Dataset Information

Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.

ABSTRACT: Achondroplasia is a genetic disorder that results in disproportionate short stature. The true prevalence of achondroplasia is unknown as estimates vary widely. This systematic literature review and meta-analysis was conducted to better estimate worldwide achondroplasia birth prevalence. PubMed, Embase, Scielo, and Google Scholar were searched, complemented by manual searching, for peer-reviewed articles published between 1950 and 2019. Eligible articles were identified by two independent researchers using predefined selection criteria. Birth prevalence estimates were extracted for analysis, and the quality of evidence was assessed. A meta-analysis using a quality effects approach based on the inverse variance fixed effect model was conducted. The search identified 955 unique articles, of which 52 were eligible and included. Based on the meta-analysis, the worldwide birth prevalence of achondroplasia was estimated to be 4.6 per 100,000. Substantial regional variation was observed with a considerably higher birth prevalence reported in North Africa and the Middle East compared to other regions, particularly Europe and the Americas. Higher birth prevalence was also reported in specialized care settings. Significant heterogeneity (Higgins I2 of 84.3) was present and some indication of publication bias was detected, based on visual asymmetry of the Doi plot with a Furuya-Kanamori index of 2.73. Analysis of pooled data from the current literature yields a worldwide achondroplasia birth prevalence of approximately 4.6 per 100,000, with considerable regional variation. Careful interpretation of these findings is advised as included studies are of broadly varying methodological quality.

SUBMITTER: Foreman PK

PROVIDER: S-EPMC7540685 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.

Foreman Pamela K PK van Kessel Femke F van Hoorn Rosa R van den Bosch Judith J Shediac Renée R Landis Sarah S

American journal of medical genetics. Part A 20200817 10

Achondroplasia is a genetic disorder that results in disproportionate short stature. The true prevalence of achondroplasia is unknown as estimates vary widely. This systematic literature review and meta-analysis was conducted to better estimate worldwide achondroplasia birth prevalence. PubMed, Embase, Scielo, and Google Scholar were searched, complemented by manual searching, for peer-reviewed articles published between 1950 and 2019. Eligible articles were identified by two independent researc ...[more]

PMID: 32803853

Similar Datasets

Project description:BackgroundPhenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood. If left untreated, the accumulation of Phe can result in profound neurocognitive disability. The objective of this systematic literature review and meta-analysis was to estimate the global birth prevalence of PAH deficiency from newborn screening studies and to estimate regional differences, overall and for various clinically relevant Phe cutoff values used in confirmatory testing.MethodsThe protocol for this literature review was registered with PROSPERO (International prospective register of systematic reviews). Pubmed and Embase database searches were used to identify studies that reported the birth prevalence of PAH deficiency. Only studies including numeric birth prevalence reports of confirmed PAH deficiency were included.ResultsFrom the 85 publications included in the review, 238 birth prevalence estimates were extracted. After excluding prevalence estimates that did not meet quality assessment criteria or because of temporal and regional overlap, estimates from 45 publications were included in the meta-analysis. The global birth prevalence of PAH deficiency, estimated by weighting regional birth prevalences relative to their share of the population of all regions included in the study, was 0.64 (95% confidence interval [CI] 0.53-0.75) per 10,000 births and ranged from 0.03 (95% CI 0.02-0.05) per 10,000 births in Southeast Asia to 1.18 (95% CI 0.64-1.87) per 10,000 births in the Middle East/North Africa. Regionally weighted global birth prevalences per 10,000 births by confirmatory test Phe cutoff values were 0.96 (95% CI 0.50-1.42) for the Phe cutoff value of 360 ± 100 µmol/L; 0.50 (95% CI 0.37-0.64) for the Phe cutoff value of 600 ± 100 µmol/L; and 0.30 (95% CI 0.20-0.40) for the Phe cutoff value of 1200 ± 200 µmol/L.ConclusionsSubstantial regional variation in the birth prevalence of PAH deficiency was observed in this systematic literature review and meta-analysis of published evidence from newborn screening. The precision of the prevalence estimates is limited by relatively small sample sizes, despite widespread and longstanding newborn screening in much of the world.

Project description:BackgroundAchondroplasia is the most common form of skeletal dysplasia. Recent advances in therapeutic options have highlighted the need for understanding the burden and treatment landscape of the condition. This systematic literature review (SLR) aimed to identify health-related quality of life (HRQoL)/utilities, healthcare resource use (HCRU), costs, efficacy, safety and economic evaluation data in achondroplasia and to identify gaps in the research.MethodsSearches of MEDLINE, Embase, the University of York Centre for Reviews and Dissemination (CRD), the Cochrane Library and grey literature were performed. Articles were screened against pre-specified eligibility criteria by two individuals and study quality was assessed using published checklists. Additional targeted searches were conducted to identify management guidelines.ResultsFifty-nine unique studies were included. Results demonstrated a substantial HRQoL and HCRU/cost-related burden of achondroplasia on affected individuals and their families throughout their lifetimes, particularly in emotional wellbeing and hospitalisation costs and resource use. Vosoritide, growth hormone (GH) and limb lengthening all conferred benefits for height or growth velocity; however, the long-term effects of GH therapy were unclear, data for vosoritide were from a limited number of studies, and limb lengthening was associated with complications. Included management guidelines varied widely in their scope, with the first global effort to standardise achondroplasia management represented by the International Achondroplasia Consensus Statement published at the end of 2021. Current evidence gaps include a lack of utility and cost-effectiveness data for achondroplasia and its treatments.ConclusionsThis SLR provides a comprehensive overview of the current burden and treatment landscape for achondroplasia, along with areas where evidence is lacking. This review should be updated as new evidence becomes available on emerging therapies.

Project description:IntroductionClubfoot is a common congenital birth defect, with an average prevalence of approximately 1 per 1000 live births, although this rate is reported to vary among different countries around the world. If it remains untreated, clubfoot causes permanent disability, limits educational and employment opportunities, and personal growth. The aim of this systematic review and meta-analysis is to estimate the global birth prevalence of congenital clubfoot.Methods and analysisElectronic databases including MEDLINE, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Embase, Global Health, Latin American & Caribben Health Science Literature (LILACS), Maternity and Infant Care, Web of Science, Scopus and Google Scholar will be searched for observational studies based on predefined criteria and only in English language from inception of database in 1946 to 10 November 2017. A standard data extraction form will be used to extract relevant information from included studies. The Joanna Briggs Institute appraisal checklist will be used to assess the overall quality of studies reporting prevalence. All included studies will be assessed for risk of bias using a tool developed specifically for prevalence studies. Forest plots will be created to understand the overall random effects of pooled estimates with 95% CIs. An I2 test will be done for heterogeneity of the results (P>0.05), and to identify the source of heterogeneity across studies, subgroup or meta-regression will be used to assess the contribution of each variable to the overall heterogeneity. A funnel plot will be used to identify reporting bias, and sensitivity analysis will be used to assess the impact of methodological quality, study design, sample size and the impact of missing data.Ethics and disseminationThis review will be conducted completely based on published data, so approval from an ethics committee or written consent will not be required. The results will be disseminated through a peer-reviewed publication and relevant conference presentations.Prospero registration numberCRD42016041922.

Project description:BackgroundNeural tube defects (NTDs) are associated with high rates of neonatal mortality and morbidity worldwide. The promotion of folic acid fortification and supplementation in pregnant women by the Food and Drug Administration significantly decreased the incidence of NTDs in the United States. This practice is not widely adopted in Eastern Africa countries. We hypothesized that these countries experience a higher burden of NTDs than countries that promote the use of folic acid. We aimed to estimate the birth prevalence of NTDs in the United Nations (UN) Eastern African region.MethodsPubMed (Medline), Embase, and Cochrane Library databases were systematically searched from inception to December 17, 2021. We included randomized controlled trials or observational studies that reported the prevalence estimates of NTDs in Eastern Africa. Random effects model was used to pool the effect estimates. The GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach was used to assess the certainty of the evidence. Outcome measures were overall and specific (spina bifida, anencephaly, encephalocele) rates of NTDs per 10,000 births, including live and stillborn cases.ResultsThe meta-analysis included 20 studies consisting of 752,936 individuals. The pooled prevalence of all NTDs per 10,000 births in Eastern Africa was 33.30 (95% CI: 21.58 to 51.34). Between-study heterogeneity was high (I2 = 97%, p < 0.0001), The rate was highest in Ethiopia (60 per 10,000). Birth prevalence of spina bifida (20 per 10,000) was higher than anencephaly (9 per 10,000) and encephalocele (2.33 per 10,000). No studies on NTDs were identified in 70% of the UN Eastern Africa region. Birth prevalence increased by 4% per year from 1983 to 2018. The level of evidence as qualified with GRADE was moderate.ConclusionThe birth prevalence of NTDs in the United Nations region of Eastern Africa is 5 times as high as observed in Western countries with mandatory folic acid supplementation in place. Therefore, mandatory folic acid supplementation of stable foods may decrease the risk of NTDs in Eastern Africa.

Project description:IntroductionPreterm birth (PTB) complications are the leading cause of death among neonates globally. The reduction in neonatal mortality is not remarkable in Ethiopia. Therefore, this review will assess the magnitude and associated factors of PTB in Ethiopia.Methods and analysisThe Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline will be followed during the systematic review. We will include all observational studies published from 1 January 2009 to 31 December 2019 that examined the level and/or associated factors of any type of PTB among live births in Ethiopia. Inclusion criteria will be all live births, PTB defined as delivery before 37 weeks gestation. The primary outcome will be PTB <37 weeks, and secondary outcomes including PTB <34, <32 and <28 weeks will be analysed. PubMed and Science Direct databases as well as Google search engine and Google Scholar will be searched. The pooled prevalence of preterm and effect size of association for associated factors will be analysed using the Stata software V.14. The heterogeneity between studies will be measured by I2 statistics. A random-effects model will be used to estimate if heterogeneity detected. Publication bias will be assessed using a funnel plot. Subgroup analysis will be sought based on possible characteristics of the studies, specific morbidity (like pre-eclampsia, hypertension), type of PTB (spontaneous or iotrogenic) and quality of study (high-quality or low-risk). Meta-regression will be considered for major covariates (maternal age and maternal body mass index) related to PTB. Forest plots will be used to present the combined estimate with 95% CIs. The quality of evidence of the outcomes will be assessed with the GRADE (Grading of Recommendations, Assessment, Development and Evaluations) approach.Ethics and disseminationNo ethical approval is necessary for this systematic review. The findings will be published in a peer-reviewed journal.Prospero registration numberCRD42017077356.

Dataset Information

Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.

Publications

Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets