Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300 event-related potential (ERP) associated with WM in NF1. Sixteen adolescents with NF1 were compared with controls on measures of WM and EEG was recorded during a WM nback task. The NF1 group showed poorer performance on measures of WM as compared to the control group. No group differences were observed in P300 amplitude at Pz, but P300 latency was shorter in the NF1 group. Topographic analyses of P300 amplitude showed group differences indicating neural processing differences in the NF1 group relative to controls, which possibly contribute to the cognitive deficits seen in this population.
Background: Offspring of diabetic rats have reduced urinary calcium and magnesium excretion compared with offspring of controls; these differences persist up to16 weeks after birth, a time equivalent to young adulthood in humans. Objectives: To test the hypothesis that urinary calcium and magnesium excretion would be lower in children born to mothers with insulin dependent diabetes mellitus (ChMIDDM) than those born to nondiabetic mothers. Methods: Concentrations of calcium, magnesium, sodium, and creatinine were measured in first void spot urine samples collected from 45 (28 male; median age 9.6 years) ChMIDDM and 127 (58 male; median age 11.3 years) controls. Analysis of covariance was used to test for differences in urinary calcium to creatinine ratios (UCa/Cr), magnesium to creatinine ratios (UMg/Cr), and log sodium to creatinine ratios (logUNa/Cr) between controls and ChMIDDM after allowing for the effects of sex and age. Results: UCa/Cr (difference 20.10, 95% confidence interval (CI) 20.19 to 20.01; p = 0.03) and UMg/ Cr (difference 20.15, 95% CI 20.22 to 20.08; p,0.0001) were lower in ChMIDDM than controls. However, logUNa/Cr did not differ between ChMIDDM and controls (difference 20.14, 95% CI 20.33 to 0.05; p = 0.1). The daily estimated intake of magnesium, sodium, and protein were significantly higher and that of calcium non-significantly higher in ChMIDDM than controls. In ChMIDDM, UCa/Cr and UMg/ Cr were not related to diabetic control of mothers. Conclusions: Results of this study provide the first evidence that in humans, as in rats, there is modification of renal Ca and Mg handling in ChMIDDM, which persists well into childhood.
Aim
This study describes the prevalence and severity of perceived fatigue in a young neurofibromatosis type 1 (NF1) population.
Methods
Ethical approval was obtained and NF1 affected Individuals aged 2–18 years from the Manchester's NF1 clinic invited along with any unaffected siblings. The PedsQL Multidimensional Fatigue Scale Parental and child report was used. This validated measure explores cognitive, physical and sleep/rest domains on a 0–100 scale. Higher scores indicate less fatigue. Fatigue scores in affected children were compared to unaffected siblings after adjusting for age, sex and Index of Multiple Deprivation and with published population standards using z‐scores.
Results
A total of 286 families were invited and 75 affected and 16 siblings participated. There were significant differences between NF1 and controls in the aggregated fatigue core (child report 55 ± 19 vs. 75 (14), P < 0.001; parent 54 ± 20 vs. 73 ± 18, P = 0.001) and the three sub‐domains: cognitive (child 48 ± 27 vs. 75 ± 23, P < 0.001), physical (child 59 ± 19 vs. 82 ± 14, P < 0.001) and sleep/rest (child 59 ± 19 vs. 71 ± 15, P = 0.018). Similar differences were seen when compared with published controls (aggregated child z‐score −1.9 ± 1.4, P < 0.001; parent −3.2 ± 1.8, P < 0.001). Prevalence of severe fatigue indicated by scores <2 standard deviation below published means for healthy controls were also higher for children with NF on both parent and child reports. Agreement between child and parent reports were limited as is frequently seen in the literature.
Conclusion
This study suggests that children with NF1 are affected by perceived fatigue when compared with healthy children who do not have NF1.
The authors speculate that the intrauterine diabetic environment is associated with an increase in linear growth, adiposity and larger bone dimensions during childhood and adolescence.
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