Optiz syndrome: audiological, speech and neuropsychological assessment

ABSTRACT

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.