ArticleJournal of neurodevelopmental disorders2019
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.
Article in Journal of neurodevelopmental disorders, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 4 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 4 syntheses or guidelines pooled it, 53 citations in OpenAlex.
- Psychiatric difficulties in females with fragile X syndrome: a systematic review and meta-analyses.Frontiers in psychiatry · 2026Pooled it
- Pooled it
- Neurodevelopmental assessments used to measure preschoolers' cognitive development in Latin America: a systematic review.Journal of pediatric psychology · 2024Pooled it
- Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence.Journal of neurodevelopmental disorders · 2021Pooled it
- Aberrant Neural Entrainment to Word-Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit.Autism research : official journal of the International Society for Autism Research · 2026Article
- Aberrant Neural Entrainment to Word-Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit.bioRxiv : the preprint server for biology · 2025Article
- Divergent aperiodic slope and alpha dynamics expose cortical excitability gradients in fragile X syndrome.Molecular autism · 2025Article
- A Transcriptomic Dataset of Embryonic Murine Telencephalon of Fmr1-Deficient Mice.Scientific data · 2025Article
- Review
- FX ENTRAIN: scientific context, study design, and biomarker driven brain-computer interfaces in neurodevelopmental conditions.Frontiers in neuroscience · 2025Article
- FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.The Journal of molecular diagnostics : JMD · 2024Article
- Epigenetic insights into Fragile X Syndrome.Frontiers in cell and developmental biology · 2024Review
- Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome.Cells · 2023Article
- Phenotypic variability to medication management: an update on fragile X syndrome.Human genomics · 2023Review
- Article
- Directly reprogrammed fragile X syndrome dorsal forebrain precursor cells generate cortical neurons exhibiting impaired neuronal maturation.Frontiers in cellular neuroscience · 2023Article
- Altered frontal connectivity as a mechanism for executive function deficits in fragile X syndrome.Molecular autism · 2022Article
- The aberrant behavior profile in Indonesian individuals with fragile X syndrome with limited genetic services.Intractable & rare diseases research · 2022Article
- Neocortical localization and thalamocortical modulation of neuronal hyperexcitability contribute to Fragile X Syndrome.Communications biology · 2022Article
- Association of lipid rafts cholesterol with clinical profile in fragile X syndrome.Scientific reports · 2022Article
Corrections and comments
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Authors and funding
23 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually associated with a CGG expansion, termed full mutation (FM: CGG ≥ 200), increased DNA methylation of the FMR1 promoter and silencing of the gene. Mosaicism for presence of cells with either methylated FM or smaller unmethylated pre-mutation (PM: CGG 55-199) alleles in the same individual have been associated with better cognitive functioning. This study compares age- and sex-matched FM-only and PM/FM mosaic individuals on intellectual functioning, ASD features and maladaptive behaviours.
methodsThis study comprised a large international cohort of 126 male and female participants with FXS (aged 1.15 to 43.17 years) separated into FM-only and PM/FM mosaic groups (90 males, 77.8% FM-only; 36 females, 77.8% FM-only). Intellectual functioning was assessed with age appropriate developmental or intelligence tests. The Autism Diagnostic Observation Schedule-2nd Edition was used to examine ASD features while the Aberrant Behavior Checklist-Community assessed maladaptive behaviours.
resultsComparing males and females (FM-only + PM/FM mosaic), males had poorer intellectual functioning on all domains (p < 0.0001). Although females had less ASD features and less parent-reported maladaptive behaviours, these differences were no longer significant after controlling for intellectual functioning. Participants with PM/FM mosaicism, regardless of sex, presented with better intellectual functioning and less maladaptive behaviours compared with their age- and sex-matched FM-only counterparts (p < 0.05). ASD features were similar between FM-only and PM/FM mosaics within each sex, after controlling for overall intellectual functioning.
conclusionsMales with FXS had significantly lower intellectual functioning than females with FXS. However, there were no significant differences in ASD features and maladaptive behaviours, after controlling for intellectual functioning, independent of the presence or absence of mosaicism. This suggests that interventions that primarily target cognitive abilities may in turn reduce the severity of maladaptive behaviours including ASD features in FXS.
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