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The aim of this study was to evaluate whether empathizing and systemizing are part of the parental broad autism phenotype (BAP). Parents (N = 76) of preschool children with a diagnosis of ASD and parents (N = 48) of typically developing (TD) children completed the Empathy Quotient (EQ) and Systemizing Quotient-Revised (SQ-R) questionnaires. The E-S discrepancy (D score) was used to test for sex differences in five "brain types". Our results suggest that the E-S theory do not seem to be part of the BAP. However, a stronger drive to systemize than empathize (Type S brain) could be a highly inheritable cognitive endophenotype of mothers of children with ASD. This study should be repeated with a larger sample size.

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Introduction and aim. Autism spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD) neurobiology reveals a complex picture of altered excitation-inhibition balance, aberrant neuronal and neurotransmitter activity, and network disorganization that could be addressed through repetitive transcranial magnetic stimulation (TMS). In this paper, we provide a narrative review of the most recent literature on the use of TMS to treat patients with ASD and ADHD. Material and methods. Literature search from 2018 up to November 2022 has been conducted on PubMed database. Keywords reflected diagnoses and treatment modalities of interest. Analysis of the literature. Eleven clinical trials regarding the use of TMS as a therapeutic tool in ASD, and seven studies (of which 3 are case reports) for ADHD have been reported. The dorsolateral prefrontal cortex (DLPFC) is the most frequent area stimulated. Heterogeneity in stimulation parameters, patient age, and outcome measures limited the interpretation of findings. Conclusion. TMS as a therapeutic tool for neurodevelopmental disorders is still in its infancy. To define the real efficacy of TMS, future studies must be randomized, sham-controlled, and double-blind, and should include a larger sample with adequate inclusion/exclusion criteria, and longitudinal follow-up. [ABSTRACT FROM AUTHOR]

Background: Parents' attitudes and psychological adjustment during their child's hospitalization in a pediatric neurorehabilitation care unit are key aspects for the child's adherence to care and the impact of the disease., Aim: The aim of this study was to examine the relationship between parenting stress, coping style, and negative psychological outcomes in families of children admitted for the first time to a pediatric neurorehabilitation care unit., Design: This is an observational study., Setting: Pediatric neurorehabilitation care unit., Population: One hundred twenty-four parents of children diagnosed with neurodevelopmental or neurological conditions., Methods: Parents completed standardized questionnaires assessing parenting stress, coping style, anxiety and depressive symptoms., Results: We found that parents of children with neurodevelopmental conditions showed more emotion-focused coping strategies (P=0.016) and depressive symptoms (P=0.01) compared with parents of children with neurological conditions. Hierarchical regression analyses showed that emotion- and avoidance-oriented coping style and socioeconomic status are crucial factors in the adjustment process of parents of children with neurodevelopmental conditions. By contrast, parenting stress and child difficulties were the most significant predictors of negative psychological outcomes in parents with neurological conditions., Conclusions: This study sought to develop more understanding of the relationship among parenting stress, coping, and anxiety or depressive symptoms in parent of children hospitalized in a pediatric neurorehabilitation care unit. We suggest that examining parents may increase our understanding of the interplay between child and parent functioning in families with children admitted for the first time to a pediatric neurorehabilitation care unit., Clinical Rehabilitation Impact: Identify these predictors might help professionals to develop screening procedures to identify parent at high risk for anxiety or depression, and to conduct early interventions to reduce uncertainty and maladaptive coping strategies that may influences rehabilitation process.