Visual and verbal learning and memory in cystinosis

Frankel, Alexandra M.; Trauner, Doris A.

doi:10.1016/j.bandc.2019.103578

Cited by 12 publications

(12 citation statements)

References 8 publications

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“…Myelination atypicalities could subsequently hinder the development of cortical projections crucial for complex cognitive processes . The expected discrepancy between verbal and non-verbal indices (Frankel & Trauner, 2019;Spilkin et al, 2007;Ulmer et al, 2009) was also observed in the current study. Such a discrepancy could be explained by abnormal white mater microstructure in visual-related areas: In a diffusion tensor imaging study, children diagnosed with Cystinosis presented decreased fractional anisotropy and increased mean diffusivity in the dorsal visual pathway (Bava et al, 2010).…”

Section: Discussionsupporting

confidence: 84%

“…Cognitively, individuals diagnosed with Cystinosis often present intelligence quotients (IQ) in the typical range, but lower IQs have also been reported (Aly, Makar, El Bakri, & Soliman, 2014;Ulmer et al, 2009). A differential between non-verbal and verbal indices is consistently reported in this population, with the former being significantly lower than the latter (Frankel & Trauner, 2019;Spilkin, Ballantyne, Babchuck, & Trauner, 2007;Ulmer et al, 2009). This pattern appears to emerge early in development and to persist throughout the lifespan (Scarvie, Ballantyne, & Trauner, 1996;Trauner, Chase, Scheller, Katz, & Schneider, 1988), regardless of age at treatment onset (Viltz & Trauner, 2013).…”

Section: Introductionmentioning

confidence: 72%

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Electrophysiological evidence for impaired auditory sensory memory in Cystinosis despite typical sensory processing: An MMN investigation

et al. 2019

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Cystinosis, a genetic rare disease characterized by cystine accumulation and crystallization, results in significant damage in a multitude of tissues and organs, such as the kidney, thyroid, eye, and brain. While Cystinosis' impact on brain function is relatively mild compared to its effects on other organs, the increased lifespan of this population and thus potential for productive societal contributions have led to increased interest on the effects on brain function. Nevertheless, and despite some evidence of structural brain differences, the neural impact of the mutation is still not well characterized.Here, using a passive duration oddball paradigm (with different stimulus onset asynchronies (SOAs), representing different levels of demand on memory) and high-density electrophysiology, we tested basic auditory processing in a group of 22 children and adolescents diagnosed with Cystinosis (age range: 6-17 years old) and in neurotypical age-matched controls (N=24). We examined whether the N1 and mismatch negativity (MMN) significantly differed between the groups and if those neural measures correlated with verbal and non-verbal IQ.Individuals diagnosed with Cystinosis presented similar N1 responses to their age-matched peers, indicating typical basic auditory processing in this population. However, whereas both groups showed similar MMN responses for the shortest (450ms) SOA, suggesting intact change detection and sensory memory, individuals diagnosed with Cystinosis presented clearly reduced responses for the longer (900ms and 1800ms) SOAs. This could indicate reduced duration auditory sensory memory traces, and thus sensory memory impairment, in children and adolescents diagnosed with Cystinosis. Future work addressing other aspects of sensory and working memory is needed to understand the underlying bases of the differences described here, and their implication for higher order processing.

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Section: Discussionsupporting

confidence: 84%

Section: Introductionmentioning

confidence: 72%

Electrophysiological evidence for impaired auditory sensory memory in Cystinosis despite typical sensory processing: An MMN investigation

et al. 2019

Preprint

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“…Patients with cystinosis treated at or after age 2 years (late-treatment group) score poorer than the early treatment group (before 2 years) on verbal, performance, and full-scale IQ tests and tests rating visual-spatial skills (83). Similarly, adults with cystinosis who receive consistent chronic treatment with cysteamine fare better on visual learning and memory skills (84).…”

Section: Neurological Complications Of Cystinosismentioning

confidence: 99%

Therapeutic Applications of Cysteamine and Cystamine in Neurodegenerative and Neuropsychiatric Diseases

Paul

Snyder

2019

Front. Neurol.

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“…Studies investigating cognitive and neural function in adults with cystinosis are scarce and tend to be inconsistent. For example, two behavioral studies using the same verbal and visual learning/memory paradigm reported con icting ndings: While one suggested an overall decline in performance with age in cystinosis, indicating progressive dysfunction over the lifespan (13), a later study from the same group reported no differences between adults with and without cystinosis (14). Frankel and Trauner (2019) argued that potential earlier treatment onset and overall advances in treatment might have prevented or reduced cognitive de cits in their sample.…”

Section: Introductionmentioning

confidence: 99%

“…Considering earlier work suggesting associations between auditory sensory memory and working memory (30)(31)(32), we also tested working memory capacity and its association with the MMN. Additionally, given the consistently described discrepancies between verbal and non-verbal IQ in cystinosis (14,33,34), we measured verbal IQ and perceptual reasoning. Lastly, to account for the potential impact of number of renal transplants and cysteamine dosage on the amplitude of the components of interest, we tested for associations between these variables.…”

Section: Introductionmentioning

confidence: 99%

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)

Francisco

Berruti

Kaskel

et al. 2021

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Background Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but therapeutic advances have led to substantially increased life expectancy, necessitating deeper understanding of its impact on neurocognitive function in adulthood. We previously demonstrated intact auditory sensory processing, accompanied by mild sensory memory difficulties, in children and adolescents with cystinosis. Methods We investigated whether further progressive decrements in these processes would be observed in adults with cystinosis, comparing high-density auditory-evoked potential (AEP) recordings from adults with cystinosis (N = 15; ages: 19–38 years) to those of age-matched controls (N = 17). We employed a duration oddball paradigm with different stimulation rates, in which participants passively listened to regularly occurring standard tones interspersed with infrequently occurring deviant tones. Analyses focused on AEP components reflecting auditory sensory-perceptual processing (N1 and P2), sensory memory (mismatch negativity, MMN), and attentional orienting (P3a). Results Overall, adults with cystinosis produced highly similar sensory-perceptual AEP responses to those observed in controls suggesting intact early auditory cortical processing. However, significantly increased P2 and P3a amplitudes and reduced MMN at slower stimulation rates were observed, suggesting mild-to-moderate changes in auditory sensory memory and attentional processing. While cognitive testing revealed lower scores on verbal IQ and perceptual reasoning in cystinosis, these did not correlate with the AEP measures. Conclusions These neurophysiological data point to the emergence of subtle auditory processing deficits in early adulthood in cystinosis, warranting further investigation of memory and attentional processes in this population, and of their consequences for perceptual and cognitive function.

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Visual and verbal learning and memory in cystinosis

Cited by 12 publications

References 8 publications

Electrophysiological evidence for impaired auditory sensory memory in Cystinosis despite typical sensory processing: An MMN investigation

Electrophysiological evidence for impaired auditory sensory memory in Cystinosis despite typical sensory processing: An MMN investigation

Therapeutic Applications of Cysteamine and Cystamine in Neurodegenerative and Neuropsychiatric Diseases

Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)

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