Cognitive Performance of Patients with Adult 5q-Spinal Muscular Atrophy and with Amyotrophic Lateral Sclerosis

Osmanovic, Alma; Wieselmann, Gary; Mix, Lucas; Siegler, Hannah Alexandra; Kumpe, Mareike; Ranxha, Gresa; Wurster, Claudia D.; Steinke, Alexander; Ludolph, Albert C.; Kopp, Bruno; Lulé, Dorothée; Petri, Susanne; Schreiber‐Katz, Olivia

doi:10.3390/brainsci11010008

Cited by 12 publications

(14 citation statements)

References 49 publications

(76 reference statements)

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“…While the questions in the MFI covering physical fatigue and reduced activity mostly aim at physical aspects and are presumably answered with regard to actual function by the patients, the questions covering mental fatigue , and reduced motivation are abstract and aim at cognitive processing. As SMA patients suffer from severe motoric symptoms but not from cognitive impairments, 38 they may report high physical fatigue , but cognitive constructs such as motivation or mental exhaustion may be less relevant. Regarding the association of the different fatigue dimensions with sociodemographic characteristics, age correlated positively with general and physical fatigue , which is in line with previous studies of fatigue in general 21,39 .…”

Section: Discussionmentioning

confidence: 99%

“…Regarding the presence of clinically relevant fatigue, only physical fatigue exceeded the cutoff defined by Singer et al for patients aged < 60 years (≥ 11 points). 38 While the questions in the MFI covering physical fatigue and reduced activity mostly aim at physical aspects and are presumably answered with regard to actual function by the patients, the questions covering mental fatigue, and reduced motivation are abstract and aim at cognitive processing. As SMA patients suffer from severe motoric symptoms but not from cognitive impairments, 38 they may report high physical fatigue, but cognitive constructs such as motivation or mental exhaustion may be less relevant.…”

Section: Discussionmentioning

confidence: 99%

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Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy

Binz

Osmanovic

Thomas

et al. 2022

Ann Clin Transl Neurol

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Objective Fatigue is a common and burdensome symptom of spinal muscular atrophy. Given its complex interactions, different dimensions of fatigue need to be investigated. The Multidimensional Fatigue Inventory is a widely used instrument that captures five distinct dimensions. The aim of this study was to investigate the validity and reliability of the German Multidimensional Fatigue Inventory in spinal muscular atrophy and to evaluate the presence of clinically relevant fatigue. Methods One hundred and forty adult spinal muscular atrophy patients completed the Multidimensional Fatigue Inventory in a nationwide, multicenter, cross‐sectional study. Structural validity was explored using principal component analysis. Cronbach’s α was calculated to evaluate internal consistency. Convergent validity was assessed by correlation with a Visual Analog Scale for fatigue and the EuroQol‐Five Dimension‐Five Level Scale as a measure of quality of life. Results The original five‐component model of the questionnaire constituted an acceptable fit. Internal consistency and convergent validity of general, physical, mental fatigue, and reduced activity were good. We observed a floor effect for mental fatigue. While physical fatigue exceeded the cutoff for clinically relevant fatigue, all dimensions but reduced motivation correlated negatively with quality of life. Age, depression, and ≥4 copies of the survival motor neuron 2 gene were associated with higher general/physical fatigue; unemployed participants reported higher scores for reduced activity/motivation. Interpretation The Multidimensional Fatigue Inventory is a valid and reliable instrument to assess different dimensions of fatigue in spinal muscular atrophy. Fatigue is a relevant problem in spinal muscular atrophy and its assessment should be incorporated into standard care.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy

Binz

Osmanovic

Thomas

et al. 2022

Ann Clin Transl Neurol

Self Cite

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“…One study also included adults but focused on SMA types rather than age [ 22 ]. Another recently published study focuses on the cognitive performance of adult SMA patients compared to patients suffering from ALS [ 32 ]. In previous studies, cognitive performance of children with SMA varies from average [ 21 , 33 ], above-average [ 18 ], and below-average [ 19 , 20 , 22 ].…”

Section: Discussionmentioning

confidence: 99%

“…In a study comparing the cognitive performance of SMA patients with patients suffering from ALS, the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) was used. SMA patients achieved better results in terms of cognitive performance compared to the ALS patients [ 32 ]. ALS, similar to SMA, is a motor neuron disease, but with profound differences in pathophysiology.…”

Section: Discussionmentioning

confidence: 99%

Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy

et al. 2021

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In previous studies, a below-average, average, or above-average intelligence quotient (IQ) in children with SMA was detected but, aside from a severe physical disability, the cognitive performance of adult SMA patients has not yet been evaluated. The intelligence test used in this study, the Wechsler Adult Intelligence Scale, fourth edition (WAIS-IV), was used to measure major intelligence components of adult SMA patients. The WAIS-IV determines four index scores representing verbal comprehension, perceptual reasoning, working memory, and processing speed. Due to time-dependent demands on motor function, the processing speed index score was excluded. IQ index scores of 33 adult SMA patients did not differ from IQ index scores of the normal population. In SMA type-3 patients, the index scores for verbal comprehension, perceptual reasoning, and working memory did not differ from the normal population but showed a trend of IQ scores towards lower points. Patients with SMA type 2 had lower IQ index scores for working memory (90.33 ± 12.95; p = 0.012) and perceptual reasoning (90.73 ± 12.58; p = 0.013) than the normal population. This study provided further evidence that SMA is a multi-systemic disease and may refute the widespread hypothesis that SMA patients might improve their cognitive skills to compensate for their physical impairment.

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“…The number of correctly identified target words was converted to an IQ estimate based on published norms (Schmidt & Metzler, 1992). ALS patients’ performance on this specific test has been shown to remain intact (Lange et al., 2016; Neudert et al., 2001; Temp et al., 2021), and independent from physical disability (Osmanovic et al., 2020; Temp et al., 2021).…”

Section: Methodsmentioning

confidence: 99%

Loss of “insight” into behavioral changes in ALS: Differences across cognitive profiles

et al. 2021

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Objective: Behavioral impairment occurs in amyotrophic lateral sclerosis (ALS) and ALS-fronto-temporal dementia (ALS-FTD). It has been proposed that ALS patients without FTD retain an awareness of their behavioral impairment while ALS-FTD patients lose this awareness (referred to as retention vs. loss of "insight"). Loss of insight has not yet been studied across the entire ALS-FTD spectrum; our study addresses this gap by including patients with all the ALS cognitive-behavioral profiles.Methods: Eighty-three ALS patients (and their informants) took part in this bicentric study involving two German recruitment sites. Patients and informants completed the Frontal Systems Behavior Scale covering the domains of apathy, disinhibition, and executive dysfunctioning. Patients were classified into five groups according to the Strong and Rascovsky criteria: cognitively unimpaired (ALSni), cognitively impaired without dementia (ALSci), behaviorally impaired (ALSbi), a combination of behaviorally and cognitively impaired (ALScbi), and ALS-FTD. We applied Bayesian two-way ANOVA to test whether there were subgroup differences regarding insight into their behavioral decline.Results: All patient subgroups experienced behavioral decline (Bayes factor > 3). Only ALS-FTD patients lost insight into disinhibition and executive dysfunctioning. ALSbi patients exhibited worse insight than ALSni and ALSci patients (Bayes factor > 10). Evidence regarding the ALScbi patients was inconclusive. Higher IQ was associated with worse insight (Bayes factor > 3). Conclusions:Our findings provide solid support for the notion that ALS patients without dementia experience behavioral decline regardless of their cognitive-behavioral profile and retain different levels of insight into this decline. The inverse association of premorbid verbal intelligence with insight was unexpected, leaving room for further investigation.

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Cognitive Performance of Patients with Adult 5q-Spinal Muscular Atrophy and with Amyotrophic Lateral Sclerosis

Cited by 12 publications

References 49 publications

Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy

Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy

Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy

Loss of “insight” into behavioral changes in ALS: Differences across cognitive profiles

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