Impulsivity/disinhibition trait has been defined as the predisposition to respond to internal or external stimuli without regard to the potentially negative consequences. the genetic of personality traits has been evaluated in relation to microsatellites and SNPs, however, the contribution of copy number variation (CNV) is poorly known. We hypothesize that CNV may be part of the genetic component of the impulsivity/disinhibition trait.

To evaluate the distribution of CNV in a cohort of impulsive/disinhibited subjects.

To detect CNV, CNV regions (CNVR) and candidate genes involved in impulsive-disinhibited trait.

Comparative genome hybridization (CGH) analysis in a group of subjects that scores the highest values in impulsivity/disinhibition questionnaires. DNA from each high scoring subject was compared with a pool of DNA obtained from low scoring controls. Data was analysed by Agilent Genomic Workbench using ADAM2 algorithm to identify CNVs and CNVR with statistical threshold of 7.5 and a minimum of 4 probes.

A list of 68 genes, from the 38 selected CNVRs, was obtained from Human Genome build 37 (h19). Enrichment of genes for biological attributes and disease association were captured from Phenotype-Genotype Integrator and GeneDecsk web resources. Experimental validation of enriched genes, by Taqman copy number assays and MLPA, are in progress.

As an exploratory strategy we will be able to capture genes differentially represented in subjects analyzed, that could be experimentally validated in the entire cohort.

Autism is characterized by a broad spectrum of disorders of communication, language skills, social interaction and behaviour (Autism Spectrum Disorder, ASD). Studies of twins’ concordance indicate that 85–90% of the ASD variability can be attributed to a genetic basis with a strong genotype-environment interaction. It has been suggested that copy number variations (CNV) contribute significantly to the phenotypic variability of complex disorders such as autism. 10–15% of monozygotic twin pairs show discordance on ASD.

To evaluate CNVs patterns in a pair of male monozygotic twins discordant for ASD.

To identify ASD candidate genomic regions and genes.

A pair of discordant monozygotic twins was diagnosed according to ADOS and ADI-R as Autistic Disorder (twin1) and Pervasive Developmental Disorder Not Otherwise Specified (twin2). DNA was obtained from blood and saliva and used to perform a comparative genome hybridization (CGH) analysis with the Agilent 2X400K CGH-array. DNA from each twin was compared with a DNA pool obtained from healthy controls. CGH results were analysed by Agilent Genomic Workbench using ADAM2 algorithm (threshold of 6 and a minimum of 4 probes) to identify CNVs.

X-fragile and Angelman Syndrome aetiology were discarded. We identified common and private CNV in blood and saliva. Two CNV regions (CNVR) located at 16p11.2 and 1p36.13 were identified as private for twin1 and twin2, respectively.

CNVR differ among ASD discordant monozygotic twins. 16p11.2 microdeletion syndrome has been related to autism. An in deep characterization could allow us to identify candidate genes in ASD.

Serotonin transporter 5-HTT plays an important role in serotogenic transmisssion. Three polymorphisms, an insertion/deletion and SNP in the promoter region and a variable nucleotide tandem repeat (VNTR) in intron 2, influence expression of the 5-HTT gene. These polymorphisms can contribute to the etiology of many psychiatric disorders.

Associations between a functional variant in the serotonin transporter anxiety-related personality traits were found, as well as the risk of developing depression, alcoholism or suicidal behavior.

The aim of the study was to found possible differences in distribution of variants in three age groups of population.

We examined three polymorphisms at the serotonin transporter protein locus (SLC6A4) in free specific and representative cohorts drawn from the Czech population. These cohorts were stratified according to their age: group A - randomly selected elderly individuals (over 75 years of age), group B young adults in reproductive age (age ranging between 19–45 years) and c) group C - newborns, all with balanced gender representation.

Analysis revealed that elderly individuals were statistically more likely than to carry two copies of the L allele of the lenth polymorphism. This may be due to the protective character of L allele, which is associated with lower susceptibility to bipolar affective disorder, depression, alcohol dependence and neuroticism and can be associated with good mental health and length of living.

Chronic hepatitis C infection (CHC) represents a public health problem that affects around 3% of population worldwide. Pegylated Interferon-alpha (PegIFN-α) and Ribavirin (RBV) is the recommended treatment reaching about 40–80% of sustained virological response. However, a common treatment side-effect is induced-depression that impairs patient's quality of life and treatment adherence (1,2). This paper showed polymorphisms in HTR1A, NCR1, TPH2 genes as predictive variables of IFN-induced depression.

396 consecutive, euthymic, CHC outpatients treated with PegIFN-α/RBV were included. Patients were assessed at baseline, 4, 12, 24 and 48 weeks of treatment using PHQ and MINI-DSM-IV-R interview to diagnose depression. Survival analysis was performed. in the univariated analysis functions were compared using logrank test. Significative variables (0.1 level) were extracted for the multivariated model, using a Weibull regression model.

The incidence of induced-depression along the treatment was 39.4%. Polimorphisms on HTR1A (P = 0.0104), TPH2 (P = 0.0231) and NRC1 (P = 0.0702) genes predicted IFN-induced depression.

Genes related with serotonine and inflamation system may play an important role in the pathogenesis of IFN-induced depression. Knowledge of predictive variables for IFN-induced depression may help to better manage patients at risk.

The insulin receptor substrate-4 (IRS-4) protein is highly expressed in the hypothalamus that plays a main role in the regulation of body weight. at the same time, overweight and obesity are more common in patients with schizophrenia compared to the general population. Therefore, this study was undertaken to investigate potential associations between body mass index (BMI) or height and polymorphisms in the IRS-4 gene in schizophrenia patients and healthy control subjects.

The whole IRS-4 gene of 93 patients and 59 control subjects was screened for DNA sequence variations, and then 10 detected single nucleotide polymorphisms (SNPs) were investigated in relation to BMI and height of patients and control subjects.

Mean BMI was higher in patients than in control subjects, whereas there was no difference regarding height. Significant associations were found between patients' BMI and genotypes of six IRS-4 SNPs or a haplotype including these six SNPs. in contrast, no associations were found between BMI or height of control subjects, or height of patients, and the genotypes or haplotypes.

This study clearly demonstrates associations between BMI and IRS-4 gene variants in schizophrenia patients, but not in healthy control subjects, pointing to a possible involvement of IRS-4 in the control of body weight in schizophrenia.

Autistic features are present in a variety of genetic syndromes and have stimulated research into the genetic underpinnings of autism spectrum disorders. To understand this genetic heterogeneity, various techniques can be used such as cytogenetic research, linkage studies, and association studies. at present, CGH-microarray technique is primarily used, which enables examination of the complete genome for the presence of microdeletions and duplications or so-called copy-number variations (CNVs). the most investigated syndromes are fragile-X syndrome, Rett's disorder, tuberous sclerosis and 22q11microdeletion syndrome. in addition, metabolic disorders as well as a variety of somatic diseases may be accompanied by autistic symptoms.

To study the genetics involved in autism spectrum disorders.

Review of the literature about the most investigated genetic syndromes.

Data from own studies in patients with 22q11 microdeletion syndrome are briefly discussed against the background of the results from the literature on other genetic syndromes that are rather frequently related to autism.

Fragile-X syndrome, Rett's disorder, tuberous sclerosis complex, 22q11 microdeletion syndrome, and metabolic disorders like X-linked creatine transporter deficiency syndrome, all deal with mutations or copy number variants in genes that code for proteins responsible for neuronal growth and maturation, and/or synaptic functioning.

From the vast amount of information, it becomes obvious that autism is a very heterogeneous disorder both phenotypically and genotypically, reason why the search for single high impact genes will not be very successful. Focus should be given to the endophenotype strategy to unravel potential gene-brain-behaviour relationships in autism spectrum disorders.

Spinocerebellar ataxias represent a heterogeneous group of neurodegenerative disorders. Over the last decade, novel mitochondrial genetic diseases have been identified in which mutations in DNA polymerase γ (POLG) gene are involved. POLG1 is essential for mitochondrial (mt) DNA replication and repair. at present, more than 100 disease mutations in POLG have been indentified that are causally related to an array of multi-system neuropsychiatric diseases.

The significance of POLG in the pathophysiology of complex neuropsychiatric disorders.

Studying the involvement of POLG mutation in major depression.

Detailed diagnostic evaluation, including genetic analysis, of a middle aged female patient with recurrent psychotic depression, slowly progressive gait instability and dilated cardiomyopathy.

As to psychiatry, major depression with psychotic features was present. the diagnosis of dilatated cardiomyopathy was confirmed. MRI scanning of the brain demonstrated marked cerebellar atrophy. Neuropsychological functioning was characterized by a sub-average disability, lowered speed of information processing and a relatively intact working memory. Extensive genetic and metabolic investigation demonstrated a nucleotide substitution c.2207 A→G in the POLG gene resulting in amino acid change Asn 736Ser in exon 13. This mutation was considered to be compatible with a mitochondrial disorder and implicated in the pathophysiology of the neuropsychiatric syndrome.

This novel POLG mutation is considered to be the etiological explanation for the combination of major depression, cardiomyopathy, and ataxia. in patients with complex neuropsychiatric disorders, extensive diagnostic analyses is warranted, including the search for mitochondriopathies.

Whole genome microarray techniques are a primary tool for the etiological assessment in patients with intellectual disabilities. as a result, several novel microdeletions have been demonstrated that could be causatively related to the disorder. Interpretation of array results is facilitated through the use of databases such as the European Cytogeneticists Association of Unbalanced Chromosome Abberations (ECARUCA; http://www.ecaruca.net).

Clinical interpration of rare de novo microdeletions.

Detailed evaluation of a young female with unexplained intellectual disability.

Extensive neuropsychological, neurological, and genetic workup in a 9-years-old female patient with a history characterized by delay of psychomotor and speech development, mild to moderate intellectual disability and persistent sleep disturbances since the age of two.

Several dysmorphic features were noticed including hypertelorism, downslanting palpebral fissures, a long, pear shaped nose, and low set, posteriorly rotated ears. Furthermore, she had a pectus excavatum, bilateral flat feet, and a sandal gap. Besides lowered intelligence, neuropsychological functioning disclosed impaired attentional capacities and executive control as well as weak motor skills. MRI of the brain disclosed no abnormalities. EEG demonstrated frequent epileptiform activity centroparietal bilaterally with marked increase during sleep, corresponding with continuous spike-waves during slow sleep (CSWS) syndrome. Array-CGH demonstrated a 3.57 Mb de novo microdeletion in chromosome 8q12.3.

This de novo 8q12.3q13.2 microdeletion syndrome is characterized by a specific combination of a rare form of juvenile epilepsy (CSWS), neuropsychological dysfunction, impaired language and motor skills.

Epigenetic changes may play a role in the etiology of psychotic diseases. It has been demonstrated that olig2 is implicated in schizophrenia (SCZ) and bipolar disorder (BPD). the aim of this study was to investigate the methylation status of a promoter region of the olig2 gene in BPD and SCZ patients.

Our study included 41 BPD and 45 SCZ (DSM-IV criteria) as well as 53 control subjects. DNA was extracted from blood leukocytes and bisulfited sequence analysis was used to determine the DNA methylation status of a typical CpGs island within the promoter region of olig2.

We found the methylated cytosines occurred mainly in two clusters. Olig2 gene promoter was hyper-methylated(∼30%) in DNA derived from the blood leukocytes in SCZ and BD compared to the controls subjects(P = 0.01 and P = 0.03, respectively). There was no statistically significant difference in frequency of site-specific cytosine methylation modification of Olig2 gene between SCZ patients and BD patients(P = 0.21).

We observed increased DNA methylation in the promoter region of the olig2 gene of SCZ and BPD. This could explain the reported decrease of the gene expression. the current study supports the growing interest of DNA methylation in psychopathology.

Diogenes syndrome is a rare behavioural disorder of the elderly. Symptoms include living in extreme squalor, unhygienic conditions and a neglected physical state. Also observed are self-imposed isolation, refusal of external help and a tendency to accumulate unnecessary objects.Around half of these cases present with psychotic features, while the remainder have lifelong severe personality traits suggestive of paranoid personality disorder.

The authors report an interesting case of a patient presenting with Diogenes syndrome and syllogomania compulsorily admitted to our department. They also describe the investigation carried out, treatment approach, outcome and follow-up.

Diogenes syndrome is a rare clinical entity with high mortality observed in geriatric settings. the findings can be seen as normal and harmless traits of a healthy person and the patients often refuse medical assistance. This raises ethical issues on whether there should be a compulsory intervention.

There are no specific diagnostic criteria nor is there a consensus on the medical approach and treatment. the diagnosis is clinical and the available literature mostly relies on published case reports. with this report the authors hope to add to the growing evidence and thus contribute to a more global knowledge of the syndrome.

The use of psychotropic medications in late-life is widespread although few population-based studies are available in literature.

To evaluate drugs utilisation in elderly with special regard to psychotropic medications.

462 subjects (mean age 85.09 ± 6.86 years, 53.2% women) were administered the Cambridge-Mental-Disorders of the Elderly-Examination and were clinically evaluated in order to investigate their mental health status (DSM-VI criteria) (Dementia N = 88, Major Depressive Episode N=8, Generalized Anxiety Disorder N = 66).

One out of three participants used five drugs or more (antihypertensive: 68%, antiplatelet: 44%, psychotropic: 26.1%). Among psychotropic agents, the most frequent were benzodiazepines (25.7%) particularly those with short half-life. Antidepressant treatment was also common (13.5%), especially SSRI (73%): sertraline and paroxetine were the most frequently prescribed (39.8%, 33.7% respectively) followed by citalopram and escitalopram (20.4%) and fluoxetine (8.2%). Less than 1% of the sample received tricyclic antidepressants, trazodone and mirtazapine.

Out of 462 participants, 29 used typical antipsychotics: butirrofenoni (34.3%), phenothiazine (23.4%) and benzamides (23.4%). Atypical antipsychotic agents were not widely used, in particular only 3 subjects used risperidone and 2 amisulpiride. Finally, 1.7% used cholinesterase-inhibitor, 1.1% citicolina and 0.4% psychostimulants.

One out of four community-dwelling elderly take at least one psychotropic drug; 38 persons used two psychotropic drugs or more.

Estimation of prevalence of substance misuse in elderly ranges from 3.5% to 30% in seniors with or without mental disorder (Clément et al, 2006). Therefore adequate attention should be paid to this topic.

Our study is mapping the prevalence of substance use of any type in women seniors who have been hospitalized in Mental hospital Kroměříž from 2009 to 2011.

Estimation of prevalence of substance abuse in hospitalized women seniors with psychiatric morbidity.

Retrospective study (2009–2011). Instruments: medical records in written and electronic form have been studied.

The estimated prevalence of substance misuse is 18.8% of hospitalized seniors. the mostly misused are analgetics (46.7%) followed by hypnotics (26.5%), benzodiazepines (20.1%) and other substances (6.7%).

Substance misuse in elderly has high prevalence and strong clinical impact in senior patients (polymorbidity, polypharmacy, risk of interactions).

The treatment of dementia should involve both pharmacological and nonpharmacological modalities (Jirák R, 2004, Lužný J, 2010). the effective treatment may lead to partial improvement of symptoms and may stop further deterioration of dementia at least for a time (Pidrman V, 2007, Lužný J, 2009, Lužný J, 2011).

Our study monitored the efficiency of nonpharmacological approaches in treating patient with mild and moderate dementia who have been hospitalized in Mental hospital Kroměříž.

Evaluation of the effectiveness of nonpharmacological approaches influencing cognitive functions which are used in practice in psychogeriatric ward in Mental hospital in Kromeriz and evaluation of satisfaction with these activities by hospitalized clients.

Cross-sectional study, done in November 2011.

Instruments: Mini-Mental State Examination (MMSE) and Clock Drawing Test (CDT).

At the end of hospitalization significant improvement in cognitive functions was observed in studied semple of patients.

Nonpharmacological approaches have important position in treatment of dementia, they assist in restoring cognitive functions, they help in patients self-esteem and activization.

Involuntary admission is a controversial issue with legislation varying from country to country.

Research on elderly individuals being involuntary admitted is limited.

Firstly at assessing whether involuntary admitted (IA) elderly individuals differ from voluntary admitted (VA) patients and secondly to assess whether IA should be treated in a different way.

40 IA were compared to 39 VA with regard to demographic data, DSM-IV diagnosis as well as behavioral issues recorded with the Patient Staff Conflict Checklist Shift Report (PSCCSR). all patients were aged 60 and over and were admitted in the psychiatric departments of four general hospitals in Athens. the study period was 12 months.

VA patients were more likely to be married, working and suffering from mood disorders, whilst IA patients presented with delirium. From the 20 items of the PSCCSR, differences were found only in two: IA presented more aggressive in the first few days of admission and VA had recent suicide attempt just before admission.

The patients’ characteristics as well as the psychiatric and nursing needs of VA and IA elderly individuals in an acute psychiatric ward do not differ. They tentatively support the argument that since IA and VA elderly psychiatric inpatients exhibit similar behaviour being kept under section for long periods is unwarranted.

Depression is the most common mental health problem among older people, posing a critical impact on their well-being and the quality of life.

To estimate the prevalence and under diagnosis of depression in elderly, and to investigate the association with various factors.

Data on 239 members of “day care centres for older people” in the municipality of Patras, W-Greece, were recorded, including questions regarding self-reported and/or diagnosed depression (EHIS). Furthermore, the Greek version of the Geriatric Depression Scale (GDS-15) was applied. the scores of GDS were compared to the corresponding EHIS answers and associated to various basic parameters.

The results of GDS indicated 45% having depression (36% moderate, 9% severe). Having ever been affected with chronic depression reported 49 (20.5%), out of them 34 (66.7%) were diagnosed by physician. in detail, out of the 162 (67.8%) subjects reporting never have been affected by depression, 37 (22.8) and 8 (4.9%) screened positive for moderate and severe depression, respectively. in 27 individuals who reported not to know if they have depression, 16 revealed depressive symptoms using the GDS. Depression is more frequent in women, in not married, including divorced and widowed, in subjects living alone at home (62% vs 38.1%, p = 0.003), and in elderly with chronic diseases (50.8% vs 27.5%, p = 0.02).

High prevalence of depressive symptoms in elderly population is evident, but rarely recognized. the systematic use of short GDS versions in primary care may increase detection rates of depression among the elderly.

The authors intend to review clinical features, epidemiology and management of bipolar disorder in elderly patients, and discuss the possibility of a sub-classification as late-onset bipolar disorder, concerning a clinical case.

Relevant literature was collected from PubMed database under keywords “bipolar disorder”, “late-onset”; “old age” and “age of onset”; the authors reviewed selected articles, publishing dates ranging from 1994 to 2011. Report of a clinical case of a 72 y.o. female patient without previous psychiatric history, admitted for the first time on psychiatric wards, for affective symptoms.

The clinical presentation initially led to the diagnosis of psychotic depression. After treated with antidepressant and atypical antipsychotic, the patient developed mania symptoms and is currently on mood stabilizer.

Although peak incidence of bipolar disorder is around 30 y.o., several studies have suggested a second peak of elderly-presenting cases. Data shows that the later have a greater proportion of medical comorbidities, especially neurological, and of cases with no familial history, which may suggest that these patients belong to a different aetiological sub-group.

Patients with bipolar disorder with onset at older age differ clinically from younger patients, probably due to different aetiological factors. When an elderly patient without previous history of psychiatric disease is admitted for first episode, late-onset bipolar disorder diagnosis must be considered, concerning therapeutic and prognostic implications.

Quality of life has specific meaning in psychiatry - it is not just a psychosocial cathegory, but it is an complex instrument which can definitely evaluate success of our treatment in a patient. in case of seniors with dementia wich is uncurable and progressive disorder in the most cases, estimating the quality of life could have a special importance.

To gain practical experience with using the questionnaire of quality of life WHOQoL-OLD in population of seniors with mild and moderate dementia and to determine possible correlation between quality of life and depressivity, autonomy and level of cognitive functions.

Cross-sectional study evaluating the quality of life in patients with mild or moderate dementia admitted to treatment in psychogeriatric department, Mental hospital Kroměříž. Instruments: WHOQoL OLD questionnaire, Geriatric Depression Scale, Barthel's test of activities of daily living, Mini - Mental State Examination.

The WHOQoL-OLD questionnaire of quality of life has proven good properties for its use in routine clinical practice in seniors with mild or moderate dementia. Statistically significant correlation was found between subjectively perceived quality of life and depressivity, autonomy, and cognitive functioning.

Finding the correlation between subjectively perceived quality of life and depressivity, autonomy, and cognitive functioning shows the possibilities how to influence the quality of life in patients with mild and moderate dementia in positive way - especially be means of good diagnostics and treatment of depression, early rehabilitation and treatment of cognitive disturbances.