diagnosis codes, including brain anomaly, microcephaly within 45 days of birth, cerebral palsy, epilepsy, or chorioretinitis. We used Cox proportional hazards regression models to estimate hazard ratios and 95% confidence intervals, overall and stratified by sex, birth weight and gestational age outcome (low birth weight or preterm birth), and presence of CNS anomaly or injury. RESULTS: Among 2 989 659 children, we identified 1044 (3.5 per 10 000) children with cCMV and 74 872 (25.0 per 1000) children with ASD. Of those with cCMV, 49% also had CNS anomaly or injury diagnosis codes. Children with cCMV were more likely to have ASD diagnoses (hazard ratio: 2.5; 95% confidence interval: 2.0-3.2, adjusting for birth year, sex, and region). This association differed by sex and absence of CNS anomaly or injury but not birth outcome. CONCLUSIONS: Children with (versus without) cCMV diagnoses in Medicaid claims data, most of whom likely had symptomatic cCMV, were more likely to have ASD diagnoses. Future research investigating ASD risk among cohorts identified through universal cCMV screening may help elucidate these observed associations. [ABSTRACT FROM AUTHOR]

The authors comment on antiviral treatment to preserve hearing in congenital cytomegalovirus (cCMV), the leading nongenetic cause of sensorineural hearing loss (SNHL) in children. Topics discussed include reason newborns are usually tested for cCMV, clinical trials about ganciclovir or valganciclovir conducted by the Collaborative Antiviral Study Group (CASG) and lack of evidence of the efficacy of antiviral medication on hearing preservation in infants with asymptomatic cCMV.

BACKGROUND: Care for infants born preterm or with major birth defects is costly. Specific estimates of financial burden for different payers are lacking, in part because use of administrative data to identify preterm infants and costs is challenging. METHODS: We used private health insurance claims data and billing codes to identify live births during 2013 and calculated first-year expenditures for employer-sponsored health plans for infants born preterm, both overall and stratified by major birth defects. RESULTS: We conservatively estimated that 7.7% of insured infants born preterm accounted for 37% of $2.0 billion spent by participating plans on the care of infants born during 2013. With a mean difference in plan expenditures of ~$47100 per infant, preterm births cost the included plans an extra $600 million during the first year of life. Extrapolating to the national level, we projected aggregate employer-sponsored plan expenditures of $6 billion for infants born preterm during 2013. Infants with major birth defects accounted for 5.8% of preterm births but 24.5% of expenditures during infancy. By using an alternative algorithm to identify preterm infants, it was revealed that incremental expenditures were higher: $78 000 per preterm infant and $14 billion nationally. CONCLUSION: Preterm births (especially in conjunction with major birth defects) represent a substantial burden on payers, and efforts to mitigate this burden are needed. In addition, researchers need to conduct studies using linked vital records, birth defects surveillance, and administrative data to accurately and longitudinally assess per-infant costs attributable to preterm birth and the interaction of preterm birth with major birth defects. [ABSTRACT FROM AUTHOR]

A letter to the editor in response to the article "The Economic Costs of Congenital Bilateral Permanent Childhood Hearing Impairment," by L. Schroeder, S. Petros, C. Kennedy et al. in the 2006 issue is presented.

The reported incidence rate of primary congenital hypothyroidism (CH) has been increasing in the United States over the past 2 decades. We have considered the possibility that the inclusion of cases of transient hypothyroidism has inflated the reported incidence rate of CH. Assessing the effects of cases of transient hypothyroidism on the incidence rate is problematic, because the definitions, diagnostic criteria, and differentiation from transient hyperthyrotropinemia vary widely among state newborn screening programs. Among the 4 etiologies for transient hypothyroidism (maternal thyrotropin receptor-blocking antibodies, exposure to maternal antithyroid medications, iodine deficiency, and iodine excess), there is little evidence of increases in the incidence rate from thyrotropin receptor-blocking antibodies. Exposure to antithyroid drugs could contribute significantly to the incidence rate of transient CH, given the high estimated incidence of active maternal hyperthyroidism. Iodine deficiency or excess in the United States seems unlikely to have contributed significantly to the incidence rate of CH, because the secular trend toward lower iodine intake among women of reproductive age in the 1980s and 1990s seems to have plateaued, and perinatal iodine exposure has presumably declined as a result of recommendations to discontinue using iodine-containing disinfectants. Although the female-to-male sex ratio among newborns with thyroid agenesis or dysgenesis (the most common causes of CH) is typically 2:1, analysis of the sex ratio of newborns diagnosed with presumed CH in the United States suggests that a substantial proportion might have transient hypothyroidism or hyperthyrotropinemia, because the sex ratio has been well below the expected 2:1 ratio. Combined ultrasonography and 1231 scintigraphy of the thyroid gland are effective tools for identifying cases of thyroid agenesis and dysgenesis and can help to differentiate cases of transient hypothyroidism from true CH. Imaging is also a vital component in evaluating children who, at 3 years of age, undergo a trial of discontinuation of levothyroxine treatment to test for persistence of hypothyroidism. Ultimately, thyroid gland imaging, in conjunction with longterm follow-up studies that appropriately assess and report whether there was permanence of hypothyroidism, will be necessary to address the true incidence rate of CH and any contribution to the observed rate by transient cases of hypothyroidism or hyperthyrotropinemia. [ABSTRACT FROM AUTHOR]

OBJECTIVES: To investigate trends in population-level school-aged reading scores among students with hearing loss in an urban Colorado school district after implementation of universal newborn hearing screening (UNHS) and Early Hearing Detection and Intervention. METHODS: The final sample included 1422 assessments conducted during the 2000--2001 through 2013--2014 school years for 321 children with hearing loss in grades 3 through 10. Longitudinal hierarchical linear modeling analyses were used to examine reading proficiency (controlling for birth year, grade in school, free and reduced lunch status, additional disability services, and English not spoken in the home). The Colorado Student Assessment Program was administered to students in third through 10th grades throughout the state. The test years chosen included children born before and after implementation of UNHS. RESULTS: After implementation of UNHS, significant longitudinal reading proficiency improvements were observed by birth year and grade overall and for all subgroups. However, gains in reading proficiency were substantially less for children eligible for free and reduced lunch and those with moderate-severe to profound hearing loss. With each succeeding birth cohort and grade, increased numbers of children participated in testing because of improved language skills, with higher proportions identified as proficient or advanced readers. CONCLUSIONS: Notable improvements in reading proficiency after Early Hearing Detection and Intervention implementation were demonstrated, as all groups of children with hearing loss became more likely to achieve proficient and advanced reading levels. On the other hand, some disparities increased, with greater improvements in reading proficiency for children in economically advantaged families. [ABSTRACT FROM AUTHOR]

The article discusses public health activities which ensure the efficiency and life-span benefits of newborn screening in the U.S. Topics discussed include the importance of newborn screening in the prevention of conditions associated with long-term disability, management of rare medical conditions, like sickle cell disease and congenital hypothyroidism, identified through this process, and the complexity of follow-up care with the expansion of newborn screening.

OBJECTIVES: To assess the prevalence, characteristics, and risk of sensorineural hearing loss (SNHL) in children with congenital cytomegalovirus infection identified through hospital-based newborn screening who were asymptomatic at birth compared with uninfected children. METHODS: We included 92 case-patients and 51 controls assessed by using auditory brainstem response and behavioral audiometry. We used Kaplan-Meier survival analysis to estimate the prevalence of SNHL, defined as ≥25 dB hearing level at any frequency and Cox proportional hazards regression analyses to compare SNHL risk between groups. RESULTS: At age 18 years, SNHL prevalence was 25% (95% confidence interval [CI]: 17%-36%) among case-patients and 8% (95% CI: 3%-22%) in controls (hazard ratio [HR]: 4.0; 95% CI: 1.2-14.5; P= .02). Among children without SNHL by age 5 years, the risk of delayed-onset SNHL was not significantly greater for case-patients than for controls (HR: 1.6; 95% CI: 0.4-6.1; P = .5). Among case-patients, the risk of delayed-onset SNHL was significantly greater among those with unilateral congenital/early-onset hearing loss than those without (HR: 6.9; 95% CI: 2.5-19.1; P < .01). The prevalence of severe to profound bilateral SNHL among case-patients was 2% (95% CI: 1%-9%). CONCLUSIONS: Delayed-onset and progression of SNHL among children with asymptomatic congenital cytomegalovirus infection continued to occur throughout adolescence. However, the risk of developing SNHL after age 5 years among case-patients was not different than in uninfected children. Overall, 2% of case-patients developed SNHL that was severe enough for them to be candidates for cochlear implantation. [ABSTRACT FROM AUTHOR]

BACKGROUND AND OBJECTIVE: In the BABY HUG trial, young children with sickle cell anemia randomized to receive hydroxyurea had fewer episodes of pain, hospitalization, and transfusions. With anticipated broader use of hydroxyurea in this population, we sought to estimate medical costs of care in treated versus untreated children. METHODS: The BABY HUG database was used to compare inpatient events in subjects receiving hydroxyurea with those receiving placebo. Unit costs were estimated from the 2009 MarketScan Multi-state Medicaid Database for children with sickle cell disease, aged 1 to 3 years. Inpatient costs were based on length of hospital stay, modified by the occurrence of acute chest syndrome, splenic sequestration, or transfusion. Outpatient expenses were based on the schedule required for BABY HUG and a "standard" schedule for 1- to 3-year-olds with sickle cell anemia. RESULTS: There were 232 hospitalizations in the subjects receiving hydroxyurea and 324 in those on placebo; length of hospital stay was similar in the 2 groups. Estimated outpatient expenses were greater in those receiving hydroxyurea, but these were overshadowed by inpatient costs. The total estimated annual cost for those on hydroxyurea ($11 072) was 21% less than the cost of those on placebo ($13 962; P = .038). CONCLUSIONS: Savings on inpatient care resulted in a significantly lower overall estimated medical care cost for young children with sickle cell anemia who were receiving hydroxyurea compared with those receiving placebo. Because cost savings are likely to increase with age, these data provide additional support for broad use of hydroxyurea treatment in this population. [ABSTRACT FROM AUTHOR]