ArticleHuman genetics2012
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 2 of them syntheses that pooled it.
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Who cites it
78 citing papers in PubMed, 2 syntheses or guidelines pooled it, 110 citations in OpenAlex.
- Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review.Frontiers in psychiatry · 2021Pooled it
- Glutamatergic candidate genes in autism spectrum disorder: an overview.Journal of neural transmission (Vienna, Austria : 1996) · 2014Pooled it
- Autonomic Nervous System Function and Sensory Sensitivity in 12-Month-Old Infants with theInternational journal of molecular sciences · 2026Article
- Social Communication Delay in an Unbiased Sample of Preschoolers With theJournal of speech, language, and hearing research : JSLHR · 2024Article
- Autistic Traits Associated with the Fragile X Premutation Allele: The Neurodevelopmental Profile.Developmental neuropsychology · 2024Review
- Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.Journal of autism and developmental disorders · 2023Article
- Review
- Gene×environment interactions in autism spectrum disorders.Current topics in developmental biology · 2023Review
- Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers.Genes · 2022Article
- Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications.Journal of neurology · 2022Review
- Sex and Genotype Modulate the Dendritic Effects of Developmental Exposure to a Human-Relevant Polychlorinated Biphenyls Mixture in the Juvenile Mouse.Frontiers in neuroscience · 2021Article
- The Role of Glutamate in Language and Language Disorders - Evidence from ERP and Pharmacologic Studies.Neuroscience and biobehavioral reviews · 2020Review
- Cortical gyrification and its relationships with molecular measures and cognition in children with the FMR1 premutation.Scientific reports · 2020Article
- Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations.Translational psychiatry · 2020Article
- Fragile X associated neuropsychiatric disorders in a male without FXTAS.Intractable & rare diseases research · 2020Article
- Developmental aspects of FXAND in a man with the FMR1 premutation.Molecular genetics & genomic medicine · 2020Article
- Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.Brain sciences · 2019Review
- [Fragile X associated tremor/ataxia syndrome: its clinical presentation, pathology, and treatment].Revista de neurologia · 2019Review
- Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2019Article
- Genetic mutations in CaGenes, brain, and behavior · 2019Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Seizures are a common co-occurring condition in those with fragile X syndrome (FXS), and in those with idiopathic autism spectrum disorder (ASD). Seizures are also associated with ASD in those with FXS. However, little is known about the rate of seizures and how commonly these problems co-occur with ASD in boys with the FMR1 premutation. We, therefore, determined the prevalence of seizures and ASD in boys with the FMR1 premutation compared with their sibling counterparts and population prevalence estimates. Fifty premutation boys who presented as clinical probands (N = 25), or non-probands (identified by cascade testing after the proband was found) (N = 25), and 32 non-carrier controls were enrolled. History of seizures was documented and ASD was diagnosed by standardized measures followed by a team consensus of ASD diagnosis. Seizures (28%) and ASD (68%) were more prevalent in probands compared with non-probands (0 and 28%), controls (0 and 0%), and population estimates (1 and 1.7%). Seizures occurred more frequently in those with the premutation and co-morbid ASD particularly in probands compared with those with the premutation alone (25 vs. 3.85%, p = 0.045). Although cognitive and adaptive functioning in non-probands were similar to controls, non-probands were more likely to meet the diagnosis of ASD than controls (28 vs. 0%, p < 0.0001). In conclusion, seizures were relatively more common in premutation carriers who presented clinically as probands of the family and seizures were commonly associated with ASD in these boys. Therefore, boys with the premutation, particularly if they are probands should be assessed carefully for both ASD and seizures.
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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.