Putative protective neural mechanisms in prereaders with a family history of dyslexia who subsequently develop typical reading skills

Developmental dyslexia affects 40–60% of children with a familial risk (FHD+) compared to a general prevalence of 5–10%. Despite the increased risk, about half of FHD+ children develop typical reading abilities (FHD+Typical). Yet the underlying neural characteristics of favorable reading outcomes in at‐risk children remain unknown. Utilizing a retrospective, longitudinal approach, this study examined whether putative protective neural mechanisms can be observed in FHD+Typical at the prereading stage. Functional and structural brain characteristics were examined in 47 FHD+ prereaders who subsequently developed typical (n = 35) or impaired (n = 12) reading abilities and 34 controls (FHD?Typical). Searchlight‐based multivariate pattern analyses identified distinct activation patterns during phonological processing between FHD+Typical and FHD?Typical in right inferior frontal gyrus (RIFG) and left temporo‐parietal cortex (LTPC) regions. Follow‐up analyses on group‐specific classification patterns demonstrated LTPC hypoactivation in FHD+Typical compared to FHD?Typical, suggesting this neural characteristic as an FHD+ phenotype. In contrast, RIFG showed hyperactivation in FHD+Typical than FHD?Typical, and its activation pattern was positively correlated with subsequent reading abilities in FHD+ but not controls (FHD?Typical). RIFG hyperactivation in FHD+Typical was further associated with increased interhemispheric functional and structural connectivity. These results suggest that some protective neural mechanisms are already established in FHD+Typical prereaders supporting their typical reading development.     

De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+)

SCN1A is one of the most relevant epilepsy genes. In general, de novo severe mutations, such as truncating mutations, lead to a classic form of Dravet syndrome (DS), while missense mutations are associated with both DS and milder phenotypes within the GEFS+ spectrum, however, these phenotype‐genotype correlations are not entirely consistent. Case report. We report an 18‐year‐old woman with a history of recurrent febrile generalized tonic‐clonic seizures (GTCS) starting at age four months and afebrile asymmetric GTCS and episodes of arrest, suggestive of focal impaired awareness seizures, starting at nine months. Her psychomotor development was normal. Sequencing of SCN1A revealed a heterozygous de novo truncating mutation (c.5734C>T, p.Arg1912X) in exon 26. Conclusion. Truncating mutations in SCN1A may be associated with milder phenotypes within the GEFS+ spectrum. Accordingly, SCN1A gene testing should be performed as part of the assessment for sporadic patients with mild phenotypes that fit within the GEFS+ spectrum, since the finding of a mutation has diagnostic, therapeutic and genetic counselling implications.     

Evidence-based pediatric asthma interventions and outcome measures in a healthy homes program: An integrative review

Objective: Asthma disproportionately impacts and has poorer outcomes in low-income, minority, and inner-city children. The home environment has a profound impact on a child's asthma. Home-based asthma visits have the potential to positively impact a child's asthma, especially in targeted populations. The purpose of this integrative review is 1.) to explore the effectiveness of home-based education and environmental measures and 2.) to explore specific indicators and tools to measure pediatric asthma control and program effectiveness. Data Sources: Medline, CINHAL, and Ovid databases were searched from 2010 to 2017 utilizing the keywords healthy homes AND asthma and home based interventions AND asthma. Study Selections: A total of 71 articles were retrieved of which 27 articles met the inclusion criteria of English language, human subjects, and the inclusion of pediatric populations. Three additional articles were hand-searched from previous references. In total, 30 articles were reviewed. A quality appraisal was conducted utilizing standardized appraisal tools. Results: Home-based asthma education and environmental interventions have proven to be effective. The programs reviewed varied in types of interventions, intensity and duration, the type of provider, length of follow-up, and outcome measures. Successful programs were patient-centered, included a home assessment and individualized education and interventions, and were collaborative. Multiple outcome indicators such as health care utilization, asthma control, missed days of school or productivity, asthma symptoms, and verification of environmental remediation have been utilized. Conclusion: Home-based asthma programs can be beneficial to children with poorly controlled asthma and have the potential to be cost-effective.     

儿童外科教学方法实践及探讨

目的探讨儿童外科的教学特点及教学方法,提高儿外科医生的总体执业水平,促进儿童外科学的发展。方法通过分析四川大学华西医院多年儿童外科疾病的临床教学实践经验,总结出适合医学生、初级儿童外科专科医生的实用的教学方法及经验。结果结合儿童外科特有的疾病特点所总结出的故事式讲述教学、典型病例教学、漫画形式学习、比较学习法及多媒体素材教学五种方式是非常适合儿童外科教学的方法。能够加深记忆,提高兴趣,轻松快捷,事半功倍的掌握相关医学专业知识。结论独特有趣的儿童外科教学方法可提高医学生及儿童外科初级从业者的学习兴趣、专业知识和执业水平。     

The difficulty of diagnosing NCSE in clinical practice; external validation of the Salzburg criteria

To improve the diagnostic accuracy of electroencephalography (EEG) criteria for nonconvulsive status epilepticus (NCSE), external validation of the recently proposed Salzburg criteria is paramount. We performed an external, retrospective, diagnostic accuracy study of the Salzburg criteria, using EEG recordings from patients with and without a clinical suspicion of having NCSE. Of the 191 EEG recordings, 12 (12%) was classified as an NCSE according to the reference standard. In the validation cohort, sensitivity was 67% and specificity was 89%. The positive predictive value was 47% and the negative predictive value was 95%. Ten patients in the control group (n = 93) were false positive, resulting in a specificity of 89.2%. The interrater agreement between the reference standards and between the scorers of the Salzburg criteria was moderate; disagreement occurred mainly in patients with an epileptic encephalopathy. The Salzburg criteria showed a lower diagnostic accuracy in our external validation study than in the original design, suggesting that they cannot replace the current practice of careful weighing of both clinical and EEG information on an individual basis.