Autism spectrum disorder in fragile X syndrome: cooccurring conditions and current treatment
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BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. METHODS: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country. The data were collected by clinicians at the patient visit and by parent report for nonclinical and behavioral outcomes from September 7, 2012 through August 31, 2014. Data analyses were performed by using χ2 tests for association, t tests, and multiple logistic regression to examine the association between clinical and other factors with ASD status. RESULTS: Half of the males and nearly 20% of females met Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria for current ASD. Relative to the FXS-only group, the FXS with ASD (FXS+ASD) group had a higher prevalence of seizures (20.7% vs 7.6%, P < .001), persistence of sleep problems later in childhood, increased behavior problems, especially aggressive/disruptive behavior, and higher use of α-agonists and antipsychotics. Behavioral services, including applied behavior analysis, appeared to be underused in children with FXS+ASD (only 26% and 16% in prekindergarten and school-age periods, respectively) relative to other populations with idiopathic ASD. CONCLUSIONS: These findings confirm among individuals with FXS an association of an ASD diagnosis with important cooccurring conditions and identify gaps between expected and observed treatments among individuals with FXS+ASD.
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50% of males and 20% of females with Fragile X meet full diagnostic criteria for ASD.
“50% of males, and 20% of females with Fragile X meet full diagnostic criteria for ASD (Kaufmann et al., 2017)”
From Parallel social information processing circuits are differentially impacted in autism (2020) · cites this paper as Kaufmann et al., 2017
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- Authors
- Kaufmann, W. E., Kidd, S. A., Andrews, H. F., Budimirovic, D. B., Esler, A., Haas-Givler, B., Stackhouse, T., Riley, C., Peacock, G., Sherman, S. L., Brown, W. T., & Berry-Kravis, E.
- Affiliations
- Boston Children's Hospital (US)
- National Fragile X Foundation (US)
- Columbia University (US)
- Kennedy Krieger Institute (US)
- University of Minnesota (US)
- Geisinger Health System, Lewisburg, Pennsylvania;
- Developmental FX, Denver, Colorado;
- Centers for Disease Control and Prevention (US)
- Emory University (US)
- New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York; and
- Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois
- Corresponding author
- Kaufmann, Walter E.
- ORCID
- Venue
- PEDIATRICS
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 2017-06-01
- Volume
- 139
- Issue
- Supplement_3
- Pages
- S194-S206
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- PMC
- PMC5619699
- OpenAlex
- W2620588197
- Cited by
- 268
- References
- 72
- Citations by year
- 2026: 19 · 2025: 26 · 2024: 35 · 2023: 37 · 2022: 49 · 2021: 40 · 2020: 25 · 2019: 25 · 2018: 10 · 2017: 2
- FWCI
- 11.25
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- PEDIATRICS (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Fragile X Foundation
- National Institutes of Health (CC999999)
- Centers for Disease Control and Prevention (U01DD000231, U01DD001189, U19DD000753)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD090255)
- 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 › Child Nutrition and Feeding Issues
- Keywords
- fragile X syndrome, autism spectrum disorder, comorbidities, seizures, sleep disorders, aggression, disruptive behavior, alpha-adrenergic agonists, antipsychotic drugs, applied behavior analysis, treatment gap, sex differences
- MeSH terms
- Autism Spectrum Disorder, Applied Behavior Analysis, Adolescent, Adrenergic alpha-Agonists, Adult, Child, Child Behavior Disorders, Child, Preschool, Combined Modality Therapy, Female, Fragile X Syndrome, Humans, Infant, Longitudinal Studies, Male, Registries, Antipsychotic Agents, Comorbidity, Diagnostic and Statistical Manual of Mental Disorders
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