Genomic signatures of adaptive introgression from European mouflon into domestic sheep

Mouflon (Ovis aries musimon) became extinct from mainland Europe after the Neolithic, but remnant populations from the Mediterranean islands of Corsica and Sardinia have been used for reintroductions across Europe since the 19th-century. Mouflon x sheep hybrids are larger-bodied than mouflon, potentially showing increased male reproductive success, but little is known about genomic levels of admixture, or about the adaptive significance of introgression between resident mouflon and local sheep breeds. Here we analysed Ovine medium-density SNP array genotypes of 92 mouflon from six geographic regions, along with data from 330 individuals of 16 domestic sheep breeds. We found lower levels of genetic diversity in mouflon than in domestic sheep, consistent with past bottlenecks in mouflon. Introgression signals were bidirectional and affected most mouflon and sheep populations, being strongest in one Sardinian mouflon population. Developing and using a novel approach to identify chromosomal regions with consistent introgression signals, we infer adaptive introgression from mouflon to domestic sheep related to immunity mechanisms, but not in the opposite direction. Further, we infer that Soay and Sarda sheep carry introgressed mouflon alleles involved in bitter taste perception and/or innate immunity. Our results illustrate the potential for adaptive introgression even among recently diverged populations

Cotard’s Syndrome: Clinical Case Presentation and Literature Review

In 1880 French neurologist Jules Cotard described a condition characterized by delusion of negation (nihilistic delusion) in a melancholia context. Recently, there has been a resurgence of interest in Cotard’s syndrome. The most prominent symptoms of Cotard’s Syndrome are depressive mood, nihilistic delusions concerning one’s own body and one’s own existence, delusions of guilt, immortality and hypochondria. The aim of the present paper is to review literature evidences concerning Cotard’s syndrome and to describe a clinical case keeping in the background the recent trends on its psychopathological implications. In the clinical study, the following sequence of stages emerged: the dissociative side, expressed as a loss of body-mind cohesion; the ‘mixed’ mood disorder, with depressive-manic episodes, and a persecutory background, all coexisting in the anguish of the idea of a body falling apart, the anguish of a descent towards the abyss of melancholia and/or an ascent to unlimited euphoria, characteristic of an “uncommon alarm” for loss of Self cohesion

The role of melatonin in mood disorders

Melatonin (N-acetyl-5-methoxytryptamine) has been discovered as a hormone secreted by the pineal gland, even though it is also synthetized in various other organs, tissues, and cells. The circadian rhythm of melatonin is often used as an indicator phase position since it is a well-defined, high-amplitude rhythm controlled by the hypothalamic suprachiasmatic nuclei. Melatonin production is controlled by this endogenous circadian timing system. It peaks during the night and is suppressed by daylight. Mood spectrum disorders, including bipolar disorder (BD), major depressive disorder (MDD), and seasonal affective disorder (SAD), have been observed to be accompanied by circadian dysregulation as well as dysregulation in melatonin secretion. Simultaneously, it has also been documented that disruptions in circadian rhythms, including the sleep/wake cycle, though environmental means can produce mood-related problems in vulnerable individuals. These findings suggested that altered circadian rhythms might be biological markers of these disorders. As melatonin is considered a chronobiotic factor, ie, able to entrain the circadian rhythms of several biological functions (eg, activity/rest, sleep/wake, body temperature, endocrine rhythms, etc), its use may provide a new therapeutic approach for the treatment of affective disorders. However, the available evidence is controversial. This review summarizes the data published so far about reliable evidence on the role of melatonin in affective disorder

An Innovative Approach to Development of Social Abilities in Individuals with Autism: A Pilot Study

Recent evidence suggests that individuals with Autism Spectrum Disorders (ASD) show a significant impairment in social abilities. There are no treatments that have demonstrated evidence of being effective at improving social skills and promoting independence. The transition to adulthood, which often involves loss of school support and child and adolescent mental health services, is a challenge in the rehabilitation field. Our pilot study is the first that describes a novel approach to involving young adults with ASD in metacognitive exercise focused on social cognition. In treatment proposed, participants with ASD help each other to create software aimed at improving children with ASD's understanding of emotions. Our results showed an qualitative and quantitative improvement of their cognitive empathic abilities, as witnessed by parents and of the post- treatment assessment. This pilot study highlights the importance to help individuals with ASD to fulfil their potential in areas of strength

The Relationship between Compulsive Behaviour and Internet Addiction

A variety of behavioural and emotional problems among university students is due to Internet Addiction (Alavi et al. 2012, Rusconi et al. 2012). In 2013 a survey is conducted on a sample of 532 students of University of L’Aquila. The purpose is to investigate Internet use patterns and the correlation between Internet Addiction disorder and compulsive behaviour. Two self-administered questionnaires are used: the Internet Addiction Test and the Cognitive Behavioural Assessment 2.0. 517 students show signs of Internet Addiction, which is moderate for 31% of respondents and severe for 1% of them. 5% shows intrusive thoughts and compulsive behaviours. The symptoms of obsessive-compulsive disorder are statistically associated with Internet Addiction (chi² test=23.53, p=0.000). Among young people there is a relationship between compulsive behaviour and Internet Addiction. This relationship has significant effects on treatment of Internet Addiction

Simple mindreading abilities predict complex theory of mind: developmental delay in autism spectrum disorders

Theory of Mind (ToM) is impaired in individuals with Autism Spectrum Disorders (ASD). The aims of this study were to: i) examine the developmental trajectories of ToM abilities in two different mentalizing tasks in children with ASD compared to TD children; and ii) to assess if a ToM simple test known as Eyes-test could predict performance on the more advanced ToM task, i.e. Comic Strip test. Based on a sample of 37 children with ASD and 55 TD children, our results revealed slower development at varying rates in all ToM measures in children with ASD, with delayed onset compared to TD children. These results could stimulate new treatments for social abilities, which would lessen the social deficit in ASD

Stem-Skilled Parents and Autism Spectrum Disorder in Offspring: A Case-Control Study

Autism spectrum disorder (ASD) is a neurodevelopment disorder characterised by a range of deficits in two specific domains: social communication and social interaction and repetitive patterns of behaviour. Several studies have explored the link between ASD and STEM (science, technology, engineering and mathematics, or other mathematics-grounded disciplines), but results are still uncertain. Objective of the study was to estimate the potential role of systemising abilities in parents as a risk factor for ASD in the offspring, using the achievement of a degree in STEM disciplines as a proxy characteristic of the exposure. There were 1,316 participants overall. There were 658 incident consecutive cases of definite ASD, diagnosed in a Reference Centre for ASD in Italy, from 2001 to 2020. The main exposure variable was parental education level. The risk of ASD in the offspring associated with the main exposure variable and the exposure covariates (e.g. use of neurotropic drugs during the first trimester of the mother’s pregnancy, perinatal outcomes of participants and/or preterm birth) was studied by using conditional logistic regression analysis. In addition, we carried out a mediation analysis to investigate whether and the extent to which covariates significantly associated with ASD risk mediate the relationship between parental education level and ASD in offspring. A STEM degree in parents was significantly associated with risk of ASD in offspring (OR 1.43, 95% CI 1.03-2.54). Familiarity was weakly associated with the risk of ASD (OR 1.33, 95% CI 1.00-1.66) and is the stronger mediator (PME 28%). Sensitivity analysis did not show deviations related to gender or ASD level. Our study moves in the direction of confirming the risk of occurrence of ASD in the offspring of parents with elevated systemising abilities