ReviewBrain sciences2019
Early Identification of Fragile X Syndrome through Expanded Newborn Screening.
Review in Brain sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed.
- Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.Nature medicine · 2025Article
- Age-related trajectories of health and cognition in mothers of children with developmental disabilities: Longitudinal findings from two independent studies.Social science & medicine (1982) · 2025Article
- Perspectives of parents receiving normal results from genomic newborn screening: a mixed-methods evaluation from the early check program.Frontiers in genetics · 2025Article
- A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Article
- Parental Preferences for Expanded Newborn Screening: What Are the Limits?Children (Basel, Switzerland) · 2023Article
- Newborn Screening Is on a Collision Course with Public Health Ethics.International journal of neonatal screening · 2022Article
- Longitudinal PET studies of mGluR5 in FXS using an FMR1 knockout mouse model.Translational neuroscience · 2022Article
- Raising Knowledge and Awareness of Fragile X Syndrome in Serbia, Georgia, and Colombia: A Model for Other Developing Countries?The Yale journal of biology and medicine · 2021Article
- FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China.World journal of pediatrics : WJP · 2021Article
- Parental Reports on Early Autism Behaviors in Their Children with Fragile X Syndrome as a Function of Infant Feeding.Nutrients · 2021Article
- Predicting Autism in Infancy.Journal of the American Academy of Child and Adolescent Psychiatry · 2021Article
- Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.Molecular genetics & genomic medicine · 2021Article
- Emergence of Developmental Delay in Infants and Toddlers With anPediatrics · 2021Article
- Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'.Journal of genetic counseling · 2021Article
- Molecular analysis ofExpert review of molecular diagnostics · 2020Article
- White matter as a monitoring biomarker for neurodevelopmental disorder intervention studies.Journal of neurodevelopmental disorders · 2019Review
- Towards Mechanism-Based Treatments for Fragile X Syndrome.Brain sciences · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
Over the past 20 years, research on fragile X syndrome (FXS) has provided foundational understanding of the complex experiences of affected individuals and their families. Despite this intensive focus, there has been little progress on earlier identification, with the average age of diagnosis being 3 years. For intervention and treatment approaches to have the greatest impact, they need to begin shortly after birth. To access this critical timespan, differential methods of earlier identification need to be considered, with an emerging focus on newborn screening practices. Currently, barriers exist that prevent the inclusion of FXS on standard newborn screening panels. To address these barriers, an innovative program is being implemented in North Carolina to offer voluntary screening for FXS under a research protocol, called Early Check. This program addresses the difficulties observed in prior pilot studies, such as recruitment, enrollment, lab testing, and follow-up. Early Check provides an opportunity for stakeholders and the research community to continue to gain valuable information about the feasibility and greater impact of newborn screening on the FXS population.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.