- Select a language for the TTS:
- UK English Female
- UK English Male
- US English Female
- US English Male
- Australian Female
- Australian Male
- Language selected: (auto detect) - EN
Play all audios:
Background: A high proportion of galactosemia patients appear to have problems of a neuropsychological and/or linguistic nature in spite of dietary treatment. Because the neonatal screening
program in Norway does not include galactosemia, we have reexamined Norwegian galactosemics.
Materials/methods: From a known population of 16 patients, 8 patients were able to participate in the study. The age at diagnosis varied between 2 and 11 weeks, while the age at the time of
the study was between 9 months and 19 years. All had very low or 0 activity of galactose-1-phosphate uridyl transferase, and 4/8 had some evidence of cataracts at the time of diagnosis. As
part of the study all were examined neurologically, and had an age-appropriate developmental/IQ test, an ABR and an EEG, and a comprehensive psycholinguistic evaluation.
Results: The three youngest patients had normal developmental/IQ tests, while the five older patients had IQ scores in or below low range of normal. 7/8 patients had delayed language
development, 3 of these were classified as having verbal dyspraxia. Head CTs showed areas of low attenuation in two patients examined in the newborn period, but were normal in others who
were examined later. ABR and EEG showed mild pathology in the oldest patient only.
Conclusion: We find evidence of significant developmental and language problems in this unscreened population. In spite of adequate diets, the data suggest that these problems worsen with
age. However, there was no relation between functional level and age at diagnosis. This is compatible with data from other countries. It is not clear from the literature whether diagnosis by
screening actually changes the prognosis in this disorder.
Anyone you share the following link with will be able to read this content:
