Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers

Introduction: Premutation expansions (55–200 CGG repeats) of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome are associated with a range of clinical features. Apart from the most severe - Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) - where the most typical white matter cha...

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Autores principales:	Darren R. Hocking, Danuta Z. Loesch, Paige Stimpson, Flora Tassone, Anna Atkinson, Elsdon Storey
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	fragile X premutation response inhibition executive function psychiatric symptoms ataxia cerebellum Psychiatry RC435-571
Acceso en línea:	https://doaj.org/article/056f60fbda4f46bcac9b85ec8e2c3c73
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spelling	oai:doaj.org-article:056f60fbda4f46bcac9b85ec8e2c3c732021-12-03T05:17:04ZDelineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers1664-064010.3389/fpsyt.2021.742929https://doaj.org/article/056f60fbda4f46bcac9b85ec8e2c3c732021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fpsyt.2021.742929/fullhttps://doaj.org/toc/1664-0640Introduction: Premutation expansions (55–200 CGG repeats) of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome are associated with a range of clinical features. Apart from the most severe - Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) - where the most typical white matter changes affect cerebellar peduncles, more subtle changes may include impairment of executive functioning, affective disorders and/or subtle motor changes. Here we aimed to examine whether performance in selected components of executive functioning is associated with subclinical psychiatric symptoms in non-FXTAS, adult females carrying the FMR1 premutation.Methods and Sample: A total of 47 female premutation carriers (sub-symptomatic for FXTAS) of wide age range (26–77 years; M = 50.3; SD = 10.9) were assessed using standard neuropsychological tests, three motor rating scales and self-reported measures of psychiatric symptoms using the Symptom Checklist-90-Revised (SCL-90-R).Results: After adjusting for age and educational level where appropriate, both non-verbal reasoning and response inhibition as assessed on the Stroop task (i.e., the ability to resolve cognitive interference) were associated with a range of primary psychiatric symptom dimensions, and response inhibition uniquely predicted some primary symptoms and global psychiatric features. Importantly, lower scores (worse performance) in response inhibition were also strongly correlated with higher (worse) scores on standard motor rating scales for tremor-ataxia and for parkinsonism.Conclusion: These results provide evidence for the importance of response inhibition in the manifestation of psychiatric symptoms and subtle tremor-ataxia motor features, suggestive of the presence of early cerebellar changes in female premutation carriers.Darren R. HockingDanuta Z. LoeschPaige StimpsonFlora TassoneAnna AtkinsonElsdon StoreyFrontiers Media S.A.articlefragile X premutationresponse inhibitionexecutive functionpsychiatric symptomsataxiacerebellumPsychiatryRC435-571ENFrontiers in Psychiatry, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	fragile X premutation response inhibition executive function psychiatric symptoms ataxia cerebellum Psychiatry RC435-571
spellingShingle	fragile X premutation response inhibition executive function psychiatric symptoms ataxia cerebellum Psychiatry RC435-571 Darren R. Hocking Danuta Z. Loesch Paige Stimpson Flora Tassone Anna Atkinson Elsdon Storey Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers
description	Introduction: Premutation expansions (55–200 CGG repeats) of the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome are associated with a range of clinical features. Apart from the most severe - Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) - where the most typical white matter changes affect cerebellar peduncles, more subtle changes may include impairment of executive functioning, affective disorders and/or subtle motor changes. Here we aimed to examine whether performance in selected components of executive functioning is associated with subclinical psychiatric symptoms in non-FXTAS, adult females carrying the FMR1 premutation.Methods and Sample: A total of 47 female premutation carriers (sub-symptomatic for FXTAS) of wide age range (26–77 years; M = 50.3; SD = 10.9) were assessed using standard neuropsychological tests, three motor rating scales and self-reported measures of psychiatric symptoms using the Symptom Checklist-90-Revised (SCL-90-R).Results: After adjusting for age and educational level where appropriate, both non-verbal reasoning and response inhibition as assessed on the Stroop task (i.e., the ability to resolve cognitive interference) were associated with a range of primary psychiatric symptom dimensions, and response inhibition uniquely predicted some primary symptoms and global psychiatric features. Importantly, lower scores (worse performance) in response inhibition were also strongly correlated with higher (worse) scores on standard motor rating scales for tremor-ataxia and for parkinsonism.Conclusion: These results provide evidence for the importance of response inhibition in the manifestation of psychiatric symptoms and subtle tremor-ataxia motor features, suggestive of the presence of early cerebellar changes in female premutation carriers.
format	article
author	Darren R. Hocking Danuta Z. Loesch Paige Stimpson Flora Tassone Anna Atkinson Elsdon Storey
author_facet	Darren R. Hocking Danuta Z. Loesch Paige Stimpson Flora Tassone Anna Atkinson Elsdon Storey
author_sort	Darren R. Hocking
title	Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers
title_short	Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers
title_full	Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers
title_fullStr	Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers
title_full_unstemmed	Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers
title_sort	delineating the relationships between motor, cognitive-executive and psychiatric symptoms in female fmr1 premutation carriers
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/056f60fbda4f46bcac9b85ec8e2c3c73
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Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers

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