ReviewJournal of neurodevelopmental disorders2020
Developmental studies in fragile X syndrome.
Review in Journal of neurodevelopmental disorders, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
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
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- Alterations of the endocannabinoid system in autism spectrum disorder: a systematic review and meta-analysis.European archives of psychiatry and clinical neuroscience · 2025Pooled it
- Pooled it
- Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X Syndrome.Neurology. Genetics · 2026Review
- A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1Nature communications · 2026Article
- Neurodevelopmental origins of age-related neurodegenerative diseases.EBioMedicine · 2026Review
- Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility.Autism research : official journal of the International Society for Autism Research · 2026Article
- Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome.Orphanet journal of rare diseases · 2025Article
- Developmental Disturbances in Animal Models of Autism Spectrum Disorder.Developmental neurobiology · 2025Review
- Dysregulation of the mTOR-FMRP pathway and synaptic plasticity in an environmental model of ASD.Molecular psychiatry · 2025Article
- Compensatory Regulation of Excitation/Inhibition Balance in the Ventral Hippocampus: Insights from Fragile X Syndrome.Biology · 2025Review
- The Contribution of FMRP to the Development of Speech and Vocabulary in Young Boys with Fragile X Syndrome: A Retrospective Examination.Children (Basel, Switzerland) · 2025Article
- Disorders of puberty and neurodevelopment: A shared etiology?Annals of the New York Academy of Sciences · 2024Review
- Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Developmental associations between cognition and adaptive behavior in intellectual and developmental disability.Journal of neurodevelopmental disorders · 2024Article
- Study of MicroRNA Cluster Located on Chromosome X in Serum and Breast Cancer Tissue.Biochemical genetics · 2024Article
- Developmental Associations between Cognition and Adaptive Behavior in Intellectual and Developmental Disability.Research square · 2024Article
- Striatal insights: a cellular and molecular perspective on repetitive behaviors in pathology.Frontiers in cellular neuroscience · 2024Review
- Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions.Emerging topics in life sciences · 2023Review
- Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals.Cells · 2023Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cognitive inflexibility, and social behavioral impairments. The main purpose of this review is to summarize developmental studies of FXS in humans and in the mouse model, the Fmr1 knockout mouse. The literature presents considerable evidence that a number of early developmental deficits can be identified and that these early deficits chart a course of altered developmental experience leading to symptoms well characterized in adolescents and adults. Nevertheless, a number of critical issues remain unclear or untested regarding the development of symptomology and underlying mechanisms. First, what is the role of FMRP, the protein product of Fmr1 gene, during different developmental ages? Does the absence of FMRP during early development lead to irreversible changes, or could reintroduction of FMRP or therapeutics aimed at FMRP-interacting proteins/pathways hold promise when provided in adults? These questions have implications for clinical trial designs in terms of optimal treatment windows, but few studies have systematically addressed these issues in preclinical and clinical work. Published studies also point to complex trajectories of symptom development, leading to the conclusion that single developmental time point studies are unlikely to disambiguate effects of genetic mutation from effects of altered developmental experience and compensatory plasticity. We conclude by suggesting a number of experiments needed to address these major gaps in the field.
Indexed as
Identifiers
What OpenQuestion holds
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.