Word Retrieval Difficulty in Adult Females with the FMR1 Premutation: Changes over Time and Across Contexts

Overview

Journal Brain Cogn

Specialties Neurology
Psychiatry

Date 2021 Jan 27

PMID 33503544

Citations 6

Authors

Shelley L Bredin-Oja

Steven F Warren

Rebecca E Swinburne Romine

Kandace K Fleming

Nancy Brady

Elizbeth Berry-Kravis

Affiliations

Soon will be listed here.

Abstract

Individuals with a premutation of the fragile X mental retardation (FMR1) gene are at risk for a variety of psychological, physical, and cognitive issues, including difficulty with word retrieval. The present study examined three indicators of word retrieval difficulty; reduced productivity, reduced lexical diversity, and increased errors in word retrieval in a group of 38 female premutation carriers during standard-length speech samples collected over a period of eight years. Our results revealed that as women aged, they produced fewer words, produced fewer different words, and had greater word retrieval errors. In addition, the rate of word retrieval errors was highly correlated between two speaking contexts, indicating that this difficulty was pervasive and not solely the result of speaking in monologue. Our results suggest that subtle areas of cognitive decline emerge at a much earlier age among female premutation carriers than would be expected during healthy aging.

Citing Articles

Language use predicts symptoms of fragile X-associated tremor/ataxia syndrome in men and women with the FMR1 premutation.

Maltman N, Sterling A, Santos E, Hagerman R Sci Rep. 2024; 14(1):20707.

PMID: 39237554 PMC: 11377817. DOI: 10.1038/s41598-024-70810-y.

Social Communication Delay in an Unbiased Sample of Preschoolers With the Premutation.

Klusek J, Will E, Christensen T, Caravella K, Hogan A, Sun J J Speech Lang Hear Res. 2024; 67(7):2316-2332.

PMID: 38889222 PMC: 11253810. DOI: 10.1044/2024_JSLHR-23-00580.

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on Premutation.

Tassone F, Protic D, Allen E, Archibald A, Baud A, Brown T Cells. 2023; 12(18).

PMID: 37759552 PMC: 10529056. DOI: 10.3390/cells12182330.

Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.

Dembo R, Hong J, DaWalt L, Berry-Kravis E, Mailick M Am J Intellect Dev Disabil. 2023; 128(3):254-268.

PMID: 37104861 PMC: 10506164. DOI: 10.1352/1944-7558-128.3.254.

Family as a Context for Child Development: Mothers with the FMR1 Premutation and Their Children with Fragile X Syndrome.

Bangert K, Moser C, Friedman L, Klusek J Semin Speech Lang. 2021; 42(4):277-286.

PMID: 34311480 PMC: 11298790. DOI: 10.1055/s-0041-1730988.

References

Cooper P . Discourse production and normal aging: performance on oral picture description tasks. J Gerontol. 1990; 45(5):P210-4. DOI: 10.1093/geronj/45.5.p210. View

Magana A, Goldstein J, Karno M, Miklowitz D, Jenkins J, Falloon I . A brief method for assessing expressed emotion in relatives of psychiatric patients. Psychiatry Res. 1986; 17(3):203-12. DOI: 10.1016/0165-1781(86)90049-1. View

Kave G, Goral M . Do age-related word retrieval difficulties appear (or disappear) in connected speech?. Neuropsychol Dev Cogn B Aging Neuropsychol Cogn. 2016; 24(5):508-527. PMC: 6204153. DOI: 10.1080/13825585.2016.1226249. View

Castro N, James L . Differences between young and older adults' spoken language production in descriptions of negative versus neutral pictures. Neuropsychol Dev Cogn B Aging Neuropsychol Cogn. 2013; 21(2):222-38. DOI: 10.1080/13825585.2013.804902. View

Schmitter-Edgecombe M, Vesneski M, Jones D . Aging and word-finding: a comparison of spontaneous and constrained naming tests. Arch Clin Neuropsychol. 2003; 15(6):479-93. View

Smith L, Seltzer M, Greenberg J . Daily health symptoms of mothers of adolescents and adults with fragile x syndrome and mothers of adolescents and adults with autism spectrum disorder. J Autism Dev Disord. 2011; 42(9):1836-46. PMC: 3426638. DOI: 10.1007/s10803-011-1422-7. View

Lachiewicz A, Dawson D, Spiridigliozzi G, McConkie-Rosell A . Arithmetic difficulties in females with the fragile X premutation. Am J Med Genet A. 2006; 140(7):665-72. DOI: 10.1002/ajmg.a.31082. View

Sullivan S, Welt C, Sherman S . FMR1 and the continuum of primary ovarian insufficiency. Semin Reprod Med. 2011; 29(4):299-307. DOI: 10.1055/s-0031-1280915. View

Hagerman R, Hagerman P . Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol. 2013; 12(8):786-98. PMC: 3922535. DOI: 10.1016/S1474-4422(13)70125-X. View

10.

Goodrich-Hunsaker N, Wong L, McLennan Y, Srivastava S, Tassone F, Harvey D . Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments. Brain Cogn. 2011; 75(3):255-60. PMC: 3050049. DOI: 10.1016/j.bandc.2011.01.001. View

11.

Johnson K, Herring J, Richstein J . Fragile X Premutation Associated Conditions (FXPAC). Front Pediatr. 2020; 8:266. PMC: 7267017. DOI: 10.3389/fped.2020.00266. View

12.

Maenner M, Baker M, Broman K, Tian J, Barnes J, Atkins A . FMR1 CGG expansions: prevalence and sex ratios. Am J Med Genet B Neuropsychiatr Genet. 2013; 162B(5):466-73. PMC: 3885228. DOI: 10.1002/ajmg.b.32176. View

13.

Berry-Kravis E, Hall D . Executive dysfunction in young FMR1 premutation carriers: forme fruste of FXTAS or new phenotype?. Neurology. 2011; 77(7):612-3. DOI: 10.1212/WNL.0b013e3182299f98. View

14.

Warren S, Brady N, Sterling A, Fleming K, Marquis J . Maternal responsivity predicts language development in young children with fragile X syndrome. Am J Intellect Dev Disabil. 2009; 115(1):54-75. PMC: 3045825. DOI: 10.1352/1944-7558-115.1.54. View

15.

Roberts J, Tonnsen B, McCary L, Ford A, Golden R, Bailey Jr D . Trajectory and Predictors of Depression and Anxiety Disorders in Mothers With the FMR1 Premutation. Biol Psychiatry. 2015; 79(10):850-857. PMC: 4733592. DOI: 10.1016/j.biopsych.2015.07.015. View

16.

Hagerman R, Protic D, Rajaratnam A, Salcedo-Arellano M, Aydin E, Schneider A . Fragile X-Associated Neuropsychiatric Disorders (FXAND). Front Psychiatry. 2018; 9:564. PMC: 6243096. DOI: 10.3389/fpsyt.2018.00564. View

17.

Ennis S, Ward D, Murray A . Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genet. 2005; 14(2):253-5. PMC: 3725422. DOI: 10.1038/sj.ejhg.5201510. View

18.

Dennis P, Hess T . Aging-related gains and losses associated with word production in connected speech. Neuropsychol Dev Cogn B Aging Neuropsychol Cogn. 2016; 23(6):638-50. DOI: 10.1080/13825585.2016.1158233. View

19.

Goodrich-Hunsaker N, Wong L, McLennan Y, Tassone F, Harvey D, Rivera S . Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task. Front Hum Neurosci. 2011; 5:63. PMC: 3139190. DOI: 10.3389/fnhum.2011.00063. View

20.

Sullivan A, Marcus M, Epstein M, Allen E, Anido A, Paquin J . Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod. 2004; 20(2):402-12. DOI: 10.1093/humrep/deh635. View