ResumoO objetivo deste estudo é apresentar o processo de desenvolvimento e validação de conteúdo do Instrumento de Avaliação Neuropsicológica Breve Infantil NEUPSILIN-INF, que avalia, de modo breve, componentes de oito funções neuropsicológicas em crianças em idade escolar: orientação, atenção, percepção visual, memória, habilidades aritméticas, linguagem, habilidades visuoconstrutivas e funções executivas. O processo envolveu: 1) análise do instrumento original NEUPSILIN e definição das funções e tarefas a serem adaptadas para avaliação neuropsicológica infantil; 2) desenvolvimento de novas tarefas consideradas fundamentais para a avaliação na infância; 3) estudo piloto 1 com a versão preliminar do instrumento; 4) análise de juízes especialistas; 5) estudos piloto 2 e 3, nova reformulação de tarefas do instrumento e elaboração de sua versão final. O instrumento apresentou adequada validade aparente e de conteúdo. Palavras-chave: Criança, Testes neuropsicológicos, Neuropsicologia, Cognição, Psicometria. Development of the Child Brief Neuropsychological Assessment Battery NEUPSILIN-INF AbstractThe aim of this study is to present the development process and content validation of Child Brief Neuropsychological Assessment Battery NEUPSILIN-INF, which briefly assesses the components of eight neuropsychological functions in school-aged children: orientation, attention, visual perception, memory, arithmetic abilities, language, visuoconstructive abilities and executive functions. The process comprised: 1) the analysis of the original NEUPSILIN instrument and definition of the functions and tasks to be adapted for the child neuropsychological assessment; 2) the development of new tasks considered as fundamental for the assessment in children; 3) pilot study 1 with the preliminary version of the instrument; 4) analysis by specialist judges; 5) pilot studies 2 and 3, new reformulation of the instrument's tasks and preparation of its final version. The instrument presented appropriate face and content validity.

Detailed molecular characterization of chromosomal rearrangements involving X-chromosome has been a key strategy in identifying X-linked intellectual disability-causing genes. We fine-mapped the breakpoints in four women with balanced X-autosome translocations and variable phenotypes, in order to investigate the corresponding genetic contribution to intellectual disability. We addressed the impact of the gene interruptions in transcription and discussed the consequences of their functional impairment in neurodevelopment. Three patients presented with cognitive impairment, reinforcing the association between the disrupted genes (TSPAN7-MRX58, KIAA2022-MRX98, and IL1RAPL1-MRX21/34) and intellectual disability. While gene expression analysis showed absence of TSPAN7 and KIAA2022 expression in the patients, the unexpected expression of IL1RAPL1 suggested a fusion transcript ZNF611-IL1RAPL1 under the control of the ZNF611 promoter, gene disrupted at the autosomal breakpoint. The X-chromosomal breakpoint definition in the fourth patient, a woman with normal intellectual abilities, revealed disruption of the ZDHHC15 gene (MRX91). The expression assays did not detect ZDHHC15 gene expression in the patient, thus questioning its involvement in intellectual disability. Revealing the disruption of an X-linked intellectual disability-related gene in patients with balanced X-autosome translocation is a useful tool for a better characterization of critical genes in neurodevelopment. © 2015 Wiley Periodicals, Inc.

Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature.

This study used eye tracking to explore attention allocation to human and dog faces in children and adolescents with autism spectrum disorder (ASD), attention deficit/hyperactivity disorder (ADHD), and typical development (TD). Significant differences were found among the three groups. TD participants looked longer at the eyes than ASD and ADHD ones, irrespective of the faces presented. In spite of this difference, groups were similar in that they looked more to the eyes than to the mouth areas of interest. The ADHD group gazed longer at the mouth region than the other groups. Furthermore, groups were also similar in that they looked more to the dog than to the human faces. The eye-tracking technology proved to be useful for behavioral investigation in different neurodevelopmental disorders.

Norms for three visual memory tasks, including Corsi's block tapping test and the BEM 144 complex figures and visual recognition, were developed for neuropsychological assessment in Brazilian children. The tasks were measured in 127 children ages 7 to 10 years from rural and urban areas of the States of São Paulo and Minas Gerais. Analysis indicated age-related but not sex-related differences. A cross-cultural effect was observed in relation to copying and recall of Complex pictures. Different performances between rural and urban children were noted.

BackgroundThe majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature.ResultsWe report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15.DiscussionThis is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.

Com o objetivo de correlacionar o QI Estimado com o QI Total, quatro bancos de dados do WISC III de 207 crianças foram associados: 1) crianças com desenvolvimento típico; 2) crianças com diagnóstico do transtorno do déficit de atenção e hiperatividade; 3) crianças referenciadas por dificuldades de aprendizagem em consultório particular; e 4) crianças com sequela neurológica avaliadas em ambulatório universitário. Os dados do QI total foram correlacionados aos do QI estimado, correspondentes à soma dos pontos ponderados dos subtestes Vocabulário e Cubos. Os resultados sugerem que o QI Estimado pode ser adotado quando há restrição de tempo e quando o desempenho intelectual está sendo usado como triagem em pesquisa, ou como ponto de referência dentro de uma avaliação neuropsicológica.

The questionnaire was a pioneer initiative in the CdCS support group, and the answers used in this study can improve the health care assistance to these patients because they focus attention on the demands from a parental perspective. In addition, nearly half of the families stated that they did not remember information regarding recurrence risk, which reinforces the importance of genetic counselling follow-up and the need for the expansion of genetic services in Brazil.