Behavioral aspects in children's brothers affected by Autism Spectrum Disorders

Introduction: Autistic Spectrum Disorder (ASD) is a permanent and complex disability arising within the first three years of life characterized by a socio-communicative disorder and by fixed interests and repetitive behaviors. The present pilot study aims to evaluate behavioral aspects in a small population of siblings of ASD children. Material and methods: Population: 5 school-aged children (2 males, 3 females) (mean age 9.235 ± 2.041) were enrolled, as siblings of ASD children, and for comparison, 12 healthy (7 males, 5 females) children (average age 9,528 ± 3,351). All subjects underwent evaluation of the behavioral with Child Behavior Checklist (CBCL) scale. Results: The two groups were statistically comparable by age (p = 0.86) and gender distribution (p = 0.87). From the behavioral point of view evaluated with the CBCL scale, siblings of ASD have a higher degree of overall problem (Total problems) compared to control children (p=0.003), in addition they have significantly higher scores in the subscales of behavior examined (Anxious/Depressed, Withdrawn, Somatic Complaints, Social, Thought, Attention, Delinquent, Aggressive) as well as a greater share of disturbances both internalizing (p=0.004) and externalizing (p = 0.007) (Table 1). Conclusions: The present preliminary data confirm the need for a global management of the entire family structure for the correct management of Autistic Disorders

ADDICTIONS SUBSTANCE FREE DURING LIFESPAN

The addictions substance free is an umbrella definition comprises internet addiction, sexual addiction, gambling pathological, workholism, videogames and computer addiction. Actually, the technological addictions is frequent in young adolescents. The term Digital Natives indicates the children born in an information system of learning and communication different from that of the generations previous. This temporal range was strongly characterized by growing presence of technological communication toolsin daily life. The effects of hyper-exposition to technological tools tend to create a relational virtuality without a body is born,therefore, already within the family ties and during adolescence he moved to the digital socialization network. The technological object it interacts between the adolescent and the world of peers and adults, becoming the facilitator object that as the psychotropic substance, it conveys new modes of communicatio

Analyzing the Potential Biological Determinants of Autism Spectrum Disorder: From Neuroinflammation to the Kynurenine Pathway

Autism Spectrum Disorder (ASD) etiopathogenesis is still unclear and no effective preventive and treatment measures have been identified. Research has focused on the potential role of neuroinflammation and the Kynurenine pathway; here we review the nature of these interactions. Pre-natal or neonatal infections would induce microglial activation, with secondary consequences on behavior, cognition and neurotransmitter networks. Peripherally, higher levels of pro-inflammatory cytokines and anti-brain antibodies have been identified. Increased frequency of autoimmune diseases, allergies, and recurring infections have been demonstrated both in autistic patients and in their relatives. Genetic studies have also identified some important polymorphisms in chromosome loci related to the human leukocyte antigen (HLA) system. The persistence of immune-inflammatory deregulation would lead to mitochondrial dysfunction and oxidative stress, creating a self-sustaining cytotoxic loop. Chronic inflammation activates the Kynurenine pathway with an increase in neurotoxic metabolites and excitotoxicity, causing long-term changes in the glutamatergic system, trophic support and synaptic function. Furthermore, overactivation of the Kynurenine branch induces depletion of melatonin and serotonin, worsening ASD symptoms. Thus, in genetically predisposed subjects, aberrant neurodevelopment may derive from a complex interplay between inflammatory processes, mitochondrial dysfunction, oxidative stress and Kynurenine pathway overexpression. To validate this hypothesis a new translational research approach is necessary

Agomelatine: A Potential Multitarget Compound for Neurodevelopmental Disorders

Agomelatine (AGM) is one of the latest atypical antidepressants, prescribed exclusively for the treatment of depression in adults. AGM belongs to the pharmaceutical class of melatonin agonist and selective serotonin antagonist ("MASS"), as it acts both as a selective agonist of melatonin receptors MT1 and MT2, and as a selective antagonist of 5-HT2C/5-HT2B receptors. AGM is involved in the resynchronization of interrupted circadian rhythms, with beneficial effects on sleep patterns, while antagonism on serotonin receptors increases the availability of norepinephrine and dopamine in the prefrontal cortex, with an antidepressant and nootropic effect. The use of AGM in the pediatric population is limited by the scarcity of data. In addition, few studies and case reports have been published on the use of AGM in patients with attention deficit and hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Considering this evidence, the purpose of this review is to report the potential role of AGM in neurological developmental disorders. AGM would increase the expression of the cytoskeleton-associated protein (ARC) in the prefrontal cortex, with optimization of learning, long-term memory consolidation, and improved survival of neurons. Another important feature of AGM is the ability to modulate glutamatergic neurotransmission in regions associated with mood and cognition. With its synergistic activity a melatoninergic agonist and an antagonist of 5-HT2C, AGM acts as an antidepressant, psychostimulant, and promoter of neuronal plasticity, regulating cognitive symptoms, resynchronizing circadian rhythms in patients with autism, ADHD, anxiety, and depression. Given its good tolerability and good compliance, it could potentially be administered to adolescents and children

A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis

Background: Essential tremor (ET) is one of the more common movement disorders. Current diagnosis is solely based on clinical findings. ET appears to be inherited in an autosomal dominant pattern. Several loci on specific chromosomes have been studied by linkage analysis, but the causes of essential tremor are still unknown in many patients. Genetic studies described the association of several genes with familial ET. However, they were found only in distinct families, suggesting that some can be private pathogenic variants. Aim of the study: to characterize the phenotype of an Italian family with ET and identify the genetic variant associated. Methods: Clinical and genetic examinations were performed. Genetic testing was done with whole-exome sequencing (WES) using the Illumina platform. Bidirectional capillary Sanger sequencing was used to investigate the presence of variant in all affected members of the family. In silico prediction of pathogenicity was used to study the effect of gene variants on protein structure. Results: The proband was a 15-year-old boy. The patient was the first of two children of a non-consanguineous couple. Family history was remarkable for tremor in the mother line. His mother suffered from bilateral upper extremity kinetic tremors (since she was 20 years old), anxiety, and depression. Other relatives referred bilateral upper extremity tremors. In the index case, WES analysis performed supposing a dominant mode of inheritance, identified a novel heterozygous missense variant in potassium calcium-activated channel subfamily N member 2 (KCNN2) (NM_021614.3: c.1145G>A, p.Gly382Asp). In the pedigree investigation, all carriers of the gene variant had ET and showed variable expressivity, the elder symptomatic relative showing cognitive impairment and hallucinations in the last decade, in addition to tremor since a young age. The amino acid residue #382 is located in a transmembrane region and in silico analysis suggested a causative role for the variant. Modelling of the mutant protein structure showed that the variant causes a clash in the protein structure. Therefore, the variant could cause a conformational change that alters the ability of the protein in the modulation of ion channels Conclusions: The KCNN2 gene variant identified could be associated with ET. The variant could modify a voltage-independent potassium channel activated by intracellular calcium

Exploring the relationships between executive functions and personality dimensions in the light of "Embodied Cognition" theory: A study on a sample of 130 subjects

The Executive Functions and the dimensions of the personality seem to have numerous points of convergence both on the psychological and neurobiological sides. Current studies interpret this relationship as a linear concatenation that starts from a damage of the prefrontal cortical areas, produces a deficit of the executive functions and finally evolves towards the development of pathological character traits. In an "enacted cognition" perspective, the relationship between executive functions and personality should be interpreted according to a circular causality model that appears ecologically more realistic and adequate to empirical data. The present study evaluates executive functions and personality dimensions in a sample of 130 subjects using the Frontal Assessment Battery, the Temperament and Character Inventory, respectively. The results show that subjects with low empathic and emotional propensities, detected through 9 items of Temperament and Character Inventory, while not presenting any kind of disturbances, show Executive Functions that are not efficient or even inadequate. These data are not easily explained according to the classic linear model and seem to confirm the circular perspective proposed by the "embodied cognition" theory. However, an expansion of the sample is essential to obtain confirmation of the data that emerged

The effects of the endocrine disruptors and of the halogens on the female reproductive system and on epigenetics: A brief review

Introduction: An endocrine-disrupting chemical (EDC) is defined as "an exogenous chemical or a mixture of chemicals that interfere with any aspect of the hormonal action". Endocrine systems are a physiological interface with the environment and genetic-environmental interactions are disrupted by EDCs. Today, there are almost 1000 chemicals reported to have endocrine effects: the prevalence of EDC in our environment and in our bodies represents a major global health challenge. This review gathers the studies that have investigated the correlations between exposure to EDC and pathologies of the female reproductive system and fetal development. Methods: A PubMed research was conducted using the keywords, their variants, and their combinations (BPA, DES, MXC, pesticides, phthalates, plasticizers, PCBs, dioxins, ovaries, oocytes, ovaries, fallopian tubes, follicles, vagina, uterus, fibroids, fertility, infertility, puberty, polycystic ovary syndrome, premature ovarian failure, birth, preterm birth, birth outcome, steroid, hormone, female, girl and menopause). Results: The endocrine system plays a central role in all vertebrates and regulates critical biological functions such as metabolism, development, reproduction, and behavior. Epidemiological studies link EDCs with reproductive effects, neuro-behavioral and neurodevelopment alterations, metabolic syndrome, bone disorders, immune disorders, and cancers in humans. Human investigations confirm the results of the studies carried out on animal showing associations with many additional effects on health, including asthma, learning and behavior problems, premature puberty, infertility, breast and prostate cancer, Parkinson's disease, obesity and other diseases. Conclusions: It is important to undertake research with follow-up methodologies and/or longitudinal studies to detect the extent of exposure of pregnant women to EDCs and halogenated substances and the effects of such exposure on brain development. A future research hypothesis may consider the effect that these substances have on neuro-development and, more specifically, how EDCs are involved in pathogenic disorders such as autism spectrum disorders (ASD). In addition, a scientific study could be performed on the correlations between this type of substance and the inconveniences found in the field of executive frontal functions

Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities

Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children with typical development. All subjects underwent at least 1 overnight polysomnographic recording (PSG). All recorded data obtained from patients and controls were compared. In children with FXS, all PSG-recorded parameters resulted pathological values compared to those obtained from controls, and in FXS children only, we recorded interictal epileptiform discharges (IEDs), as diffuse or focal spikes and sharp waves, usually singles or in brief runs with intermittent or occasional incidence. A possible link between IEDs and alterations in the circadian sleep-wake cycle may suggest a common dysregulation of the balance between inhibitory and excitatory pathways in these patients. The alteration in sleep pattern in children with FXS may negatively impact the neuropsychological and behavioral functioning, adding increasing burn of the disease on the overall management of these patients. In this regard, treating physicians have to early detect sleep disturbances in their patients for tailored management, in order to prevent adjunctive comorbidities

Forensic considerations on violent parasomnias during lifespan

Nocturnal parasomnias are a group of sleep complex manifestation that don't alter the sleep macrostructure, but when persistent during adulthood may be assume violent aspects with relevant forensic implications about the guiltiness

Beneficial effects of pasta during pregnancy: The positive effects of mediterranean diet

Pregnancy is a physiological state during which the woman's body undergoes profound modifications. During this time, every woman must be nourished in such a way as to maintain herself in good health and at the same time allow the fetal tissues to form and develop in the best way. Proper nutrition is one of the fundamental prerequisites for the normal evolution of both pregnancy and fetal growth: the quantity and quality of food and drinks must be scrupulously controlled. Contrariwise, it is important to avoid the excess calories and macronutrients. In fact, during pregnancy, it may be just as harmful as their shortage, especially in overweight and obese women, for which the risk of miscarriage, gestational diabetes, fetal growth disorders and preeclampsia increases. The pasta constitutes the foundation of the Mediterranean diet food. The dough can be seen, therefore, so it represents an excellent ally of the diet from a nutritional point of view. The nutritional values of the pasta change depending on the type, based on the fact that the dough is traditional or integral semolina. It also contains Vitamin B and has an abundance of minerals, among which potassium. The pasta is an easily digestible food, ensuring energy ready to use (such as all carbohydrates); moreover, it possesses a great satiating power. In case of overweight, however, it is possible to reduce the number of carbohydrates in the diet, taking care not to make them ever miss. In conclusion, the consumption of pasta is very important during pregnancy: a diet without carbohydrates can be dangerous for all physiological pathways