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Epilepsy is one of the most widespread chronic conditions, affecting about 50 million people worldwide [...]

Background The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth muscle, and neuropil. Its role in calcium signaling has been suggested and to date, clear evidence about its involvement in the pathogenesis of clinical disorders is still lacking. Methods Here, we report a female 24-year-old patient diagnosed with a cardio-facio-cutaneous-like phenotype (CFC-like), characterized by epilepsy, psychomotor development delay, atopic dermatitis, congenital heart disease, hypotonia, and facial dysmorphism, who is compound heterozygote for two missense mutations in the AHNAK2 gene detected by exome sequencing. Results This patient had no detectable variant in any of the genes known to be associated with the cardio-facio-cutaneous syndrome. Moreover, the mode of inheritance does not appear to be autosomal dominant, as it is in typical CFC syndrome. We have performed in silico assessment of mutation severity separately for each missense mutation, but this analysis excludes a severe effect on protein function. Protein structure predictions indicate the mutations are located in flexible regions possibly involved in molecular interactions. Conclusion We discuss an alternative interpretation on the potential involvement of the two missense mutations in the AHNAK2 gene on the expression of CFC-like phenotype in this patient based on inter-allelic complementation. publishedVersion

The present study tested the effect of priming the concept of prosociality on the bystander effect in an online environment. Participants were sent an e-mail requesting a plea for help and randomly assigned to one of four conditions in a 2 (Bystander: 0 vs. 14) × 2 (Priming: present vs. absent) design. The results demonstrated support for the study hypothesis. As expected, the virtual presence of many others significantly reduced e-mail responsiveness except when the request for help is preceded by prosocial priming. Implications of these findings for the literature on the bystander effect and priming are discussed.

Accurate identification of children’s pathogenic neuropsychological developmental trajectories or, on the contrary, of children’s typical developmental trajectories is one of the main objectives of developmental psychopathology [...]

Research on the effects of guilt on interpersonal relationships has shown that guilt frequently motivates prosocial behavior in dyadic social situations. When multiple persons are involved, however, this emotion can be disadvantageous for other people in the social environment. Two experiments were carried out to examine the effect of guilt and empathy on prosocial behavior in a context in which more than two people are involved. Experiment 1 investigates whether, in three-person situations, guilt motivates prosocial behavior with beneficial effects for the victim of one’s actions but disadvantageous effects for the third individual. Participants were faced with a social dilemma in which they could choose to take action that would benefit themselves, the victim, or the other individual. The findings show that guilt produces disadvantageous side effects for the third individual person present without negatively affecting the transgressor’s interest. In Experiment 2, participants were faced with a social dilemma in which they could act to benefit themselves, the victim, or a third person for whom they were induced to feel empathic concern. Again, the results show that guilt generates advantages for the victim but, in this case, at the expense of the transgressor and not at the expense of the third person, for whom they were induced to feel empathic concern. Therefore, guilt and empathy seem to limit the transgressor’s interest. The theoretical implications are discussed.

Sleep-related breathing disorders are a group of clinical conditions ranging from habitual snoring to obstructive sleep apnea syndrome (OSAS) during the lifespan. In children, other risk factors are represented by adenotonsillar hypertrophy, rhinitis, nasal structure alteration, cleft palate, velopharyngeal flap surgery, pharyngeal masses, craniofacial malformations, genetic syndrome (i.e. Down syndrome, Crouzon syndrome, and Apert syndrome), genetic hypoplasia mandibular (i.e. Pierre Robin syndrome, Treacher Collins syndrome, Shy-Drager syndrome, and Cornelia De Lange syndrome), craniofacial traumas, chronic or seasonal rhinitis, asthma, neuromuscular syndromes, brainstem pathologies (i.e. Arnold-Chiari malformation and Joubert syndrome), achondroplasia, and mucopolysaccharidosis. OSAS may affect the executive functioning such as motivational ability, planning, behavior modulation, ability to complete an action program, identification of functional strategies to achieve the goal, problem solving, flexibility, monitoring and self-assessment of behavior in relation to results, change of task, or behavior in the light of emerging information, which may be all impaired by nocturnal intermittent hypoxia also during the developmental age. The clinical presentation of OSAS can mimic other neurobehavioral symptoms, such as ADHD syndrome, learning problems, or can exacerbate the Fragile X syndrome, and generalized non-convulsive epilepsy symptoms.

Autism spectrum disorder is a neurodevelopmental disorder with a rising prevalence disorder. This high-cost/high-burden condition needs evidence-based behavioral treatments that are able to reduce the impact of symptoms on children’s functioning. This retrospective chart review study compared the impact of different types of early interventions on toddlers diagnosed with an autism spectrum disorder developmental profile. Analyses were conducted on 90 subjects (mean = 27.76 months, range 18–44 months; M:F = 4.29:1), of which 36 children underwent the usual treatment, 13 children underwent an intervention based on early intensive behavioral intervention (EIBI) and 41 children received the Early Start Denver Model, for one year, with the same weekly frequency of about 6 h a week. A significant decrease in the severity of autism symptoms was observed for all children when looking at the Ados-2 severity score (average difference = 3.05, SD = 0.71, p = < 0.001) and the Ados-2 social subscale (average difference = 2.87, SD = 0.59, p < 0.001). Otherwise, for most of the Griffiths subscales, we found a significant improvement only for those children who underwent the Early Start Denver Model intervention (General Quotient average difference = 14.47, SD = 3.22, corrected p < 0.001). Analyzing the influence of age on the investigated scores, we found a significant association with the Eye–hand Coordination Quotient (p = 0.003), Performance Quotient (p = 0.042) and General Quotient (p = 0.006). In all these domains, a mild negative correlation with age was observed, as measured by the Pearson’s correlation coefficient (r = −0.32, p = 0.002; r = −0.21, p = 0.044; r = −0.25, p = 0.019, respectively), suggesting less severe developmental skills at the start of treatment for older children. Our results are consistent with the literature that underlines the importance of early intervention, since prompt diagnosis can reduce the severity of autism symptoms; nevertheless, in toddlers, our study demonstrated that an intervention model based on naturalistic developmental behavioral principles such as the Early Start Denver Model is more effective on children’s developmental profile. Further studies are required to assess the extent of effectiveness of different early intervention models in community settings.