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Autism spectrum disorder and genetic: a possible correlation?
- M. Violi, M. Simoncini, A. Valetto, V. Bertini, F. Pardini, L. Massoni, C. Carmassi, L. Dell’Osso
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, p. S888
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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.
ObjectivesThe 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.
MethodsThe 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.
ResultsWe 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.
ConclusionsGenetic 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 InterestNone Declared
Discrepancy between objective and subjective measurements of sleep quality: the role of panic-agoraphobic spectrum
- F. Cruz Sanabria, M. Violi, L. Massoni, C. Bonelli, D. Gravina, S. Bruno, U. Faraguna, L. Dell’Osso, C. Carmassi
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, p. S266
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Introduction
There is evidence that anxiety and depressive symptoms may lead individuals to under-estimate their own sleep quality, particularly among younger subjects (aged <45 yrs).
ObjectivesThe aim of this study was to investigate the discrepancy between objective and subjective measurements of sleep quality in a sample of healthy control subjects (HCs) with no Axis I mental disorders, and the possible impact of panic-agoraphobic spectrum symptoms.
MethodsA total of 117 HCs (65 males and 97 females; Age: 35.3±14yrs) were evaluated by the: Panic Agoraphobic Spectrum-Self Report (PAS-SR), to investigate panic spectrum; the Pittsburgh Sleep Quality Index (PSQI) and actigraphy, respectively for the subjective and the objective sleep efficiency (SE) measures. Groups were divided according to the congruence between SE-actigraphic vs SE-PSQI (“Accurate”, “Underestimate”, “Overestimate”), establishing as a threshold an SE>85% as a measure of good SE. Regression analyses were conducted to assess the association between PAS-SR domains and the discrepancy between objective and subjective measurements, controlling confounding factors such as age, gender and BMI
ResultsSince our data showed that a low sleep quality was associated with a greater age and that higher PAS-SR scores were associated with younger age, we used a sub-sample of 117 participants with age <45 years and comparing the 3 groups of subjects created on the basis of the discrepancy: Accurate, N = 74 (63.2 %), “Overestimate group”, N= 23 (19.7 %), “Underestimate group”: N=20 (17.1 %), we found a statistically significant difference among groups in the PAS.SR separation anxiety domain (p value=0.032), with a multinomial regression model confirming this domain contributed significantly to the differentiation between the three groups with higher symptoms being associated with a higher probability of belonging to the “underestimate” group.
ConclusionsOur results suggest that the discrepancy between objective and subjective sleep efficiency measurements in HCs could be affected by panic spectrum symptoms, particularly separation anxiety.
Disclosure of InterestNone Declared
New perspectives on the role of vitamins in bipolar disorders: are there any relationships with outcomes?
- G. De Iorio, D. Marazziti, L. Massa, M. Violi, M. G. Carbone, A. Arone, S. Palermo, W. Flamini, L. Massoni, L. Dell’Osso
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, pp. S197-S198
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Introduction
Vitamin B12, folic acid and homocysteine play a key role in cellular functioning as part of “one-carbon metabolism”, a biochemical pathway involved in many essential biological processes, such as DNA synthesis. Therefore, imbalance involving these micronutrients might impair neurological functioning as well. Vitamin B12 has been implicated in the onset of a wide range of neuropsychiatric symptoms/disorders, like mood disorders, anxiety, hallucinations and delirium. Altered levels have been reported in mood disorders (MDs), but available literature particularly focuses on major depression (MDD), while the information in bipolar disorders (BDs) is still limited.
ObjectivesThe present study aimed at assessing vitamin B12, homocysteine and folic acid in bipolar inpatients and detecting any relationship with clinical features or outcome measures.
MethodsA total sample of 69 inpatients was selected. Diagnoses of bipolar disorder I (BDI), II (BDII), schizoaffective disorders, and MDD, were assessed according to DSM-5 criteria. The Mini International Neuropsychiatric Interview (MINI), Hamilton Rating Scale for Depression (HRSD), Young Mania Rating Scale (YMRS) and Clinical Global Impression-Severity (CGI) scales were used to complete the psychopathological evaluation. The blood parameters were measured according to common clinical-chemical methods.
ResultsAbout 50 % of bipolar patients (34) showed significantly lower vitamin B12, and 14 higher homocysteine levels than normative values. No differences were noted between genders, except for a slightly higher rate of women showing lower homocysteine, phase of illness, intake of psychotropic drugs, or dietary habits. Folic acid levels were normal in most of the sample. Patients with a family history of suicide showed significantly lower levels of vitamin B12.
ConclusionsThese results suggest that implementing the assessment of vitamin B12, homocysteine and folic acid in patients with BD in routine clinical practice could be a useful as well as simple, non-invasive and cheap tool. Although other studies are necessary, the present findings that lower levels of vitamin B12 seem typical of patients with a family history of suicide independently from the phase of illness, suggests that they might constitute a possible predictor of this tragic outcome.
Disclosure of InterestNone Declared
Pseudodementia or depression? An unresolved issue. Cognitive alterations in a population of geriatric patients
- M. Violi, B. Buccianelli, M. Simoncini, L. Massoni, F. Pardini, L. Massa, S. Palermo, A. Arone, M. G. Carbone, D. Marazziti, L. Dell’Osso
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, pp. S359-S360
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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.
ObjectivesThe 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.
MethodsThe 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).
ResultsThe 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
ConclusionsThese 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 InterestNone Declared
Serotonin, insulin, leptin and glycolipid metabolic factor’s relationship in obesity
- S. Palermo, I. Chiarantini, G. Cappellato, A. Arone, L. Massoni, S. Fantasia, M. Violi, D. Marazziti
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, pp. S422-S423
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Introduction
Obesity, defined by an excessive body fat accumulation, is a non-communicable condition attaining epidemic proportions in economically developed countries.
ObjectivesTo provide evidence to the link between serotonin (5-HT), energy metabolism and the human obese phenotype, the present study investigated the binding and function of the platelet 5-HT transporter (SERT), in relation to circulating insulin, leptin, glycolipid metabolic parameters and body-mass indices (BMIs, Kg m-2).
MethodsThe study included an observational clinical cohort of 74 drug-free subjects (51W; 23M), recruited on the basis of divergent BMIs (16.5-54.8 Kg m-2). All subjects were tested for their blood glycolipid profile together platelet [3H]-paroxetine ([3H]-Par) binding and [3H]-5-HT reuptake measurements from April 1st to June 30th 2019.
ResultsThe [3H]-Par Bmax (fmol/mg proteins) was progressively reduced with increasing BMIs (p<.001), without changes in affinity. Moreover, Bmax was negatively correlated with BMI, waist/hip circumferences, triglycerides, glucose, insulin and leptin, while positively with HDL cholesterol (p<.01). The reduction of 5-HT uptake rate (Vmax, pmol//min/109platelets) amongst BMI groups was not statistically significant, but Vmax negatively correlated with leptin and uptake affinity values (p<.05). Besides, [3H]-Par affinity values positively correlated with glycaemia and triglycerides, while [3H]-5-HT reuptake affinity with glycaemia only (p<.05). Finally, these correlations were specific of obese subjects, while, from multivariate linear-regression analysis conducted on all subjects, insulin (p=.006) resulting negatively related to Bmax independently from BMI.
ConclusionsThe present findings would suggest the presence of a dysfunctional insulin/5-HT/leptin axis in obesity, differentially impinging the density, function and/or affinity of the platelet SERT, as the result of complex appetite/reward-related interactions between the brain, gut, pancreatic islets and adipose tissue. In addition, they support the foremost cooperation of insulin and 5-HT in maintaining energy homeostasis.
Disclosure of InterestNone Declared
Sleep disturbances in bipolar disorder with comorbid post-traumatic stress disorder
- F. Cruz Sanabria, C. Bonelli, D. Gravina, M. Violi, L. Massoni, S. Bruno, U. Faraguna, L. Dell’Osso, C. Carmassi
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, pp. S196-S197
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Introduction
Sleep disturbances are frequently reported in patients with Bipolar Disorder (BD), parallel, patients with BD report significantly higher rates of exposure to major lifetime traumatic events than the general population with a high risk of developing PTSD.
ObjectivesThe aim of this study was to compare sleep parameters subjectively and objectively measured, in patients with BD with or without PTSD with respect to healthy control subjects.
Methods73 patients with BD (26 BD+ PTSD and 46 BDw/oPTSD) and 88 HC were evaluated through actigraphic monitoring to explore sleep and circadian parameters, scales exploring sleep quality (Pittsburgh Sleep Quality Index -PSQI-) and chronotype (reduced Morningness-Eveningness Questionnaire –rMEQ-) and the Trauma and Loss Spectrum Self Report (TALS-SR), for lifetime trauma and loss spectrum symptoms.
ResultsCompared to age-matched HC, patients with BD reported lower sleep quality, lower rMEQ scores suggestive of delayed chronotype, longer total sleep time, higher waking after sleep onset, lower interdaily stability and lower sleep health. Patients with BD+PTSD reported significantly higher PSQI scores than BDw/oPTSD; significant correlations between the PSQI total scores and TALS-SR symptomatic domains emerged in the BD+PTSD group only.
ConclusionsOur results suggest a strong correlation between sleep disturbances, particularly evaluated by subjective measures, and PTSD symptoms in patients with BD.
Disclosure of InterestNone Declared
Effect of coffee drinking on platelets: inhibition of aggregation and phenols incorporation
- F. Natella, M. Nardini, F. Belelli, P. Pignatelli, S. Di Santo, A. Ghiselli, F. Violi, C. Scaccini
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- Journal:
- British Journal of Nutrition / Volume 100 / Issue 6 / December 2008
- Published online by Cambridge University Press:
- 01 December 2008, pp. 1276-1282
- Print publication:
- December 2008
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Epidemiological studies indicate a J-shaped relationship linking coffee consumption and cardiovascular risk, suggesting that moderate coffee consumption can be beneficial. Platelet aggregation is of critical importance in thrombotic events, and platelets play a major role in the aetiology of several CVD. The aim of this study was to evaluate the effect of coffee drinking on platelet aggregation ex vivo, using caffeine as control. A crossover study was performed on ten healthy subjects. In two different sessions, subjects drank 200 ml coffee, containing 180 mg caffeine, or a capsule of caffeine (180 mg) with 200 ml water. Platelets were separated from plasma at baseline and 30 and 60 min after coffee drinking. Platelet aggregation was induced with three different agonists: collagen, arachidonic acid and ADP. Coffee drinking inhibited collagen (P < 0·05 from baseline at time 30 min) and arachidonic acid (P < 0·05 from baseline at time 60 min) induced platelet aggregation. Caffeine intake did not affect platelet aggregation induced by the three agonists. Coffee consumption induced a significant increase of platelet phenolic acids (likely present as glucuronate and sulphate derivatives), caffeic acid, the principal phenolic acid in coffee, raising from 0·3 (sem 0·1) to 2·4 (sem 0·6) ng/mg (P < 0·01). Caffeine was not detectable in platelets. Coffee drinking decreases platelet aggregation, and induces a significant increase in phenolic acid platelet concentration. The antiplatelet effect of coffee is independent from caffeine and could be a result of the interaction of coffee phenolic acids with the intracellular signalling network leading to platelet aggregation.