Vol 16, No 1 (2019)
Research paper
Published online: 2019-02-09
Selected aspects of the cognitive functioning of adult sisters with classical galactosemia
Psychiatria 2019;16(1):26-32.
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.
Keywords: rare autosomal recessive diseasesclassical galactosemiacognitive disorders
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