(Micro)deletion/(Micro)duplication syndromes in one of the most common cause of intellectual disability in children, often in association with a sever phenotype. Introducing of new genetic techniques of molecular diagnosis, like array-CGH, allowed identification of new microdeletion/microduplication syndromes. This paper presents our experience regarding diagnosis and management of children with (micro)deletion/(micro)duplication syndromes.

250 children with mental retardation, selected using a diagnostic protocol based on personal and familial history, general and neurological examination, dysmorphologic and psychological assessment, specific paraclinical tests, were included in our study. in 130 children genetic investigations, including karyotype with GTG banding, FISH and array-CGH, were performed.

44 (micro)deletion/(micro)duplication syndromes were diagnosed: 16 cases with Williams syndrome, 10 cases with Angelman syndrome, 3 cases with Prader-Willi syndrome, 2 cases with Wolf-Hirschorn syndrome, 3 cases with cri-du-chat syndrome, and one from the following syndromes: DiGeorge, 1q deletion, 3p deletion, 3q duplication, 4p deletion, 8p deletion, 9p deletion, 12p duplication, Xp duplication, Xq duplication. the management of these children included physical therapy, speech therapy, behavioral therapy, the therapy of associated conditions (epilepsy, malformation etc.).

An early diagnosis of (micro)deletion/(micro)duplication syndromes is very important for a proper management of these conditions. New molecular genetics tests are useful for identification of some new or very rare anomalies.

Financial support: CNCSIS 1203 project, PNII 42130.

Angelman syndrome (AS) is a neurogenetic disorder caused by various 15q11–q13 abnormalities, characterized by severe mental retardation, speech delay, ataxia, happy disposition. in this paper we present our experience regarding the management of children with AS.

Our study included 9 children (5 boys and 4 girls) with AS, all with interstitial deletion of 15q11–13, with aged ranged between 6 months and 12 years. in all children we noted: clinical phenotype, epilepsy history (seizures onset, type of seizures, response to antiepileptic drugs), psychomotor development. all children have been followed up regarding epileptic seizures control and psychomotor development.

All patients presented the typical clinical pictures. the most frequent seizures were partial seizures, followed by atonic seizures and atypical absences. the EEG exhibited the characteristic AS pattern. Valproate was preferentially used anticonvulsant, in some cases in association with clonazepam, lamotrigine or levetiracetam. Corticotherapy was used in four cases, with good results; also, improvement of EEG abnormalities and a slight psychomotor amelioration was noted. 8 children are seizures free in present. all children made physical therapy and cognitive stimulation.

In our patients, the treatment of epileptic seizures was effective. Valproate was most effective, but association of other antiepileptic drugs was necessary in many cases. Corticotherapy had good effect, not only in controlling seizures, but also in improvement of psychomotor delay and EEG abnormalities. Physical therapy and cognitive stimulation were useful tools for the improvement of psychomotor development.

CNCSIS 1203 project, PN II 42–130 project.

Mental retardation is a condition characterized by limitations in intellectual and adaptive functioning. Impairments in cognitive and verbal skills may undermine the ability of a patient to clearly express the symptoms of his or her illness. Thus, when a psychiatric disorder coexists, the limited capacity of the individual to describe his or her internal state may lead to an erroneous diagnostic hypothesis.

A clinical case was followed and reviewed to illustrate the difficulties concerning the diagnosis of mental illness in patients with lower intelligence.

A 31 year old male was admitted in our acute psychiatric department with predominant auditory hallucinations. Prior to his admission, based on the assumption that he suffered from paranoid type schizophrenia, the patient had been treated by his private physician with heavy doses of antipsychotic medication, showing no clinical response. During his psychodiagnostic evaluation he underwent intelligence and personality testing, the former indicating mild mental retardation and the latter revealing no signs of psychotic symptoms. Careful clinical interviewing proved that his auditory hallucinations were in fact obsessive thoughts which he could not understand and describe as such due to his limited cognitive skills. Upon these, further investigation revealed typical obsessive compulsive behaviours which led us to a diagnosis of OCD. Following a proper adjustment in his medication and the initiation of psychotherapy, the patient showed marked improvement in his symptomatology.

Deficits in receptive and expressive language skills in people with mental retardation may obscure the diagnostic indicators of psychiatric disorders. Clinicians should be vigilant to adequatelly explore this area in their standard evaluation and modify the diagnostic assessment accordingly.

One of the main concerns regarding the care of patients with mental retardation is the management of behavioral disturbances.

This paper reports the results of a study in which an atypical antipsychotic (Quetiapine or Risperidone) was added to Valproate in the treatment of severe aggressive behavior in patients with mental retardation.

We followed 31 patients with mental retardation who, upon admission, presented with irritability and/or aggression, for a period of 6 months in order to assess the evolution of behavioral disturbances and the presence of treatment side-effects.

This is a naturalistic, prospective study. the inclusion criteria were the presence of mild, moderate or severe mental retardation associated with irritability and/or aggression. Two psychometric instruments were used - Overt Aggression Scale - Modified (OAS-M), the irritability and aggression subscales and Clinical Global Impression Scale (CGI). On the basis of severity of behavioral disturbances, two groups of patients were formed. Those with low scores were treated with Valproate and those with high scores were treated with both Valproate and an atypical antipsychotic (either Quetiapine or Risperidone).

Valproate monotherapy is an effective treatment for low intensity irritability and aggression. the association of Quetiapine or Risperidone with Valproate led to a marked improvement of severe aggression. This improvement was maintained for the duration of the study. Quetiapine determined a faster improvement of symptoms than Risperidone did.

Associating Quetiapine or Risperidone with Valproate is an effective and well tolerated means of controlling marked aggression in patients with mental retardation.

To reveal the peculiarities of the reflection of mental disorders in the motives of the offences of patients with mental retardation.

Clinico-psychopathological method of examination.

1 group - 40 patients with light and moderate mental disorders (acknowledged mentally disordered), 2 group - 60 patients with mild mental retardation (acknowledged limited by sane).

The motives of the patients in the first group reflected the difficulties in the understanding of the legal requirements, violations of the forecast of the consequences of their actions, the inner personal factors (weak ability to assert, a violation of the critical function), also took place suggestibility, increased subordination, propensity to impulsive actions. Analysis of criminal acts of 2 group revealed affectogenic motives arising in psychogenic-traumatic situations and situations requiring quick decision-making, personality traits (excitability, cumulation of negative painted experiences, the propensity for aggressive and violent conflict resolution, stiffness, weakness of will skills).

Criminality in patients with mental retardation is not rare. It has also many particularities. the aim of this study was to describe the socio-demographic and criminal characteristics in patients with mental retardation in order to identify preventive measures that could have been applied.

This is a retrospective and descriptive study including patients with mental retardation in forensic psychiatry in RAZI hospital after legal irresponsibility by reason of dementia as defined in the Tunisian Penal Code. the collection of informations was conducted using epidemiological Fact Sheet including socio-demographic, clinical and criminological data.

Our population had an average age of 29. Near the 2 / 3 of patients lived in urban or suburban areas. the socio-economic status was poor in more than 60% of cases. Most of our population was single and illiterate. One third had a history of seizures.

Mild mental retardation was present in more than half of cases. Crimes against property were most observed followed by the assault and homicide. Nearly half of the patients committed their crime within a group, without premeditation. Patients with a mild mental retardation committed more crimes against property while those with average or deep retardation did more crimes against persons. This difference is not statistically significant.

Identification of the socio-demographic, clinical and criminological profile of patients with mental retardation and determination of risk factors of violence allows a better care and prevention of violent conduct.

The concept of Quality of Life (QoL) has gradually acquired importance and interest. in its application and development it was able to represent an important and valuable conclusion for many a clinical trials. However, until now little research has been conducted toward evaluating QoL results in Intellectual Developmental Disorders (IDD).

Pharmacotherapy in IDD is mainly directed towards managing behavioral symptoms and psychiatric disorders, with limited relevance to QoL.

The purpose of this paper is to provide a critical review of the literature on the QoL as a new outcome measure on pharmacological research in IDD.

A review of the literature from the last 15 years was carried out and an article search was conducted using search engines available on Medline, EBSCO, Web of Science, Medmatrix, NHS Evidence and Cochrane Library. the main keywords that were used in the searches included the following: intellectual developmental disorders, autism, autism spectrum disorders, pervasive developmental disorders, mental retardation, intellectual disability, learning disability, developmental disorder, developmental disability, quality of life, psychopharmacology and psychopharmacotherapy. Afterwards the authors went through all of the articles to produce organisational criteria and comments.

A QoL measure on IDD certainly has clinical utility. Given that individuals with IDD are a highly vulnerable population and that the medications used to treat them could have serious side effects and important repercussions on daily practice, it seems imperative that their use be directed by empirically supported research that considers new person-centered outcome measures such as QoL.

To evaluate the effectiveness of NGAs, in particular olanzapine and risperidone, in treating aggressive behaviour in PWID for who previous medication with First Generation Antipsychotics (FGAs) were not effective.

62 subjects with intellectual disability underwent to a two-arm, parallel group pragmatic trial of olanzapine and risperidone with balanced randomisation and blind assessment of outcomes after a switch from a treatment with FGAs. Psychiatric disorders were evaluated by Diagnostic Assessment for the Severely Handicapped (DASH). Aggressive behaviour was assessed by Overt Aggression Scale (OAS) and clinical outcome by Clinical Global Impression (CGI) Scale. Side effects were assessed with specific scales, laboratory and instrumental tests.

Both risperidone and olanzapine resulted to be more effective than FGas in reducing aggressive behavior and in treating concurrent psychiatric disorders. the degree of improvement in our sample was very high for OAS and CGI scores. Both compounds resulted to be well tolerated, with side-effects similar to those encountered in other patient populations.

Our findings seem to confirm previous literature on that olanzapine and risperidone can be effective in reducing aggressive behaviour in PWID. Although NGas have shown greater efficacy and safety than FGAs, there is still a need for controlled trial and more methodically researches to confirm their benefit.

Psycogenic polydipsia is described as excessive water intake which is not appropirate to the homeostatic balance. We report a case of mild mental retardation with episodes of severe psychogenic polydipsia.

Prevalance of psycogenic polydipsia is %3,1 in mentally retarded patients (1). the case we present is unique because polydipsia is episodic, it is occuring after stressful life events and the patient has no comorbid psychotic or autism spectrum disorder.

We would like to inform about the good treatment response to olanzapine of this rare clinical phenomenon.

The patient who had first been referred to the internal medicine clinic for complaints of severe nausea, insomnia and fainting, was hospitalized in psychiatry department becuse of refusal to eat and vomiting. Details of the inpatient treatment, laboratory results and the follow up after hospitalization were analysed.

After the investigation, history of episodic polydipsia for 10 years is determined, with 3–4 episodes per year. He was drinking 25–30 lt of water a day during these episodes. all of the episodes were occuring after psychological stressors, including the death of his grandmother, grandfather and father.

Reactions of mentally retarded individuals to life stressors can be extremely different from normal. Olanzapine may be a treatment option in psychogenic polydipsia which is triggered with psychological stress.

Cisplatin treatment is associated with neurotoxicity and it is a limitation to effective anti-cancer treatment as it may lead to dose-reduction. Therefore, effective strategies to reduce the severity of neurotoxicity are intensively being searched for. Oxidative stress might play an important role here. Moreover, several antioxidants have been used successfully for prevention. Interestingly, mirtazapine may be one of promising agents for the avoidance of cisplatin-induced neurotoxicity via its less-known antioxidant properties.

We aimed to examine a possible protective effect of mirtazapine against the cisplatin-induced neurotoxicity in rat brains.

Eighteen rats were divided into 3 groups equally: A control group (CG), an untreated group (UG), and a treated group (TG). the TG was first given 30 mg/kg mirtazapine by gastric gavage while the others received solely distilled water. and then, 10 mg/kg cisplatin was injected intraperitoneally every day for 14 days to the animals in the UG and the TG while the rest of them were given only isotonic saline solution.

While tGSH and NO mean scores were found to be statistically higher in the TG when compared with the UG, MDA and MPO mean scores were statistically lower in the TG when compared with the UG. Similarly, there was a statistical difference both between the UG and the TG for 8-OH GUA.

These findings suggest that mirtazapine might be a cytoprotective agent and this might justify investigating whether cisplatin at the desired doses can be administered concurrently with mirtazapine in the absence of other considerations.

Fatty acids (FA) - mainly polyunsaturated of omega 3 or omega 6 typus- may influence a wide range of psychic processes. in major depression, deficiencies of polyunsaturated FA (PUFA) have already been reported. Though the prevalence of depression in elderly persons ranges up to 18%, especially serum FA profiles of seniors have not yet been investigated.

The present study aims to compare FA profiles of geriatric patients with depression and without clinical manifestation of neurodegenerative disorders on the one hand, and of mentally healthy elderly controls on the other hand.

Serum FA compositions were determined in 37 mentally healthy individuals (13 men, 24 women; 68.08 ± 4.94 years old) and in 36 patients with geriatric depression (8 men, 28 women; 72.67 ± 6.48 years old). the Body-mass index (BMI) was calculated for all study participants. Geriatric depression was diagnosed according to DSM-IV criteria for unipolar major depression (HAM depression score of patients was 18.13 ± 6.56).

Geriatric depressive patients had lower total Fas (p < .01), mainly lower eicosapentaenoic acid (p < .01) but higher proportions of oleic acid (p < .01) in serum than control persons. BMI did not differ between both groups.

In geriatric depression besides a lowering of total FAs, a decrease of eicosapentaenoic acid (omega 3) and an excess of oleic acid (monounsaturated) were detected. in further studies should be investigated, if these shifts observed in FA composition could be a useful instrument in distinguishing between geriatric depression and brain degenerative diseases.

Psychotic disorders such as schizophrenia and bipolar disorder are complex neuropsychiatric conditions of multifactorial etiology whose diagnosis is currently based solely on clinical interview methodology. Therefore, biomarkers which could improve the current classification and in perspective stratify patients on a biological basis into more homogeneous clinically distinct subgroups, are highly needed.

We describe here the preliminary data on the application of a protein profiling investigation for the identification of peripheral markers for psychotic disorders, based on a proteomic approach.

To identify serum protein biomarkers in patients with acute phase psychotic disorder compared with anxiety or depressive disorders with no history of psychosis.

Patients were sampled and evaluated by means of SCID-I, PANSS, YMRS, HAM-A, HAM-D.

Lymphocytes have been separeted and Two-Dimensional Electrophoresis (2-DE) was carried out on protein extracts. Analysis was performed using Progenesis Same Spot software.

2-DE showed significant differences in protein patterns between the two groups, in particular some protein spots are upregulated in a statistically significant manner and are under identification by mass spectrometry. PCA underlies a clear separation between the two groups, with a t1 value for the first component of 54%.

Preliminary analysis of a small sample shows significant differences in protein pattern between acute psychotic patients compared with non-psychotic psychiatric controls. Further work will widen the sample and will identify the single proteins.

S100B protein is an astroglial protein that can be measured in peripheral tissues such as blood, urine or saliva. S100B serum concentrations have been proposed as a maker of brain dysfunction. Body Mass Index (BMI) has been reported as a confounding variable in S100B measures.

44 healthy subjects (24 female and 20 male, age 39.7 ± 9.4) participated in the study. Blood was sampled in July at 09:00, 12:00 and 24:00 h. Blood was centrifuged and serum was aliquot in Eppendorf tubes and frozen at −70° C. Serum S100B was measured by ELISA. S100B serum data are reported as pg/ml.

There were no significant correlations between BMI and any of the three S100B measures (09:00 h. r = 0.150, p = 0.339, 12:00 h. r=0.041, p = 0.794, 24:00 h. r=0.192, p = 0.223).

Our results point to the fact that there are no relationships between BMI and S100B serum concentrations in healthy adult subjects.

Circadianity is a characteristic of several human biological variables, such as testosterone, melatonin and cortisol. There is little information whether or not S100B serum protein presents a circadian rhythm.

44 healthy subjects (24 female and 20 male, age 39.7 ± 9.4) participated in the study. Blood was sampled in July at 09:00, 12:00 and 24:00 h. Blood was centrifuged and serum was aliquot in Eppendorf tubes and frozen at −70° C. Serum S100B was measured by ELISA.

Serum S100B concentrations at 09:00 (56.3 ± 18.1 pg/ml), 12:00 (53.8 ± 23.1 pg/ml) and 24:00 h. (55.3 ± 20.3 pg/ml) were not significantly different.

Our results point to the absence of a circadian rhythm of S100B serum protein concentrations. the lack of the disadvantage may allow researchers on this area to sample subjects at any time of the day.

Our study has sought to correlate the QSAR analysis (quantitative structure-activity relationship) of SSRIs (Selective serotonin reuptake inhibitors) and their receptorial affinity with a serie of clinical cases of depression treated with SSRIs.

Through molecular modeling and analysis of quantitative structure-activity relationship (QSAR), we analyzed and compared the activity of serotonergic antidepressants - escitalopram, sertraline, fluoxetine, fluvoxamine, paroxetine and we have performed their hierarchy based on their theoretical antidepressant effectiveness.

Were constituted five lots of 50 patients with depression in order to determine the clinical efficacy of these antidepressants. Each of these groups received treatment with one of the five antidepressants. the initial distribution of patients was made based the severity of untreated depression, in each group being included in equal proportions of patients with severe, medium and middle depression. the Hamilton Depression Scale and Beck Depression Inventory were applied to the patients before the start of antidepressant treatment, at 2 weeks and 2 months after treatment.

The theoretical ranking aquired from molecular modeling and QSAR analysis was, in the order of increasing effectiveness of antidepressants, paroxetine, fluvoxamine, fluoxetine, sertraline, escitalopram, while the practice ranking has been: fluvoxamine, fluoxetine, sertraline, paroxetine and escitalopram.

Our clinical study has not fully confirmed the theoretical prediction, so that we consider the improvement of theoretical models of molecular simulation, including exploring the interaction of antidepressants with ions (sodium, potassium, magnesium, calcium).

OPN4 (Melanopsin) is extravisual opsinreceptor sensing light outside of visual system. Earlier literature has described OPN4 in entraining circadian rhythms via retinohypothalamic track in human brain.

To investigate whether OPN4 protein is present also outside the retinohypothalamic track.

To study the distribution on OPN4 protein in functionally central areas of human brain.

The localization of OPN4 protein in human brain and peripheral tissues was assessed by immunohistochemical staining using polyclonal antibody against OPN4. OPN4 protein content was measured using Western blotting and SDS-PAGE. the samples from altogether nine cadavers were assessed during forensic examination and their tissues prepared. Samples were cut into sections and stained with fluorescent dye labeled antibody before confocal laser scanning microscopy. the specificity of labeling and immununoreaction was verified by primary antibody omitting and immunizing peptide blocking.

We found OPN4 protein abundant in Human brain, but not in periphery or in negative controls. Neuronal OPN4 was present in granular pattern intracellularly altogether in all eighteen examined sites, including numerous cerebral cortical areas, cerebellar cortex and several nuclei in phylogenetically old regions. Immunoreaction expressed mostly in neuronal soma, but not in nuclei.

Previously OPN4 has been known to be present only in non-image forming visual system mediating circadian timing properties of light to the pacemaker (Zeitgeber). However, our findings of abundant presense of OPN4 protein in neurons of human brain call further studies of effects on direct photic stimuli to brain.

It is known that oxidative stress plays an important role in the pathogenesis of psychiatric disorders, setting the stage for an intense generation of free radicals that damage lipids, proteins and structures of cell membranes of neurons that are sensitive to oxidative stress. First of all damage proteins that form carbonyl derivatives.

There was conducted comparative analysis of oxidative stress in terms of carbonyl derivatives (the level of spontaneous oxidation of blood plasma proteins on the level of carbonyl derivatives) in patients with schizophrenia and alcoholic psychiatric disorders, and in the control group.

To study the severity of oxidative stress in terms of carbonyl derivatives in schizophrenia and alcoholic psychiatric disorders.

3 groups of men on 50 patients aged 18 to 46 years: schizophrenia, alcohol psychiatric disorders, the control group - mentally and somatically healthy donors. Venous blood plasma, taken in the morning on an empty stomach.

The clinical-anamnestic, psychopathological, psychometric, biochemical, spectrophotometry and nonparametric statistical methods.

Revealed, a statistically significant difference in the level of carbonyl derivatives among all groups relative to each other (control group 0,1886 ± 0,0352, schizophrenia group 0,6832 ± 0,0887, alcoholic disorders group 1,6181 ± 0,1968), its correlation with the factors of flow of psychopathological processes and differences depending on the severity of clinical psychopathology.

Determination of the severity of oxidative stress in level of carbonyl derivatives allows to use this index as an additional differential-diagnostic and prognostic test in the diagnosis of mental disorders, assessing the quality of the therapy.