Predictive-coding theories assume that perception and action are based on internal models derived from previous experience. Such internal models require selection and consolidation to be stored over time. Sleep is known to support memory consolidation. We hypothesized that sleep supports both consolidation and abstraction of an internal task model that is subsequently used to predict upcoming stimuli. Human subjects (of either sex) were trained on deterministic visual sequences and tested with interleaved deviant stimuli after retention intervals of sleep or wakefulness. Adopting a predictive-coding approach, we found increased prediction strength after sleep, as expressed by increased error rates to deviant stimuli, but fewer errors for the immediately following standard stimuli. Sleep likewise enhanced the formation of an abstract sequence model, independent of the temporal context during training. Moreover, sleep increased confidence for sequence knowledge, reflecting enhanced metacognitive access to the model. Our results suggest that sleep supports the formation of internal models which can be used to predict upcoming events in different contexts. To efficiently interact with the ever-changing world, we predict upcoming events based on similar previous experiences. Sleep is known to benefit memory consolidation. However, it is not clear whether sleep specifically supports the transformation of past experience into predictions of future events. Here, we find that, when human subjects sleep after learning a sequence of predictable visual events, they make better predictions about upcoming events compared with subjects who stayed awake for an equivalent period of time. In addition, sleep supports the transfer of such knowledge between different temporal contexts (i.e., when sequences unfold at different speeds). Thus, sleep supports perception and action by enhancing the predictive utility of previous experiences.
Background Non-syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth. Although both severe and mild courses are known, the prediction of the natural history in clinical practice may be challenging.Objectives To determine clinical course and genotype-phenotype correlations in children affected by non-syndromic congenital ichthyosis in a case series from south-western Germany.Methods We performed a retrospective observational study of 32 children affected by non-syndromic congenital ichthyoses seen in our genodermatosis clinic between 2011 and 2020. Follow-ups included assessment of weight and severity of skin involvement utilizing a modified Ichthyosis Area Severity Index (mIASI). mIASI was calculated as a sum comprising the previously published IASI score and an additional novel score to evaluate palmoplantar involvement. Linear regression was assessed using Pearson correlation, and statistical analysis was performed using the Wilcoxon-Mann-Whitney test. ResultsThis study included 23 patients with autosomal recessive congenital ichthyosis, seven with keratinopathic ichthyosis and two with harlequin ichthyosis. Cutaneous manifestations improved in more than 70% of the children during the follow-up. Especially in patients with mutations in ALOXE3 and ALOX12B, mIASI scores dropped significantly. The most common phenotype observed in this study was designated 0 mild fine scaling ichthyosis 0 . Severe palmoplantar involvement occurred in patients with KRT1 and ABCA12 mutations; most patients demonstrated hyperlinearity as a sign of dryness and scaling. Weight was mainly in the normal range and negatively correlated with the severity of skin involvement.Conclusions Congenital ichthyosis that self-improves and evolves with mild fine scaling ichthyosis was the most common phenotype observed in our patients. This type might be underdiagnosed if the genetic diagnosis is not performed in the first year of life. mIASI is an easy and fast instrument for scoring disease severity and adding additional points for palmoplantar involvement might be valuable.
Background and objectives: Incontinentia pigmenti is a rare X-linked dominantly inherited systemic disease affecting primarily the skin but also other neuroectodermal tissues such as teeth, hair, eyes, and the central nervous system.Patients and methods: This multicenter case series study was conducted at three European departments of Dermatology including 30 patients with incontinentia pigmenti. Twenty patients were evaluated clinically and genetically, another ten only genetically. Results:The study included 28 females and two males with a median age of three years. Cutaneous manifestations were present in all 20 patients with clinical data. Stage I was observed in 90 % of those patients. Stage IV was observed as early as one year of age. Dental (81 %), hair (78 %) and neurological anomalies (53 %) were more frequent than previously reported. Fourteen skin biopsies showed typical features of the corresponding stage. Genetic testing of 24 patients revealed the common exon 4-10 deletion in 14 cases and seven other pathogenic variants, including three unpublished mutations. In another three cases, no genetic alterations were found. Conclusions:In this study, the phenotype ranged from only subtle cutaneous involvement to severe multisystemic disorders. Extracutaneous involvement should be evaluated at the time of diagnosis and in regular intervals, as some manifestations may develop over time.
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