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Background More than 100 X-linked intellectual disability (X-LID) genes have been identified to be involved in 10–15% of intellectual disability (ID). Method To identify novel possible candidates, we selected 18 families with a male proband affected by isolated or syndromic ID. Pedigree and/or clinical presentation suggested an X-LID disorder. After exclusion of known genetic diseases, we identified seven cases whose mother showed a skewed X-inactivation (>80%) that underwent whole exome sequencing (WES, 50X average depth). Results WES allowed to solve the genetic basis in four cases, two of which (Coffin-Lowry syndrome, RPS6K3 gene; ATRX syndrome, ATRX gene) had been missed by previous clinical/genetics tests. One further ATRX case showed a complex phenotype including pontocerebellar atrophy (PCA), possibly associated to an unidentified PCA gene mutation. In a case with suspected Lujan-Fryns syndrome, a c.649C>T (p.Pro217Ser) MECP2 missense change was identified, likely explaining the neurological impairment, but not the marfanoid features, which were possibly associated to the p.Thr1020Ala variant in fibrillin 1. Finally, a c.707T>G variant (p.Phe236Cys) in the DMD gene was identified in a patient retrospectively recognized to be affected by Becker muscular dystrophy (BMD, OMIM 300376). Conclusion Overall, our data show that WES may give hints to solve complex ID phenotypes with a likely X-linked transmission, and that a significant proportion of these orphan conditions might result from concomitant mutations affecting different clinically associated genes. [ABSTRACT FROM AUTHOR]

Several studies have revealed a common high prevalence of educational neuromyths among teachers from different countries. However, only one intervention aimed at reducing these beliefs among in-service teachers has been reported to date, and it was conducted in a non-naturalistic setting. In the present study, we administered a survey to measure the prevalence of common neuromyths in a large sample (n = 807) of primary and secondary teachers from 203 schools across Catalonia (Spain), and then we evaluated the impact that a 15-hour online course on neuroscience had on a sample of them as compared to a control group. Results showed an initial distribution of neuromyth beliefs similar to those of previous studies and a large effect of the intervention on reducing their prevalence shortly after the training and in the long term. These findings provide evidence that an intervention addressed to in-service teachers that is low-cost and easy to implement can cast corrective effects that persist over time in neuromyth beliefs. [ABSTRACT FROM AUTHOR]

Since Gardner suggested that human beings hold multiple intelligences, numerous teachers have adapted and incorporated the multiple intelligence theory (MIT) into their daily routine in the classroom. However, to date, the efficacy of MIT–inspired methodologies remains unclear. The focus of the present study was to perform a systematic review and a meta–analysis to assess the impact of these interventions on academic achievement through reading, maths, or science tests. The inclusion criteria for the review required that studies should estimate quantitatively the impact of an MIT–based intervention on the academic performance and that they followed a pre–post design with a control group. The final sample included 39 articles comprising data from 3009 pre-school to high school students, with diverse levels of achievement, from 14 different countries. The results showed that the studies had important methodological flaws, like small sample sizes or lack of active control groups; they also reported insufficient information about key elements, such as the tools employed to measure the outcomes or the specific activities performed during training, and revealed signs of publication or reporting biases that impeded a valid evaluation of the efficacy of MIT applied in the classroom. The educational implications of these results are discussed. • A meta-analysis of the impact of MIT-inspired interventions on learning was performed. • The qualitative analysis showed that the primary studies have important methodological flaws. • The reported effect sizes were remarkably larger than the usual in education. • MIT-inspired interventions for enhancing academic achievement learning is not recommended. [ABSTRACT FROM AUTHOR]

Students who perform better academically are generally more accurate in assessing their performance. In other words, they are better calibrated, showing smaller discrepancy between their predicted and actual performance. Research into contextual variables related to performance has shown that students sitting position may be related to their performance in class. In the current study we attempted to bring several lines of research together and examine whether there are differences in academic performance, calibration, and confidence judgments among students who choose various sitting positions in the classroom. 130 college students (M = 21.52, SD = 1.59; 103 female) attending courses at the University of Jaen in Spain participated. Results revealed that students' calibration differed depending on their preferred sitting position. We found that students in middle rows were optimally calibrated, students in the front rows overestimated their performance, and those in the back rows tended to underestimate their performance. Furthermore, students in the front rows were the most confident in their estimates, whereas students in the middle and back rows were less confident, suggesting the manifestation of the Dunning-Kruger effect. Future directions for contextual variables contributing to students' optimal calibration are discussed. • Students who perform better academically are generally better calibrated. • Students' sitting position may be related to their performance in class. • Students' calibration differed depending on their preferred sitting position. • We show evidence of the Dunning-Kruger effect. [ABSTRACT FROM AUTHOR]

Introduction: Spinocerebellar Ataxia 38 (SCA38) is caused by ELOVL5 gene mutation, with significant reduction of serum docosahexaenoic acid (DHA) levels. DHA supplementation has been proven effective at short-term follow-up. In the present paper, we evaluated long-term safety and efficacy of 600 mg/day oral DHA in SCA38 by a 2-year open label extension study.Methods: Nine SCA38 patients underwent standardised clinical assessment at 62 (T1), 82 (T2) and 104 (T3) weeks, and compared to pre-treatment scores (T0). Brain 18-Fluorodeoxyglucose Positron Emission Tomography and electroneurography were performed at T0 and T3.Results: We found a significant maintenance of clinical symptom improvement at each follow-up time-point (p < 0.001) as compared to T0, a sustained increase of cerebellar metabolism at T3 as compared to T0 (p = 0.013), and no worsening of neurophysiological parameters. No side effect was recorded.Conclusions: Long-term DHA supplementation is an eligible treatment for SCA38. [ABSTRACT FROM AUTHOR]

Background context The most common adverse event after a lumbar puncture (LP) is a headache: In anaesthesiology, well studied is the protective effect of atraumatic spinal needles, and they are routinely used. However, this is less well known in diagnostic LP, and neurologists use atraumatic needles in less than 2% of times. Purpose The purpose of this study was to define the impact of needle type, atraumatic (Sprotte [S]) versus traumatic (Quincke [Q]) on postdural puncture headache (PDPH) incidence. Study design The study is based on a prospective, randomized, and simple-blinded clinical trial. Patient Sample Patients older than 14 years were scheduled for a diagnostic or therapeutic LP. Outcome Measures The outcome measure included the development of PDPH according to the International Headache Association criteria. Methods Patients fulfilling eligibility criteria were randomly allocated to one of two kinds of spinal needle: atraumatic or S-type or traumatic or Q-type. They were interviewed on days 2 and 7 about the development of PDPH. Results The incidence of PDPH was 22.43% with Q-type needle and 8.51% with S-type needle, p=.04. The duration of PDPH in patients in the S-type was 1 day or less, compared with a median of 4.14 days in the Q-type (p=.00). In the logistic regression model, the S-type needle together with the age of the patient were the only two statistically significant factors in the development of postlumbar puncture headache (PLPH), both of them being protective. Conclusions We found a lower incidence of PDPH with atraumatic needles, and it was statistically significant compared with the traumatic needles. Our study confirms the effectiveness of the atraumatic needles to prevent PDPH. [ABSTRACT FROM AUTHOR]