Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles

Detalhes bibliográficos
Autor(a) principal: Martins,Aline Aparecida Silva
Data de Publicação: 2022
Outros Autores: Paiva,Giulia Moreira, Matosinho,Carolina Guimarães Ramos, Coser,Elisângela Monteiro, Fonseca,Pablo Augusto de Souza, Haase,Vitor Geraldi, Carvalho,Maria Raquel Santos
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Dementia & Neuropsychologia
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642022000100105
Resumo: ABSTRACT. Expansive mutations in familial mental retardation 1 (FMR1) gene have been associated with different phenotypes. Full mutations are associated with intellectual disability and autism spectrum disorder; premutations are associated with math learning difficulties and working memory impairments. In gray zone, neuropsychological development has not yet been described. Objectives: This study aimed to describe the frequency of FMR1 premutation and gray zone alleles in a school population sample representing a broad spectrum of variation in math achievement and detail school achievement and cognitive performance in the children identified with FMR1 premutation or gray zone alleles. Methods: We described a two-phase study. In the first phase, 2,195 school-age children were screened for math achievement. In the second phase, 378 children with normal intelligence were neuropsychologically assessed and genotyped for FMR1. Of these, 121 children (61 girls) performed below percentile 25 in mathematics (MD group) and 257 children (146 girls) performed above percentile 25 (control group). Results: Four pupils presented expanded alleles, one premutation and three gray zone alleles. The girl with the premutation and one boy with a gray zone allele presented impairments in working memory and arithmetic performance below percentile 6, compatible with the diagnosis of developmental dyscalculia. These children’s difficulties were not associated with inaccuracy of nonsymbolic number representations or literacy impairments. Dyscalculia in these children seems to be associated mainly with working memory impairments. Conclusions: FMR1 expansions in the gray zone may contribute to dyscalculia in otherwise healthy and normally intelligent children.
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spelling Working memory and arithmetic impairments in children with FMR1 premutation and gray zone allelesLearningDyscalculiaWorking MemoryFMR1ABSTRACT. Expansive mutations in familial mental retardation 1 (FMR1) gene have been associated with different phenotypes. Full mutations are associated with intellectual disability and autism spectrum disorder; premutations are associated with math learning difficulties and working memory impairments. In gray zone, neuropsychological development has not yet been described. Objectives: This study aimed to describe the frequency of FMR1 premutation and gray zone alleles in a school population sample representing a broad spectrum of variation in math achievement and detail school achievement and cognitive performance in the children identified with FMR1 premutation or gray zone alleles. Methods: We described a two-phase study. In the first phase, 2,195 school-age children were screened for math achievement. In the second phase, 378 children with normal intelligence were neuropsychologically assessed and genotyped for FMR1. Of these, 121 children (61 girls) performed below percentile 25 in mathematics (MD group) and 257 children (146 girls) performed above percentile 25 (control group). Results: Four pupils presented expanded alleles, one premutation and three gray zone alleles. The girl with the premutation and one boy with a gray zone allele presented impairments in working memory and arithmetic performance below percentile 6, compatible with the diagnosis of developmental dyscalculia. These children’s difficulties were not associated with inaccuracy of nonsymbolic number representations or literacy impairments. Dyscalculia in these children seems to be associated mainly with working memory impairments. Conclusions: FMR1 expansions in the gray zone may contribute to dyscalculia in otherwise healthy and normally intelligent children.Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento2022-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642022000100105Dementia & Neuropsychologia v.16 n.1 2022reponame:Dementia & Neuropsychologiainstname:Associação de Neurologia Cognitiva e do Comportamento (ANCC)instacron:ANCC10.1590/1980-5764-dn-2021-0035info:eu-repo/semantics/openAccessMartins,Aline Aparecida SilvaPaiva,Giulia MoreiraMatosinho,Carolina Guimarães RamosCoser,Elisângela MonteiroFonseca,Pablo Augusto de SouzaHaase,Vitor GeraldiCarvalho,Maria Raquel Santoseng2022-04-06T00:00:00Zoai:scielo:S1980-57642022000100105Revistahttp://www.demneuropsy.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||demneuropsy@uol.com.br1980-57641980-5764opendoar:2022-04-06T00:00Dementia & Neuropsychologia - Associação de Neurologia Cognitiva e do Comportamento (ANCC)false
dc.title.none.fl_str_mv Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
title Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
spellingShingle Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
Martins,Aline Aparecida Silva
Learning
Dyscalculia
Working Memory
FMR1
title_short Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
title_full Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
title_fullStr Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
title_full_unstemmed Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
title_sort Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
author Martins,Aline Aparecida Silva
author_facet Martins,Aline Aparecida Silva
Paiva,Giulia Moreira
Matosinho,Carolina Guimarães Ramos
Coser,Elisângela Monteiro
Fonseca,Pablo Augusto de Souza
Haase,Vitor Geraldi
Carvalho,Maria Raquel Santos
author_role author
author2 Paiva,Giulia Moreira
Matosinho,Carolina Guimarães Ramos
Coser,Elisângela Monteiro
Fonseca,Pablo Augusto de Souza
Haase,Vitor Geraldi
Carvalho,Maria Raquel Santos
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Martins,Aline Aparecida Silva
Paiva,Giulia Moreira
Matosinho,Carolina Guimarães Ramos
Coser,Elisângela Monteiro
Fonseca,Pablo Augusto de Souza
Haase,Vitor Geraldi
Carvalho,Maria Raquel Santos
dc.subject.por.fl_str_mv Learning
Dyscalculia
Working Memory
FMR1
topic Learning
Dyscalculia
Working Memory
FMR1
description ABSTRACT. Expansive mutations in familial mental retardation 1 (FMR1) gene have been associated with different phenotypes. Full mutations are associated with intellectual disability and autism spectrum disorder; premutations are associated with math learning difficulties and working memory impairments. In gray zone, neuropsychological development has not yet been described. Objectives: This study aimed to describe the frequency of FMR1 premutation and gray zone alleles in a school population sample representing a broad spectrum of variation in math achievement and detail school achievement and cognitive performance in the children identified with FMR1 premutation or gray zone alleles. Methods: We described a two-phase study. In the first phase, 2,195 school-age children were screened for math achievement. In the second phase, 378 children with normal intelligence were neuropsychologically assessed and genotyped for FMR1. Of these, 121 children (61 girls) performed below percentile 25 in mathematics (MD group) and 257 children (146 girls) performed above percentile 25 (control group). Results: Four pupils presented expanded alleles, one premutation and three gray zone alleles. The girl with the premutation and one boy with a gray zone allele presented impairments in working memory and arithmetic performance below percentile 6, compatible with the diagnosis of developmental dyscalculia. These children’s difficulties were not associated with inaccuracy of nonsymbolic number representations or literacy impairments. Dyscalculia in these children seems to be associated mainly with working memory impairments. Conclusions: FMR1 expansions in the gray zone may contribute to dyscalculia in otherwise healthy and normally intelligent children.
publishDate 2022
dc.date.none.fl_str_mv 2022-03-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642022000100105
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642022000100105
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1980-5764-dn-2021-0035
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento
publisher.none.fl_str_mv Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento
dc.source.none.fl_str_mv Dementia & Neuropsychologia v.16 n.1 2022
reponame:Dementia & Neuropsychologia
instname:Associação de Neurologia Cognitiva e do Comportamento (ANCC)
instacron:ANCC
instname_str Associação de Neurologia Cognitiva e do Comportamento (ANCC)
instacron_str ANCC
institution ANCC
reponame_str Dementia & Neuropsychologia
collection Dementia & Neuropsychologia
repository.name.fl_str_mv Dementia & Neuropsychologia - Associação de Neurologia Cognitiva e do Comportamento (ANCC)
repository.mail.fl_str_mv ||demneuropsy@uol.com.br
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