Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale

Detalhes bibliográficos
Autor(a) principal: PIMENTA, Larissa Salustiano Evangelista
Data de Publicação: 2023
Outros Autores: MELO, Cláudia Berlim de, SOARES, Diogo Cordeiro de Queiroz, DANTAS, Anelisa Gollo, MELARAGNO, Maria Isabel, KULIKOWSKI, Leslie Domenici, KIM, Chong Ae
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Estudos de Psicologia (Campinas)
Texto Completo: https://periodicos.puc-campinas.edu.br/estpsi/article/view/7406
Resumo: The 22q11.2 Deletion Syndrome (22q11.2DS), the most common human chromosome microdeletion syndrome, is associated with a very heterogeneous neurocognitive phenotype. One of the main characteristics of the syndrome spectrum is the intellectual variability, which encompasses average performance and intellectual disability and discrepancies between Verbal Intelligence Quotient and Performance Verbal Intelligence Quotient, with greater impairment in nonverbal tasks. The present study aimed at investigating the intellectual performance aspects of a 21children and adolescents sample from Brazil who had been diagnosed with 22q11.2DS, based on the Wechsler Intelligence Scale for Children - 4th edition. The samples were reviewed considering the differences between indices. The results revealed an Full Scale Intelligence Quotient predominant in the borderline range (42 to 104) and a significant discrepancy between the indices of Verbal Comprehension and Perceptual Reasoning in 42% of the sample. With regard to the performance in the subtests alone, a better performance was found in Similarities, whereas block design, matrix reasoning, digit span and letter-number sequencing subtests were the most challenging. These findings indicate that a comprehensive assessment of intellectual performance aspects covering the different measures of the Wechsler Intelligence Scale may contribute to a broader understanding of the neurocognitive phenotype associated with 22q11.2DS.
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spelling Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler ScalePerfi l de desempenho intelectual de uma amostra brasileira de crianças e adolescentes com Síndrome da Deleção 22q11.2 (22q11.2DS) com base na Escala WechslerDiGeorge syndromeGenetics, behavioralNeuropsychologyWechsler ScalesSíndrome de DiGeorgeGenética comportamentalNeuropsicologiaEscalas de WechslerThe 22q11.2 Deletion Syndrome (22q11.2DS), the most common human chromosome microdeletion syndrome, is associated with a very heterogeneous neurocognitive phenotype. One of the main characteristics of the syndrome spectrum is the intellectual variability, which encompasses average performance and intellectual disability and discrepancies between Verbal Intelligence Quotient and Performance Verbal Intelligence Quotient, with greater impairment in nonverbal tasks. The present study aimed at investigating the intellectual performance aspects of a 21children and adolescents sample from Brazil who had been diagnosed with 22q11.2DS, based on the Wechsler Intelligence Scale for Children - 4th edition. The samples were reviewed considering the differences between indices. The results revealed an Full Scale Intelligence Quotient predominant in the borderline range (42 to 104) and a significant discrepancy between the indices of Verbal Comprehension and Perceptual Reasoning in 42% of the sample. With regard to the performance in the subtests alone, a better performance was found in Similarities, whereas block design, matrix reasoning, digit span and letter-number sequencing subtests were the most challenging. These findings indicate that a comprehensive assessment of intellectual performance aspects covering the different measures of the Wechsler Intelligence Scale may contribute to a broader understanding of the neurocognitive phenotype associated with 22q11.2DS.A Síndrome da Deleção 22q11.2 (SD22q11.2), microdeleção cromossômica mais frequente em humanos, é associada a um fenótipo neurocognitivo muito heterogêneo. Uma das principais características do espectro da síndrome é a variabilidade intelectual, que abrange de desempenho médio a deficiência intelectual, bem como discrepâncias entre Quociente de Inteligência Verbal e de Quociente de Inteligência de Execução, com maior prejuízo nas tarefas não verbais. O presente estudo teve por objetivo investigar aspectos do desempenho intelectual de uma amostra brasileira de 21 crianças e adolescentes diagnosticados com SD22q11.2, com base nos indicadores da Wechsler Intelligence Scale for Children – 4th edition. As amostras foram analisadas considerando diferenças entre os índices. Os resultados revelaram predomínio de Quociente de Inteligência Total na faixa limítrofe, entre 42 e 104, assim como discrepância significativa entre os índices de compreensão verbal e organização perceptual em 42% da amostra. No que concerne ao desempenho nos subtestes de forma isolada, um melhor resultado foi verificado em semelhanças, ao passo que cubos, raciocínio matricial, dígitos e sequência de números e letras foram os mais desafiadores. Esses achados indicam que uma avaliação abrangente de aspectos do desempenho intelectual contemplando as diversas medidas da Escala Wechsler de Inteligência pode contribuir para uma compreensão mais ampla do fenótipo neurocognitivo associado à SD22q11.2Núcleo de Editoração - PUC-Campinas2023-02-14info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://periodicos.puc-campinas.edu.br/estpsi/article/view/7406Psychological Studies; Vol. 36 (2019): Estudos de Psicologia (Campinas)Estudos de Psicologia; Vol. 36 (2019): Estudos de Psicologia (Campinas)Estudos de Psicologia; v. 36 (2019): Estudos de Psicologia (Campinas)1982-0275reponame:Estudos de Psicologia (Campinas)instname:Pontifícia Universidade Católica de Campinas (PUC-CAMPINAS)instacron:PUC_CAMPenghttps://periodicos.puc-campinas.edu.br/estpsi/article/view/7406/4958Copyright (c) 2023 Larissa Salustiano Evangelista PIMENTA, Cláudia Berlim de MELO, Diogo Cordeiro de Queiroz SOARES, Anelisa Gollo DANTAS, Maria Isabel MELARAGNO, Leslie Domenici KULIKOWSKI, Chong Ae KIMhttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessPIMENTA, Larissa Salustiano EvangelistaMELO, Cláudia Berlim deSOARES, Diogo Cordeiro de QueirozDANTAS, Anelisa GolloMELARAGNO, Maria Isabel KULIKOWSKI, Leslie DomeniciKIM, Chong Ae2023-02-14T16:22:35Zoai:ojs.periodicos.puc-campinas.edu.br:article/7406Revistahttps://seer.sis.puc-campinas.edu.br/seer/index.php/estudosPRIhttps://seer.sis.puc-campinas.edu.br/seer/index.php/estudos/oaisbi.ne_estpsi@puc-campinas.edu.br||estudosdepsicologia@puc-campinas.edu.br||psychologicalstudies@puc-campinas.edu.br1982-02750103-166Xopendoar:2023-02-14T16:22:35Estudos de Psicologia (Campinas) - Pontifícia Universidade Católica de Campinas (PUC-CAMPINAS)false
dc.title.none.fl_str_mv Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
Perfi l de desempenho intelectual de uma amostra brasileira de crianças e adolescentes com Síndrome da Deleção 22q11.2 (22q11.2DS) com base na Escala Wechsler
title Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
spellingShingle Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
PIMENTA, Larissa Salustiano Evangelista
DiGeorge syndrome
Genetics, behavioral
Neuropsychology
Wechsler Scales
Síndrome de DiGeorge
Genética comportamental
Neuropsicologia
Escalas de Wechsler
title_short Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
title_full Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
title_fullStr Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
title_full_unstemmed Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
title_sort Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
author PIMENTA, Larissa Salustiano Evangelista
author_facet PIMENTA, Larissa Salustiano Evangelista
MELO, Cláudia Berlim de
SOARES, Diogo Cordeiro de Queiroz
DANTAS, Anelisa Gollo
MELARAGNO, Maria Isabel
KULIKOWSKI, Leslie Domenici
KIM, Chong Ae
author_role author
author2 MELO, Cláudia Berlim de
SOARES, Diogo Cordeiro de Queiroz
DANTAS, Anelisa Gollo
MELARAGNO, Maria Isabel
KULIKOWSKI, Leslie Domenici
KIM, Chong Ae
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv PIMENTA, Larissa Salustiano Evangelista
MELO, Cláudia Berlim de
SOARES, Diogo Cordeiro de Queiroz
DANTAS, Anelisa Gollo
MELARAGNO, Maria Isabel
KULIKOWSKI, Leslie Domenici
KIM, Chong Ae
dc.subject.por.fl_str_mv DiGeorge syndrome
Genetics, behavioral
Neuropsychology
Wechsler Scales
Síndrome de DiGeorge
Genética comportamental
Neuropsicologia
Escalas de Wechsler
topic DiGeorge syndrome
Genetics, behavioral
Neuropsychology
Wechsler Scales
Síndrome de DiGeorge
Genética comportamental
Neuropsicologia
Escalas de Wechsler
description The 22q11.2 Deletion Syndrome (22q11.2DS), the most common human chromosome microdeletion syndrome, is associated with a very heterogeneous neurocognitive phenotype. One of the main characteristics of the syndrome spectrum is the intellectual variability, which encompasses average performance and intellectual disability and discrepancies between Verbal Intelligence Quotient and Performance Verbal Intelligence Quotient, with greater impairment in nonverbal tasks. The present study aimed at investigating the intellectual performance aspects of a 21children and adolescents sample from Brazil who had been diagnosed with 22q11.2DS, based on the Wechsler Intelligence Scale for Children - 4th edition. The samples were reviewed considering the differences between indices. The results revealed an Full Scale Intelligence Quotient predominant in the borderline range (42 to 104) and a significant discrepancy between the indices of Verbal Comprehension and Perceptual Reasoning in 42% of the sample. With regard to the performance in the subtests alone, a better performance was found in Similarities, whereas block design, matrix reasoning, digit span and letter-number sequencing subtests were the most challenging. These findings indicate that a comprehensive assessment of intellectual performance aspects covering the different measures of the Wechsler Intelligence Scale may contribute to a broader understanding of the neurocognitive phenotype associated with 22q11.2DS.
publishDate 2023
dc.date.none.fl_str_mv 2023-02-14
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://periodicos.puc-campinas.edu.br/estpsi/article/view/7406
url https://periodicos.puc-campinas.edu.br/estpsi/article/view/7406
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://periodicos.puc-campinas.edu.br/estpsi/article/view/7406/4958
dc.rights.driver.fl_str_mv https://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Núcleo de Editoração - PUC-Campinas
publisher.none.fl_str_mv Núcleo de Editoração - PUC-Campinas
dc.source.none.fl_str_mv Psychological Studies; Vol. 36 (2019): Estudos de Psicologia (Campinas)
Estudos de Psicologia; Vol. 36 (2019): Estudos de Psicologia (Campinas)
Estudos de Psicologia; v. 36 (2019): Estudos de Psicologia (Campinas)
1982-0275
reponame:Estudos de Psicologia (Campinas)
instname:Pontifícia Universidade Católica de Campinas (PUC-CAMPINAS)
instacron:PUC_CAMP
instname_str Pontifícia Universidade Católica de Campinas (PUC-CAMPINAS)
instacron_str PUC_CAMP
institution PUC_CAMP
reponame_str Estudos de Psicologia (Campinas)
collection Estudos de Psicologia (Campinas)
repository.name.fl_str_mv Estudos de Psicologia (Campinas) - Pontifícia Universidade Católica de Campinas (PUC-CAMPINAS)
repository.mail.fl_str_mv sbi.ne_estpsi@puc-campinas.edu.br||estudosdepsicologia@puc-campinas.edu.br||psychologicalstudies@puc-campinas.edu.br
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