Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder
Open accessAbstract
This study examined whether secondary medical diagnoses that affect CNS function (i.e., seizures, malformations, or genetic disorders), are more likely to occur in individuals with fragile X syndrome (FXS) and autism spectrum disorder (FXS + ASD) or FXS alone. Ninety males (3–25 years) with FXS or FXS + ASD were evaluated for secondary medical diagnoses by medical history and examination. A significant difference in the incidence of medical problems was found between patients with FXS + ASD (38.6%) and FXS alone (18.2%,P < 0.05). Medical problems that affect the CNS are more likely to occur in those with FXS + ASD and it is probable that additional brain dysfunction associated with these medical problems enhance the risk of autism in those with FXS. © 2008 Wiley‐Liss, Inc.
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Children with fragile X syndrome and seizures, or with additional CNS-affecting medical problems such as birth asphyxia or additional gene mutations, are at greater risk of having autism in addition to fragile X syndrome.
“Children with FXS and seizures (47) as well as additional medical problems that affect the CNS, such as birth asphyxia or additional gene mutations, are at greater risk of having autism in addition to FXS (48).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [48]
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“…al. 2004, Hessl et al. 2006), poorer adaptive functions (Rogers et al. 2001, Kau et al. 2004), increased likelihood for developing secondary medical conditions (Garcia-Nonell et al. 2008), and, according to some reports, decreased receptive language skills (Lewis et al. 2006, Rogers et al. 2001).”
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- Authors
- García‐Nonell, C., Ratera, E. R., Harris, S., Hessl, D., Ono, M. Y., Tartaglia, N., Marvin, E., Tassone, F., & Hagerman, R. J.
- Affiliations
- Corporació Sanitària Parc Taulí (ES)
- University of California Davis Medical Center (US)
- University of Colorado Denver (US)
- University of California, Davis (US)
- Corresponding author
- Hagerman, Randi J.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2008-07-14
- Volume
- 146A
- Issue
- 15
- Pages
- 1911-1916
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC4097171
- OpenAlex
- W2088714361
- Cited by
- 76
- References
- 58
- Citations by year
- 2025: 1 · 2024: 3 · 2023: 1 · 2022: 2 · 2021: 1 · 2020: 2 · 2019: 2 · 2018: 5 · 2017: 3 · 2016: 5 · 2015: 4 · 2014: 14 · 2013: 3 · 2012: 8
- FWCI
- 4.18
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 36071, 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 › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- fragile X syndrome, autism spectrum disorder, seizures, brain malformations, genetic disorders, comorbidities, central nervous system disorders, autism risk
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosome Aberrations, Fragile X Syndrome, Humans, Male, Mosaicism, Retrospective Studies, Seizures, Trinucleotide Repeats
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