Evaluation of risk due to chronic low dose ionizing radiation exposure on the birth prevalence of congenital heart diseases (CHD) among the newborns from high-level natural radiation areas of Kerala coast, India

Background The human population residing in monazite bearing Kerala coast are exposed to chronic low dose and low dose rate external gamma radiation due to Th232 deposits in its beach sand. The radiation level in this area varies from < 1.0 to 45.0 mGy/year. This area serves as an ideal source for conducting large-scale epidemiological studies for assessing risk of low dose and low dose rate radiation exposure on human population. The areas with a dose level of ≤1.50 mGy/year are considered as normal level natural radiation areas (NLNRAs) and areas with > 1.50 mGy/year, as high level natural radiation areas (HLNRAs). HLNRAs were further stratified into three dose groups of 1.51-3.0 mGy/year, 3.01-6.00 mGy/year and > 6.0 mGy/year. The present study evaluates the effects of chronic low dose radiation (LDR) exposure on the birth prevalence of Congenital Heart Diseases (CHD) among the live newborns monitored in hospital based prospective study from NLNRAs and HLNRAs of Kerala coast, India. Methodology Consecutive newborns were monitored from two hospital units located in the study area for congenital malformations. Referred CHD cases among the newborns screened were confirmed by conducting investigations such as pulse oximetry, chest X-ray, electrocardiogram and echocardiogram etc. Results Among the newborns screened, 289 CHDs were identified with a frequency of 1.49‰ among 193,634 livebirths, which constituted 6.03% of overall malformations and 16.29% of major malformations. Multiple logistic regression analysis suggested that the risk of CHD among the newborns of mothers from HLNRAs with a dose group of 1.51-3.0 mGy/year was significantly lower as compared to NLNRA (OR = 0.72, 95% CI: 0.57-0.92), whereas it was similar in HLNRA dose groups of 3.01-6.00 mGy/year (OR = 0.55, 95% CI: 0.31-1.00) and ≥ 6.0 mGy/year (OR = 0.96, 95% CI: 0.50-1.85). The frequency of CHDs did not show any radiation dose related increasing trend. However, a significant (P = 0.005) reduction was observed in the birth prevalence of CHDs among the newborns from HLNRA (1.28‰) as compared to NLNRA (1.79‰). Conclusion Chronic LDR exposure did not show any increased risk on the birth prevalence of CHDs from high-level natural radiation areas of Kerala coast, India. No linear increasing trend was observed with respect to different background dose groups. The frequency of CHD was observed to be 1.49 per 1000 livebirths, which was similar to the frequency of severe CHD rate reported elsewhere in India and was much less than the reported frequency of 9 per thousand.

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia

Background: Rare diseases are an important population health issue and many promising therapies have been developed in recent years. In light of novel genetic treatments expected to significantly improve spinal muscular atrophy (SMA) patients’ quality of life and the urgent need for SMA newborn screening (NBS), new epidemiological data were needed to implement SMA NBS in Estonia.Objective: We aimed to describe the birth prevalence of SMA in the years 1996–2020 and to compare the results with previously published data.Methods: We retrospectively analyzed clinical and laboratory data of SMA patients referred to the Department of Clinical Genetics of Tartu University Hospital and its branch in Tallinn.Results: Fifty-seven patients were molecularly diagnosed with SMA. SMA birth prevalence was 1 per 8,286 (95% CI 1 per 6,130–11,494) in Estonia. Patients were classified as SMA type 0 (1.8%), SMA I (43.9%), SMA II (22.8%), SMA III (29.8%), and SMA IV (1.8%). Two patients were compound heterozygotes with an SMN1 deletion in trans with a novel single nucleotide variant NM_000344.3:c.410dup, p.(Asn137Lysfs*11). SMN2 copy number was assessed in 51 patients.Conclusion: In Estonia, the birth prevalence of SMA is similar to the median birth prevalence in Europe. This study gathered valuable information on the current epidemiology of SMA, which can guide the implementation of spinal muscular atrophy to the newborn screening program in Estonia.

Time-to-event estimation of birth prevalence trends: A method to enable investigating the etiology of childhood disorders including autism

An unbiased, widely accepted estimate of the rate of occurrence of new cases of autism over time would facilitate progress in understanding the causes of autism. The same may also apply to other disorders. While incidence is a widely used measure of occurrence, birth prevalence—the proportion of each birth year cohort with the disorder—is the appropriate measure for disorders and diseases of early childhood. Studies of autism epidemiology commonly speculate that estimates showing strong increases in rate of autism cases result from an increase in diagnosis rates rather than a true increase in cases. Unfortunately, current methods are not sufficient to provide a definitive resolution to this controversy. Prominent experts have written that it is virtually impossible to solve. This paper presents a novel method, time-to-event birth prevalence estimation (TTEPE), to provide accurate estimates of birth prevalence properly adjusted for changing diagnostic factors. It addresses the shortcomings of prior methods. TTEPE is based on well-known time-to-event (survival) analysis techniques. A discrete survival process models the rates of incident diagnoses by birth year and age. Diagnostic factors drive the probability of diagnosis as a function of the year of diagnosis. TTEPE models changes in diagnostic criteria, which can modify the effective birth prevalence when new criteria take effect. TTEPE incorporates the development of diagnosable symptoms with age. General-purpose optimization software estimates all parameters, forming a non-linear regression. The paper specifies all assumptions underlying the analysis and explores potential deviations from assumptions and optional additional analyses. A simulation study shows that TTEPE produces accurate parameter estimates, including trends in both birth prevalence and the probability of diagnosis in the presence of sampling effects from finite populations. TTEPE provides high power to resolve small differences in parameter values by utilizing all available data points.

Spina bifida care, education, and research: A multidisciplinary community in a global context

Worldwide neural tube defects, such as encephalocele and spina bifida (SB), remain a substantial cause of the global burden of disease; and in the US, Latinos consistently have a higher birth prevalence of SB compared with other ethnic groups. From limited access and fragmented care, to scarcely available adult services, many are the challenges that besiege those living with SB. Thus, to provide inclusion and active involvement of parents of children and adults with SB from all communities, innovative approaches will be required, such as community-based participatory research and culturally competent learning collaboratives. Promisingly, the Spina Bifida Community-Centered Research Agenda was developed by the community of people living with SB through the Spina Bifida Association (SBA). Additionally, the SBA will host the Fourth World Congress on Spina Bifida Research and Care in March of 2023. Just as the SBA is clearly committed to this population, the Journal of Pediatric Rehabilitation Medicine will continue to serve as a catalyst for SB care, education, and research across the SB population in a global context.

Epidemiology of clubfoot in Sweden from 2016 to 2019: A national register study

Background This study aimed to estimate the birth prevalence of children born with isolated or non-isolated clubfoot in Sweden using a national clubfoot register. Secondarily we aimed to describe the clubfoot population with respect to sex, laterality, severity of deformity, comorbidity and geographic location. Methods A national register, the Swedish Pediatric Orthopedic Quality register, was used to extract data on newborn children with clubfoot. To calculate the birth prevalence of children with isolated or non-isolated clubfoot between 1st of January 2016 and 31st of December 2019, we used official reports of the total number of Swedish live births from the Swedish Board of Statistics. The Pirani score and predefined signs of atypical clubfoot were used to classify clubfoot severity at birth. Results In total 612 children with clubfoot were identified. Of these, 564 were children with isolated clubfoot, generating a birth prevalence of 1.24/1000 live births (95% confidence interval 1.15–1.35). About 8% were children with non-isolated clubfoot, increasing the birth prevalence to 1.35/1000 live births (95% confidence interval 1.25–1.46). Of the children with isolated clubfoot, 74% were boys and 47% had bilateral involvement. The children with non-isolated clubfoot had more severe foot deformities at birth and a greater proportion of clubfeet with atypical signs compared with children with isolated clubfoot. Conclusion We have established the birth prevalence of children born with isolated or non-isolated clubfoot in Sweden based on data from a national register. Moreover, we have estimated the number of children born with atypical clubfeet in instances of both isolated and non-isolated clubfoot. These numbers may serve as a baseline for expected birth prevalence when planning clubfoot treatment and when evaluating time trends of children born with clubfoot.

Prevalence of anencephaly in Africa: a systematic review and meta-analysis

Anencephaly is a severe anomaly of the brain that results from the failure of the cephalic part of the neural tube to close during the fourth week. It occurs at least in one per thousand births and is the major cause of fetal loss and disabilities in newborns. The objective of this review is to determine the birth prevalence of anencephaly in Africa. We identified relevant studies via a search of databases like PubMed Central, PubMed/Medline, Science Direct, Joanna Briggs Institute, African Journals Online, Embase, Google Scholar, Web of Science, and Cochrane Library. After examining the heterogeneity of studies via the Cochran Q test and I2 test (and Forest plot for visual inspection), the prevalence of anencephaly was estimated using the random-effect meta-analysis model. Consequently, we carried out subgroup, sensitivity, meta-regression, trim and fill, time-trend, and meta-cumulative analyses. In this systematic review and meta-analysis, the twenty-four studies reported a total of 4,963,266 births. The pooled birth prevalence of anencephaly in Africa was 0.14% (95% CI: 0.12, 0.15%). Higher burden of anencephaly was detected in Ethiopia (0.37%, CI: 0.15, 0.58%), Algeria (0.24%, CI: 0.24, 0.25%), and Eritrea (0.19%, CI: 0.19, 0.19%). The higher pooled prevalence of anencephaly was observed in the studies that included both live births and stillbirths (0.16%) and in studies done after the year 2010 (0.25%) whereas, the lower burden was detected among countries that had a mandatory folic acid fortification (0.05%). High birth prevalence of anencephaly was detected in Africa. Strong prevention and control measures should be the priority because of an increment in the magnitude of anencephaly. Helping in prevention programs, which should be the ultimate contribution of this study to the field.

Birth prevalence of encephalocele in Africa: a systematic review and meta-analysis

ObjectiveTo identify the birth prevalence of encephalocele in Africa, 2020.MethodsWe carried out a systematic search of the following databases (PubMed/Medline, PubMed Central, Joanna Briggs Institute (JBI) Library, Cochrane Library, Web of Science, Google Scholar, Science Direct, African Journals Online and Embase), using search terms (prevalence, encephalocele, “neural tube defects”, “cranium bifidum”, “congenital malformations”, “congenital defects”, “structural birth defects”, “structural abnormalities”, newborns/neonates/ “live births”/ “stillbirths” and their MeSH Terms) up to 16 July 2021. The JBI quality appraisal checklist was used to assess the quality of studies when they were abstracted using a standardised data extraction template. The I2 statistic and Cochrane Q test were used to examine heterogeneity across studies statistically. The prevalence of encephalocele was estimated using a random-effect meta-analysis model. Subgroup, sensitivity, meta-regression and time trend analysis were carried out. The publication bias was checked using Egger and Begg’s tests.ResultsTwenty-seven relevant studies were identified and provided a total of 5 107 109 births. In this systematic review and meta-analysis, the pooled birth prevalence of encephalocele in Africa was 0.02% (or 2 per 10 000 births) (95% CI 0.02% to 0.03%). The overall prevalence of birth encephalocele using the median from studies was 0.02% (IQR=0.01%–0.04%). Higher prevalence of encephalocele was detected in Nigeria 0.06% (95% CI 0.04% to 0.08%), Sudan 0.04% (95% CI 0.03% to 0.05%), Egypt 0.04% (95% CI 0.04% to 0.05%), DR of Congo 0.02% (95% CI 0.02% to 0.03%), Ethiopia 0.02% (95% CI −0.004% to 0.05%) and Tanzania 0.02% (95% CI 0.002% to 0.04%). The prevalence of encephalocele per live birth was 0.03% and both live birth and stillbirth was 0.03%.ConclusionsThis review indicates a high prevalence of encephalocele, but studies were limited suggesting the need for additional research.PROSPERO registration numberCRD42021242161.

Down Syndrome in Brazil: Occurrence and Associated Factors

Background: Down syndrome is the most frequent genetic cause of intellectual disability, with an estimated birth prevalence of 14 per 10,000 live births. In Brazil, statistical data on the occurrence of babies born with Down syndrome remain unclear. We aimed to estimate the occurrence of Down syndrome between 2012 and 2018, and to observe its association with maternal, gestational, paternal characteristics, and newborn vitality. Methods: A retrospective study was carried out using secondary data included in the Certificate of Live Birth in a state located in the southeastern region of Brazil. Data analysis was performed in the software Stata 14.1. Pearson’s chi-square test for bivariate analysis, and logistic regression for multivariate analysis were performed, with a 95% confidence interval (CI) and a significance of 5%. Results: We observed that 157 cases of Down syndrome were reported among 386,571 live births, representing an incidence of 4 in 10,000 live births. Down syndrome was associated with maternal age ≥ 35 years, paternal age ≥ 30 years, the performance of six or more prenatal consultations, prematurity, and low birth weight (p < 0.05). Conclusions: Women aged 35 and over were more likely to have children born with Down syndrome. In addition, there is an association of Down syndrome with premature birth, low birth weight, and the number of prenatal consultations (≥6).