Vol 16, No 1 (2019)
Research paper
Published online: 2019-02-09
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Selected aspects of the cognitive functioning of adult sisters with classical galactosemia

Katarzyna A. Milska, Paulina Anikiej, Michał Zwiefka, Paulina Ignatowska, Arkadiusz Mański
Psychiatria 2019;16(1):26-32.

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Vol 16, No 1 (2019)
Prace oryginalne - nadesłane
Published online: 2019-02-09

Abstract

Introduction: Patients with classic galactosemia (GALK) often suffer from a variety of neurodevelopmental disorders. The indicated disorders may appear despite the introduction of a very restrictive diet. Among the most common in classical galactosemia difficulties in cognitive functionning we can distinguish: wakening of information processing and executive functions, visuospatial deficits. This system of irregularities often affects the course of the schoolcareer of patients. One of the areas of educational functioning that may particularly reflect the influence of neurocognitive disorders in GALK are mathematical abilities, both in terms of mathematical thinking, geometry and arithmetic thinking. In the case of classical galactosemia, there is also an increased risk that more than one child with this disease may come into one family. Material and methods: In the presented material, the cognitive function of adult siblings in which two people suffer from GALK was analyzed. Results and conclusions: The obtained results reflect significant differences in the cognitive functioning of both patients, which in the case of closely related persons suffering from GALK is not often noted by scientists and practitioners dealing with this rare metabolic disease.

Abstract

Introduction: Patients with classic galactosemia (GALK) often suffer from a variety of neurodevelopmental disorders. The indicated disorders may appear despite the introduction of a very restrictive diet. Among the most common in classical galactosemia difficulties in cognitive functionning we can distinguish: wakening of information processing and executive functions, visuospatial deficits. This system of irregularities often affects the course of the schoolcareer of patients. One of the areas of educational functioning that may particularly reflect the influence of neurocognitive disorders in GALK are mathematical abilities, both in terms of mathematical thinking, geometry and arithmetic thinking. In the case of classical galactosemia, there is also an increased risk that more than one child with this disease may come into one family. Material and methods: In the presented material, the cognitive function of adult siblings in which two people suffer from GALK was analyzed. Results and conclusions: The obtained results reflect significant differences in the cognitive functioning of both patients, which in the case of closely related persons suffering from GALK is not often noted by scientists and practitioners dealing with this rare metabolic disease.
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Keywords

rare autosomal recessive diseases, classical galactosemia, cognitive disorders

About this article
Title

Selected aspects of the cognitive functioning of adult sisters with classical galactosemia

Journal

Psychiatria (Psychiatry)

Issue

Vol 16, No 1 (2019)

Article type

Research paper

Pages

26-32

Published online

2019-02-09

Bibliographic record

Psychiatria 2019;16(1):26-32.

Keywords

rare autosomal recessive diseases
classical galactosemia
cognitive disorders

Authors

Katarzyna A. Milska
Paulina Anikiej
Michał Zwiefka
Paulina Ignatowska
Arkadiusz Mański

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