[Neuroanatomical, genetic and neurochemical aspects of infantile autism]. / Neuroanatomiczne, genetyczne i neurochemiczne aspekty autyzmu dzieciecego.

Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism.

Polymorphisms of the 5-HT2A receptor gene and clinical response to olanzapine in paranoid schizophrenia.

BACKGROUND: 5-HT2A receptor is strongly implicated in the mode of action of atypical antipsychotic drugs. The aim of the study was to investigate whether the 5-HT2A receptor gene's polymorphisms (His452Tyr and T102C) have an influence on the response to olanzapine in patients with schizophrenia. METHODS: We studied 99 Caucasian schizophrenia patients treated with olanzapine. Psychopathology was measured before and after 6 weeks of treatment. Clinical improvement was quantified as change in Positive and Negative Syndrome Scale (PANSS) total scores and subscores as shown by percentage improvement below the baseline score. The clinical response to antipsychotic treatment was defined as 30% improvement from baseline in PANSS scores. RESULTS: The His/Tyr polymorphism was significantly associated with a percentage improvement in PANSS positive symptom subscore (better response in His/His homozygotes; p<0.05) after treatment with olanzapine. As for the T102C polymorphism, a better response in terms of PANSS positive subscore improvement was observed for C/C homozygotes (p<0.01). A significant association of 5-HT2A genotype distribution of the T102C polymorphism with a categorical measure of response, but only in terms of PANSS positive symptom subscores, was observed (p<0.01). CONCLUSIONS: Variations in the 5-HT2A receptor gene may influence individual and particularly positive symptom response to olanzapine.

Culture and the prevalence of hallucinations in schizophrenia.

OBJECTIVE: Besides demographic, clinical, familial, and biographical factors, culture and ethnicity may plausibly influence the manifestation of hallucinations. The purpose of this study was to investigate the influence of culture on the frequency of different kinds of hallucinations in schizophrenia. METHOD: Patients with a clinical diagnosis of schizophrenia were diagnosed by means of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria. Seven independent samples were consecutively recruited in Austria, Lithuania, Poland, Georgia, Ghana, Nigeria, and Pakistan using identical inclusion/exclusion criteria and assessment procedures (N = 1080 patients total). The association of key demographic factors (sex and age), clinical factors (age at onset and duration of illness), and country of origin with hallucinations of different kinds was examined. RESULTS: The prevalence of various kinds of hallucinations was substantially different in the samples; however, the rank order of their occurrence was similar. Auditory hallucinations were relatively infrequent in Austria and Georgia and more prevalent in patients with an early age at onset of disease. Visual hallucinations were more frequently reported by the West African patients compared with subjects from the other 5 countries. Cenesthetic hallucinations were most prevalent in Ghana and in patients with a long duration of illness. CONCLUSION: We hypothesize that the prevalence of the different kinds of hallucinations in schizophrenia is the result of the interaction of a variety of factors like cultural patterns as well as clinical parameters. According to our study, culture seems to play a decisive role and should be taken into account to a greater extent in considerations concerning the pathogenesis of psychotic symptoms.

[Antipsychotic-induced weight gain--pharmacogenetic studies]. / Badania nad farmakogenetycznymi uwarunkowaniami przyrostu masy ciala po stosowaniu leków przeciwpsychotycznych.

Drug-naive patients with schizophrenia often present metabolic abnormalities and obesity. Weight gain may be the side effect of treatment with many antipsychotic drugs. Genetic effects, besides many other factors, are known to influence obesity in patients with schizophrenia treated with antipsychotics. Numerous studies of several genes' polymorphisms have been performed. -759C/T polymorphism of 5HT2C gene attracted most attention. In 5 independent studies of this polymorphism the association between T allele with the lower AP-induced weight gain was detected. No associations could be detected between weight gain and other polymorphisms of serotonergic system genes as well as histaminergic system genes. Studies of adrenergic and dopaminergic system have neither produced any unambiguous results. Analysis of the newest candidate genes (SAP-25, leptin gene) confirmed the role of genetic factors in AP-induced weight gain. It is worth emphasising, that the studies have been conducted in relatively small and heterogenic groups and that various treatment strategies were used.

[Atypical antipsychotic-induced weight gain]. / Przyrost masy ciala spowodowany dzialaniem atypowych leków przeciwpsychotycznych.

Introduction of a new group of antipsychotic drugs, called atypical because of the proprieties differing them from classical neuroleptics, gave hope for the beginning of a new era in treatment of psychoses, including schizophrenia. Different mechanisms of action not only resulted in a broader spectrum of action and high efficacy but also in a relative lack of extrapiramidal symptoms. However, atypical neuroleptics are not totally free from adverse effects. Symptoms such as sedation, metabolic changes and weight gain, often very quick and severe - present also in the case of classical drugs, but put to the background by extrapiramidal symptoms--have become prominent. Weight gain is important both from the clinical and subjective point of view--as associated with serious somatic consequences and as a source of enormous mental distress. These problems are addressed in this review, with the focus on weight gain associated with the use of specific atypical neuroleptics.

Bipolar affective disorder in a male with a deletion of Y chromosome -- a case report.

We report on a 25-year-old male with bipolar disorder, dysmorphic features and a deletion of the long arm of Y chromosome. A potential association between sex chromosome abnormalities and a susceptibility to major psychiatric disorders has been documented. However there have been very few reports on the coincidence of Y chromosome aberrations with bipolar disorder. Cytogenetic studies have contributed to the identification of several disease genes. Karyotyping of patients with bipolar disorder in order to identify candidate regions for linkage studies has been recommended.