Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome
| Autor: | Vera Ayres Meloni, Maria Isabel Melaragno, O.F.A. Bueno, Claudia Berlim de Mello, L S E Pimenta, L. M. Benedetto, Sylvia Satomi Takeno |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine Chromosome Disorders 030105 genetics & heredity Young Adult 03 medical and health sciences 0302 clinical medicine Arts and Humanities (miscellaneous) Intellectual Disability Adaptation Psychological Intellectual disability medicine Cognitive development Humans Verbal fluency test Genetic Testing Neuropsychological assessment Child Social Behavior medicine.diagnostic_test Rehabilitation Neuropsychology Wechsler Adult Intelligence Scale Cognition medicine.disease Psychiatry and Mental health Socioeconomic Factors Neurology Female Neurology (clinical) Chromosome Deletion Chromosomes Human Pair 18 Psychology Neurocognitive Brazil 030217 neurology & neurosurgery Clinical psychology |
| Zdroj: | Journal of Intellectual Disability Research. |
| ISSN: | 1365-2788 0964-2633 |
| Popis: | BACKGROUND The association of behavioural phenotype assessment with cytogenomic characterisation may provide a better comprehension of genotype-phenotype correlations in syndromes caused by chromosomal abnormalities, such as 18p deletion syndrome. METHOD We report on four Brazilian patients with 18p deletion syndrome characterised by cytogenomic techniques and detailed neuropsychological evaluation. Intellectual, adaptive and behavioural characteristics were assessed through the Wechsler's Scales, the Vineland-II Scale and the Child Behaviour Checklist, respectively. Socio-economic measures including main caretaker educational level and family income as defined by Brazilian criteria for social class classification were also collected to evaluate a possible contribution of environmental factors in neurocognitive variability. RESULTS Two out of four patients showed intellectual disability (IQ |
| Databáze: | OpenAIRE |
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