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Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis
L Borgwardt1, A M Thuesen2, K J Olsen3
1Department of Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital, Rigshospitalet, 9 Blegdamsvej, 2100, Copenhagen, Denmark. Line.gutte.borgwardt@rh.regionh.dk.
Background:
Alpha-mannosidosis (OMIM 248500) (AM) is a rare lysosomal storage disease caused by a deficiency of the alpha-mannosidase enzyme. The typical signs consist of hearing impairment, intellectual disabilities, coarse facial features and motor function disturbances. We report on the cognitive function and activities of daily living in patients with AM.
Methods:
Thirty five AM patients, age 6-35 years, were included in the study. As a cognitive function test, we used the Leiter international performance scale-revised (Leiter-R), which consists of two batteries: the visual function and reasoning battery and the memory and attention battery, the latter including a memory screening. Additional two questionnaires, The Childhood Health Assessment Questionnaire (CHAQ) and EQ-5D-5 L, were filled out.
Results:
We found IQ in the range of 30-81 in our cohort. The total equivalent age (mental age) was significantly reduced, between 3-9 years old for the visual function and reasoning battery, between 2.3-10.2 years for the memory screening. Data suggested a specific developmental profile for AM with a positive intellectual development until the chronological age 10-12 years, followed by a static or slightly increasing intellectual level. All patients were to varying degrees socially and practically dependent and unable to take care of themselves in daily life.
Conclusions:
Intellectual disability is a consistent finding in patients with alpha-mannosidosis but with extensive variation. We assess that this group of patients has, despite their intellectual disabilities, a potential for continuous cognitive development, especially during childhood and early teenage years. This should be included and supported in the individual educational planning.
Insights
Alpha-mannosidosis (AM) patients show intellectual disability but have potential for cognitive development until age 10-12. Daily living activities require significant support for individuals with AM.
Area of Science:
- Biochemistry
- Genetics
- Neuroscience
Background:
- Alpha-mannosidosis (AM) is a rare lysosomal storage disease resulting from alpha-mannosidase enzyme deficiency.
- Key clinical manifestations include hearing impairment, intellectual disabilities, distinctive facial features, and motor deficits.
Purpose of the Study:
- To investigate cognitive function and daily living activities in patients with Alpha-mannosidosis.
- To characterize the developmental trajectory of cognitive abilities in AM patients.
Main Methods:
- The study included 35 AM patients aged 6-35 years.
- Cognitive function was assessed using the Leiter International Performance Scale-Revised (Leiter-R), including visual function, reasoning, memory, and attention batteries.
- Patient-reported outcomes were gathered using the Childhood Health Assessment Questionnaire (CHAQ) and EQ-5D-5 L.
Main Results:
- IQ scores ranged from 30-81, with significantly reduced mental ages (3-9 years for visual/reasoning, 2.3-10.2 years for memory).
- A specific developmental profile was observed, with intellectual development progressing until ages 10-12, followed by stabilization or slight increase.
- All patients exhibited varying degrees of dependence in social and practical daily living activities.
Conclusions:
- Intellectual disability is a hallmark of AM, presenting with considerable variability.
- AM patients demonstrate potential for ongoing cognitive development, particularly during childhood and early adolescence.
- Individualized educational planning should incorporate and support this developmental potential.
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