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Journal of Pediatric Neurology 2022; 20(03): 198-201
DOI: 10.1055/s-0041-1730964
Case Report

Cognitive and Behavioral Profiles of Children with Aspartylglucosaminuria: A Case Series

Louise M. Crowe
1   Department of Clinical Sciences, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia
2   Department of Psychology, Royal Children's Hospital, Melbourne, Australia
3   School of Psychological Science, University of Melbourne, University of Melbourne, Melbourne, Australia
,
Amy Brown
1   Department of Clinical Sciences, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia
,
Heidi Peters
4   Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Australia
› Author Affiliations Funding L.M.C. is funded through the Australian National Health and Medical Research Council (NHMRC # 1071544) Early Career Fellowship. This study was funded by Murdoch Children's Research Institute and the Victorian Government Operational Infrastructure.
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Abstract

Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder with an autosomal recessive inheritance. It affects the aspartylglucosaminidase (AGA) gene and causes a deficiency in activity of the enzyme N-aspartyl-β-glucosaminidase with resultant accumulation of glycoasparagines in body tissues. Children with AGU present with developmental delays in cognitive and language skills. Currently, information on cognition and behavior of children with AGU is limited. This case series presents the neuropsychological and behavioral profiles of three children with AGU assessed at two time points. All the three children had full-scale intelligence quotient (IQ) scores in the intellectual disabled range (<70). IQ had declined since their previous cognitive assessment 1 to 2 years prior. Other cognitive skills were significantly below expected levels. Parents reported several behavioral problems and adaptive difficulties. The findings challenge current beliefs that cognition is impaired but stable in children with declines seen in a short time.

Keywords

aspartylglucosaminuria - lysosomal storage disorder - cognition - children - behavior


Publication History

Received: 08 February 2021

Accepted: 25 March 2021

Article published online:
19 June 2021

© 2021. Thieme. All rights reserved.

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