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Cited by 1Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchPhonetics and Phonology Research

Prosodic differences in women with the FMR1 Premutation: subtle expression of autism-related phenotypes through speech

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Lau, Joseph C. Y., Guilfoyle, Janna, Crawford, Stephanie, Johnson, Grace, Landau, Emily, Xing, Jiayin, Kumareswaran, Mitra, Ethridge, Sarah +9 more·2025·International Journal of Molecular Sciences
DOI 10.3390/ijms26062481PMC PMC11942500
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Abstract

Evidence suggests that carriers of FMR1 mutations (e.g., fragile X syndrome and the FMR1 premutation) may demonstrate specific phenotypic patterns shared with autism (AU), particularly in the domain of pragmatic language, which involves the use of language in social contexts. Such evidence may implicate FMR1, a high-confidence gene associated with AU, in components of the AU phenotype. Prosody (i.e., using intonation and rhythm in speech to express meaning) is a pragmatic feature widely impacted in AU. Prosodic differences have also been observed in unaffected relatives of autistic individuals and in those with fragile X syndrome, although prosody has not been extensively studied among FMR1 premutation carriers. This study investigated how FMR1 variability may specifically influence prosody by examining the prosodic characteristics and related neural processing of prosodic features in women carrying the FMR1 premutation (PM). In Study 1, acoustic measures of prosody (i.e., in intonation and rhythm) were examined in speech samples elicited from a semi-structured narrative task. Study 2 examined the neural frequency following response (FFR) as an index of speech prosodic processing. Findings revealed differences in the production of intonation and rhythm in PM carriers relative to controls, with patterns that parallel differences identified in parents of autistic individuals. No differences in neural processing of prosodic cues were found. Post hoc analyses further revealed associations between speech rhythm and FMR1 variation (number of CGG repeats) among PM carriers. Together, the results suggest that FMR1 may play a role in speech prosodic phenotypes, at least in speech production, contributing to a deeper understanding of AU-related speech and language phenotypes among FMR1 mutation carriers.

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  • Premutation carriers, who have intermediate repeat lengths, typically do not meet criteria for classic fragile X syndrome, yet they show increased rates of non-syndromic ASD.

    “At the same time, premutation carriers, who have intermediate repeat lengths, typically do not meet criteria for classic fragile X syndrome, yet they show increased rates of non-syndromic ASD (Lau et al., 2025).”

    From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Lau et al., 2025

    The Introduction distinguishes the premutation (55–200 CGG repeats) from the full mutation (>200 repeats) that causes fragile X syndrome, and describes subtle autism-related traits in premutation carriers. It does not report increased rates of diagnosed non-syndromic ASD in carriers; autism-related traits are not the same as ASD diagnoses. (LLM, conf=0.88)

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Research works printed but not linked: 1

  1. [1]Cutler A. Isard S.D. The Production of Prosody Language Production Butterworth B. Academic Press London, UK 1980 245 269

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Authors
Lau, J. C. Y., Guilfoyle, J., Crawford, S., Johnson, G., Landau, E., Xing, J., Kumareswaran, M., Ethridge, S., Butler, M., Goldman, L., Martin, G. E., Zhou, L., Krizman, J., Nicol, T., Kraus, N., Berry-Kravis, E., & Losh, M.
Affiliations
  • Northwestern University (US)
  • St. John's University (US)
  • Rush University Medical Center (US)
  • Department of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, IL 60612, USA
Corresponding author
Losh, Molly
ORCID
Venue
International Journal of Molecular Sciences
Publisher
MDPI AG
Published
2025-03-11
Volume
26
Issue
6
Pages
2481
ISSN
1422-0067 (ISSN-L)
DOI
10.3390/ijms26062481
PMC
PMC11942500
OpenAlex
W4408339659
Cited by
1
References
112
Citations by year
2026: 1
FWCI
0.59
Type
journal article
Language
en
Open access
Licence
Locations
  • International Journal of Molecular Sciences (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • National Institute of Mental Health (R01MH091131, R01DC010191, R21DC022031, R03DC021846)
  • National Institute on Deafness and Other Communication Disorders (R01MH091131, R01DC010191, R21DC022031, R03DC021846)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Social Sciences › Psychology › Experimental and Cognitive Psychology › Phonetics and Phonology Research
Keywords
fragile X premutation, fragile X syndrome, autism spectrum disorder, prosody, intonation, speech rhythm, pragmatic language, speech production, frequency-following response, women
MeSH terms
Adolescent, Adult, Autistic Disorder, Female, Fragile X Syndrome, Heterozygote, Humans, Middle Aged, Mutation, Phenotype, Speech, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1, Young Adult

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