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Hyperekplexia is a rare but well-delineated clinical syndrome of pathological startle response and neonatal hypertonia. Many cases result from mutations in the α1 subunit of the glycine receptor (GLRA 1).
Method
The clinical features, management and recent genetic studies of hyperekplexia are reviewed.
Results
Diagnosis of the disorder should not be difficult, if one is aware of the syndrome. The treatment of first choice is with the benzodiazepine drug clonazepam, which often causes a dramatic although incomplete diminution of startle. Both recessive and dominant mutations in GLRA 1 have been found in affected individuals. The study of mouse mutants with startle phenotypes suggests that the remainder of cases may well be due to mutations in the β subunit of the glycine receptor.
Conclusions
Hyperekplexia is the first human disease shown to result from mutations within a neurotransmitter gene. The demonstration of both dominant and recessive inheritance resulting from different mutations in the same gene is of considerable interest, as other neuropsychiatric disorders may result from mutations in ligand-gated ion channels. Mutation analysis of GLRA 1 is also likely to be useful as an aid to genetic counselling and in diagnostic evaluation of neonatal hypertonia.
We examined citation data for the British Journal of Psychiatry (BJP) and four other general psychiatry journals to assess their impact on the scientific community.
Method
Data on three measures of citations (total number of citations, impact factor and ranking by impact factor) were obtained from Journal Citation Reports for 1985–1994. Rank correlations from year to year were calculated.
Results
The BJP currently ranks sixth of all psychiatry journals when journals are ranked by impact factor. The journal's impact factor fell between 1985 and 1990 and this was followed by a rise in impact factor after 1991. The BJP did not rank in the top 10 psychiatry journals between 1991 and 1993. Archives of General Psychiatry is cited more frequently than any other psychiatry journal, with the American Journal of Psychiatry usually ranking second. Psychopharmacology journals are replacing more general journals in the top rankings. Rankings of most journals have become less stable in recent years.
Conclusions
The BJP would have to change the nature and number of papers published to improve its impact factor. There are a number of limitations to citation data and such data are only one of several factors useful in evaluating the importance of a journal's contribution to scientific and clinical communities.
Conflict of interest
These condauthor is Editor of the British Journal of Psychiatry.
We set out to investigate whether community nurses could be trained in problem-solving therapy and, once trained, how effective they would be in treating emotional disorders in primary care.
Method
Seventy patients with an emotional disorder in primary care were randomly allocated to receive either problem-solving therapy from a trained community nurse or treatment as usual from their general practitioner. Interview and self-rated assessments of clinical and economic outcome were made pre-treatment, at eight weeks and at 26 weeks after treatment.
Results
There was no difference in clinical outcome between patients who received problem-solving treatment and patients who received the general practitioner's usual treatment. However, patients who received problem-solving treatment had fewer disability days and fewer days off work. The health care cost of problem-solving was greater than that of the general practitioner's usual treatment but this was more than offset by savings in the cost of days off work.
Conclusions
Problem-solving treatment can be given by trained community nurses. The clinical effectiveness and cost-benefit of the treatment will depend on the selection of appropriate patients.
Previous meta-analyses suggest that individuals treated with serotonin-specific reuptake inhibitors (SSRIs) in randomised controlled trials (RCTs) are less likely to discontinue treatment than those on tricyclic antidepressants. This metaanalysis investigates whether this is due to the frequent use in RCTs of older reference tricyclics (imipramine and amitriptyline), which may have worse side-effects than more recent compounds.
Methods
A meta-analysis of RCTs comparing tricyclic and heterocyclic antidepressants with SSRIs in the treatment of depression.
Results
The overall odds ratio of discontinuation on tricyclic/heterocyclic antidepressants compared with SSRIs was 0.86 (95% CI 0.78–0.94). The odds ratio for reference tricyclics was 0.82 95% CI 0.72–0.23), newer tricyclics 0.89 (95% CI 0.74–1.06), and heterocyclics 1.02 (95% CI 0.78–1.35). The pooled advantage of SSRIs over tricyclics was maintained whether the population studied consisted of younger adults or only the elderly. No differences in discontinuation rates were detected between the SSRIs.
Conclusions
The lower rate of discontinuation in patients on SSRIs may be due to the use of old tricyclics (which have worse side-effects) as reference compounds. The SSRIs do not show a statistically significant difference in discontinuation rates when compared with newer tricyclics or heterocyclics.
The present study examines the effects of independent, single pre- and perinatal risk factors and rates of obstetric complications upon the subsequent development of schizophrenia.
Method
This study was based on prospectively recorded birth records of 107 cases (82 with schizophrenic disorders and 25 with other psychotic reactions) and 214 controls, individually matched by gender and time and place of birth. Variables univariately associated with significantly elevated risk were entered in a logistic regression model.
Results
A high non-optimality summary score (> or = 7 complications of 34 possible) was a significant risk estimate for the total index group (OR 4.58, 95% CI 1.74–12.03) and the 82 schizophrenic patients (OR 3.67, CI 1.30–10.36). Patients with 2–6 complications also had an increased, although lower, risk (OR 1.67, CI 1.02–2.75). A disproportionate birth weight for body length (OR 3.57, CI 1.77–7.19) and a small head circumference (OR 3.93, CI 1.32–11.71) were the strongest independent risk factors.
Conclusions
A contribution of obstetric complications to the risk of schizophrenia was confirmed. Only aberrations in physical size remained as individual independent risk factors.
On the basis of Liddle's three-syndrome model of schizophrenia, it was predicted that: (1) symptoms of psychomotor poverty would be particularly correlated with impaired performance on neuropsychological tests likely to reflect functioning of the dorsolateral prefrontal cortex; (2) disorganisation would be particularly correlated with impaired performance on tests sensitive to medio-basal prefrontal functioning; and (3) reality distortion would be particularly correlated with measures sensitive to temporal lobe functioning.
Method
The above hypotheses were tested on 87 subjects with a confirmed diagnosis of schizophrenia. Patients' symptoms were scored for each of the three syndromes. Patients completed six neuropsychological tests designed to measure impairment in specific areas of the brain.
Results
There was no support for the first two hypotheses. There was, however, evidence of a specific relationship between reality distortion and neuropsychological performance usually considered to be related to left temporal lobe functioning.
Conclusions
Although not directly supporting the first two hypotheses; the results are, in general, consistent with there being different cortical-subcortical circuits associated with each of psychomotor poverty and disorganisation. Temporal lobe functioning appears to have particular significance for the reality distortion syndrome.
Obsessive–compulsive disorder (OCD) is heterogeneous, with some forms related to Gilles de la Tourette's syndrome (GTS). This is a phenomenological study designed to investigate the nature of these possible OCD subtypes and the relationship between OCD and GTS.
Method
We evaluated 20 adult outpatients with OCD, 21 with GTS, and 20 with OCD plus GTS using a semi-structured interview designed to assess cognitive, sensory and autonomic phenomena preceding repetitive behaviours.
Results
More cognitions and autonomic anxiety and fewer sensory phenomena were reported in OCD than in GTS. Like the GTS group, the OCD plus GTS group reported more sensory phenomena and fewer cognitions than the OCD group.
Conclusions
The presence or absence of cognitions, sensory phenomena, and autonomic anxiety distinguishes repetitive behaviours in patients with OCD from those with OCD plus GTS, and GTS. These subjective experiences may be useful in subtyping OCD and may represent valid predictors of prognosis and treatment response.
Predictive genetic testing for Huntington's disease has been available in Cardiff since 1987 using linked genetic markers, and since 1993 using direct mutation testing, which can also be used as a diagnostic test. During this period there have been numerous referrals that have required liaison with psychiatric services at all stages of the testing programme.
Method
A series of cases was selected to highlight issues from both genetic prediction and diagnosis that are relevant to psychiatric practice and have arisen during the testing programme.
Results
Issues have been raised concerning competence to consent to testing in the context of psychotic illness; depression and suicidal ideation in test candidates; requests for testing from third parties such as psychiatrists, social services and the courts; and testing of children.
Conclusions
As genetic testing becomes possible for more disorders the lessons learned from Huntington's disease will provide valuable guidelines for counselling.
Research suggests an association between frontal and temporal injury and antisocial conduct. We studied the frequency of antisocial behaviours in fronto-temporal dementia (FTD) where pathology is anterior frontal-temporal, compared with Alzheimer's disease (AD) where pathology is primarily posterior temporal-parietal.
Method
The presence of antisocial conduct was compared in 22 FTD versus 22 AD subjects. All FTD patients had anterior frontal or temporal hypoperfusion with single photon emission computed tomography, whereas those with AD had posterior temporal-parietal hypoperfusion.
Results
Ten FTD and one AD subject showed antisocial behaviours, which included assault, indecent exposure, shoplifting and hit-and-run driving. Three FTD subjects were arrested. This difference was highly significant (P = 0.004).
Conclusions
Degeneration of frontal and temporal lobes predisposes to antisocial behaviour. This study supports a relationship between frontal-temporal dysfunction and certain types of antisocial activities.
Lewy body dementia (LBD) is emerging as a common cause of degenerative dementia. However, LBD cannot yet be diagnosed with certainty in life. There is some preliminary evidence that the pattern of cognitive impairment in LBD is different from that in Alzheimer's disease (AD). We set out to compare the performance on different subtests of the Cambridge Cognitive Examination (CAMCOG) of LBD patients and AD patients who were similar in overall degree of cognitive impairment.
Methods
All patients were recruited from a memory clinic LBD (n = 17) was diagnosed according to the McKeith clinical criteria. AD (n = 17) was diagnosed according to NINCDS-ADRDA criteria. The performances of LBD and AD patients on the neuropsychological subscales of the CAMCOG were compared by applying Hotelling's multivariate test of significance and subsequent univariate F tests.
Results
There were no statistically significant differences between the two groups on Mini-Mental State Examination and global CAMCOG rating. Hotelling's test with LBD and AD as the between-group factor and the neuropsychological subtests from CAMCOG as dependent variables revealed a statistically significant group effect (P < 0.05). Univariate F tests showed that recall (P < 0.02) and praxis (P < 0.003) significantly contributed to this effect.
Conclusions
These results suggest that there may be different neuropsychological profiles in the two conditions, with LBD subjects being better on recall but worse on praxis than those with AD.
Panic disorder is associated with neuroendocrinological abnormalities, some of which overlap with those seen in major depression. To date, there has been little assessment of the role of cholinergic mechanisms in this disorder.
Method
Sixteen patients with DSM–III–R panic disorder and an age and gender-matched comparison group were administered 120 mg of the acetylcholinesterase inhibitor pyridostigmine. Growth hormone (GH) responses over a three-hour period were monitored.
Results
Mean ΔGH, the difference between basal and the maximum pyridostigmine levels, was significantly greater in patients with panic disorder than in the comparison group.
Conclusions
This may reflect increased cholinergic responsivity in panic disorder.
The study focused on: (1) the existence of genetic anticipation in a randomly selected sample of bipolar I patients using broad and narrow definitions of the affection status in the parental generation; (2) the relationship between anticipation and the age at investigation in probands and in their relatives; (3) the relationship between anticipation and imprinting.
Method
One hundred and fifteen bipolar I patients and their first- to third-degree relatives were diagnosed according to DSM–III–R criteria using the Diagnostic Interview for Genetic Studies and the Family Interview for Genetic Studies.
Results
Age at onset was found to be 6–10 years younger in probands with affected parents or uncles/aunts. Two-thirds of these families showed positive anticipation under both the broad and the narrow definitions of affection status in the parents' generation. The age at investigation was younger in probands showing positive anticipation. Anticipation was found only in probands inheriting the disorder from the paternal side.
Conclusions
In spite of the inevitable association between young current age and young age at onset, which could result in spurious anticipation effects, our findings suggest that this phenomenon is not the sole cause of observed anticipation.
Although subjective ratings of health have been shown to be accurate predictors of physical health outcomes, there is little research on the association between subjective emotional health (SEH) and psychiatric outcomes.
Method
This paper utilises data from the Epidemiologic Catchment Area study to explore the relationship between baseline SEH and the risk for major depression in the next year. Both recurrent and incident episodes of depression are outcomes of interest.
Results
The age- and gender-adjusted relationship between SEH and depression is quite significant, and remains so after adjusting for other factors associated with major depression. The more positive the SEH rating, the lower the risk of an episode of depression in the next year.
Conclusions
Some possible explanations for this association are explored, including possible confounders that were not accounted for and the possibility that SEH ratings pose an independent risk for major depression.
Dysfunctional parental styles, as measured by the Parental Bonding Instrument (PBI), have been associated with adult depression in Western cultures. This study sought to determine whether such parental styles are also associated with adult depression in a non-Western society.
Method
PBI scores and parental styles assessed by PBI quadrants were explored in 51 Japanese depressive patients and controls in a matched, case-control design.
Results
Low care and high protection scores were associated not with melancholic but with non-melancholic depression. Subjects exposed to dysfunctional parental styles demonstrated a high risk for non-melancholic depression.
Conclusions
These data suggest that the association between dysfunctional parental styles on PBI and non-melancholic depression may be independent of cultural differences.
In Italy a number of studies have been published on psychotropic drug use in general practice and community settings. However, the present study is the first Italian study to focus on hypnotic drug prescriptions in a large community sample.
Method
Data were collected from 145 of the total of 404 pharmacies of five large cities in north-eastern Italy. All consecutive patients presenting a prescription for a hypnotic drug were interviewed by the pharmacists during a two-week period.
Results
The pharmacists interviewed 7/44 consecutive patients. The highest prevalence of prescriptions for hypnotic drugs was found in the elderly and in women. The majority (96%) of prescriptions were for benzodiazepines, with lorazepam and triazolam accounting for 50%. Short-acting and ultra-short-acting benzodiazepines were more frequently prescribed for sleep induction by general practitioners (GPs) than by psychiatrists and other physicians. Frequently the benzodiazepine used as a hypnotic was also prescribed for day time sedation. Approximately 72% of subjects reported they had been taking the prescribed drug for one year or more.
Conclusions
In Italy benzodiazepines are the most frequently prescribed drugs for sleep induction; as they are widely prescribed for elderly people by GPs often for long periods of time, educational programmes and guidelines on the rational use of benzodiazepines in general practice are needed.
Recent surveys suggest that psychiatric patients are at increased risk of being infected with HIV, although very little information is available concerning the seroprevalence of HIV infection among this population outside the US. The aim of this study is to determine the seroprevalence of HIV-I among patients admitted to a psychiatric in-patient unit and to gather linked anonymous risk-factor information.
Method
An unlinked serosurvey was made, using HIV-1 antibody testing of remnant blood specimens collected for routine medical purposes, of patients consecutively admitted to an acute psychiatric unit in Madrid.
Results
Blood was obtained from 390 of the 477 eligible patients (81.8%). The prevalence of HIV was 5.1% (20/390). Patients aged between 18 and 39 accounted for 63.4% of the admissions and 75% of the positive results. Of the 29 patients who presented with injecting drug use, 14 were HIV-infected (48.3%; 95% CI 29.4 67.5). Of the 51 patients for whom any risk behaviour was noted on the admission chart, 18 were HIV-infected (35.3%; 95% CI 22.4 49.9).
Conclusions
This study demonstrates that there is a substantial prevalence of HIV infection in psychiatric patients admitted to an acute in-patient unit. History of injecting drug use was strongly associated with seropositivity. Clinicians recognised risk factors for HIV infection in the majority of the HIV-infected cases.
The aim was to document the mortality of psychiatric patients within a service system characterised by a low beds-to-population ratio.
Method
All patients admitted to one psychiatric hospital were followed from date of first admission after 31 July 1980 until 31 December 1992 with regard to death, by linkage to the Norwegian Central Register of Persons. Age-adjusted total mortality rates and standardised mortality ratios (SMRs) compared with the general population were computed.
Results
Mortality rates were highest in men, and increased with age in both sexes. SMRs were highest in the younger age-groups, and the overall SMR was significantly higher for men than for women. Mortality was highest during the first year after admission for both sexes and was higher than in the general population in all diagnostic groups.
Conclusions
The mortality of psychiatric patients is still unsatisfactorily high, and men constitute a special high-risk group.