Neurobehavioral Effects of the Fragile X Premutation in Adult Women: a Controlled Study

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1993 May 1

PMID 8488838

Citations 38

Authors

A L Reiss

L Freund

M T Abrams

C Boehm

H KAZAZIAN

Affiliations

Soon will be listed here.

Abstract

Although previous studies have suggested that the fragile X premutation (fra [X] pM) does not cause deleterious effects, methodological constraints have prevented more definitive conclusions from being reached. In this report, we describe the neuropsychiatric and cognitive-neuropsychological status of 34 adult women with the fra (X) pM, as compared with a well-matched control group of 41 mothers of fra (X)-negative children with developmental disability. The results indicate that there are no meaningful differences between adult women with the fra (X) pM and control subjects with respect to cognitive abilities or profile, neuropsychological function, psychiatric diagnoses or symptoms, and self-rated personality profile. No measure for either group showed evidence of functioning outside the normal range except for a high lifetime prevalence of major depression in both groups. Additional exploratory analyses within the fra (X) group showed no significant effect of either the size of the fra (X) insert or X chromosome inactivation pattern in leukocytes, on any measure of neurobehavioral function. These findings provide additional information to professionals providing genetic counseling to, and assessment of, fra (X) families.

Citing Articles

Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene.

Vafaeie F, Alerasool M, Mojaver N, Mojarrad M Cureus. 2021; 13(7):e16340.

PMID: 34395123 PMC: 8357243. DOI: 10.7759/cureus.16340.

Response Inhibition Deficits in Women with the FMR1 Premutation are Associated with Age and Fall Risk.

Moser C, Schmitt L, Schmidt J, Fairchild A, Klusek J Brain Cogn. 2021; 148:105675.

PMID: 33387817 PMC: 7945960. DOI: 10.1016/j.bandc.2020.105675.

Feasibility of a Complex Setting for Assessing Sleep and Circadian Rhythmicity in a Fragile X Cohort.

Dueck A, Reis O, Bastian M, van Treeck L, Weirich S, Haessler F Front Psychiatry. 2020; 11:361.

PMID: 32477175 PMC: 7240033. DOI: 10.3389/fpsyt.2020.00361.

Molecular Characterization of FMR1 Gene by TP-PCR in Women of Reproductive Age and Women with Premature Ovarian Insufficiency.

Dean D, Agarwal S, Kapoor D, Singh K, Vati C Mol Diagn Ther. 2017; 22(1):91-100.

PMID: 29188551 DOI: 10.1007/s40291-017-0305-9.

Implications of the Premutation for Children, Adolescents, Adults, and Their Families.

Wheeler A, Raspa M, Hagerman R, Mailick M, Riley C Pediatrics. 2017; 139(Suppl 3):S172-S182.

PMID: 28814538 PMC: 5621635. DOI: 10.1542/peds.2016-1159D.

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