Pubmed du 2/02/09

mardi 10 février 2009

1. Annaz D, Karmiloff-Smith A, Johnson MH, Thomas MS. A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome. J Exp Child Psychol ;2009 (Feb 2)

We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders : autism, Down syndrome, and Williams syndrome. The autism group was split into two groups : one with high-functioning children and one with low-functioning children. The latter group has rarely been studied in this context. The four disorder groups were compared with typically developing children. Cross-sectional trajectory analyses were used to compare development in a modified version of Tanaka and Farah’s part-whole task. Trajectories were constructed linking part-whole performance either to chronological age or to several measures of mental age (receptive vocabulary, visuospatial construction, and the Benton Facial Recognition Test). In addition to variable delays in onset and rate of development, we found an atypical profile in all disorder groups. These profiles were atypical in different ways, indicating multiple pathways to, and variable outcomes in, the development of face recognition. We discuss the implications for theories of face recognition in both atypical and typical development, including the idea that part-whole and rotation manipulations may tap different aspects of holistic and/or configural processing.

2. Parmeggiani A, Tedde MR, Arbizzani A, Posar A, Scaduto MC, Santucci M, Sangiorgi S. Methyl-CpG-binding Protein 2 (MECP2) Gene Mutations in an Italian Sample of Patients With Pervasive Developmental Disorder and Mental Retardation. J Child Neurol ;2009 (Feb 2)

Methyl-CpG-binding protein 2 (MECP2) gene mutations have been identified in girls with Rett syndrome and in boys with heterogeneous neuropsychiatric disorders. Because of the limited or inconsistent data reported in literature, the role of methyl-CpG-binding protein 2 gene in the pathogenesis of mental retardation and pervasive developmental disorders needs further study. We scanned methyl-CpG-binding protein 2 gene in 99 Italian patients with pervasive developmental disorder or with nonsyndromal mental retardation. Four methyl-CpG-binding protein 2 gene mutations were found : 2 in 4 girls with Rett disorder, the others in 2 girls with mental retardation. The wide phenotypic spectrum and the variants of methyl-CpG-binding protein 2 gene, which may play an important role in gene regulation and neurodevelopment, justify the literature’s interest particularly in girls.


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