Specific Cognitive Deficits in Young Children with Cystinosis: Evidence for an Early Effect of the Cystinosin Gene on Neural Function

Trauner, Doris A.; Spilkin, Amy M.; Williams, J C; Babchuck, Lynne

doi:10.1016/j.jpeds.2007.02.062

Cited by 35 publications

(29 citation statements)

References 18 publications

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“…found that Children with cystinosis performed significantly more poorly on tests of visual Spatial and visual motor function than did controls. This deficit is associated with intact visual perception, but impaired spatial processing and memory[7,8], and is associated with deficits in mathematical skills[9]. Young children with cystinosis demonstrated a discrepancy such that non-verbal IQ indices (Performance IQ and Processing Speed Index) were significantly lower than verbal IQ indices[10].…”

Section: Discussionmentioning

confidence: 99%

Differential gene expression in patients with subsyndromal symptomatic depression and major depressive disorder

Yang

et al. 2017

PLoS ONE

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BackgroundSubsyndromal symptomatic depression (SSD) is a subtype of subthreshold depressive and can lead to significant psychosocial functional impairment. Although the pathogenesis of major depressive disorder (MDD) and SSD still remains poorly understood, a set of studies have found that many same genetic factors play important roles in the etiology of these two disorders. Nowadays, the differential gene expression between MDD and SSD is still unknown. In our previous study, we compared the expression profile and made the classification with the leukocytes by using whole-genome cRNA microarrays among drug-free first-episode subjects with SSD, MDD and matched healthy controls (8 subjects in each group), and finally determined 48 gene expression signatures. Based on these findings, we further clarify whether these genes mRNA was different expressed in peripheral blood in patients with SSD, MDD and healthy controls (60 subjects respectively)MethodWith the help of the quantitative real-time reverse transcription-polymerase chain reaction (RT-qPCR), we gained gene relative expression levels among the three groups.ResultsWe found that there are three of the forty eight co-regulated genes had differential expression in peripheral blood among the three groups, which are CD84, STRN, CTNS gene (F = 3.528, p = 0.034; F = 3.382, p = 0.039; F = 3.801, p = 0.026, respectively) while there were no significant differences for other genes.ConclusionCD84, STRN, CTNS gene may have significant value for performing diagnostic functions and classifying SSD, MDD and healthy controls.

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Section: Discussionmentioning

confidence: 99%

Differential gene expression in patients with subsyndromal symptomatic depression and major depressive disorder

Yang

et al. 2017

PLoS ONE

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“…Neurological co-morbidity was the most negative predictor of poor motor performance [41]. It has been suggested that mutations in the CTNS gene may influence brain development [42]. However, at least two studies have been unable to find a correspondence between intellectual development and cognitive functioning and the degree of observed cerebral atrophy [39,43].…”

Section: Discussionmentioning

confidence: 99%

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis

et al. 2009

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Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited. We have investigated nine patients (four after renal transplantation) at a median age of 9.7 years (range 5.3-19.9 years). Intellectual performance (IP) was analysed with the Wechsler Intelligence Scale for Children-III (seven children) and the Kaufman Assessment Battery for Children (two children). Motor performance (MP) was evaluated using the Zurich Neuromotor Assessment Test, and quality of life (QOL) was studied by means of the Netherlands Organization for Applied Scientific Research Academical Medical Center Child Quality of Life Questionnaire. Psychosocial adjustment was assessed by the Child Behavior Checklist. The overall intelligence quotient (IQ) of our patient cohort (median 92, range 71-105) was significantly lower than that of the healthy controls (p=0.04), with two patients having an IQ<85. Verbal IQ (93, range 76-118) was significantly higher than performance IQ (90, range 68-97; p=0.03). The MP was significantly below the norm for pure motor, pegboard and static balance, as well as for movement quality. The patients' QOL was normal for six of seven dimensions (exception being positive emotions), whereas parents reported significant impairment in positive emotions, autonomy, social and cognitive functions. Significant disturbance was noted in terms of psychosocial adjustment. Based on the results from our small patient cohort, we conclude that intellectual and motor performance, healthrelated QOL and psychosocial adjustment are significantly impaired in children and adolescents with cystinosis.

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“…Most commonly reported have been neurobehavioral abnormalities and motor disturbances. Cognitive and behavioral abnormalities are frequently observed in children with cystinosis [13][14][15]. A unique impairment in visuospatial perception has been observed in even very young children with cystinosis suggesting that some cognitive deficits may be result from the gene defect on brain development rather than arising from prolonged cystine accumulation [15].…”

Section: Discussionmentioning

confidence: 99%

Cystinosis of the brain and spinal cord with associated vasculopathy

Berger

Dillon

Young

et al. 2009

Journal of the Neurological Sciences

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Specific Cognitive Deficits in Young Children with Cystinosis: Evidence for an Early Effect of the Cystinosin Gene on Neural Function

Cited by 35 publications

References 18 publications

Differential gene expression in patients with subsyndromal symptomatic depression and major depressive disorder

Differential gene expression in patients with subsyndromal symptomatic depression and major depressive disorder

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis

Cystinosis of the brain and spinal cord with associated vasculopathy

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