RESUMO

OBJECTIVES: Infantile nephropathic cystinosis is associated with a specific cognitive deficit in visual spatial processing in older children and adults. The cause of this deficit is unknown. This study was designed to determine whether the cognitive deficit is present in young children with cystinosis, suggesting an early effect of the genetic disorder on brain development. STUDY DESIGN: Young children (n = 25; age, 3-8 years) with cystinosis and 25 matched control subjects underwent cognitive testing, including tests of intelligence, visual perceptual, visual spatial, and visual motor functions. RESULTS: Children with cystinosis performed significantly more poorly on tests of visual spatial and visual motor function than did control subjects. Visual perceptual abilities were equivalent in the 2 groups. CONCLUSION: The same pattern of visual spatial deficit is present in young children with cystinosis as has previously been demonstrated in older children and adults, which suggests that there may be an influence of the cystinosis gene on brain development, rather than an adverse effect of prolonged cystine accumulation in the brain during childhood.

Assuntos

Sistemas de Transporte de Aminoácidos Neutros/genética , Transtornos Cognitivos/genética , Cistinose/genética , Regulação da Expressão Gênica no Desenvolvimento , Transtornos da Percepção/genética , Distribuição por Idade , Sistemas de Transporte de Aminoácidos Neutros/metabolismo , Estudos de Casos e Controles , Criança , Pré-Escolar , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Comorbidade , Cistinose/diagnóstico , Cistinose/epidemiologia , Feminino , Seguimentos , Humanos , Incidência , Testes de Inteligência , Masculino , Análise Multivariada , Testes Neuropsicológicos , Transtornos da Percepção/diagnóstico , Transtornos da Percepção/epidemiologia , Probabilidade , Valores de Referência , Medição de Risco , Índice de Gravidade de Doença , Distribuição por Sexo , Fatores de Tempo , Percepção Visual/fisiologia