Numerical Processing Impairment in 22q11.2 (LCR22-4 to LCR22-5) Microdeletion: A Cognitive-Neuropsychological Case Study
Although progress has been made, the cognitive, biological and, particularly, the genetic underpinnings of math learning difficulties (MD) remain largely unknown. This difficulty stems from the heterogeneity of MD and from the large contribution of environmental factors to its etiology. Understandin...
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Frontiers Media S.A.
2018-11-01
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| Series: | Frontiers in Psychology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fpsyg.2018.02193/full |
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| author | Lívia de Fátima Silva Oliveira Lívia de Fátima Silva Oliveira Annelise Júlio-Costa Fernanda Caroline dos Santos Maria Raquel Santos Carvalho Vitor Geraldi Haase Vitor Geraldi Haase Vitor Geraldi Haase Vitor Geraldi Haase Vitor Geraldi Haase |
| author_facet | Lívia de Fátima Silva Oliveira Lívia de Fátima Silva Oliveira Annelise Júlio-Costa Fernanda Caroline dos Santos Maria Raquel Santos Carvalho Vitor Geraldi Haase Vitor Geraldi Haase Vitor Geraldi Haase Vitor Geraldi Haase Vitor Geraldi Haase |
| author_sort | Lívia de Fátima Silva Oliveira |
| collection | DOAJ |
| description | Although progress has been made, the cognitive, biological and, particularly, the genetic underpinnings of math learning difficulties (MD) remain largely unknown. This difficulty stems from the heterogeneity of MD and from the large contribution of environmental factors to its etiology. Understanding endophenotypes, e.g., the role of the Approximate Number System (ANS), may help understanding the nature of MD. MD associated with ANS impairments has been described in some genetic conditions, e.g., 22q11.2 deletion syndrome (22q11.2DS or Velocardiofacial syndrome, VCFS). Recently, a girl with MD was identified in a school population screening. She has a new syndrome resulting from a microdeletion in 22q11.2 (LCR22-4 to LCR22-5), a region adjacent to but not overlapping with region 22q11.2 (LCR22-2 to LCR22-4), typically deleted in VCFS. Here, we describe her cognitive-neuropsychological and numerical-cognitive profiles. The girl was assessed twice, at 8 and 11 years. Her numerical-cognitive performance at both times was compared to demographically similar girls with normal intelligence in a single-case, quasi-experimental study. Neuropsychological assessment was normal, except for relatively minor impairments in executive functions. She presented severe and persistent difficulties in the simplest single-digit calculations. Difficulties in commutative operations improved from the first to the second assessment. Difficulties in subtraction persisted and were severe. No difficulties were observed in Arabic number writing. Difficulties in single-digit calculation co-occurred with basic numerical processing impairments in symbolic and non-symbolic (single-digit comparison, dot sets size comparison and estimation) tasks. Her difficulties suggest ANS impairment. No difficulties were detected in visuospatial/visuoconstructional and in phonological processing tasks. The main contributions of the present study are: (a) this is the first characterization of the neuropsychological phenotype in 22q11.2DS (LCR22-4 to LCR22.5) with normal intelligence; (b) mild forms of specific genetic conditions contribute to persistent MD in otherwise typical persons; (c) heterogeneity of neurogenetic underpinnings of MD is suggested by poor performance in non-symbolic numerical processing, dissociated from visuospatial/visuoconstructional and phonological impairments; (d) similar to what happens in 22q11.2DS (LCR22-2 to LCR22-4), ANS impairments may also characterize 22q11.2DS (LCR22-4 to LCR22-5). |
| first_indexed | 2024-12-11T06:48:17Z |
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| issn | 1664-1078 |
| language | English |
| last_indexed | 2024-12-11T06:48:17Z |
| publishDate | 2018-11-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Psychology |
| spelling | doaj.art-a7d1ea919f0c44d48203774a830d69742022-12-22T01:17:00ZengFrontiers Media S.A.Frontiers in Psychology1664-10782018-11-01910.3389/fpsyg.2018.02193392122Numerical Processing Impairment in 22q11.2 (LCR22-4 to LCR22-5) Microdeletion: A Cognitive-Neuropsychological Case StudyLívia de Fátima Silva Oliveira0Lívia de Fátima Silva Oliveira1Annelise Júlio-Costa2Fernanda Caroline dos Santos3Maria Raquel Santos Carvalho4Vitor Geraldi Haase5Vitor Geraldi Haase6Vitor Geraldi Haase7Vitor Geraldi Haase8Vitor Geraldi Haase9Laboratório de Neuropsicologia do Desenvolvimento, Departamento de Psicologia, Universidade Federal de Minas Gerais, Belo Horizonte, BrazilPrograma de Pós-Graduação em Neurociências, Universidade Federal de Minas Gerais, Belo Horizonte, BrazilLaboratório de Neuropsicologia do Desenvolvimento, Departamento de Psicologia, Universidade Federal de Minas Gerais, Belo Horizonte, BrazilPrograma de Pós-Graduação em Genética, Universidade Federal de Minas Gerais, Belo Horizonte, BrazilDepartamento de Biologia Geral, Universidade Federal de Minas Gerais, Belo Horizonte, BrazilLaboratório de Neuropsicologia do Desenvolvimento, Departamento de Psicologia, Universidade Federal de Minas Gerais, Belo Horizonte, BrazilPrograma de Pós-Graduação em Neurociências, Universidade Federal de Minas Gerais, Belo Horizonte, BrazilPrograma de Pós-graduação em Psicologia, Cognição e Comportamento, Universidade Federal de Minas Gerais, Belo Horizonte, BrazilPrograma de Pós-graduação em Saúde da Criança e do Adolescente, Universidade Federal de Minas Gerais, Belo Horizonte, BrazilInstituto Nacional de Ciência e Tecnologia sobre Comportamento, Cognição e Ensino, São Carlos, BrazilAlthough progress has been made, the cognitive, biological and, particularly, the genetic underpinnings of math learning difficulties (MD) remain largely unknown. This difficulty stems from the heterogeneity of MD and from the large contribution of environmental factors to its etiology. Understanding endophenotypes, e.g., the role of the Approximate Number System (ANS), may help understanding the nature of MD. MD associated with ANS impairments has been described in some genetic conditions, e.g., 22q11.2 deletion syndrome (22q11.2DS or Velocardiofacial syndrome, VCFS). Recently, a girl with MD was identified in a school population screening. She has a new syndrome resulting from a microdeletion in 22q11.2 (LCR22-4 to LCR22-5), a region adjacent to but not overlapping with region 22q11.2 (LCR22-2 to LCR22-4), typically deleted in VCFS. Here, we describe her cognitive-neuropsychological and numerical-cognitive profiles. The girl was assessed twice, at 8 and 11 years. Her numerical-cognitive performance at both times was compared to demographically similar girls with normal intelligence in a single-case, quasi-experimental study. Neuropsychological assessment was normal, except for relatively minor impairments in executive functions. She presented severe and persistent difficulties in the simplest single-digit calculations. Difficulties in commutative operations improved from the first to the second assessment. Difficulties in subtraction persisted and were severe. No difficulties were observed in Arabic number writing. Difficulties in single-digit calculation co-occurred with basic numerical processing impairments in symbolic and non-symbolic (single-digit comparison, dot sets size comparison and estimation) tasks. Her difficulties suggest ANS impairment. No difficulties were detected in visuospatial/visuoconstructional and in phonological processing tasks. The main contributions of the present study are: (a) this is the first characterization of the neuropsychological phenotype in 22q11.2DS (LCR22-4 to LCR22.5) with normal intelligence; (b) mild forms of specific genetic conditions contribute to persistent MD in otherwise typical persons; (c) heterogeneity of neurogenetic underpinnings of MD is suggested by poor performance in non-symbolic numerical processing, dissociated from visuospatial/visuoconstructional and phonological impairments; (d) similar to what happens in 22q11.2DS (LCR22-2 to LCR22-4), ANS impairments may also characterize 22q11.2DS (LCR22-4 to LCR22-5).https://www.frontiersin.org/article/10.3389/fpsyg.2018.02193/fullmath learning difficultiesdevelopmental dyscalculia22q11.2DS (LCR22-4 to LCR22-5)cognitive phenotypeWeber fractionapproximate number system |
| spellingShingle | Lívia de Fátima Silva Oliveira Lívia de Fátima Silva Oliveira Annelise Júlio-Costa Fernanda Caroline dos Santos Maria Raquel Santos Carvalho Vitor Geraldi Haase Vitor Geraldi Haase Vitor Geraldi Haase Vitor Geraldi Haase Vitor Geraldi Haase Numerical Processing Impairment in 22q11.2 (LCR22-4 to LCR22-5) Microdeletion: A Cognitive-Neuropsychological Case Study Frontiers in Psychology math learning difficulties developmental dyscalculia 22q11.2DS (LCR22-4 to LCR22-5) cognitive phenotype Weber fraction approximate number system |
| title | Numerical Processing Impairment in 22q11.2 (LCR22-4 to LCR22-5) Microdeletion: A Cognitive-Neuropsychological Case Study |
| title_full | Numerical Processing Impairment in 22q11.2 (LCR22-4 to LCR22-5) Microdeletion: A Cognitive-Neuropsychological Case Study |
| title_fullStr | Numerical Processing Impairment in 22q11.2 (LCR22-4 to LCR22-5) Microdeletion: A Cognitive-Neuropsychological Case Study |
| title_full_unstemmed | Numerical Processing Impairment in 22q11.2 (LCR22-4 to LCR22-5) Microdeletion: A Cognitive-Neuropsychological Case Study |
| title_short | Numerical Processing Impairment in 22q11.2 (LCR22-4 to LCR22-5) Microdeletion: A Cognitive-Neuropsychological Case Study |
| title_sort | numerical processing impairment in 22q11 2 lcr22 4 to lcr22 5 microdeletion a cognitive neuropsychological case study |
| topic | math learning difficulties developmental dyscalculia 22q11.2DS (LCR22-4 to LCR22-5) cognitive phenotype Weber fraction approximate number system |
| url | https://www.frontiersin.org/article/10.3389/fpsyg.2018.02193/full |
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