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Published on: July 28, 2009
Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria
Elina Leena Harjunen1, Minna Laine1, Ritva Tikkanen2
1Division of Child Neurology, Helsinki University Hospital, Helsinki, Finland.
Insights
Aspartylglucosaminuria (AGU) is a rare genetic disorder impacting cognition. This study found AGU children
Area of Science:
- Neuroscience and Genetics
- Rare Diseases
- Pediatric Health
Background:
- Aspartylglucosaminuria (AGU) is a rare, autosomal recessive lysosomal storage disease.
- AGU significantly impacts cognitive and physical health, leading to intellectual disability and reduced life expectancy.
- The Finnish population exhibits a relatively high prevalence of AGU.
Purpose of the Study:
- To cross-sectionally assess cognitive functions in children with AGU.
- To compare cognitive performance in AGU children with a standardized Finnish sample.
- To investigate cognitive domain performance, including verbal comprehension, perceptual reasoning, working memory, and processing speed.
Main Methods:
- Utilized Wechsler's Intelligence Scale for Children IV (WISC-IV) for cognitive assessment.
- Studied a cohort of 21 children diagnosed with AGU, aged 7 to 14 years.
- Compared individual subtest raw scores and overall performance against age-matched normative data.
Main Results:
- AGU children exhibited significantly lower overall cognitive performance compared to norms.
- Processing speed was more severely affected than verbal comprehension.
- Cognitive development appeared relatively stable between ages 7 and 14, with no significant age-related improvements in subtest scores.
Conclusions:
- AGU is a severe neurodevelopmental disorder with profound cognitive deficits.
- Younger AGU children (7-10 years) performed closer to age norms than older children, suggesting an earlier peak cognitive function.
- Findings highlight the progressive nature of AGU and prompt further investigation into the timing of cognitive development in affected individuals.
Abstract:
Aspartylglucosaminuria (AGU) is a rare, recessively inherited lysosomal disease with relatively high prevalence in Finnish population. This progressive disease has a vast impact on patient's cognition and physical health, leading to intellectual disability and shorter life expectancy. Cognitive functions of 21 7- to 14-year-old children with AGU were studied cross-sectionally using Wechsler's Intelligence Scale for Children IV and the results were compared with a standardized Finnish sample. In addition to overall cognitive performance, abilities in discrete cognitive domains, including verbal comprehension, perceptual reasoning, working memory, and processing speed, were examined. The results showed that despite the very low overall level of cognitive performance, there were notable differences between individuals. All those children whose performance was closer to their own age level were 7 to 10 years old. Processing speed appeared more compromised, as compared with verbal comprehension. Furthermore, examining the subtest raw scores, there were no significant positive correlations between age and subtest scores, suggesting that the developmental level of AGU children could be rather stable throughout ages 7 to 14. This study gives insight to the severe nature of AGU disease. Since younger children performed better compared to their age norms than older children, the results raise a question whether the highest peak in cognitive functions is reached at an earlier age than previously thought.
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