Bojan Zalar

Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs.

Objectives The adult type of metachromatic leukodystrophy can manifest itself as motor or as psycho-cognitive form, the latter is very similar to schizophrenia. We report on two sisters with adult metachromatic leukodystrophy who display symptoms of both forms. Methods Presented are genotype analyses and 4-year follow-up data regarding clinical manifestations as well as neurocognitive and neuroimaging results for two adult sisters with metachromatic leukodystrophy. Results Whereas the younger sister developed disorganized schizophrenia-like symptoms, the other exhibited schizophrenia-like, negative symptoms. In both sisters, neurological signs were already present at the onset of the disease and progression towards dementia was documented within 1–2 years. In peripheral leukocytes, the activity of arylsulphatase A was reduced to 2 and 5% of the mean normal activity in both women. Genotype analysis revealed compound heterozygosity for a known severe splice site mutation, (c.459+1G>A) together with two known polymorphisms, [(c.937G>T), (p.Trp193Asp)] and [(c.1530C>G), (p.Thr391Ser)], and a novel missense mutation, (c.1194C>T). The latter results in the exchange of a conserved polar amino acid, threonine 279, to hydrophobic isoleucine (Thr279Ileu), which could not be found among >100 control alleles. A family analysis identified T279I as the paternal allele, whereas (c.459+1G>A) as well as the two polymorphisms were inherited from the mother. This is consistent with a disease-causing effect of the novel mutation. Conclusions The novel mutation, T279I detected in our patients, correlates with a specific phenotype with schizophrenia-like symptoms, neurological signs and cognitive impairment early in the course of the disease and a relatively fast progression towards dementia. This is in contrast to previous reports on adult metachromatic leukodystrophy patients with the psycho-cognitive phenotype who did not show any neurological signs for decades, however, most of these patients were heterozygous for another specific missense mutation, I179S.

Trait Aggression and Hostility in Recovered Alcoholics

There is a long-recognized association between alcohol consumption and aggressive behavior. This study was designed to examine aggression in a group of socially well-adapted recovered alcoholics (RA). The question addressed was whether the treatment, together with long-term abstinence from alcohol, could reduce aggression and hostility in RA. A group of male RA (n = 64), who did not meet the DSM-IV criteria for any psychiatric or personality disorder, were recruited to the study from aftercare groups. According to data from their group therapists, they were reliably abstinent for at least 3 years and socially well adapted. The study participants representing the control group (n = 69), diagnosed as being ‘reliable nonalcoholics’ (NA) by the Munich Alcoholism Test, were recruited from general practice. Data were derived from an in-house questionnaire on general characteristics of both groups, and aggressive and hostility traits were assessed using the Buss-Durkee Hostility Inventory (BDHI). The univariate and multivariate between-groups design was used for data analysis. Taking into account the BDHI dimensions of aggression and hostility, the difference between RA and NA groups was statistically significant [Wilks’ lambda (8, 125) = 0.769; p = 0.00004]. There were statistically significant differences in the BDHI scales for indirect aggression, irritability, negativism, suspicion, resentment, and guilt. Both RA and Na groups did not differ significantly in variables that assessed physical and verbal aggression. After a 3-year abstinence, subjects from the RA group displayed signs of hostility and covert aggression.

Community Rehabilitation Service for Patients with Severe Psychotic Disorders: The Slovene Experience

Background: Rehabilitation can be carried out at various sites. Method: Two groups of patients with severe mental disorders were compared: those included in community rehabilitation service and those only attending an outpatient clinic regarding their clinical status, social functioning, standard of living and quality of life. Results: We found no significant global differences in group characteristics, social functioning and clinical status, but we did prove the lower social status of the group included in the rehabilitation service and their satisfaction with the services they use. Conclusions: The community rehabilitation services in Slovenia are coping with existential social needs of their users but this study failed to demonstrate their success in improving health or social functioning.

Measurement of simple reaction time in antipsychotic treatment of patients with schizophrenia

ZusammenfassungHintergrundDie Rolle der einfachen Reaktionszeit wurde in der Fachliteratur umfangreich diskutiert. Zahlreiche Studien untersuchen die basische Reaktionszeit unter statischen Bedingungen, die sich auf eine Messung beziehen. Das Ziel der vorgelegten Studie war festzustellen, ob sich die einfache Reaktionszeit bei hospitalisierten Patienten mit einer schizophrenen Störung unter Behandlung mit Risperidone oder Olanzapine verändert.MethodenAn der achtwöchigen doppelblinden Pilotstudie nahmen 17 hospitalisierte Patienten mit akuter Exazerbation einer schizophrenen Störung (nach DSM IV Kriterien) und 20 gesunde Kontrollen teil. In der ersten Woche wurden die Patienten mit klassischen Antipsychotika behandelt. In der Folge wurden die Patienten in zwei Gruppen randomisiert und entweder mit Risperidone 4 mg/täglich oder Olanzapine 10 mg/täglich in konstanter Dosierung während der ersten Woche und in flexibilen Dosierungen während der restlichen sieben Wochen weiterbehandelt. Da keine Unterschiede zwischen den Reaktionszeiten bei mit Risperidone oder Olanzapine behandelten Patienten gefunden wurden, wurden beide Therapiegruppen in der statistischen Analyse vereint und mit der gesunden Kontrollgruppe verglichen. Psychopathologische Symptome wurden anhand von Positive and Negative Scale (PANSS) bewertet und extrapyramide Symptome anhand der Simpson Angus Scale und Abnormal Involuntary Movement Scale. Die Reaktionszeit wurde mit dem an einen Computer angeschlossenen Alpha Apparat ermittelt. Alle Bewertungen und messungen wurden während der medikamentösen Therapie viermal durchgeführt.ErgebnisseDie Reaktionszeit der Patienten war statistisch gesehen wesentlich länger als jene der gesunden Kontrollen (t1=17,11; p1<0,05). Nach acht Wochen der Behandlung verbesserte sich die Reaktionszeit der Patienten wesentlich, doch sie erreichte das Niveau der gesunden Kontrollen nicht (t4=28,18, p4<0,05). Die kürzere Reaktionszeit korrelierte weder mit der Verbesserung psychopathologischer Symptome noch mit der Verbesserung von extrapyramidalen Symptomen.SchlussfolgerungDie Ergebnisse der vorliegenden Studie weisen darauf hin, dass sich die einfache Reaktionszeit durch die Behandlung mit atypischen Antipsychotika verbessern kann.SummaryBackgroundThe role of simple reaction time in schizophrenia has been extensively reported to date in professional literature. However, most studies have examined basic reaction time under static conditions using a single measurement. The aim of the present study was to establish whether any changes occur in simple reaction time during treatment with risperidone or olanzapine in in-patients suffering a relapse of schizophrenia.MethodsSeventeen in-patients suffering acute relapse of schizophrenia (DSM IV criteria) and twenty matched, healthy controls participated in an eight-week, double-blind pilot study. The patients were treated with conventional antipsychotics for seven days after admission and were then randomised to the treatment arms with risperidone (4 mg/day) or with olanzapine (10 mg/day) at a fixed dosage in the first week and thereafter in flexible dosages for the remaining seven weeks. Since no differences were found between reaction times of patients treated with risperidone or olanzapine, the two treatment groups were merged in the statistical analysis before being compared with the normal controls. Psychopathological symptoms were assessed using the Positive and Negative Symptom Scale (PANSS) and extrapyramidal symptoms with the Simpson Angus Scale and Abnormal Involuntary Movement Scale. Reaction time was measured with the Alpha apparatus, connected to a personal computer. All assessments and measurements were conducted four times during the treatment phase of the study.ResultsThe reaction time of patients was significantly longer than that of the healthy controls (t1=17.11; p1<0.05). After eight weeks of treatment the reaction time of patients significantly improved but did not reach that of the healthy controls (t4=28.18, p4<0.05). Furthermore, the improved reaction time in the patients did not correlate with improvement of psychopathological symptoms or with improved extrapyramidal symptoms.ConclusionThe results of the study suggest that simple reaction time can improve during treatment with atypical antipsychotics.

Malignant catatonia/neuroleptic malignant syndrome or how to change the view on ECT.

To the Editor: We present a patient with 2 outbursts of catatonia that transformed into malignant catatonia/neuroleptic malignant syndrome (NMS) on both occasions. Electroconvulsive therapy (ECT), which would be indicated in this situation, was not performed. A 37-year-old male with an acute psychotic disorder was first admitted to a military psychiatric hospital when he was 20 years old. His medical records remain inaccessible. After the discharge, he continued treatment with fluphenazine decanoate for 6 years when his behavior suddenly became bizarre and negativistic. He was frightened, attacked his mother, and tried to jump through the window under the influence of persecutory delusions. Upon admission to a psychiatric hospital, he exhibited symptoms included mutism, extreme negativism, echopraxia, persecutory delusions and delusions of reference, periods of catatonia excitement, and stupor. Haloperidol, levopromazine, and diazepam were administered for a few days when his body temperature rose up to 39.8(C with no muscle rigidity; liver enzymes, sodium, creatinine phosphokinase and Creactive protein plasma levels were increased and urine retention and bronchopneumonia occurred. Antipsychotics were discontinued and phenobarbitone was given. A week later his medical condition improved, and he started to communicate with no signs of catatonia, although he was still delusional. Haloperidol was administered in low doses and after 4 months, the patient was discharged in remission. He received fluphenazine decanoate and worked as a secretary for the next 12 years when the depot treatment was discontinued. Two weeks later he became severely agitated, was locking himself in his room, and was afraid of relatives. After readmission treatment with olanzapine, lorazepam, diazepam, and haloperidol yielded no response. This catatonic episode was practically identical to the previous one, including the severely deteriorated condition that now required treatment in the intensive care unit. After 14 days of treatment with lorazepam, all his symptoms began to improve. In remission, he was discharged 2 months later on olanzapine. Nosologic confusion regarding catatonia, malignant catatonia, and NMS still exists. NMS is indistinguishable from malignant catatonia. Dehydration and motor signs of catatonia are harbingers of malignant catatonia with antipsychotic drugs. In our case antipsychotics and deterioration of general condition were probably risk factors for turning simple catatonia into malignant catatonia/NMS. Catatonia has a good prognosis with benzodiazepines and with ECT as a first-line treatment. In our patient, benzodiazepines were not sufficiently effective, and ECT treatment was indicated. However, in Slovenia the use of ECT was discouraged and forbidden 13 years ago, mostly because of pressure from the media. No evidence-based data have yet created enough of an incentive for the experts to overcome this narrowmindedness. Hence, for a great number of patients, including our patient, that could benefit from ECT, this form of treatment remains unattainable.

STIGMA OF MENTAL ILLNESS: COMPARISON OF PATIENTS’ ANDSTUDENTS’ ATTITUDES IN SLOVENIA

BACKGROUND It is known that the consequences of stigmatization towards people with severe mentalillness reflect themselves in a lack of self-esteem and consequently in low level of initiativesto improve one’s status in the community. The burden of stigma may cause denial of participation in the stigmatized group. So far, there were few studies to compare the mentally illpatients’ perception of the »other« mentally ill with the perception of future professionals inmental health services. METHODS We have compared stigmatizing attitudes of students with attitudes of patients with severemental illness. RESULTS The patients expressed higher stigmatization scores towards people with severe mentalillness than the students. CONCLUSIONS Negative attitudes of patients with severe mental illness towards their own group presenta serious problem. Actions are needed to improve their identification and reduce theperceived need for exclusion from their group

Gender differences among adolescent suicide attempters and nonattempters.

The study investigated whether differences in known suicide risk factors between girls and boys occur in groups of both suicide attempters and non-attempters. With 4203 non-attempters and 489 attempters of both sexes, high school students, within the age range of 14 to 19 years, we applied a questionnaire which included Zungs Self-reported Depression Scale, Rosenbergs Self-Esteem Scale, questions on sociodemographic data, use of drugs, suicidal behaviour and other issues. Of 16 gender differences in the group of non-attempters, 11 differences were lost in the group of attempters, and five gender differences appeared just in the group of attempters. Adolescents who have already attempted suicide are more gender similar than their non-suicidal peers. The findings draw attention to the importance of normative gender differences in studying adolescent suicide and stress the need to assess carefully the suicide risk in relation to the gender of the adolescent.