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Abstract : Discrepancy between Motor and Cognitive Control in Adults with Intellectual Disabilities
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Abstract: Purpose: To investigate the relationship between motor and cognitive control in adults with intellectual disabilities (ID), focusing on two aspects, speed and accuracy. Method: Participants were 62adults with ID aged 20 to 47 years. Their intelligence quotients (IQ) ranged from 13 to 61. Nine of the adults with ID had Down syndrome, and 8 of the adults had autism. We conducted three tasks: seal affixation task, tray-carrying task, and the Matching Familiar Figures Test (MFFT). The seal affixation and tray-carrying tasks are motor tasks we devised that can separately measure the speed and accuracy of motor control. MFFT is a cognitive control task that can be used to evaluate cognitive styles, such as impulsive-reflective. Results:Adults with ID showed high motor accuracy and similar motor speed regardless of their MFFT performance. That is, discrepancies between motor and cognitive control existed in adults with ID. Conclusions:The results of this study indicate that some types of motor control problem may become unclear with growth. A longitudinal investigation focused on the motor skill development of persons with ID is therefore necessary. Keywords: Motor control, cognitive control, intellectual disability, speed and accuracy.Download Full Article |
Abstract : Neuropsychological Phenotype in Wolf-Hirschhorn Syndrome
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Abstract: The Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder that causes a range of intellectual disability from mild to severe. In this study, we used standard tools to psychometrically characterize the specific neuropsychological phenotype of WHS. We studied 57 individuals with WHS, ranging in age from 2.6 to 28.6 years representing 70% of the certified Italian WHS population. Results obtained by administering Griffiths’ Mental Developmental Scales and the Vineland Adaptive Behavior Scale revealed a typical WHS neuropsychological phenotype characterized by specific strengths and weaknesses. Despite their severe cognitive impairment, in both scales, patients showed better communication and social interaction skills compared to visuo-motor abilities. Results of our study could bring to the development of new and more effective treatments for individuals affected by WHS: based on neuropsychological phenotype description, it should be possible to design specific rehabilitation programs. These programs would then be aimed at improving rehabilitation protocols to optimize the developmental potential and personal independence of individuals with WHS and thus to improve their quality of life. Keywords: Neuropsychological phenotype, intellectual disability, Wolf-Hirschhorn Syndrome, WHS, 4p deletion.Download Full Article |
Abstract : Diagnosis “Autism” – from Kanner and Asperger to DSM-5
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Abstract: The authors make a synthesized overview of the evolution of the understanding of autism in historical context and a critical analysis of the development of diagnostic criteria in the spirit of the Diagnostic and Statistical Manual (DSM). Based on personal research and extensive clinical experience they put forward a number of debatable issues and own views about the nature of autistic disorder by outlining the trends and directions for future research. Discussed is the issue of "core" and "additional" symptoms of autism and the need for comparison of categorical and dimensional data when constructing empirical studies for the autistic population. The article contains reflections on the underlying impairment which, according to the authors, is a disturbance in the processing and integration of the incoming information, especially at the level of filtration of significant and insignificant stimuli and their linking into a mental sequence appearing at different levels and with varying degree of severity. Noted is the importance of the detailed assessment of mental functioning for early diagnosis and individualized targeting of the therapeutic efforts. In this regard is emphasized the need to search for a new paradigm in the methodology of future research on autism that would make possible the comparison of interdisciplinary results and identification of connections between the relevant scientific achievements. Thus it will be possible to identify trends that will bring us closer to revealing the etiology, perhaps will have an impact on the criteria for diagnosis and on the overall construction of future therapeutic strategies. Keywords: DSM, "core"/"additional" symptoms, dimensional/categorical analysis, integration/filtration of information, interdisciplinary comparable studies.Download Full Article |
Abstract : Survival of Persons with Down Syndrome in Italy
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Abstract: Down syndrome (DS) is a major cause of congenital malformation and disability. No updated data are available on life expectancy of persons with DS in Europe. We collected information on age, sex and area of birth of 3,217 persons with DS died from 1997 to 2009 in Italy. Survivals rates and mean survival time was calculated using a life tables calculated from cross sectional data. Some factors influencing the survival were also analysed using a semi-proportional hazard model. Survival rates of 91.4% at one year and 88.3% at ten years were found. Mean survival time at birth was 47.1 years (C.I. 95%: 46.5-47.7). There was 8-year significant difference in survival between north-central regions and southern regions. Male life expectancy was 46.9 years (C.I. 95%: 46.1-47.8), lower than females 47.3 years (C.I. 95%: 46.5-48.2) even though not statistically significant (p=0.23). Almost nine out ten children with DS now survive at least 10 years. Adequate educational and health service provisions needs to be made for them. The disadvantage of Down persons born in the Southern regions in terms of life expectancy is impressive. Quality of medical care provided in the South of Italy in the first months of life is the most likely determinant of the high mortality observed among persons with DS born in that area. Keywords: Down syndrome, survival, gender, geographical differences, Italy.Download Full Article |
