ReviewPediatric neurology2014
Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome.
Review in Pediatric neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
What it found
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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
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- Public Health Literature Review of Fragile X Syndrome.Pediatrics · 2017Pooled it
- SPG601-associated modulation of resting-state EEG and improvement in executive function in a fragile X syndrome randomized controlled crossover study.Scientific reports · 2026Trial
- Brain circuitry, behavior, and cognition: A randomized placebo-controlled trial of donepezil in fragile X syndrome.Journal of psychopharmacology (Oxford, England) · 2019Trial
- Stimulation of the medial septum diagonal band of broca rescues learning and memory deficits iniScience · 2026Article
- Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues.Neurobiology of disease · 2024Review
- Astroglial Kir4.1 potassium channel deficit drives neuronal hyperexcitability and behavioral defects in Fragile X syndrome mouse model.Nature communications · 2024Article
- Synaptic cell adhesion molecules contribute to the pathogenesis and progression of fragile X syndrome.Frontiers in cellular neuroscience · 2024Review
- Therapeutic validation and targeting of signalling networks that are dysregulated in intellectual disability.The FEBS journal · 2023Article
- Genetics of glutamate and its receptors in autism spectrum disorder.Molecular psychiatry · 2022Review
- Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.Journal of neurodevelopmental disorders · 2021Review
- Identification of a molecular locus for normalizing dysregulated GABA release from interneurons in the Fragile X brain.Molecular psychiatry · 2020Article
- Adaptive Skills in FXS: A Review of the Literature and Evaluation of the PEDI-Computer Adaptive Test (PEDI-CAT) to Measure Adaptive Skills.Brain sciences · 2020Article
- Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment.Molecular autism · 2020Article
- Evaluating Social Interactions Using the Autism Screening Instrument for Education Planning-3rd Edition (ASIEP-3): Interaction Assessment in Children and Adults with Fragile X Syndrome.Brain sciences · 2020Article
- Visual Experience-Dependent Oscillations and Underlying Circuit Connectivity Changes Are Impaired in Fmr1 KO Mice.Cell reports · 2020Article
- Neural Mechanisms Underlying Repetitive Behaviors in Rodent Models of Autism Spectrum Disorders.Frontiers in cellular neuroscience · 2020Review
- Artificial intelligence for precision medicine in neurodevelopmental disorders.NPJ digital medicine · 2019Review
- Group I mGluR-Mediated Activation of Martinotti Cells Inhibits Local Cortical Circuitry in Human Cortex.Frontiers in cellular neuroscience · 2019Article
- Molecular Mechanisms of Synaptic Dysregulation in Fragile X Syndrome and Autism Spectrum Disorders.Frontiers in molecular neuroscience · 2019Review
- Human Models Are Needed for Studying Human Neurodevelopmental Disorders.American journal of human genetics · 2018Review
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFragile X syndrome (FXS) is the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders. Recent major advances have been made in the understanding of the neurobiology and functions of fragile X mental retardation protein, the FMR1 gene product, which is absent or reduced in FXS, largely based on work in the fmr1 knockout mouse model. FXS has emerged as a disorder of synaptic plasticity associated with abnormalities of long-term depression and long-term potentiation and immature dendritic spine architecture, related to dysregulation of dendritic translation typically activated by group I mGluR and other receptors. This work has led to efforts to develop treatments for FXS with neuroactive molecules targeted to pathways dysregulated in the absence of fragile X mental retardation protein.
conclusionThese agents have been shown to rescue molecular, spine, and behavioral phenotypes in the FXS mouse model, and clinical trials are underway to translate findings in animal models of FXS to humans, raising complex issues about trial design and outcome measures to assess disease-modifying changes that might be associated with treatment. Genes known to be causes of autistic spectrum disorders interact with the translational pathway defective in FXS and it is likely that there will be substantial overlap in molecular pathways and mechanisms of synaptic dysfunction. Thus targeted treatment and clinical trial strategies in FXS may serve as a model for ASD and other cognitive disorders.
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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.