Pädiatrie und Pädologie
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Pädiatrie und Pädologie · Jan 1991
[What do parents of patients with cystic fibrosis know about their children's disease? Assessment of knowledge using a questionnaire].
A standardized questionnaire was used to assess the knowledge about cystic fibrosis (CF) in 20 parents of our patients with CF. 15 questions about genetics, symptoms and treatment were asked, with each item scored as correct or incorrect. Parents correctly answered an average of 9.5 of the 15 questions. The knowledge test demonstrated good internal consistency (alpha = 0.77). ⋯ Internal consistency however amounted to alpha = 0.34 in treatment, alpha = 0.45 in symptoms and alpha = 0.67 in genetics. This study showed that knowledge of disease in parents of our CF-patients was generally good. However there were same deficits in the field of treatment.
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After an infection of the respiratory tract at the age of one a male infant showed progressive mental and physical retardation. Outstanding signs (e.g. baby doll face, startle reaction and frog position) as well as results of special investigations (cherry red spots of the maculae, short tubular bones) were suspicious for the presence of a lipidstorage disease, that could be identified as Tay-Sachs disease because of absent hexosaminidase A-activity in the patient's serum. Inspite the very low incidence of Tay-Sachs disease in our population, compared with a frequency of 1: 1200 in Ashkenzi Jews, the importance of establishing a diagnosis, based on typical clinical features and biochemical results, has to be emphasized. Genetic consultation is the only point of influence in positive family history, for attempts of causal therapy are not successful at present.