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DIAGNOSIS OF CHILDREN WITH SANFILIPPO DISEASE – PSYCHOLOGICAL, SOCIAL AND MOTOR ASSESSMENT

100%
Anikiej-Wiczenbach P., Rudnik A., Limanówka M., Wierzba J., Mański A.
Acta Neuropsychologica
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2020
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vol. 18(4)
525-535
EN
Sanfilippo disease (mucopolysaccharidosis, MPS IIIA) is one of the types of mucopolysaccharidosis associated with extensive neurological effects and somatic symptoms. The consequences of neurodegeneration and cognitive impairment are manifested in challenges with the daily functioning of patients who experience problems with communication and following instructions. The aim of this study was to assess the cognitive functioning of three patients with MPS IIIA and to find patterns of neurodegeneration and to make their environment more friendly. Three boys (from 5.5 to 7 years) with MPS IIIA participated in the study. Each participant attended two meetings, and his functioning was assessed by three independent person (using two-way mirror). We used Bayley’s Scale III with some modifications. Interviews with parents were also included. The communication of patients was limited to some vocalizations. Patients presented instrumental use of items, but not all of them were able to repeat actions after diagnostician or presented object permanence. The results showed that the cognitive functioning of participants was significantly hindered by problems related to motor dysfunction, hyperactivity, and ataxia. The psychological data was collated with medical results. This study allows indicating new sources giving the possibility of child phenotype variability and to create specific interventions in the field of psychological therapy for patients with MPS IIIA and their families.
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Qualitative Task Analysis to Enhance Sports Characterization: A Surfing Case Study

75%
Moreira M., Peixoto C.
Journal of Human Kinetics
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2014
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vol. 42
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issue 1
245-257
EN
The aim of this study was to develop a Matrix of Analysis for Sports Tasks (MAST), regardless of the sports activity, based on practice classification and task analysis. Being this a qualitative research our main question was: in assessing sports’ structure is it possible to make the characterization of any discipline through context and individuals’ behaviours? The sample was within a surf discipline in a competition flowing having 5 of the top 16 Portuguese surfers training together. Based on a qualitative method, studying the surf as the main activity was an interpretative study case. The MAST was applied in four phases: taxonomy; tasks and context description; task analysis; teaching and performance strategies. Its application allowed the activities’ characterization through the observation, surfer’s opinions and bibliographical support. The triangulation of the data was used as an information data treatment. The elements were classified by the challenges proposed to the practitioners and the taxonomy was constituted by the sport activities, group, modality and discipline. Surf is a discipline of surfing which is a sliding sport modality, therefore, a nature sport. In the context description, we had the wave’s components and constraints and the surfboards’ qualities. Through task analysis we obtained a taxonomy of surf manoeuvres. The structural and functional analysis allowed finding solutions for learning of surf techniques with trampoline and skateboards because these fit in sliding sports. MAST makes possible the development of strategies that benefit teaching and performance intervention
3
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Impact of surroundings on the buildings’ active perception — case study

51%
Lasiewicz-Sych A., Lasiewicz-Sych A.
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vol. XLVIII
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