Stavroula Beratis

Mutation screening of the Wolfram syndrome gene in psychiatric patients

Wolfram syndrome, a rare autosomal recessive neurodegenerative disorder, was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. It was later demonstrated that Wolfram syndrome patients were highly prone to psychiatric disorders. Mutations in exon 8 of the Wolfram syndrome gene account for 88% of the patients with Wolfram syndrome. To examine whether the gene responsible for causing Wolfram syndrome is involved in psychiatric disorders, we screened exon 8 of the Wolfram syndrome gene for mutations in 119 patients with schizophrenia, one patient with schizoaffective disorder, 12 patients with bipolar disorder and 15 patients with major depression, using sequence analysis. In Wolfram syndrome patients, this gene has been shown to have primarily nonsense or frameshift mutations, which would result in a premature truncation of the protein. None of the psychiatric patients screened in this study carried these types of mutations. We identified, however, 24 new variations whose significance remains to be determined.

Smoking among suicide attempters

One hundred suicide attempters, 100 matched controls, and 60 psychiatric controls with the same psychiatric disorders as diagnosed in the corresponding attempters were investigated. Significantly more female attempters were smokers when compared with the controls, whereas there was no difference among the males. Consumption of at least 40 and at least 50 cigarettes per day was significantly more frequent in female and male attempters, respectively, than in the controls. Also, the mean number of cigarettes smoked was significantly greater for the attempter versus the controls, particularly among females. Female attempters without a psychiatric disorder smoked more frequently than the corresponding controls. Likewise, female attempters with psychiatric disorders smoked more frequently than the psychiatric controls. The etiology of the relationship between smoking and suicide attempts remains uncertain.

Psychosocial status in pre-adolescent children with β-thalassaemia

Abstract Psychiatric disorders and social profile were investigated in 57 children with β-thalassaemia and 57 control subjects. Although there was no significant difference in the number of individuals with psychiatric disorders between the two groups, the number of psychiatric disorders observed in the group of patients was significantly greater than in the control subjects ( p p p p = 0.0005). This behavior was related to ODD. Also, thalassaemic patients with ODD showed a significantly higher serum ferritin level than thalassaemics without ODD ( p

Noncompliance with iron chelation therapy in patients with β thalassaemia

Abstract Twenty-three percent of patients with β thalassaemia were found noncompliant to iron chelation. Excluding separation anxiety disorder and primary functional enuresis, the frequency of psychiatric disorders in the noncompliant and the compliant patients was 68% and 10%, respectively. Oppositional disorder was the most frequent psychiatric disorder; it was also associated with the most profound deviation from compliance. Separation anxiety disorder and primary functional enuresis were not associated with noncompliance. In one-third of the noncompliant patients no psychiatric disorder was identified. School performance was poorer in the noncompliant patients. The presence of psychiatric disorders (mainly oppositional disorder), other than separation anxiety disorder and primary functional enuresis, in thalassaemic patients is a risk factor for noncompliance to treatment. Early identification of noncompliance and appropriate psychiatric intervention may help these patients to become compliant with medical treatment.

Suicidality in the "prodromal" phase of schizophrenia.

OBJECTIVES Patients with schizophrenia are at high risk for suicide ideation, attempts, and completed suicide. However, suicidal behavior during the prodromal phase of schizophrenia and a possible association between prodromal suicidal behavior and suicidality after the onset of overt psychosis are not studied. METHODS One hundred six consecutively admitted schizophrenia patients with recent onset were evaluated retrospectively for prodromal symptoms and suicidality during the prodromal phase and after the onset of frank psychosis. In addition, 106 matched control subjects from the general population were evaluated for suicidality during the same age period of the prodromal phase of the corresponding patient. RESULTS Suicide ideation and attempt during the prodromal period were reported in 25.5% and 7.5% of the patients, which are 3.8- and 8-fold greater than in the controls, respectively. Patients with suicidal behavior experienced a greater number of prodromal symptoms than those without. Prodromal depressive mood, marked impairment in role functioning, and tobacco smoking exerted an independent effect on suicide ideation, whereas depressive mood was the symptom significantly more frequent in patients with suicide attempt. Suicide attempts were associated with an earlier onset of prodromal symptoms and frank psychosis. All patients with prodromal suicide attempts were cigarette smokers. Suicide ideation during the prodromal phase was strongly associated with lifetime suicidality after the onset of frank psychosis. CONCLUSIONS Suicidal behavior is quite common during the prodromal period. The association of smoking, depressive mood, impaired functioning, and a large number of prodromal symptoms, particularly in patients with an early onset of symptomatology, carries a substantially increased risk for suicide ideation. Particular care is needed in patients with prodromal suicide ideation after the onset of frank psychosis because the risk to attempt suicide is high.

Gender differences in the frequency of schizophrenic subtypes in unselected hospitalized patients

The phenotypic expression of the subtypes of schizophrenic disorders was studied in relationship to their relative frequency and the gender composition within each subtype using 374 successive DSM-III-R diagnosed schizophrenic patients. Two hundred and twenty-six of them were first admissions to a hospital. They were all diagnosed independently by three reviewers. While in the paranoid, the undifferentiated and the disorganized subtypes there was no significant difference between men and women, in the residual and the catatonic subtypes the frequency of men was more than three times greater than that of women. Among the 226 first admissions the frequency of the residual subtype was significantly lower than in the multiple admissions. The preponderance of male schizophrenic patients within the residual subtype indicates that they end up into this subtype, more frequently than women schizophrenic patients, whereas the greater preponderance of men in the catatonic subtype appears to reflect an intrinsic characteristic of this subtype.

Prenatal tobacco smoke exposure, risk of schizophrenia, and severity of positive/negative symptoms

Prenatal exposure to cigarette smoke causes chronic fetal hypoxia, dysregulation of endocrine equilibrium, and disruption of fetal neurodevelopment associated with brain malfunction, all of which potentially could induce vulnerability to schizophrenia. A total of 212 schizophrenia patients aged 14-30years, and 212 matched controls were studied. Prenatal tobacco smoke exposure of the schizophrenia patients was compared to that of the normal controls by applying logistic regression analysis and controlling for several confounding factors. The outcomes of interest were comparison of the frequency of maternal and paternal smoking between patients and controls, as well as the severity of positive and negative symptoms between the offspring of smoking and nonsmoking parents. Among the mothers of schizophrenia patients and controls, 92 (43.4%) and 46 (21.7%) smoked, respectively. Maternal smoking during pregnancy had a significant unique contribution on increasing the risk for development of schizophrenia (p=0.001), and a greater severity of negative symptoms (p=0.023). Paternal smoking did not have a significant effect on the risk of schizophrenia, or severity of negative symptoms. The findings suggest that maternal smoking during pregnancy puts offspring at an increased risk for later schizophrenia, with increased severity of negative symptoms. Given the wide practice of smoking during pregnancy, fetal exposure to tobacco smoke could be a major preventable neurodevelopmental factor that increases vulnerability to schizophrenia.

Cortical motor neurophysiology of patients with schizophrenia: A study using transcranial magnetic stimulation

Trancranial magnetic stimulation (TMS) provides a non-invasive means for exploring physiological alterations of central motor control in a variety of neuropsychiatric diseases. The present study aimed to assess the neurophysiological profile of muscle evoked responses to a standard TMS procedure in 51 medicated patients with schizophrenia and 51 age- and sex-matched healthy subjects. Motor evoked potentials (MEPs) from the abductor pollicis brevis muscle were elicited by stimulation of the contralateral motor cortex with a circular coil. The hot spot was marked, and the resting motor threshold (RMTh), the stimulus intensity for maximum MEP (SI-max), the post-stimulus silent period of voluntary muscle activity, and MEP latency and amplitude were measured. The main findings were the significantly higher than normal values for RMTh and SI-max, which are both indices of neuronal excitability. In particular, patients who had ziprasidone in their therapeutic regimen demonstrated the highest SI-max for both hemispheres, and the highest RMTh for the left hemisphere, patients receiving olanzapine demonstrated the lowest RMTh for the left hemisphere, and those on quetiapine showed intermediate values. The silent period was longer in the patients than in the controls when a RMTh-related SI was used and did not differ between the two groups when a fixed SI was used. We concluded that the observed TMS changes could be interpreted as primary alterations of intracortical motor excitability followed by defects of cortical inhibition and should be attributed to schizophrenia, antipsychotic medication or the interaction between the two factors.

Angiokeratoma corporis diffusum in GM1 gangliosidosis, Type 1

A patient with severe deficiency of β‐galactosidase, who developed skin lesions of angiokeratoma corporis diffusum between the 3rd and 10th month of life, is described. The activity of other lysosomal enzymes, including α‐neuraminidase, was normal. The first signs of the disease were noticed during the first month of life. By 3 months coarseness of the face and psychomotor retardation were present. In addition to angiokeratoma, he had large mongolian spots and several scattered slate‐blue spots of pigmentation over his body. With the exception of the skin lesions, the other clinical signs and the course of the psychomotor deterioration were within the clinical picture of GM1, gangliosidosis, Type 1.

Nicotine, caffeine and alcohol use in high- and low-dose benzodiazepine users

Cigarette smoking, coffee and alcohol use were investigated prospectively in 37 high-dose benzodiazepine (BZD) regular users (HDRU), 87 low-dose BZD regular users (LDRU), 50 low-dose BZD occasional users (LDOU) and in 37 non-BZD users (control subjects). The frequency of smokers was significantly greater in the HDRU than in the other three groups studied. Also, the HDRU consumed a significantly greater number of cigarettes and dose of caffeine per day than the other subjects investigated. Also, alcohol dependence was significantly more frequent in the HDRU. Regression analysis showed a significant positive correlation between the BZD dose and both the cigarettes and the caffeine consumed per day. The findings suggest that BZD should be prescribed with caution in individuals who are heavy smokers or are consuming large amounts of coffee and alcohol.