Cognitive profile and activities of daily living: 35 patients with alpha‐mannosidosis

Borgwardt, Line; Thuesen, A. M.; Olsen, KJ; Fogh, Jørgen; Dali, Christine í; Lund, Allan M.

doi:10.1007/s10545-015-9862-4

Cited by 18 publications

(21 citation statements)

References 28 publications

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“…The current findings thus suggest that the highest level of cognitive performance may be reached earlier than has been thought . In two other disorders of glycoprotein degradation, alpha‐mannosidosis and Salla disease, the developmental plateau is reached before the age of 13 . Naturally, final conclusions on the matter would require longitudinal studies.…”

Section: Discussionmentioning

confidence: 66%

“…Tentatively, also working memory scores were found to be at the lower end of the measured functions. Impairment in executive functions have been reported in other metabolic diseases as well, such as alpha‐mannosidosis and mucopolysaccharidosis II, although the level of impairment and the overall IQ level vary enormously between diseases. In the recent analysis of metabolic diseases, it has been proposed that executive functions rely on extensive brain resources, and the more severe the disease, the more impaired the executive functions .…”

Section: Discussionmentioning

confidence: 99%

“…For example, if a child had a raw score 5 in Similarities, the score was divided with the reference group mean, 13, resulting to a proportional score of .38. Subsequently, the proportional scores from each subtest were summarized and divided with the number of subtests (9). Subtests Coding and Symbol Search were excluded since the task is different for 6 to 7 and 8-to 16-year-old children.…”

Section: Neuropsychological Assessmentsmentioning

confidence: 99%

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Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria

Harjunen

Lainé

Tikkanen

et al. 2019

J of Inher Metab Disea

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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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Section: Discussionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 99%

Section: Neuropsychological Assessmentsmentioning

confidence: 99%

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Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria

Harjunen

Lainé

Tikkanen

et al. 2019

J of Inher Metab Disea

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“…The correlations were based on MRI, MRS, CSF‐biomarkers of neurodegeneration (T‐tau, GFAp, NFLp), CSF‐oligosaccharides and the level of intellectual disabilities. The intellectual disabilities were tested by Leiter International Performance Scale‐Revised (Leiter R) , and the results have previously been reported in a publication of ours .…”

Section: Methodsmentioning

confidence: 99%

Alpha‐mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function

et al. 2015

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Alpha-mannosidosis (AM) (OMIM 248500) is a rare lysosomal storage disease. The understanding of the central nervous system (CNS) pathology is limited. This study is the first describing the CNS pathology and the correlation between the CNS pathology and intellectual disabilities in human AM. Thirty-four patients, aged 6-35 years, with AM were included. Data from 13 healthy controls were included in the analysis of the magnetic resonance spectroscopy (MRS). Measurements of CNS neurodegeneration biomarkers in cerebrospinal fluid (CSF), CSF-oligosaccharides, and performance of cerebral magnetic resonance imaging (MRI) and MRS were carried out. On MRI, 5 of 10 patients had occipital white matter (WM) signal abnormalities, and 6 of 10 patients had age-inappropriate myelination. MRS demonstrated significantly elevated mannose complex in gray matter and WM. We found elevated concentrations of tau-protein, glial fibrillary acidic protein and neurofilament light protein in 97 patients, 74% and 41% of CSF samples, respectively. A negative correlation between CSF-biomarkers and cognitive function and CSF-oligosaccharides and cognitive function was found. The combination of MRS/MRI changes, elevated concentrations of CSF-biomarkers and CSF-oligosaccharides suggests gliosis and reduced myelination, as part of the CNS pathology in AM. Our data demonstrate early neuropathological changes, which may be taken into consideration when planning initiation of treatment.

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“…Their patients had a similar range of IQ scores as our cohort with a mean IQ of 42 and a range from 20 to 81, with most patients being in the moderate level of intellectual disability. Borgwardt et al used age‐equivalent and raw developmental scores which have the advantage of describing absolute changes in cognitive development (positive, arrested, or regression) rather than performance relative to same‐aged normal peers . However, three advantages of using standardized IQ measures as presented in the cohort here are the scores are age‐normed for comparison to typical peers, standardized IQ scores are more frequently reported in the alpha‐mannosidosis literature, and these measures are stable in adulthood.…”

Section: Discussionmentioning

confidence: 99%

Intellectual functioning in alpha‐mannosidosis

et al. 2019

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Alpha‐mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α‐mannosidase encoded by the gene MAN2B1. Patients have distinct physical and developmental features, but only limited information regarding standardized cognitive functioning of patients has been published. Here we contribute intellectual ability scores (IQ) on 12 patients with alpha‐mannosidosis (ages 8‐59 years, 10 males, 2 females). In addition, a pooled analysis was performed with data collected from this investigation and 31 cases obtained from the literature, allowing a comprehensive analysis of intellectual functioning in this rare disease. The initial and pooled analyses show that patients with alpha‐mannosidosis have variable degrees of intellectual disability but show decline in IQ with age, particularly during the first decade of life. Patients treated with hematopoietic stem cell transplantation tend to show stabilized cognitive abilities.

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Cognitive profile and activities of daily living: 35 patients with alpha‐mannosidosis

Cited by 18 publications

References 28 publications

Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria

Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria

Alpha‐mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function

Intellectual functioning in alpha‐mannosidosis

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