This thesis reports the findings of my study of students with visual-spatial deficits in my specialist school in the city of New York. It is comprised of a pilot study, mathematical interviews, and interventions with students and teachers. This study is qualitative and primarily uses case studies to explain the interventions with both the students and the teachers. The study is made up of interventions with two students, and interventions with several teachers who work in my specialist K-12 school which includes both primary and secondary school teachers. Since very little research has been conducted in this field to this point, the findings presented in this thesis aim to give teachers, especially secondary school mathematics teachers, an understanding of the challenges that secondary school students with visual-spatial deficits face when they are learning mathematics. In addition, this research also discusses intervention sessions that I conducted with teachers that gives some insights into educating secondary school mathematics teachers about mathematics learning disabilities and their impact on the students that they teach. The main findings of this research are that there are effective interventions for both students and teachers that help students with visual-spatial deficits learn mathematics. A successful theme that has emerged is centring which helps students to start questions that they find challenging, and also focus their attention on obtaining a solution. It can sometimes lead to a greater understanding of mathematics as well.

Síndrome de Williams-Beuren (SWB) é caracterizada por fácies típico, estenose aórtica supravalvar, retardo mental, hiperacusia e anormalidades comportamentais com personalidade amigável e distúrbios de ansiedade. É causada por microdeleção de genes contíguos localizados na região 7q11.23. Foram estudados 31 pacientes WBS (19 M e 12 F) a idade variou de 9 a 26 anos (mediana 14). O diagnóstico da SWB foi confirmado pelo FISH (Fluorescence In Situ Hibridisation) ou análise de marcadores microssatélites em todos os pacientes. Os objetivos foram avaliar a capacidade cognitiva, o QI (Quociente de Inteligência) de execução, verbal e total, a freqüência de déficits visuo-espaciais, traços autisticos e comparar os resultados encontrados com os moleculares. Os testes utilizados foram: WISC-III, WAIS-III, Figuras Complexas de Rey e Escala de Traços Autísticos (ATA). O QI total variou de 51 a 86 (mediana de 63): 22 com deficiência mental leve, 4 com deficiência mental moderada; 4 limítrofes, 1 média inferior. Todos os pacientes apresentaram déficit visuo-espacial. A freqüência de traços autisticos foi encontrada em 13/31 pacientes (41,94%) com predomínio no sexo masculino (10M: 3F). Não foi encontrada correlação entre a presença de traços autísticos em relação ao tamanho da deleção. Nosso estudo reforça a importância da avaliação sistemática da função cognitiva em pacientes com SWB e alerta para a presença da alta freqüência de traços autísticos encontrados em pacientes com SWB. Estes últimos dados são preliminares e novos estudos serão necessários para confirmar esse achado específico na SWB. / Williams-Beuren syndrome (WBS) is characterized by typical facies, supravalvular aortic stenosis, mental retardation, hyperacusis and behavioral abnormalities with overfriendly personality and anxiety disorders. It is caused by a microdeletion of continuous genes located in 7q11.23 region. We studied 31 WBS patients (19 M and 12 F) whose ages ranged from 9 to 26 years (median 14y). The diagnosis of WBS was confirmed by FISH or microsatellite markers analysis in all patients. The objectives were to evaluate cognitive ability, IQ(Intelligence Quotient) execution, verbal and total, frequency of visual-spatial deficits and autistic traits and compare the results of molecular findings. The tests used were the WISC-III, WAIS-III, Rey Complex Figure and a scale of autistic traits (ATA). The total IQ ranged from 51 to 86 (median 63): 22 with mild intellectual disability, 4 with moderate metal retardation, 4 limitrofe and 1 below the normal mean. All patients had marked visual-spatial deficit. The frequency of autistic traits were found in 13 of 31 patients (41.94%) with a predominance in males (10M:3F). There was no correlation with the incidence of autistic traits in relation to the size of the deletion. Our study reinforces the importance of the systematic assessment of cognitive function in WBS patients, and alerts researchers to the presence of a high frequency of autistic traits found in patients with WBS. These latter data are preliminary and further studies are necessary to confirm this specific finding in WBS patients.

Síndrome de Williams-Beuren (SWB) é caracterizada por fácies típico, estenose aórtica supravalvar, retardo mental, hiperacusia e anormalidades comportamentais com personalidade amigável e distúrbios de ansiedade. É causada por microdeleção de genes contíguos localizados na região 7q11.23. Foram estudados 31 pacientes WBS (19 M e 12 F) a idade variou de 9 a 26 anos (mediana 14). O diagnóstico da SWB foi confirmado pelo FISH (Fluorescence In Situ Hibridisation) ou análise de marcadores microssatélites em todos os pacientes. Os objetivos foram avaliar a capacidade cognitiva, o QI (Quociente de Inteligência) de execução, verbal e total, a freqüência de déficits visuo-espaciais, traços autisticos e comparar os resultados encontrados com os moleculares. Os testes utilizados foram: WISC-III, WAIS-III, Figuras Complexas de Rey e Escala de Traços Autísticos (ATA). O QI total variou de 51 a 86 (mediana de 63): 22 com deficiência mental leve, 4 com deficiência mental moderada; 4 limítrofes, 1 média inferior. Todos os pacientes apresentaram déficit visuo-espacial. A freqüência de traços autisticos foi encontrada em 13/31 pacientes (41,94%) com predomínio no sexo masculino (10M: 3F). Não foi encontrada correlação entre a presença de traços autísticos em relação ao tamanho da deleção. Nosso estudo reforça a importância da avaliação sistemática da função cognitiva em pacientes com SWB e alerta para a presença da alta freqüência de traços autísticos encontrados em pacientes com SWB. Estes últimos dados são preliminares e novos estudos serão necessários para confirmar esse achado específico na SWB. / Williams-Beuren syndrome (WBS) is characterized by typical facies, supravalvular aortic stenosis, mental retardation, hyperacusis and behavioral abnormalities with overfriendly personality and anxiety disorders. It is caused by a microdeletion of continuous genes located in 7q11.23 region. We studied 31 WBS patients (19 M and 12 F) whose ages ranged from 9 to 26 years (median 14y). The diagnosis of WBS was confirmed by FISH or microsatellite markers analysis in all patients. The objectives were to evaluate cognitive ability, IQ(Intelligence Quotient) execution, verbal and total, frequency of visual-spatial deficits and autistic traits and compare the results of molecular findings. The tests used were the WISC-III, WAIS-III, Rey Complex Figure and a scale of autistic traits (ATA). The total IQ ranged from 51 to 86 (median 63): 22 with mild intellectual disability, 4 with moderate metal retardation, 4 limitrofe and 1 below the normal mean. All patients had marked visual-spatial deficit. The frequency of autistic traits were found in 13 of 31 patients (41.94%) with a predominance in males (10M:3F). There was no correlation with the incidence of autistic traits in relation to the size of the deletion. Our study reinforces the importance of the systematic assessment of cognitive function in WBS patients, and alerts researchers to the presence of a high frequency of autistic traits found in patients with WBS. These latter data are preliminary and further studies are necessary to confirm this specific finding in WBS patients.