Neurocognitive functions and behavioral profiles in children with nephropathic cystinosis

Aly, Reham; Makar, Samuel H; Bakri, Azza El; Soliman, Neveen A.

doi:10.4103/1319-2442.144256

Cited by 14 publications

(5 citation statements)

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“…Neurocognitive assessments showed lower verbal and non-verbal IQs in individuals with cystinosis, when compared to their control peers. We and others had previously reported lower IQ scores in this population [ 15 , 16 , 19 , 23 ] and, as in other studies, our findings (see Table 1 ) indicate greater difficulties in non-verbal processing [ 18 – 22 , 27 ]. Of note, scales like the Wechsler Scales of Intelligence have an unbalanced number of timed non-verbal vs verbal subtests.…”

Section: Discussionsupporting

confidence: 90%

Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)

Horsthuis,

Molholm,

Foxe

et al. 2023

Orphanet J Rare Dis

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Background Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact on neural function appears mild relative to its effects on other organs during early disease, but since therapeutic advances have led to substantially increased life expectancy, neurological implications are of increasing interest, necessitating deeper understanding of the impact of cystinosis on neurocognitive function. Behavioral difficulties have been reported in cystinosis in the visual domain. Very little is known, however, about how the brains of people living with cystinosis process visual information. This is especially interesting given that cystine accumulation in the cornea and posterior ocular structures is a hallmark of cystinosis. Methods Here, high-density scalp electrophysiology was recorded to visual stimuli (during a Go/No-Go task) to investigate visual processing in individuals with cystinosis, compared to age-matched controls. Analyses focused on early stages of cortical visual processing. Results The groups differed in their initial cortical response, with individuals with cystinosis exhibiting a significantly larger visual evoked potential (VEP) in the 130–150 ms time window. The groups also differed in the associations between neural responses and verbal abilities: While controls with higher IQ scores presented larger neural responses, that relationship was not observed in cystinosis. Conclusions The enlarged VEP in cystinosis could be the result of cortical hyperexcitability and/or differences in attentional engagement and explain, at least partially, the visual and visual-spatial difficulties described in this population.

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Section: Discussionsupporting

confidence: 90%

Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)

Horsthuis,

Molholm,

Foxe

et al. 2023

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Neurocognitive assessments showed lower verbal and non-verbal IQs in individuals with cystinosis, when compared to their control peers. We and others had previously reported lower IQ scores in this population (15,16,19,23) and, as in other studies, our findings (see Table 1) indicate greater difficulties in nonverbal processing (18)(19)(20)(21)(22)27). Of note, scales as the Wechsler Scales of Intelligence have an unbalanced number of timed non-verbal vs verbal subtests.…”

Section: Discussionsupporting

confidence: 87%

“…This pattern appears to emerge early in development and to persist throughout the lifespan (20,21), regardless of age at treatment onset (22). Significant difficulties have also been described in visual-motor, visual-spatial and visual memory skills (22)(23)(24)(25)(26), but see (27) for a report of maintained visual learning in adults with cystinosis. Despite this pattern of relative weaknesses in visual processing domains, very little is known about how the brains of people living with cystinosis process visual information.…”

Section: Introductionmentioning

confidence: 99%

Event-related potential (ERP) evidence of early visual processing differences in cystinosis

Horsthuis

Molholm

Foxe

et al. 2023

Preprint

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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. Behavioral difficulties have been reported in cystinosis in the visual and visual-processing domain. Very little is known, however, about how the brains of people living with cystinosis process visual information, although cysteamine accumulation in the retina is a prominent feature of cystinosis. Here, electrophysiology was recorded during a Go/No-Go task to investigate early visual processing in cystinosis, compared to an age-matched control group. Analyses focused on early stages of cortical visual processing. The groups differed in their initial cortical response, with individuals with cystinosis exhibiting a significantly larger visual evoked potential (VEP) in the 130 to 150 ms time window. The timing and topography of this response suggested an enhanced P1 in cystinosis that could be the result of cortical hyperexcitability and/or differences in attentional engagement and explain, at least partially, the visual and visual-spatial difficulties described in this population. The groups also differed in the associations between neural responses and verbal abilities: While controls with higher IQ scores presented larger neural responses, that relationship was not observed in cystinosis.

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“…Although cystinosis was not considered to affect brain function, it is now known that cystinosis can result in neurocognitive deficits in adults as well as children. These include impaired visual spatial, visual memory, language problems, academic impairment, seizures, memory impairment, motor incoordination, and neuromuscular dysfunction and is often accompanied by structural abnormalities in the brain (80)(81)(82). Early treatment with cysteamine orally prevents several of these neurocognitive deficits.…”

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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Neurocognitive functions and behavioral profiles in children with nephropathic cystinosis

Cited by 14 publications

References 0 publications

Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)

Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)

Event-related potential (ERP) evidence of early visual processing differences in cystinosis

Therapeutic Applications of Cysteamine and Cystamine in Neurodegenerative and Neuropsychiatric Diseases

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