Evidence map›Paper›PMID 31887710›Full record

ArticleBrain and cognition2020

Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.

Jessica Klusek, Jinkuk Hong, Audra Sterling, Elizabeth Berry-Kravis, Marsha R Mailick

Open access · greenAbstract read
In one paragraph

Article in Brain and cognition, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed
2.7field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

33 citing papers in PubMed, 29 citations in OpenAlex.

  1. Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026
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  3. Cognitive dysfunction in women with theJournal of Alzheimer's disease : JAD · 2026
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  7. Cognitive-behavioral phenotypes inFrontiers in molecular neuroscience · 2026
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  8. Article
  9. Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20-75 Years of Age.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025
    Article
  10. Reduced Respiratory Sinus Arrhythmia in Infants with theInternational journal of molecular sciences · 2025
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  12. Review
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  16. Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.American journal on intellectual and developmental disabilities · 2023
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  17. Article
  18. FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.American journal on intellectual and developmental disabilities · 2023
    Article
  19. Sensorimotor and inhibitory control in agingFrontiers in human neuroscience · 2023
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 3 institutions in 1 country.

Jessica KlusekDepartment of Communication Sciences and Disorders, University of South Carolina, 1705 College Street, Columbia, SC 29208, USA.
Jinkuk HongWaisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI 53705, USA.
Audra SterlingWaisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI 53705, USA; Department of Communication Sciences and Disorders, University of Wisconsin-Madison, 381 Goodnight Hall, 1975 Willow Drive, Madison, WI 53706, USA.
Elizabeth Berry-KravisDepartment of Pediatrics, Neurological Sciences and Biochemistry, Rush University Medical Center, 1725 West Harrison Street, Suite 718, Chicago, IL 60612, USA.
Marsha R MailickWaisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI 53705, USA. Electronic address: marsha.mailick@wisc.edu.
University of Wisconsin–Madison · USRush University Medical Center · USUniversity of South Carolina · US

Funding

Waisman Intellectual and Developmental Disabilities Research Center Down Syndrome RegistryU54HD090256 · NICHD · UNIVERSITY OF WISCONSIN-MADISON · PI MESSING, ALBEE · 2016 to 2020
$6.0M
FMR1 Premutation Phenotypes in Population-Based & Clinically-Ascertained SamplesR01HD082110 · NICHD · UNIVERSITY OF WISCONSIN-MADISON · PI Leann Smith DaWalt, MARSHA RUTH MAILICK · 2015 to 2026
$5.1M
Defining the Language Phenotype of the FMR1 PremutationR21DC017804 · NIDCD · UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA · PI KLUSEK, JESSICA · 2019 to 2021
$684k
Aging Language Trajectories in Premutation Carrier MothersR03HD098291 · NICHD · UNIVERSITY OF SOUTH CAROLINA AT COLUMBIA · PI KLUSEK, JESSICA · 2019 to 2020
$149k
NICHD NIH HHS R01 HD082110NICHD NIH HHS R03 HD098291NICHD NIH HHS U54 HD090256NIDCD NIH HHS R21 DC017804
6 · The paper itself

Abstract

Individuals who carry a premutation (PM) allele on the FMR1 gene may experience executive limitations associated with their genetic status, including inhibition deficits. However, poor understanding of individualized risk factors has limited clinical management of this group, particularly in mothers who carry the PM allele who have children with fragile X syndrome (FXS). The present study examined CGG repeat length and age as factors that may account for variable expressivity of inhibition deficits. Participants were 134 carriers of the PM allele who were mothers of children with FXS. Inhibition skills were measured using both self-report and direct behavioral assessments. Increased vulnerability for inhibition deficits was observed at mid-range CGG lengths of approximately 80-100 repeats, with some evidence of a second zone of vulnerability occurring at approximately 130-140 CGG repeats. Risk associated with the genotype also became more pronounced with older age. This study identifies personalized risk factors that may be used to tailor the clinical management of executive deficits in carriers of the PM allele. Inhibition deficits may contribute to poor outcomes in carriers of the PM allele and their families, particularly in midlife and early old age, and clinical monitoring may be warranted.

Indexed as

Executive FunctionHeterozygoteInhibition, PsychologicalTrinucleotide Repeat ExpansionAdultAgedAged, 80 and overAge FactorsAllelesFemaleFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeGenotypeHumansMiddle AgedMothersFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1age effectsexecutive dysfunctionFMR1 premutationfragile X premutation carriermid-range CGG

Identifiers

PMID31887710
PMCPMC6954879
OpenAlexW2998024089

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.