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
The use of dietary supplements and herbal medicines is spreading across many developed countries. Although patients without specific problems can administer most, relevant toxicities might occur with a reckless use of dietary supplements, especially when psychiatric or medical comorbidities are present. Limited research is available on these compounds. We describe the case of a suspected intoxication due to a reckless use of a number of dietary supplements and herbal medicines (forty different compounds) in a patient with a history of recurrent depression and gromerulonephritis, hospitalized for acute cognitive and psychomotor impairments.
Mario Miniati Section of Psychiatry, Department of Clinical and Experimental Medicine, University of Pisa, via Roma 57, 56100, Italy • E-mail: mario.miniati@med.unipi.it Summary Autism Spectrum Disorder (ASD) has been recently highlighted as potentially related to a higher risk for suicide. ASD features are often under-recognized, especially in subjects with high level of functioning. We present the case of a 21-year-old man who attempted suicide jumping from the third floor of his home. The patient had been treated during the last 3 years for a Schizoaffective Disorder. Patient’s history showed the presence of signs and symptoms belonging to the realm of ASD. We hypothesize that the long-lasting presence of ASD features (instead of the schizoaffective symptomatology) was a clinically significant (but unrecognized) component that ultimately raised the suicide risk.
Objectives To compare predictive formulae commonly used to calculate resting energy expenditure (REE) with the indirect calorimetry (IC) in a sample of female outpatients with bipolar I disorder, stabilised with long-term psychopharmacological treatment. Methods Seventeen female patients with bipolar I disorder were evaluated with an IC instrument (VO2000). IC values were compared with the Harris-Benedict, Mifflin-St. Jeor and LARN equation methods. Results The measured REE was not significantly correlated with the three equations. The mean differences between REE values estimated with Harris-Benedict, Mifflin-St. Jeor and LARN equations, and the value measured with IC was significantly different from zero. Moreover, a significant difference was found between the mean REE values measured with the IC and the mean values estimated with the three equations. Conclusions Equations commonly utilised for the assessment of REE are not alternatives to IC in female patients treated for bipolar I disorder.
Introduction: The aim of this study was to evaluate the efficacy of a psychoeducational program (PEP) for weight control in patients who had experienced an increase of body weight during treatment with olanzapine.Methods: Eligible patients were randomised to the PEP (Group 1) or to no intervention (Group 2) and continued on olanzapine. After 12 weeks, the PEP was also started in Group 2 and continued in Group 1, up to week 24. Body weight was measured every month. Other measures included quality of life, and change in plasma glucose and lipids levels.Results: Patients inGroup 1 (n=15) had a mean weight loss of 3.6kg at week 12 and 4.5 kg at week 24 (p < 0.01 at both times, p < 0.01 between groups at week 12), while those in Group 2 (n = 18) had no changes at week 12 and a significant weight loss at week 24 (- 3.6 kg from week 12, p<0.01). Changes of BMI paralleled those of body weight. Quality of life (Q-LES-Q-SF categorisation) and functioning (GAF) significantly improved in the total population at endpoint (p<0.01). No significant changes were observed in fasting glucose and lipid profile, while insulin levels significantly decreased from baseline to endpoint in both groups (p<0.05). HOMA index and hepatic insulin sensitivity improved, too.Discussion: Patients with increased BMI during treatment with olanzapine experienced significant weight and BMI loss following a structured psychoeducational program.
The authors investigated the presence of a serum activity inhibiting the specific binding of 3H-flunitrazepam (which labels the central benzodiazepine receptors) (BBIA) in patients with different psychiatric disorders and analyzed it by means of high performance liquid chromatography (HPLC) analysis. The results showed that the lowest activity was present in healthy controls who were not different from patients with schizophrenia and obsessive-compulsive disorder. On the contrary, the BBIA values of these 3 groups of patients were significantly lower than those found in patients with bipolar disorder in various phases (depressive, mixed or manic), in unipolar depressives and in patients with panic and delusional disorders. The HPLC analysis of the serum extracts revealed the presence of 3 peaks of activity which were differently distributed in the patients and in the healthy controls, peak 3 being totally absent in the last group and mainly represented in bipolar depressives. The GABA ratio values showed that peaks 1 and 2 behave as agonists while peak 3 behaves as an inverse agonist. The mass fragmentography of the different peaks is in progress.