The DOI matches its Crossref record; 71 of the 72 references it cites were found in a registry or an index.
Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment
Open accessAbstract
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Diagnostic and Statistical Manual of Mental Disorders
American Psychiatric Association (2013) · doi:10.1176/appi.books.9780890425596 · Cited by 116,369
Diagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,845
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Global Prevalence of Autism and Other Pervasive Developmental Disorders
Elsabbagh, M., Divan, G., Koh, Y., Kim, Y. S., Kauchali, S., Marcín, C., Montiel‐Nava, C., Patel, V., Paula, C. S., Wang, C., et al. (2012) · Autism Research · doi:10.1002/aur.239 · Cited by 2,636
(1985) · PubMed · Cited by 1,427
Costs of Autism Spectrum Disorders in the United Kingdom and the United States
Buescher, A. V. S., Cidav, Z., Knapp, M., & Mandell, D. S. (2014) · JAMA Pediatrics · doi:10.1001/jamapediatrics.2014.210 · Cited by 1,296
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207
Fragile X Genotype Characterized by an Unstable Region of DNA
Yu, S., Pritchard, M. A., Kremer, E. J., Lynch, M., Nancarrow, J. K., Baker, E. G., Holman, K., Mulley, J. C., Warren, S. T., Schlessinger, D., et al. (1991) · Science · doi:10.1126/science.252.5009.1179 · Cited by 793
FMR1 and the fragile X syndrome: Human genome epidemiology review
Crawford, D. C., Acuña, J. M., & Sherman, S. L. (2001) · Genetics in Medicine · doi:10.1097/00125817-200109000-00006 · Cited by 711
Internet survey of treatments used by parents of children with autism.
Green, V. A., Pituch, K. A., Itchon, J., Choi, A., O’Reilly, M., & Sigafoos, J. (2006) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2004.12.002 · Cited by 617
Cited by
Sorted by citations
Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838
Self-citationThe molecular biology of FMRP: new insights into fragile X syndrome
Richter, J. D., & Zhao, X. (2021) · Nature Reviews Neuroscience · doi:10.1038/s41583-021-00432-0 · Cited by 390
A synaptic perspective of fragile X syndrome and autism spectrum Disorders.
Bagni, C., & Zukin, R. S. (2019) · Neuron · doi:10.1016/j.neuron.2019.02.041 · Cited by 326
Blood-brain barrier regulation in psychiatric disorders
Kealy, J., Greene, C., & Campbell, M. (2018) · Neuroscience Letters · doi:10.1016/j.neulet.2018.06.033 · Cited by 318
Fetit, R., Hillary, R. F., Price, D. J., & Lawrie, S. M. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.07.014 · Cited by 148
Metadata
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
