AimTo determine the prevalence, number, and location of multiple (≥2) T2-hyperintensities on brain magnetic resonance imaging (MRI) in children with neurofibromatosis type 1 (NF1) and their correlation with age, and to establish their sensitivity, specificity, and accuracy for the diagnosis of NF1 in children, especially in the early age (2-7 years).MethodsWe performed a cross-sectional study of 162 patients with NF1 from Croatian Neurofibromatosis Association Database and 163 control children between the ages of 2 and 18 years who underwent brain MRI between 1989 and 2009.ResultsMultiple T2-hyperintensities were present in 74% of NF1 patients and 1.8% of controls. They were mainly located in the basal ganglia, brainstem, and cerebellum and were significantly decreased in prevalence and number in the older age. T2-hyperintensities had excellent diagnostic accuracy with the area under the receiver operating characteristic (ROC) curve of 0.849 and 95% confidence interval (CI) of 0.805-0.886. The diagnostic sensitivity, specificity, and accuracy rate of T2-hyperintensities for NF1 were highest in the youngest age (2-7 years): 81% (95% CI 71%-89.1%), 99% (95% CI 92.3%-100%), and 85.8 (95% CI 83.3-93.8), respectively.ConclusionThis study strongly suggests the inclusion of T2-hyperintensities on brain MRI on the list of diagnostic criteria for NF1, especially in children of early age, when the clinical penetration of the NF1 gene has not yet been completely finished.
The aim of the study was to assess sleep architecture and breathing in sleep in children with Down syndrome. The study was conducted by using overnight video-polysomnography (V-PSG) in children with Down syndrome and age-matched children from the general population. Analysis of polysomnographic parameters revealed that compared to the norms of healthy age-and maturitymatched children from the general population, children with Down syndrome had significantly shorter sleep latency (p=0.007), shorter total sleep time (p=0.004), lower sleep efficiency (p=0.010), less NREM1 sleep phase (p=0.0002), less NREM3 sleep phase (p=0.034), less REM sleep (p=0.034) in favour of more NREM2 phase but not significantly (p=0.069), and spent more time awake after sleep onset (p=0.0002). Children with Down syndrome had significantly more obstructive sleep apnoeas and hypopnoeas per hour (higher obstructive sleep apnoeas and hypopnoeas index) (p=0.008), but less central sleep apnoea per hour (lower central apnoeas index) (p=0.041), which led to the nonsignificantly lower total apnoea-hypopnoea index (p=0.762) in children with Down syndrome. The mean and longest apnoea duration did not differ significantly between these two groups. Children with Down syndrome had a significantly lower mean and nadir oxygen saturation (p=0.008 and p=0.001, respectively). In conclusion, the majority of respiratory complications in children with Down syndrome can be prevented by raising awareness of sleep disturbances in children with Down syndrome among their parents and health care providers and by introducing early routine V-PSG in the follow up of these children.
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