Introduction Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social interaction and communication, whose etiology is heterogeneous, including genetic, epigenetic, and environmental factors. It is associated with restricted interests and stereotyped behaviors with high prevalence rates in general population, neurobiological bases and high heritability. Objectives The aim of our study is to identify the possible phenotype-genotype relationships regarding neurodevelopmental disorders and to evaluate a correlation between genomic alterations and the manifestations of the overt and subthreshold ASD in a family administered psychiatric clinical evaluations at our hospital. Methods The family M underwent a psychiatric evaluation through the MINI interview according to the SCID-5 criteria, the AQ, ADAS, PAS-SR, SHI-SHY,SHY-OBS to assess respectively the subthreshold traits of ASD in adulthood, the panic-agoraphobic, social-phobic and obsessive-compulsive spectrum and CAT-Q Italian version, to evaluate social camouflage behaviors typical of ASD individuals. Array Comparative Genomic Hybridization was used for studying DNA imbalances in this family. Results We found that Mrs.A, her father, her brothers and her older sister had a microduplication, very likely pathogenic, since it has been never reported in healthy subjects and harbors several genes. It could be related with overt and subthreshold traits of ASD. From the questionnaires administered and from the clinical interview, it emerged that Mrs.A is affected by ASD and Bipolar Disorder. Her twin brothers have been evaluated at early ages by child neuropsychiatric clinic and they were diagnosed with ASD and mental and psychomotor impairment. Her father was reported a significant trend in ADAS, AQ, PAS-SR, SHI-SHY and SHY-OBS scores. Finally, about her older sister, even if our results were not significant for an ASD diagnosis, we speculated that she performed a high score in some ADAS items and in the CAT-Q but not in the AQ. Females generally tend to attract fewer attention than males thanks to their better coping and camouflaging mechanisms as well as their ability to “disappear” in large groups. Conclusions Genetic knowledge can have a relevant clinical impact; a genetic etiology can be identified in individuals with ASD, leading to the identification of treatable psychiatric comorbidities. Furthermore, knowing the causative genetic variants of ASD could provide crucial information for genetic counseling as well as to understand the neurobiology of these disorders and to contribute to an early diagnosis. Disclosure of Interest None Declared

Introduction The relationship between mood disorders, particularly depression and cognitive impairment is complex. The symptoms of depression in the elderly include confusion, sleep alterations, low concentration, cognitive deficits, and somatic complaints that may are also present in dementia, with depression being often a prodrome. Objectives The present study aimed at investigating the presence of cognitive disturbances in outpatients over 65 years of age consulting us for a mood episode, as well as to investigate the possible relationships between cognitive and depressive symptoms. Methods The study included 57 older patients attending the Psychiatric Clinic of Pisa, with a diagnosis of a major mood episode according to DSM-5 criteria. The psychometric scales included: Hamilton Depression Rating Scale (HAM-D), Beck Inventory Scale (BDI), Geriatric Depression Scale (GDS), to measure the severity of depression; Short Psychiatric Evaluation Schedule (SPES), to assess organic mental deficits; Cornell Scale for Depression in Dementia (CSDD), to assess depression in people with dementia; Adult Autism Subthreshold (AdAS) Spectrum, to evaluates the eventual presence of specific features of the autistic spectrum disorder(ASD). Moreover, patients were also assessed for cognitive screening with Montreal Cognitive Assessment (MoCA), Frontal Assessment Battery (FAB), Mini-Mental State Examination (MMSE). Results The HAM-D total score was 10.18±6.33, that of BDI 12.79± 9.89, that of GDS 12.69±8.25 and that of CSDD 8.35±6.25. The showed a MoCA value was 21.30±4.86, that of FAB 14.12±3.92, and that of MMSE 25.06±4.20. The MoCA total score positively correlated with those of the FAB and of the MMSE, while the FAB score with the MMSE score. A positive correlation was found between SPES and the HAM-D, BDI, CSDD and GDS total scores. The AdAS score positively correlated with that of MMSE. By correlating scores of depressive dimensions with those of cognitive functions, a positive correlation was noted between FAB total score and those of the HAM-D, BDI, CSDD and SPES Conclusions These findings suggest a possible link between the presence of ASD and depressive symptoms from the one side and cognitive performance and executive functions from the another side. Disclosure of Interest None Declared

Several lines of evidence indicate that anesthetic doses of the non-competitive N-methyl-D-aspartate receptor antagonist ketamine disrupt memory functions in rodents. The mechanism by which anesthetic ketamine produces its adverse behavioural effects is not yet clarified. The implication of nicotinic acetylcholine receptor as a potential site of action of anesthetic ketamine adverse effects on memory is proposed. We investigated the ability of α4β2 nicotinic receptor agonist ABT-418 (0.01, 0.03, 0.1 mg/kg, i.p.) and α7 nicotinic receptor agonist GTS-21 (0.3, 1, 3 mg/kg, i.p.) to counteract recognition memory deficits produced by acute post-training administration of anesthetic ketamine (100 mg/kg, i.p.) in rats. For this purpose, the novel object recognition test, a behavioural paradigm assessing recognition memory abilities in rodents was used. Post-training acute administration of GTS-21 (3 mg/kg) counteracted anesthetic ketamine-induced performance deficits in the novel object recognition memory task. By contrast, ABT-418 failed to reverse the recognition memory deficits caused by anesthetic ketamine. The present findings propose that an α7 nicotinic receptor component might modulate anesthetic ketamine's adverse effects on recognition memory.

This study aimed to determine the groundwater quality index (WQI) and investigate the anthropogenic factors causing changes in this index in Shiraz plain. This research studied the quality of groundwater of 35 wells for five years. Groundwater samples were analyzed for pH, TDS, TH, HCO3−1, Cl−1, F−1, SO4−2, Ca+2, Mg+2, No3-1, and Na+1 and a microbial parameter was analyzed to compute the water quality index (WQI). Factors Affecting was evaluated using field studies, Google Earth, and multivariate statistical analysis and piper diagram. The computed WQI values ranged from 40.01 to 117.38. Overall, 5.7% of groundwater sites sampled had excellent water quality, while 65.7% were good. 28.6% of the samples indicated poor water quality. The zoning results showed that the water quality index (WQI) was worsening from northwest to southeast and from northeast to southeast. The correlation between water quality index WQI and changes in industrial land use and between water quality index (WQI) and changes in the unused lands were 0.46, and 0.35, respectively. Principal component analysis (PCA) on the chemical parameters revealed two factors that account for about 77.44% of the total variance in groundwater quality data set; the first factor (with high Eigen values) indicates that variation in water quality is due to natural origin. According to the results of hierarchical cluster analysis (HCA), there are three quality groups in groundwater of the research area: the first group of 8 wells, the second group of 11 wells, and the third group of 16 wells. In this context, the Piper diagram also indicates groundwater facies of the study area were Ca2+ - Mg2+ HCO3−; this is also due to water interaction, the limestone of a karst aquifer. The groundwater hydro-chemical in the study area is the majority of human activity, but it is influenced to some degree by the natural process.