Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder
Open accessAbstract
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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In premutation carriers, shyness, anxiety, social deficits, and ADHD are common, particularly in boys.
“In PM carriers, shyness, anxiety, social deficits, and ADHD are some of the most common features observed, particularly in boys (29)(30)(31).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [31]
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- Authors
- Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S. W., Laird, M., Mu, Y., Tassone, F., Nguyen, D. V., & Hagerman, R. J.
- Affiliations
- University of California Davis Medical Center (US)
- University of California System (US)
- Corresponding author
- Hagerman, Randi J.
- ORCID
- Venue
- Human Genetics
- Published
- 2011-10-15
- Volume
- 131
- Issue
- 4
- Pages
- 581-589
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- PMC
- PMC4105134
- OpenAlex
- W2101609880
- Cited by
- 109
- References
- 52
- Citations by year
- 2026: 1 · 2024: 2 · 2023: 1 · 2022: 6 · 2021: 5 · 2020: 6 · 2019: 8 · 2018: 10 · 2017: 10 · 2016: 11 · 2015: 9 · 2014: 13 · 2013: 12 · 2012: 12
- FWCI
- 7.58
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- King Chulalongkorn Memorial Hospital
- National Institutes of Health
- National Institute on Aging (AG032119, AG032115, RL1AG032119, RL1AG032115)
- National Institute of Mental Health (MH77554, K23MH077554)
- National Institute on Drug Abuse (TL1DA024854, DA024854)
- National Institute of Dental and Craniofacial Research (UL1DE019583, DE019583)
- National Center for Research Resources (UL1RR024146)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD036071, HD 02274, P30HD002274, R01HD036071)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Keywords
- fragile X premutation, fragile X syndrome, autism spectrum disorder, seizures, comorbidities, boys, prevalence, cascade testing, probands
- MeSH terms
- Adolescent, Analysis of Variance, California, Child, Child Development Disorders, Pervasive, Child, Preschool, Gene Frequency, Humans, Male, Seizures, Comorbidity, Prevalence, Trinucleotide Repeat Expansion, Fragile X Messenger Ribonucleoprotein 1, Fragile X Mental Retardation Protein
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