Dysarthria and broader motor speech deficits in Dravet syndrome

Objective: To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations in SCN1A. Methods: Fifteen verbal and 5 minimally verbal DS patients with SCN1A mutations (aged 15 months-28 years) underwent a tailored assessment battery. Results: Speech was characterized by imprecise articulation, abnormal nasal resonance, voice, and pitch, and prosody errors. Half of verbal patients had moderate to severely impaired conversational speech intelligibility. Oral motor impairment, motor planning/programming difficulties, and poor postural control were typical. Nonverbal individuals had intentional communication. Cognitive skills varied markedly, with intellectual functioning ranging from the low average range to severe intellectual disability. Language impairment was congruent with cognition. Conclusions: We describe a distinctive speech, language, and oral motor phenotype in children and adults with DS associated with mutations in SCN1A. Recognizing this phenotype will guide therapeutic intervention in patients with DS

Concussion Knowledge and Self-Reported Behaviors in Youth Rugby Players and Their Coaches: A Population-Wide Cross-Sectional Survey

Objective: To investigate concussion knowledge and self-reported behaviors in Italian youth rugby players and their coaches. To investigate predictors of lower concussion knowledge and association between athletes' self-reported knowledge and behavior. Design: Cross-sectional, population-wide, survey study. Setting: All rugby clubs (n = 52) of the Veneto region (Italy). Participants: Players and coaches of all under 15, 17 and 19 teams. Overall, 1719 athlete surveys (92.2% male; response rate, 71.1%) and 235 coach surveys (93.6% male; response rate, 93.2%) were eligible for analysis. Intervention: Surveys circulated from September 20 to December 13, 2021. Main outcome measures: Knowledge scores were reported as a percentage of correct answers. Descriptive statistics were reported for all answers. The primary outcomes were concussion knowledge and self-reported behaviors. The secondary outcomes were the association between knowledge and participant individual factors and self-reported behaviors. Results: Median knowledge score for athletes was 55% (IQR: 44-67) and for coaches was 60% (IQR: 52.5-69). Only 33.3% of athletes and 40% of coaches were aware of an increased risk of a second concussion after sustaining one. Athletes who had never heard of the word concussion (effect: -9.31; SE: 1.35, 95% CI: -12.0 to -6.7; P < 0.0001) and coaches with longer coaching experience (effect: -4.35; SE: 2.0, 95% CI: -8.29 to -0.41; P < 0.03) reported lower knowledge scores. There was no statistical association between knowledge scores and athlete self-reported behavior. Conclusion: Athletes and coaches had a similar level of concussion knowledge. Knowledge score of athletes did not predict self-reported behaviors. Although enhanced concussion education should be undertaken, interventions to ensure appropriate concussion reporting behaviors are also required

The impact of cognitive aids on resuscitation performance in in-hospital cardiac arrest scenarios: a systematic review and meta-analysis

Different cognitive aids have been recently developed to support the management of cardiac arrest, however, their effectiveness remains barely investigated. We aimed to assess whether clinicians using any cognitive aids compared to no or alternative cognitive aids for in-hospital cardiac arrest (IHCA) scenarios achieve improved resuscitation performance. PubMed, EMBASE, the Cochrane Library, CINAHL and ClinicalTrials.gov were systematically searched to identify studies comparing the management of adult/paediatric IHCA simulated scenarios by health professionals using different or no cognitive aids. Our primary outcomes were adherence to guideline recommendations (overall team performance) and time to critical resuscitation actions. Random-effects model meta-analyses were performed. Of the 4.830 screened studies, 16 (14 adult, 2 paediatric) met inclusion criteria. Meta-analyses of eight eligible adult studies indicated that the use of electronic/paper-based cognitive aids, in comparison with no aid, was significantly associated with better overall resuscitation performance [standard mean difference (SMD) 1.16; 95% confidence interval (CI) 0.64; 1.69; I2 = 79%]. Meta-analyses of the two paediatric studies, showed non-significant improvement of critical actions for resuscitation (adherence to guideline recommended sequence of actions, time to defibrillation, rate of errors in defibrillation, time to start chest compressions), except for significant shorter time to amiodarone administration (SMD - 0.78; 95% CI - 1.39; - 0.18; I2 = 0). To conclude, the use of cognitive aids appears to have benefits in improving the management of simulated adult IHCA scenarios, with potential positive impact on clinical practice. Further paediatric studies are necessary to better assess the impact of cognitive aids on the management of IHCA scenarios

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

This study describes monozygotic (MZ) male twins with fragile X syndrome (FXS), mosaic for normal size (NS: &lt;44 CGGs), premutation (PM: 55&#8211;199 CGG) and full mutation (FM alleles &#8805; 200) alleles, with autism. At 4 years of age chromosomal microarray confirmed monozygosity with both twins showing an XY sex complement. Normal size (30 CGG), PM (99 CGG) and FM (388&#8211;1632 CGGs) alleles were detected in Twin 1 (T1) by standard polymerase chain reaction (PCR) and Southern blot testing, while only PM (99 CGG) and FM (672&#8211;1025) alleles were identified in Twin 2 (T2). At ~5 years, T2 had greater intellectual impairments with a full scale IQ (FSIQ) of 55 and verbal IQ (VIQ) of 59, compared to FSIQ of 62 and VIQ of 78 for T1. This was consistent with the quantitative FMR1 methylation testing, revealing 10% higher methylation at 80% for T2; suggesting that less active unmethylated alleles were present in T2 as compared to T1. AmplideX methylation PCR also identified partial methylation, including an unmethylated NS allele in T2, undetected by standard testing. In conclusion, this report demonstrates significant differences in intellectual functioning between the MZ twins mosaic for NS, PM and FM alleles with partial FMR1 promoter methylation

Penetrating head injuries in children presenting to the emergency department in Australia and New Zealand: A PREDICT prospective study

© 2018 Paediatrics and Child Health Division (The Royal Australasian College of Physicians) Aim: Penetrating head injuries (pHIs) are associated with high morbidity and mortality. Data on pHIs in children outside North America are limited. We describe the mechanism of injuries, neuroimaging findings, neurosurgery and mortality for pHIs in Australia and New Zealand. Methods: This was a planned secondary analysis of a prospective observational study of children 24 h, admission >2 days and abnormal computed tomography). Results: Of 20 137 evaluable patients with a head injury, 21 (0.1%) were identified to have sustained a pHI. All injuries were of non-intentional nature, and there were no gunshot wounds. The mechanisms of injuries varied from falls, animal attack, motor vehicle crashes and impact with objects. Mean Glasgow Coma Scale on ED arrival was 10; 10 (48%) had a history of loss of consciousness, and 7 (33%) children were intubated pre-hospital or in the ED. Fourteen (67%) children underwent neurosurgery, two (10%) craniofacial surgery, and five (24%) were treated conservatively; four (19%) patients died. Conclusions: Paediatric pHIs are very rare in EDs in Australia and New Zealand but are associated with high morbidity and mortality. The absence of firearm-related injuries compared to North America is striking and may reflect Australian and New Zealand firearm regulations

Accuracy of NEXUS II head injury decision rule in children: A prospective PREDICT cohort study

© 2019 Author(s). Objective The National Emergency X-Radiography Utilisation Study II (NEXUS II) clinical decision rule (CDR) can be used to optimise the use of CT in children with head trauma. We set out to externally validate this CDR in a large cohort. Methods We performed a prospective observational study of patients age