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This paper presents the case for how students can be helped to increase their scientific vocation by experimental work and the introduction of particle physics into pre-university studies. These two ideas are the two main lines of work of the ADMIRA initiative, which has been created by individuals belonging to different and complementary educational and research institutions. The initiative consists of a network of schools that share Minipix devices, a readout system for the Timepix detector designed at CERN in the framework of the Medipix2 Collaboration. The schools receive logistical and technical support from the local University (the University of Barcelona) and from CERN. The centres involved and the objectives, as well as the characteristics of the project are presented. The technical and didactic materials available are also shown. Finally, some initiative data has been analysed to show its rapid growth, and some students' research is presented showing the diversity of tasks that can be done with such detectors.

GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we present the first non-randomized, open-label, single-arm trial (NCT04646447) designed to evaluate the tolerability and efficacy of L-serine in children with GRIN genetic variants leading to loss-of-function. In this phase 2A trial, patients aged 2-18 years with GRIN loss-of-function pathogenic variants received L-serine for 52 weeks. Primary end points included safety and efficacy by measuring changes in the Vineland Adaptive Behavior Scales, Bayley Scales, age-appropriate Wechsler Scales, Gross Motor Function-88, Sleep Disturbance Scale for Children, Pediatric Quality of Life Inventory, Child Behavior Checklist and the Caregiver-Teacher Report Form following 12 months of treatment. Secondary outcomes included seizure frequency and intensity reduction and EEG improvement. Assessments were performed 3 months and 1 day before starting treatment and 1, 3, 6 and 12 months after beginning the supplement. Twenty-four participants were enrolled (13 males/11 females, mean age 9.8 years, SD 4.8), 23 of whom completed the study. Patients had GRIN2B, GRIN1 and GRIN2A variants (12, 6 and 5 cases, respectively). Their clinical phenotypes showed 91% had intellectual disability (61% severe), 83% had behavioural problems, 78% had movement disorders and 58% had epilepsy. Based on the Vineland Adaptive Behavior Composite standard scores, nine children were classified as mildly impaired (cut-off score > 55), whereas 14 were assigned to the clinically severe group. An improvement was detected in the Daily Living Skills domain (P = 0035) from the Vineland Scales within the mild group. Expressive (P = 0.005), Personal (P = 0.003), Community (P = 0.009), Interpersonal (P = 0.005) and Fine Motor (P = 0.031) subdomains improved for the whole cohort, although improvement was mostly found in the mild group. The Growth Scale Values in the Cognitive subdomain of the Bayley-III Scale showed a significant improvement in the severe group (P = 0.016), with a mean increase of 21.6 points. L-serine treatment was associated with significant improvement in the median Gross Motor Function-88 total score (P = 0.002) and the mean Pediatric Quality of Life total score (P = 0.00068), regardless of severity. L-serine normalized the EEG pattern in five children and the frequency of seizures in one clinically affected child. One patient discontinued treatment due to irritability and insomnia. The trial provides evidence that L-serine is a safe treatment for children with GRIN loss-of-function variants, having the potential to improve adaptive behaviour, motor function and quality of life, with a better response to the treatment in mild phenotypes., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Policies aiming to prevent environmental deterioration are gaining attention. To mitigate the detrimental effects of household waste in the form of packaging and single-use containers, diverse mechanisms to enhance recycling have been implemented in many countries. This paper studies citizenship perception and expected behaviour in the face of a potential implementation of a packaging Deposit and Refund System (DRS) in Catalonia. Based on previous qualitative research, it reports and analyses the results of two surveys: a telephone and an online survey, aimed at capturing citizens' evaluation and expected changes of behaviour under the proposed waste collection system. The evaluation of the DRS obtained in the two surveys is substantially different. The DRS features are more positively perceived in the telephone survey than in the online survey and willingness to adopt the system is also higher in the telephone survey. Factors contributing to these differential evaluations are the amount and form of the information provided by the two surveys. These results are indicative of substantial effects that the use of different means of assessment of waste collection mechanisms can have on their perceived and reported desirability by consumers. Our research contributes with a novel quantitative analysis of consumers' attitudes towards implementing a DRS and adds to the literature on factors that may cause the evaluation of waste management alternatives to generate different results. Findings are relevant for the analysis of waste collection alternatives and to develop improved communication campaigns to promote new schemes to mitigate the environmental impact of waste., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2021 Elsevier B.V. All rights reserved.)

The lipid molecule ceramide is transported from the endoplasmic reticulum to the Golgi apparatus for sphingomyelin production via the ceramide transport protein (CERT), encoded by CERT1. Hyperphosphorylation of CERT's serine-repeat motif (SRM) decreases its functionality. Some forms of inherited intellectual disability (ID) have been associated with a serine-to-leucine substitution in the SRM (S132L mutation) and a glycine-to-arginine substitution outside the SRM (G243R mutation) in CERT; however, it is unclear if mutations outside the SRM disrupt the control of CERT functionality. In the current investigation, we identified a new CERT1 variant (dupAA) in a patient with mild ID that resulted from a frameshift at the C-terminus of CERT1. However, familial analysis revealed that the dupAA variant was not associated with ID, allowing us to utilize it as a disease-matched negative control for CERT1 variants that are associated with ID. Biochemical analysis showed that G243R and S132L, but not dupAA, impair SRM hyperphosphorylation and render the CERT variants excessively active. Additionally, both S132L and G243R mutations but not dupAA caused the proteins to be distributed in a punctate subcellular manner. On the basis of these findings, we infer that the majority of ID-associated CERT variants may impair SRM phosphorylation-dependent repression, resulting in an increase in sphingomyelin production concurrent with CERT subcellular redistribution., Competing Interests: Conflict of interest The authors declare that they have no conflicts of interest with the contents of this article., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)

Shifting to plant-based and low-carbon diets is a key measure for climate change mitigation. In this regard, national and local governments are setting goals and actions to tackle this issue. The municipality of Barcelona has set an intervention for the academic year 2020-21: introducing low-carbon meals in public schools. This study assesses the environmental and nutritional benefits of this intervention by applying the Life Cycle Assessment (LCA) methodology, with an energy and nutritional functional unit; and combined it with the Water-Energy-Food (WEF) nexus approach, by considering three WEF resources-based impacts (Blue Water Footprint (BWF), Primary Energy Demand (PED) and Land Use (LU)) and the Global Warming Potential (GWP). The transition to a low-carbon meal would reduce between 46 and 60% the environmental impacts. These benefits could even be higher when extra interventions within the school boundaries are applied. More research in behavioural change is needed in order to evaluate both: the acceptance of the new menus by scholars and the adaptation of the school kitchen staff to the new menu. Finally, it is suggested to monitor the environmental and nutritional changes of the introduction of low-carbon meals within the school menus in an integrated way., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Introduction: Traumatic brain injury (TBI) is a common cause of death and disability in the paediatric population, although the literature on the Spanish population is scarce. From the perspective of early vulnerability, recent research findings suggest that early brain injury has worse sequelae and a higher risk of impact., Aims: To analyse the intelligence profile, executive functions and behaviour, and examine the association between age at the time of the injury, severity of the TBI and environmental factors for cognitive and behavioural outcomes., Patients and Methods: Seventy-one participants with moderate to severe TBI, from 6 to 16 years of age, were assessed with measures of intelligence (intelligence quotient), executive functions and behaviour., Results: Children with TBI are at increased risk of disability in all aspects of intelligence, executive functions and behaviour. Children who suffered a traumatic brain injury in infancy and the preschool period had more overall effects on intelligence quotient and some aspects of the executive functions., Conclusions: Socioeconomic and cultural factors are the best predictors for intelligence quotient and behaviour. These findings contribute to a better understanding of the sequelae of TBI in children, which will help in rehabilitation planning and re-adaptation to functional life.

Annually, around 7.7 billion passengers travel by plane. The menus served during the flight are quite similar between different airlines and are composed of the food itself, packaging (paper envelopes, film, etc.) and tableware (mainly trays, plates, glasses, cups and cutlery). In 2016, 1522 tonnes of tourist class menus were served in Iberia aircrafts landing at Madrid Barajas airport in Spain. From this amount, 51% by weight was packaging and tableware, and the remaining 49% food. As changes in the food has little room for maneuver, since the same amount would be delivered regardless how it is served, this study focus on the possibilities of packaging and tableware to reduce GHG emissions. The assessment has been done using life cycle assessment methodology (LCA) in order to identify the hotspots along the whole life cycle of packaging and tableware items. The case study chosen was the catering service of Iberia, the national airline of Spain. The functional unit used was "the service of 1,000 tourist class menus on Iberia flights that landed in Madrid in 2016". The results show that the impacts of reusable and single use items take place at different stages of their life cycles. For reusable ones, 76% of the impact is produced during the flight phase, meanwhile, for single use ones, 53% of the impact comes from the production stage. Variables such as material, weight and the number of reuses can greatly influence greenhouse gas (GHG) emissions. From the results of the analysis some eco-design strategies has been proposed and analysed. The paper reveals that the lighter single-use packaging and tableware for airline catering are less harmful under a life cycle perspective become., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction. Here we analyzed the expression of brain-derived neurotrophic factor (BDNF) and 10 genes required for correct brain functioning in plasma and blood of patients with Urea Cycle Disorders (UCD), Maple Syrup Urine Disease (MSUD) and controls. Receiver-operating characteristic (ROC) analysis was used to evaluate sensitivity and specificity of potential biomarkers. CACNA2D2 (α2δ2 subunit of voltage-gated calcium channels) and MECP2 (methyl-CpG binding protein 2) mRNA and protein showed an excellent neural function biomarker signature (AUC ≥ 0,925) for recognition of MSUD. THBS3 (thrombospondin 3) mRNA and AABA gave a very good biomarker signature (AUC 0,911) for executive-attention deficits. THBS3, LIN28A mRNA, and alanine showed a perfect biomarker signature (AUC 1) for behavioral and mood disorders. Finally, a panel of BDNF protein and at least two large neural AAs showed a perfect biomarker signature (AUC 1) for recognition of psychomotor delay, pointing to excessive protein restriction as central causative of psychomotor delay. To conclude, our study has identified promising biomarker panels for neural function evaluation, providing a base for future studies with larger samples.

Introduction: Phenylketonuria (PKU) is a rare metabolic disease that causes slight-to-severe neurological symptoms. Slow performance has been observed in PKU but the influence of high-order (i.e., not purely motor) deficits and of temporary variations of the phenylalanine (Phe) level on this slowness has not been fully corroborated as yet. Response speed and the effect of motor practice during the performance of a visuomotor coordination task were measured, in a group of patients with early-treated phenylketonuria (ET PKU)., Method: We compared the performance of a group of early-treated PKU patients with ages ranging from 11 to 25 years and a control group of healthy volunteers on a computerized visuomotor task. Participants performed rapid movements towards one of five response buttons, as indicated by a visual stimulus that could appear in five different positions on a computer screen. The results of our visuomotor task were correlated with neurobiological data (Phe levels) and with neuropsychological measures of motor (finger tapping) and executive functions (Stroop task)., Results: The ET PKU group showed slower responses than the control group. Furthermore, an absence of a practice effect (i.e., faster response times at the end of the study) was found in the PKU group but not in the control group. Our results also revealed that this absence of practice effect correlated with higher Phe levels on the testing day with respect to the average Phe level of the previous 12 months and, although weakly, with performance on the Stroop task., Conclusions: This pattern of results indicates slower visuomotor performance and a less beneficial effect of practice in ET PKU. The correlations found among our visuomotor measures, the same-day Phe level, and the Stroop test may reflect the negative effects of dopamine reduction in brain areas involved in motor control, selective attention, and learning.

INTRODUCTION. Phenylketonuria (PKU) is an autosomal recessive metabolic disease caused by a deficiency of phenylalanine hydroxylase. The dietary therapy for the effective management of PKU, in particular the restriction of high-protein foods of animal-origin, compromises patients' intake of fat and distorts the n-3:n-6 ratio of essential fatty acids in the diet. This deficiency can contribute to neurological and visual impairment. AIM. To evaluate changes in white matter alterations, visual evoked potential (VEP) latencies and performance in executive and motor functions in a group of early and continuously treated PKU patients after supplementation with docosahexaneoic acid (DHA). PATIENTS AND METHODS. We selected 21 PKU patients with early diagnosis (age range: 9-25 years), on a Phe-restricted diet and supplemented with PKU formula. Inclusion criteria were: low erythrocyte DHA values, prolonged P100 wave latencies in VEP and/or presence of white matter hyperintensities on brain magnetic resonance imaging (MRI), and intellectual quotient > 80. All patients were treated with DHA (10 mg/kg/day) for 12 months. Assessment was conducted at baseline and after 12 months of treatment, and included biochemical parameters, brain MRI, VEP, ophthalmologic evaluation and neuropsychological tests. RESULTS AND CONCLUSION. All the patients normalized the DHA levels after supplementation. Improvement in the P100 wave latencies, and fine motor skills was significant. No significant improvement in the other explorations was evident after supplementation. Further investigations seem advisable to establish a cause-effect relationship between DHA treatment and the slight improvement observed in some neurological functions.

Introduction: During the last years, International adoption has increased significantly in our country over the last few years. China, Russia, Colombia and Ethiopia represent 77% of international adoptions in Spain. Cognitive and behavioural aspects are very important for an adequate social, family and school integration of these children., Objective: To describe the neuropsychological profiles of a group of internationally adopted children in Catalonia from China, Russia, Colombia and Ethiopia., Patients and Methods: Neuropsychological examination of 49 children from international adoption (6 of Chinese origin, 24 from Russia, 13 from Colombia and 6 of Ethiopian origin)., Results: The group of Chinese origin obtained average scores of all functions evaluated. The Russian origin group was below the average for, selective attention, phonetic verbal fluency, control of impulsivity, mechanics and reading comprehension, and spelling. Scores on the impulse control in the Colombian origin group were below average. The group of Ethiopian origin obtained average scores in all functions evaluated except for spelling difficulties., Conclusion: Children adopted from Russia have greater neuropsychological difficulties than the others. Most pre-adoption history is unknown; therefore we are unable to determine the origin of these difficulties. Maternal alcohol consumption during pregnancy and the institutional environment could be influencing factors in neuropsychological delay. Inclusion of neuropsychological assessment in health protocols for these children is recommended if they develop suggestive signs of cognitive and/or behavioral impairment., (Copyright © 2011 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Introduction: The developmental amnesia is a recently known entity that occurs as a consequence of hypoxic-ischemic events in the perinatal period. This is a specific deficit of episodic memory with greater preservation of semantic memory and other memory components such as the immediate and working memory. It occurs in patients without apparent neurological sequelae, with normal psychomotor development and general intelligence. The developmental amnesia has been associated with bilateral involvement of the hippocampus, which is evident in some cases on magnetic resonance imaging (MRI) as signal disturbance and signs of atrophy, or reduced size of the hippocampus in brain volumetric studies., Patients and Methods: We present six observations of developmental amnesia, their clinical, neuropsychological and neuroimaging findings., Results: All of them show impaired episodic memory with preservation of semantic memory, have a normal general intelligence and follow a regular school with special educational needs., Conclusions: It is necessary to keep in mind this entity in monitoring risk newborns by their perinatal history and include the exploration of memory in neuropsychological study of these subjects. On the other hand, we highlight the specificity of the clinical and neuropsychological profile for the diagnosis of developmental amnesia even in the absence of hippocampal lesions on conventional MRI.

Aim: We sought to describe the epidemiological and clinical data from our patients in the Pediatric Epilepsy Monitoring Unit (PEMU) of the Sant Joan de Deu Hospital of Barcelona, and determine the variables of risk for mental retardation., Patients and Methods: A retrospective review of PEMU reports and hospital discharge summaries from March 2005 to December 2008 was conducted. The data from patients with intelligence quotient (IQ) estimated, older than 3 years of age and with epileptic electroencephalography (EEG) activity was analyzed in 158 patients (8.8 +/- 5.2 years; 55.1% boys). Of those pediatric patients, 63 had IQ less than 70 and 47 an IQ greater than or equal to 70. Intractable epilepsy was present in all of them., Results: The percentage of the patients with mental retardation is significantly higher in patients with onset of epilepsy before 24 months (68.3%) than patients with later onset (27.7%). Onset of seizures, EEG findings and epilepsy etiology are significant risk factors for mental retardation., Conclusions: Early age at seizure, multifocal epilepsy and cryptogenic etiology are factors of worse prognosis to normal development of cognitive functions in pediatric intractable epilepsy.

Introduction and Development: Acquired brain injury is one of the most common causes of long-term disability in childhood and traumatisms are the most prevalent cause. Diffuse axonal injury is associated with poor neuropsychological outcome. In contrast to early focal lesions, young age confers no advantage in the outcome of severe diffuse brain injury. Plasticity is incomplete for structural and functional deficits in children. The traditional view of enhanced reorganization of function after localized brain injury it can't be applied in early severe diffuse brain injury. In the paediatric population where the central nervous system is in a rapid state of growth, developmental factors may mask the difficulties and deficits in certain skills may not be evident until that skill is expected to emerge at a certain age., Conclusion: Like in adults the neuropsychological domains more affected in childhood are psychomotor speed, memory, attention and executive functioning. In childhood neuropsychological deficits will affect learning and adaptive behaviour. Sometimes deficits will be cumulative over time.

Introduction and Development: Non verbal learning disorder is a neurological condition which is considered to be a developmental disability. It is characterised by a specific dysfunction in motor, visuospatial and social skills in patients with a normal intellect and development of language. Warning signs in school are poor psychomotor coordination, arithmetic skills and drawing activities. Social judgment and social problem solving are also typically impaired. Furthermore, these patients seem to have increasing risk of emotional disorders., Conclusions: Current evidence and theories suggest that dysfunction of white matter in the right hemisphere could be the cause. The clinical characteristics and the diagnostic criteria have not fully agreed on. A comprehensive neuropsychological evaluation reveals specific and heterogeneous patterns of difficulties for each child that would make possible to address and accommodate an educational program.

Introduction: Cerebellum traditionally has been considered as a neural structure dedicated to motor control. Published studies in the last decades suggest that the cerebellum has an important role in behaviour and cognition specially in paediatric age., Objective: We review the cerebellum role in cognitive function in developmental and acquired cerebellar pathology.