Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation
Open accessAbstract
The present study extends our previous work on characterizing the autistic behavior profile of boys with fragile X syndrome (FXS) who meet Diagnostic and Statistical Manual for Mental Disorders, 4th Edition criteria for autism spectrum disorder (ASD) into a longitudinal evaluation of ASD in FXS (FXS + ASD). Specifically, we aimed to determine the stability of the diagnosis and profile of ASD in FXS over time. Through regression models, we also evaluated which autistic and social behaviors and skills were correlates of diagnosis and autistic behavior severity (i.e., Autism Diagnostic Interview‐Revised total scores). Finally, we assessed the evolution of cognitive parameters in FXS + ASD. A population of 56 boys (30–88 months at baseline) with FXS was evaluated using measures of autistic, social, and cognitive behaviors and skills at three yearly evaluations. We found that the diagnosis of ASD in FXS was relatively stable over time. Further emphasizing this stability, we found a set of behaviors and skills, particularly those related to peer relationships and adaptive socialization, that differentiated FXS + ASD from the rest of the FXS cohort (FXS + None) and contributed to autistic severity at all time points. Nevertheless, the general improvement in autistic behavior observed in FXS + ASD coupled with the concurrent worsening in FXS + None resulted in less differentiation between the groups over time. Surprisingly, FXS + ASD IQ scores were stable while FXS + None non‐verbal IQ scores declined. Our findings indicate that ASD is a distinctive subphenotype in FXS characterized by deficits in complex social interaction, with similarities to ASD in the general population. © 2009 Wiley‐Liss, Inc.
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Loss of FMRP function causes Fragile X Syndrome and autistic features.
“FMRP loss-of-function causes Fragile X Syndrome (FXS) and autistic features.”
From FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism (2011) · cites this paper as Hernandez et al., 2009
FXS is the leading monogenic cause of ASDs, accounting for up to 5% of all cases, and 90% of affected males show autistic behaviors.
“FXS is the leading monogenic cause of ASDs, accounting for up to 5% of all cases (Kelleher and Bear, 2008), and 90% of affected males show autistic behaviors (Hernandez et al., 2009).”
From FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism (2011) · cites this paper as Hernandez et al., 2009
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- Authors
- Hernandez, R. N., Feinberg, R. L., Vaurio, R., Passanante, N. M., Thompson, R. E., & Kaufmann, W. E.
- Affiliations
- Kennedy Krieger Institute (US)
- Johns Hopkins University (US)
- Corresponding author
- Kaufmann, Walter E.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2009-05-13
- Volume
- 149A
- Issue
- 6
- Pages
- 1125-1137
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC2734278
- OpenAlex
- W2162775240
- Cited by
- 178
- References
- 69
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 5 · 2023: 6 · 2022: 14 · 2021: 10 · 2020: 16 · 2019: 12 · 2018: 12 · 2017: 9 · 2016: 11 · 2015: 8 · 2014: 17 · 2013: 12 · 2012: 12
- FWCI
- 7.31
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (n01hd033175-015)
- National Institute of Mental Health (MH67092, R21MH067092)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (N01 HD033175)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- fragile X syndrome, autism spectrum disorder, social interaction deficits, peer relationships, cognitive development, longitudinal development, boys
- MeSH terms
- Adaptation, Psychological, Autistic Disorder, Child, Child Behavior, Child Development Disorders, Pervasive, Child, Preschool, Fragile X Syndrome, Humans, Interpersonal Relations, Interview, Psychological, Language Disorders, Language Tests, Longitudinal Studies, Male, Reference Values, Regression Analysis, Severity of Illness Index, Social Behavior, Stanford-Binet Test, Cohort Studies
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 ›
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