Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , , , |
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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Dementia & Neuropsychologia |
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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 |
_version_ |
1754212932856578048 |