The emerging role of the inwardly rectifying K+ channels in autism spectrum disorders and epilepsy

Autism is a complex behavioral disorder that develops prior to age three years and is distinguished by high heritability. Many genes predisposing to autism spectrum disorders (ASDs) have been identified. These findings have demonstrated that ASDs are etiologically heterogeneous; although, the mutations underlying ASDs are identifiable only in a minority of patients. Indeed, the causes of ASDs are unknown in more than 70% of patients. Recently, we have described two unrelated families whose affected individuals display a characteristic triad of symptoms of autism; such as impairments in social interaction, impairments in communication, restricted interests and repetitive behavior. They also displayed other symptoms commonly observed in autistic individuals; such as gait imbalance, clumsiness, mental retardation and epilepsy. The genetic analysis of these families resulted in the identification of new heterozygous point mutations in the KCNJ10 gene that encodes the inwardly-rectifying K+ channel Kir4.1 expressed predominantly, but not exclusively, in astrocytes. Functionally, the mutated channels exhibited a phenotype consistent with gain-of-function defects. These new findings highlight the emerging role of inwardly-rectifying K+ channels and astrocyte dysfunction in autism spectrum disorders associated with epilepsy.peer-reviewe

Benefits of Exercise with Mini Tennis in Intellectual Disabilities: Effects on Body Image and Psychopathology

The present study is aimed at evaluating the efficacy of an introductory mini tennis programme as a therapeutic aid in the psychosocial rehabilitation of participants affected by mild/moderate intellectual disability in semi-residential care

Arginine : glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease

Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation. In contrast with his 2 older sisters, he had normal psychomotor development at 18 months

Quality of life in carotid atherosclerosis: The role of co-morbid mood disorders

Introduction/Objective: To study in severe carotid atherosclerosis (CA): The frequency of mood disorders (MD); the impairment of quality of life (QoL); the role of co-morbid MD in such impairment. Methods: Case-control study. Cases: consecutive in-patients with CA (stenosis ≥ 50%). Controls: subjects with no diagnosis of CA randomized from a database of a community survey. Psychiatric diagnosis according to DSM-IV made by clinicians and semi-structured interview, QoL measured by the Short Form Health Survey (SF-12). Results: This is the first study on comorbidity on CA disease and MD in which psychiatric diagnoses are conducted by clinicians according to DSM-IV diagnostic criteria. Major Depressive Disorder (MDD) (17.4% vs 2.72%, P <0.0001) but not Bipolar Disorders (BD) (4.3% vs 0.5%, P = 0.99) was higher in cases (N=46) than in controls (N= 184). SF-12 scores in cases were lower than in controls (30.56±8.12 vs 36.81±6:40; p <0.001) with QoL comparable to serious chronic diseases of the central nervous system. The burden of a concomitant MDD or BD amplifies QoL impairment. Conclusion: Comorbid MD aggravates the impairment of QoL in CA. Unlike autoimmune diseases or degenerative diseases of the Central Nervous System, CA shows a strong risk of MDD than BD

Chemical analysis and computed tomography of metallic inclusions in Roman glass to unveil ancient coloring methods

This paper describes the analysis of two near-spherical metallic inclusions partially incorporated within two Roman raw glass slags in order to elucidate the process that induced their formation and to determine whether their presence was related to ancient glass colouring processes. The theory of metallic scraps or powder being used in Roman times for glass-making and colouring purposes is widely accepted by the archaeological scientific community, although the assumption has been mainly based on oral traditions and documented medieval practices of glass processing. The analysis of the two inclusions, carried out by X-ray computed tomography, electrochemical analyses, and scanning electron microscopy, revealed their material composition, corrosion and internal structure. Results indicate that the two metallic bodies originated when, during the melting phase of glass, metal scraps were added to colour the material: the colloidal metal–glass system reached then a supersaturation condition and the latter ultimately induced metal expulsion and agglomeration. According to the authors’ knowledge, these two inclusions represent the first documented and studied finds directly associated with the ancient practise of adding metallic agents to colour glass, and their analysis provides clear insights into the use of metallic waste in the glass colouring process.This paper describes the analysis of two near-spherical metallic inclusions partially incorporated within two Roman raw glass slags in order to elucidate the process that induced their formation and to determine whether their presence was related to ancient glass colouring processes. The theory of metallic scraps or powder being used in Roman times for glass-making and colouring purposes is widely accepted by the archaeological scientific community, although the assumption has been mainly based on oral traditions and documented medieval practices of glass processing. The analysis of the two inclusions, carried out by X-ray computed tomography, electrochemical analyses, and scanning electron microscopy, revealed their material composition, corrosion and internal structure. Results indicate that the two metallic bodies originated when, during the melting phase of glass, metal scraps were added to colour the material: the colloidal metal-glass system reached then a supersaturation condition and the latter ultimately induced metal expulsion and agglomeration. According to the authors' knowledge, these two inclusions represent the first documented and studied finds directly associated with the ancient practise of adding metallic agents to colour glass, and their analysis provides clear insights into the use of metallic waste in the glass colouring process

Enhancing the emotional and social skills of the youth to promote their wellbeing and positive development: a systematic review of universal school-based randomized controlled trials

Background: The acquisition of social and emotional skills is associated with positive youth development, character education, healthy lifestyle behaviours, reduction in depression and anxiety, conduct disorders, violence, bullying, conflict, and anger. School-based interventions aimed to enhance these skills go beyond a problem-focused approach to embrace a more positive view of health; they could also improve the youth's wellbeing. Aim: To describe the main features and to establish the effectiveness of universal school-based RCTs for children and the youth, aimed to promote their psychosocial wellbeing, positive development, healthy lifestyle behaviours and/or academic performance by improving their emotional and social skills. Methods: Systematic review by searching for relevant papers in PubMed/Medline with the following key words: "mental health" OR "wellbeing" OR "health promotion" OR "emotional learning" OR "social learning" OR "emotional and social learning" OR "positive youth development" OR "life skills" OR "life skills training" AND "school". Interval was set from January 2000 to April 2014. Results: 1,984 papers were identified through the search. Out of them 22 RCTs were included. While most interventions were characterized by a whole-school approach and SAFE practices, few studies only used standardized measures to assess outcomes, or had collected follow-up data after ≥ 6 months. The results of all these trials were examined and discussed. Conclusion: Universal school-based RCTs to enhance emotional and social skills showed controversial findings, due to some methodological issues mainly. Nevertheless they show promising outcomes that are relatively far-reaching for children and youth wellbeing and therefore are important in the real worl

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We present the clinical, molecular and neuroimaging features of an Italian boy who had delayed developmental milestones with mild limb-girdle muscle involvement, bilateral frontotemporal polymicrogyria, moderate intellectual disability, and no cerebellar involvement. He also presented a cochlear dysplasia and harbored a reported mutation (p.A47Rfs*42) in TMEM5, detected using targeted next-generation sequencing. The relatively milder muscular phenotype and associated structural brain abnormalities distinguish this case from previously reported patients with severe dystroglycanopathies and expand the spectrum of TMEM5-associated disorders