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Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes

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Abstract

Broader phenotypes associated with genetic liability, including mild difficulties with pragmatic language skills, have been documented in mothers of children with autism spectrum disorder (ASD) and mothers of children with fragile X syndrome (FXS). This study investigated the relationship between pragmatic difficulties and indicators of maternal well-being and family functioning. Pragmatic difficulty was associated with loneliness in mothers of children with ASD or FXS, and with depression, decreased life satisfaction, and poorer family relationship quality in mothers of children with FXS only. Results inform subtle maternal pragmatic language difficulties as a risk factor that that may contribute to reduced health and well-being, informing tailored support services to better meet the unique needs of families of children with ASD or FXS.

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Acknowledgments

The authors gratefully acknowledge the families who participated in the project. The authors also thank Dr. Jane Roberts and her research team for support with data collection. This work was supported by National Institutes of Health grants F32DC013934, R21DC017804, and R03HD098291 awarded to Jessica Klusek; R01HD024356 and P50HD103526 awarded to Leonard Abbeduto; R01MH107573 awarded to Jane Roberts; by the Research Participant Registry Core of the Carolina Institute for Developmental Disabilities (U54HD079124). Support was also provided by an ASPIRE-I grant awarded to Jessica Klusek from the Office of the Vice President for Research at the University of South Carolina. An earlier version of this work was presented at the Annual Gatlinburg Conference for Research in Intellectual and Developmental Disabilities in March of 2019.

Funding

This research was supported by National Institutes of Health grants F32DC013934, R21DC017804, and R03HD098291 awarded to Jessica Klusek; R01HD024356 and P50HD103526 awarded to Leonard Abbeduto; R01MH107573 awarded to Jane Roberts; by the Research Participant Registry Core of the Carolina Institute for Developmental Disabilities (U54HD079124). Support was also provided by an ASPIRE-I grant awarded by the Office of the Vice President for Research at the University of South Carolina.

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Authors and Affiliations

  1. Department of Communication Sciences and Disorders, University of South Carolina, 1705 College Street, Columbia, SC, 29208, USA

    Jessica Klusek

  2. Department of Psychiatry and Behavioral Sciences and MIND Institute, University of California Davis Health, 2825 50th Street, Room 2335, Sacramento, CA, 95817, USA

    Angela John Thurman & Leonard Abbeduto

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  1. Jessica Klusek
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  2. Angela John Thurman
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  3. Leonard Abbeduto
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Contributions

Study conception, design, data analysis was performed by JK. All authors contributed to data collection. The first draft of the manuscript was written by JK and all authors commented on previous versions of the manuscript and read and approved the final manuscript.

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Correspondence to Jessica Klusek.

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Conflict of interest

Leonard Abbeduto has received funding to develop and implement outcome measures for clinical trials from F. Hoffman-LaRoche, Ltd., Roche TCRC, Inc., and Neuren Pharmaceuticals Limited, Inc. No other authors have conflicts or financial disclosures to declare. Angela John Thurman has received funding to develop and implement outcome measures from Fulcrum Therapeutics.

Ethical Approval

All procedures were performed in accordance with the standards laid out by the Declaration of Helsinki and its later amendments or comparable ethical standards. This study was approved by the Institutional Review Boards of the University of South Carolina and the University of California Davis Health. This article does not contain any studies with animals performed by any of the authors.

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Informed consent was obtained for all participants included in the study.

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Klusek, J., Thurman, A.J. & Abbeduto, L. Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes. J Autism Dev Disord 52, 835–851 (2022). https://doi.org/10.1007/s10803-021-04980-3

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