Síndrome de Optiz: avaliação neuropsicológica e fonoaudiológica / Opitz syndrome: neuropsychological assessment and speech

A Síndrome de Optiz G/BBB é uma condição pleiomórfica caracterizada por hipertelorismo, hiopospádia, associadas a inúmeras anomalias do Sistema Nervoso Central. É geneticamente heterogênea com parte dos casos apresentando herança ligada ao X e parte herança autossômica dominante. O objetivo deste estudo descritivo foi analisar os aspectos neuropsicológicos e fonoaudiológicos de um paciente diagnosticado com a Síndrome de Opitz, com¬parando os achados clínicos e instrumentais aos da literatura. O sujeito pesquisado foi R.A.C., 16 anos, sexo masculino e cursando a 4a. série do Ensino Fundamental. Os resultados obtidos evidenciaram desempenhos satisfatórios relacionados à memória remota, organização óptico-espacial do ato motor, assim como formas com¬plexas de praxias. Déficits maturacionais foram observados nas tarefas cognitivas relacionadas à organização percepto-motora das operações intelectuais no espaço, linguagem pragmática e semântica. As defasagens em áreas específicas da leitura, escrita e numérica, foram significativamente determinantes para o diagnóstico dos distúrbios da aprendizagem.

Optiz Syndrome, also named Hypertelorism-Hypospadias Syndrome, is determined by a dominant autosomic genetic condition linked to X chromosome. This syndrome causes anatomic and neurophysiological malformations and secondary impairments in different levels of development. The objective of this study was to analyze the speech audiologic and neuropsychological aspects of a patient carrier of Opitz Syndrome, comparing the clinical and instrumental findings to the ones in the literature known. The subject focused in the research was R.A.C., a 16 year-old male attending the fourth grade of primary school. The results obtained highlight satisfactory performances concerning remote memory, opticum-spatial organization of the motor act, as well as complex forms of praxias. Maturational deficits were observed in the cognitive tasks related to the motorial and perceptional organization of the intellectual operations in space, pragmatic language and semantics. Handicaps in specific areas of reading, writing and numeric were significantly determining for the diagnosis of learning disorders.

Optiz syndrome: audiological, speech and neuropsychological assessment

Optiz Syndrome, also named Hypertelorism-Hypospadias Syndrome, is determined by a dominant autosomic genetic condition linked to X chromosome. This syndrome causes anatomic and neurophysiological malformations and secondary impairments in different levels of development. The objective of this study was to analyze the speech, audiologic and neuropsychological aspects of a patient carrier of Opitz Syndrome, comparing the clinical and instru¬mental findings to the ones in the literature known. The subject focused in the research was R.A.C., a 16 year-old male attending the fourth grade of primary school. The results obtained highlight satisfactory performances concerning remote memory, opticum-spatial organization of the motor act, as well as complex forms of praxias. Maturational deficits were observed in the cognitive tasks related to the motorial and perceptional organization of the intellectual operations in space, pragmatic language and semantics. Handicaps in specific areas of reading, writing and numeric were significantly determining for the diagnosis of learning disorders.