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1.
Behav Genet ; 42(2): 287-98, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21870177

RESUMO

As individuals with chromosome 22q11.2 deletion syndrome (22q11DS) show a wide range of IQs, intellectual heterogeneity could mask the neuropsychological profile of the syndrome. This study was designed to identify specific neuropsychological features of children and adolescents with 22q11DS by taking into account the possible source of variability deriving from intellectual disability (ID). First, we compared several neuropsychological domains involving linguistic, visual-motor/visual-perceptual and memory abilities in 34 children and adolescents with 22q11DS and 83 mental age-matched typically developing (TD) participants. Then, we selected participants with 22q11DS according to whether or not they had ID and compared their neuropsychological profiles with those of chronological age-matched TD controls. Although language and several aspects of memory have been found impaired only in children with 22q11DS with ID, deficits in visual-spatial abilities and visual-object short-term memory persist in participants without ID and might be considered a characteristic of 22q11DS, not just related to the presence of ID. On the basis of our findings, children and adolescents with 22q11DS cannot be considered as a single group with a homogeneous neuropsychological profile and must be studied in relation to their global intellectual abilities.


Assuntos
Síndrome da Deleção 22q11/complicações , Síndrome da Deleção 22q11/psicologia , Deficiência Intelectual/genética , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Inteligência/genética , Itália , Masculino , Testes Neuropsicológicos , Fenótipo
2.
Res Dev Disabil ; 34(5): 1770-80, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23501586

RESUMO

Executive functions are a set of high cognitive abilities that control and regulate other functions and behaviors and are crucial for successful adaptation. Deficits in executive functions are frequently described in developmental disorders, which are characterized by disadaptive behavior. However, executive functions are not widely examined in individuals with intellectual disability. The present study is aimed at evaluating the etiological specificity hypotheses pertaining to executive functions by comparing individuals with intellectual disability of different etiology, as Williams syndrome and Down syndrome, on different aspects of executive functions. To this aim a battery evaluating attention, short-term and working memory, planning, categorization, shifting and inhibition, was administered to 15 children, adolescents and adults with Williams syndrome, to 15 children, adolescents and adults with Down syndrome and to 16 mental-age-matched typically developing children. The two groups with intellectual disability showed impairment in a set of executive functions, as auditory sustained attention, visual selective attention, visual categorization and working memory, and preserved visual sustained attention, auditory selective attention and visual inhibition. However, a distinctive profile has been found between the two syndromic groups on other executive functions. While participants with Down syndrome were poor in shifting and verbal aspects of memory and inhibition, those with Williams syndrome were poor in planning. The specific weakness and straights on executive functions may support the etiological specificity hypothesis accounting for distinctive cognitive development syndrome-specific.


Assuntos
Síndrome de Down/fisiopatologia , Função Executiva/fisiologia , Deficiência Intelectual/fisiopatologia , Síndrome de Williams/fisiopatologia , Adolescente , Adulto , Atenção/fisiologia , Criança , Cognição/fisiologia , Feminino , Humanos , Inteligência/fisiologia , Masculino , Memória de Curto Prazo/fisiologia , Testes Neuropsicológicos , Adulto Jovem
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