No abstract

The 22q11.2 deletion syndrome (22q11DS) is caused by an autosomal dominant microdeletion of chromosome 22 at the long arm (q) 11.2 band. The 22q11DS is among the most clinically variable syndromes, with more than 180 features related with the deletion, and is associated with an increased risk of psychiatric disorders, accounting for up to 1%–2% of schizophrenia cases. In recent years, several genes located on chromosome 22q11 have been linked to schizophrenia, including those encoding catechol-O-methyltransferase and proline dehydrogenase, and the interaction between these and other candidate genes in the deleted region is an important area of research. It has been suggested that haploinsufficiency of some genes within the 22q11.2 region may contribute to the characteristic psychiatric phenotype and cognitive functioning of schizophrenia. Moreover, an extensive literature on neuroimaging shows reductions of the volumes of both gray and white matter, and these findings suggest that this reduction may be predictive of increased risk of prodromal psychotic symptoms in 22q11DS patients. Experimental and standardized cognitive assessments alongside neuroimaging may be important to identify one or more endophenotypes of schizophrenia, as well as a predictive prodrome that can be preventively treated during childhood and adolescence. In this review, we summarize recent data about the 22q11DS, in particular those addressing the neuropsychiatric and cognitive phenotypes associated with the deletion, underlining the recent advances in the studies about the genetic architecture of the syndrome.

No abstract

BackgroundSchizotypy, or the set of personality traits related to schizophrenia, is considered an endophenotypic manifestation that is more represented in first-degree relatives of patients with schizophrenia than in the general population. The assessment of schizotypy is primarily based on self-reports, and for this reason it presents several limitations. In order to assess schizotypy, this study proposes a diagnostic instrument based on clinical reports.MethodsA sample of 66 subjects, composed of 25 outpatients with schizophrenia, 18 siblings of these patients and 23 healthy controls, was subjected to the personality assessment test SWAP-200 by trained clinical interviewers. To test the hypothesis of the difference between the profiles of the Personality Disorders within the schizophrenia spectrum, a Multivariate Analysis of Variance and subsequent planned comparisons were conducted.ResultsPatients with schizophrenia scored higher than both their siblings and the controls on all SWAP-200 scales; their siblings, compared to the healthy controls, showed significant statistical differences, with higher mean scores for paranoid (F(1,63) = 7.02; p = 0.01), schizoid (F(1,63) = 6.56; p = 0.013) and schizotypal (F(1,63) = 6.47; p = 0.013) traits (PD T scores of Cluster A and Q-factor scores for the schizoid scale [F(1,63) = 6.47; p = 0.013]).ConclusionsConsistent with previous data, first-degree relatives of patients with schizophrenia scored higher on schizophrenia-related personality traits than a general population comparison sample. SWAP-200, as an alternative diagnostic instrument to self-report measures, is able to reveal the higher prevalence of schizotypal traits in siblings of patients with schizophrenia, suggesting its possible use as a complementary instrument for the assessment of schizophrenia.

L'obiettivo principale di questo studio, randomizzato e controllato, č stato quello di verificare la validitŕ di un intervento di ipnoterapia ultra breve composta da una-tre sedute ipnotiche, specificamente designata al trattamento di patologie che rientrano nei criteri DSM IV previsti per il Disturbo di Conversione. I risultati ottenuti da un gruppo di controllo, composto da 11 pazienti, avviato all'usuale trattamento medico-psichiatrico di supporto sono stati confrontati con quelli ricavati da un gruppo di 12 pazienti assegnati al nostro protocollo. Tutti i pazienti sono stati valutati prima di iniziare i trattamenti (T0) e a distanza di dodici mesi (T1) mediante l'impiego delle seguenti scale di valutazione: Toronto Alexithymia Scale, Somatoform Dissociation Questionnaire, Symptom Check List -90, Illness Behaviour Inventory, Disability Scale, Clinical Global Impressions e la Scala di Valutazione Globale del Funzionamento. Al follow-up, i pazienti afferenti al nostro protocollo hanno dimostrato un miglioramento statisticamente significativo, non soltanto della sintomatologia, ma anche del profilo psicopatologico registrato mentre il gruppo di controllo ha mostrato una pressoché totale assenza di cambiamenti nello stesso periodo. In conclusione, il protocollo ipnotico ultrabreve sembra essere un intervento efficace e specifico, in particolare se adeguatamente programmato e adattato alle caratteristiche del paziente.