RESUMO
Approximately 6% of school-aged children have math difficulties (MD). A neurogenetic etiology has been suggested due to the presence of MD in some genetic syndromes such as 22q11.2DS. However, the contribution of 22q11.2DS to the MD phenotype has not yet been investigated. This is the first population-based study measuring the frequency of 22q11.2DS among school children with MD. Children (1,564) were identified in the schools through a screening test for language and math. Of these children, 152 (82 with MD and 70 controls) were selected for intelligence, general neuropsychological, and math cognitive assessments and for 22q11.2 microdeletion screening using MLPA. One child in the MD group had a 22q11.2 deletion spanning the LCR22-4 to LCR22-5 interval. This child was an 11-year-old girl with subtle anomalies, normal intelligence, MD attributable to number sense deficit, and difficulties in social interactions. Only 19 patients have been reported with this deletion. Upon reviewing these reports, we were able to characterize a new syndrome, 22q11.2 DS (LCR22-4 to LCR22-5), characterized by prematurity; pre- and postnatal growth restriction; apparent hypotelorism, short/upslanting palpebral fissures; hypoplastic nasal alae; pointed chin and nose; posteriorly rotated ears; congenital heart defects; skeletal abnormalities; developmental delay, particularly compromising the speech; learning disability (including MD, in one child); intellectual disability; and behavioral problems. These results suggest that 22q11.2 DS (LCR22-4 to LCR22-5) may be one of the genetic causes of MD.
Assuntos
Síndrome de DiGeorge/genética , Deficiências da Aprendizagem/genética , Matemática , Criança , Feminino , Dosagem de Genes , Humanos , MasculinoRESUMO
O progresso tecnológico e econômico de um país associa-se a melhorias na qualidade de vida à custa de uma demanda crescente do desempenho cognitivo e acadêmico da população. As dificuldades de aprendizagem da matemática (DAM) representam um risco, diminuindo potencialmente o capital cognitivo de uma sociedade. Os diagnósticos e intervenções neuropsicológicos melhoram potencialmente o funcionamento cognitivo e o bem-estar dos indivíduos. Pesquisas são necessárias para um planejamento efetivo e equitativo de políticas públicas. Os critérios diagnósticos atuais das dificuldades de aprendizagem são estatísticos e arbitrários, resultando em uma heterogeneidade clínica e em um alto índice de comorbidades. Neste artigo, foram analisados, através de uma revisão de literatura, os possíveis mecanismos cognitivos envolvidos nas DAM e em outros distúrbios relacionados. Conclui-se que o processamento fonológico, a memória de trabalho, o processamento visoespacial e o senso numérico são domínios potencialmente subjacentes às DAM. Mais estudos longitudinais e integrativos que avaliem simultaneamente a contribuição destes fatores são necessários.(AU)
Technological and economic progress is associated to higher living standards at the expense of growing demands on cognitive/academic performance. Mathematical learning difficulties (MLD) represent a risk factor, potentially diminishing a society's cognitive capital. Neuropsychological diagnosis and interventions potentially improve cognitive functioning and well-being. Research data are required to plan effective and equitable public policies. Current diagnostic criteria for learning difficulties are statistical and arbitrary, resulting in clinical heterogeneity and high comorbidity rates. In this paper, we discuss possible cognitive mechanisms involved in MLD and their relationship to other disorders through a literature review. It is concluded that phonological processing, working memory, visuospatial processing and number sense are domains potentially underlying MLD. More longitudinal and integrative studies, simultaneously assessing the contribution of these several factors are required.(AU)
Assuntos
Deficiências da Aprendizagem , Matemática/educaçãoRESUMO
O progresso tecnológico e econômico de um país associa-se a melhorias na qualidade de vida à custa de uma demanda crescente do desempenho cognitivo e acadêmico da população. As dificuldades de aprendizagem da matemática (DAM) representam um risco, diminuindo potencialmente o capital cognitivo de uma sociedade. Os diagnósticos e intervenções neuropsicológicos melhoram potencialmente o funcionamento cognitivo e o bem-estar dos indivíduos. Pesquisas são necessárias para um planejamento efetivo e equitativo de políticas públicas. Os critérios diagnósticos atuais das dificuldades de aprendizagem são estatísticos e arbitrários, resultando em uma heterogeneidade clínica e em um alto índice de comorbidades. Neste artigo, foram analisados, através de uma revisão de literatura, os possíveis mecanismos cognitivos envolvidos nas DAM e em outros distúrbios relacionados. Conclui-se que o processamento fonológico, a memória de trabalho, o processamento visoespacial e o senso numérico são domínios potencialmente subjacentes às DAM. Mais estudos longitudinais e integrativos que avaliem simultaneamente a contribuição destes fatores são necessários.
Technological and economic progress is associated to higher living standards at the expense of growing demands on cognitive/academic performance. Mathematical learning difficulties (MLD) represent a risk factor, potentially diminishing a society's cognitive capital. Neuropsychological diagnosis and interventions potentially improve cognitive functioning and well-being. Research data are required to plan effective and equitable public policies. Current diagnostic criteria for learning difficulties are statistical and arbitrary, resulting in clinical heterogeneity and high comorbidity rates. In this paper, we discuss possible cognitive mechanisms involved in MLD and their relationship to other disorders through a literature review. It is concluded that phonological processing, working memory, visuospatial processing and number sense are domains potentially underlying MLD. More longitudinal and integrative studies, simultaneously assessing the contribution of these several factors are required.
Assuntos
Criança , Adulto , Deficiências da Aprendizagem , Matemática/educaçãoRESUMO
Finger counting has been associated to arithmetic learning in children. We examined children with (n = 14) and without (n = 84) mathematics learning difficulties with ages between 8 and 11 years. Deficits in finger gnosia were found in association to mathematical difficulties. Finger gnosia was particularly relevant for the performance in word problems requiring active manipulation of small magnitudes in the range between 1 and 10. Moreover, the deficits in finger gnosia could not be attributed to a shortage in working memory capacity but rather to a specific inability to use fingers to transiently represent magnitudes, tagging to be counted objects, and reducing the cognitive load necessary to solve arithmetic problems. Since finger gnosia was more related to symbolic than to non-symbolic magnitude processing, finger-related representation of magnitude seems to be an important link for learning the mapping of analog onto discrete symbolic magnitudes.