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Wyświetlanie 1-2 z 2
Tytuł:
COGNITIVE FUNCTIONING AND AUTONOMY OF PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY
Autorzy:
Anikiej, Paulina
Mański, Arkadiusz
Bidzan, Mariola
Powiązania:
https://bibliotekanauki.pl/articles/2137737.pdf
Data publikacji:
2018-05-08
Wydawca:
Fundacja Edukacji Medycznej, Promocji Zdrowia, Sztuki i Kultury Ars Medica
Tematy:
rare disease
attention
memory
executive functions
Opis:
Cognitive problems and a deepening dependence on one’s immediate environment inherently accompany Duchenne Muscular Dystrophy (DMD). The disease is progressive, and the size of the dystrophin gene determines the extraordinary complexity of the causes of this disease at the genetic and molecular level. The aim of the study was to characterize the cognitive problems and the extent of independence of patients with genetically confirmed DMD. An attempt was also made to reconstruct the patient's life history in three periods: before the appearance of the first symptoms, during the search for a diagnosis and after confirming the diagnosis of DMD. The study group consisted of male patients between 10 and 13 years of age (N = 14). The Diagnosis of Cognitive Functions Battery - PU1 and an experimental tool for studying autonomy were used. Information on the condition of the attention, memory and executive functions of patients was obtained. The study of autonomy measurably supplemented knowledge in terms of the degree of the patients’ dependence on the environment with regard to everyday functioning. The best functioning component of attention in the examined patients is orientation (o) (13 patients achieved average results in this aspect). Selectivity (s) turned out to be the weakest component, as only five patients obtained average results (the others obtained low results) in this aspect. Autonomy results (AU) indicate group diversity and inter-subject variability in the disease progression (subjects scored from 6 to 47 points). The clinical picture of the disease is not homogeneous. Patients, despite their similar age, differ in the progression of the disease and the resulting effects. This induces the need for an individual approach to each patient and the preparation of a unique set of therapeutic interactions for each of them.
Źródło:
Acta Neuropsychologica; 2018, 16(2); 157-166
1730-7503
2084-4298
Pojawia się w:
Acta Neuropsychologica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
DIAGNOSIS OF CHILDREN WITH SANFILIPPO DISEASE – PSYCHOLOGICAL, SOCIAL AND MOTOR ASSESSMENT
Autorzy:
Anikiej-Wiczenbach, Paulina
Rudnik, Agata
Limanówka, Monika
Wierzba, Jolanta
Mański, Arkadiusz
Powiązania:
https://bibliotekanauki.pl/articles/2137954.pdf
Data publikacji:
2020-11-20
Wydawca:
Fundacja Edukacji Medycznej, Promocji Zdrowia, Sztuki i Kultury Ars Medica
Tematy:
Bayley’s Scale III
cognitive functioning
rare disease
qualitative research
Opis:
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.
Źródło:
Acta Neuropsychologica; 2020, 18(4); 525-535
1730-7503
2084-4298
Pojawia się w:
Acta Neuropsychologica
Dostawca treści:
Biblioteka Nauki
Artykuł
    Wyświetlanie 1-2 z 2

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