Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.

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.

Evaluating the implementation of a packaging Deposit and Refund System in Catalonia. Two surveys on citizenship's expected behaviour.

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.

An explorative assessment of environmental and nutritional benefits of introducing low-carbon meals to Barcelona schools.

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.

[Prognostic factors and profile in traumatic brain injury in the paediatric age].

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.

Is the reusable tableware the best option? Analysis of the aviation catering sector with a life cycle approach.

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.

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.

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.

Efficacy of a new parent and school-supported intervention after moderate and severe childhood traumatic brain injury.

Introduction: Traumatic brain injury is a common cause of acquired disability during childhood. Early interventions focusing on parenting practices may prove effective at reducing negative child outcomes.

Aim: To determine the efficacy of a new counselling program aimed at parents and schools compared to a control group.

[Neurological, neuropsychological, and ophthalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients].

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.

[Developmental amnesia as a focal cognitive sequela of a neonatal pathology].

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.

[Neuropsychological profile of internationally adopted children in Catalonia].

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.

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.

Fragile X syndrome (FXS) is a neurodevelopmental disorder and a leading monogenic form of cognitive impairment and autism. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. It is caused by the instability and subsequent expansion of the CGG repeat in the promoter region of the FMR1 (fragile X mental retardation 1) gene at Xq27.

[Predictive variables for mental retardation in a Pediatric Epilepsy Monitoring Unit. Neuropsychological assessment].

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.

[Non-verbal learning disorder: cognitive-behavioural characteristics and neuropsychological aspects].

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.

[Neuropsychological aspects of acquired diffuse brain injury in paediatric childhood].

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.

Cognitive functions and the antioxidant system in phenylketonuric patients.

The authors studied the relationship between the antioxidant system and cognitive functions in a group of 36 early and continuously treated phenylketonuric (PKU) patients (mean age=9.7 years) and 29 controls. The authors measured antioxidant cofactors and free radical damage markers in plasma (selenium, retinol, tocopherol, coenzyme Q10, malondialdehide) and antioxidant enzymes in red blood cells (glutathione peroxidase, catalase, superoxide dismutase).

[The contribution of the cerebellum to cognitive function in childhood].

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.