A holoprosencefalia (HPE) é a mais freqüente das malformações craniofaciais descritas na literatura. Diversos genes já foram identificados como causadores desse tipo de anomalia, entre eles, o Sonic Hedgehog (SHH), ZIC2, SIX3 e TGIF. O objetivo deste estudo foi avaliar as habilidades neuropsicolingüísticas de um indivíduo com HPE e mutação no gene SHH, apresentando características fenotípicas do tipo Like. Os resultados evidenciaram que, apesar de se tratar de um grau leve de HPE (fenótipo Like), o paciente apresentou perdas significativas nas habilidades lingüísticas, com aspecto cognitivo dentro da normalidade. O exame de ressonância magnética do encéfalo revelou hipoplasia da comissura anterior e presença de cisto temporal à esquerda, achados aparentemente não relacionados à sintomatologia clínica.

Abilities of attention and phonological working memory in individuals with Velocardiofacial syndrome Velocardiofacial syndrome (VCFS) is a disorder presenting multiple congenital anomalies and the major one are cleft palate and/or velopharyngeal dysfunction, cardiac malformations, facial dysmorphism, learning disability including visual-motor ability, abstract and mathematical reasoning. Speech and language disorders are among the most common VCFS clinical features. Both acquisition and development of language and learning domains require neuropsycholinguistic processes being attention and memory highlighted. Based on the literature review and on the clinical observation of VCFS individuals, this paper aims at presenting auditory attention and phonological working memory (FWM) abilities of 6 VCFS children aged 9, 2 to 11,7. Specific tests were administered in order to evaluate FWM and attention abilities. The results have shown alterations of the sustained attention test in 3 (50%) individuals; NVDNDA (non-verbal dichotic, non-directed attention) 2 (33%) normal, 4 (67%) altered; NVDAR (non-verbal dichotic, attention to the/at the right) 1 (17%) normal, 5 (83%) altered; NVDAL (non-verbal dichotic, attention to left) 2 (33%) normal, 4 (67%) altered, DDT (Digit Dichotic Test) 1 (17%) normal 5 (83%) altered, DOD (Direct Order Digit) 6 (100%) normal, I O D (Inverse Order Digit) 3 (50%) altered, BCPR (Brazilian Children Pseudoword Repetition), 6 (100%) normal. In summary, it is possible to show that children with known VCFS present with disorders of attention concerning their abilities to select and sustain attention; nonetheless, the VCFS group selection ability seems to be more affected.