Medicine is rapidly becoming molecular medicine, and little escapes the grasp of modern genetics. Most disorders associated with learning disability have at least a genetic component influencing their expression; in many disorders, disturbances of genetic mechanisms play a pivotal role.

Dynamic mutations, imprinting mechanisms and gene-dosage effects are explained with reference to genetic disorders that lead to learning disability.

A review of recent important studies in the genetics of learning disability.

A host of new genetic connections to conditions associated with learning disability have been made.

A basic understanding of these genetic connections is important for all learning disability psychiatrists if they are to follow the rapid changes – already beginning to influence our practice – that hold immense promise for the future.

The rapid increase in research endeavour has not kept pace with the advent of well-publicised theories and treatments for autism.

To explore some of the newer developments in biological research into autism.

A review of recent publications and presentations.

The concept is shifting from the narrow perception of aloof autism, described by Kanner, to a wider one that includes a spectrum extending to a broader, subclinical phenotype. The genetic basis has been established; now we need to discover the location and interaction of the relevant sites. There is considerable interest in the bowel as a pathogenetic agent, particularly in the effects of exogenous opioids and multiple viral infection (the latter posing a public health problem). Also of concern is the role of (potentially treatable) epilepsy, analogous to the Laudau-Kleffner syndrome.

In the absence of a cure, the implementation of ideas will continue to outstrip factual evidence. Clinicians are challenged by the availability of information (and misinformation), particularly on the internet.

Ageing is a continuation of the developmental process and is influenced by genetic and other biological factors as well as personal and social circumstances.

To identify some key biological, psychological and social issues relevant to how ageing might particularly effect people with learning disabilities.

This selected review considers the extent to which there are similarities and differences relative to people without learning disabilities.

There is a convergence, in later life, between people with a learning disability and those without, owing to the reduced life expectancy of people with more severe disabilities. People with Down's syndrome have particular risks of age-related problems relatively early in life.

The improved life expectancy of people with learning disabilities is well established. There is a lack of a concerted response to ensure that the best possible health and social care is provided for people with learning disabilities in later life.

Psychological therapies are rarely used in people with learning disabilities. Learning disability is often given as an exclusion criterion. There is insufficient published research to conduct a systematic review. Few outcome studies of psychoanalytic or cognitive psychotherapy have been reported.

To describe recent advances in understanding and practice within the learning disability field which have not received wider recognition within mainstream psychotherapy and psychiatry.

The availability of different psychotherapeutic approaches is discussed. We explore developmental issues including the contribution of attachment theory to our understanding, and the effects of trauma on the lives of people with learning disabilities.

Theoretical and clinical perspectives suggest that many therapeutic opportunities exist.

Practitioners are encouraged to extend their therapeutic repertoire, and to report measurable outcomes.

We know little about how people with a learning disability access secondary health care.

To describe the epidemiology of learning disability, the influence of deprivation on prevalence and the pattern of secondary care uptake, including the effect of institutionalisation.

A record-linkage study of secondary care contacts of 434 000 people between 1991 and 1997. A population with learning disability was identified; their secondary care contact was calculated and compared with the general population's.

The distribution of people with a learning disability (n = 1595) correlated significantly with deprivation. The presence of a learning disability hospital significantly affected care uptake. Place of residence also affected acute admission to the learning disability hospital. Former institution residents generated 212 admissions per 1000 patients; community patients generated 18 per 1000. The admission rate with any psychiatric diagnosis to any setting was 26.3 per 1000 people with a learning disability; 16.5% of such patients had a dual diagnosis.

Health provision for people with a learning disability is affected by institutional provision.

The use of antipsychotic drugs in people with learning disabilities is currently receiving intensified scrutiny and attempts are being made to reduce it.

A randomised controlled trial was designed to investigate factors influencing antipsychotic drug reduction among people with learning disabilities prescribed such medication for behavioural problems.

Thirty-six participants randomly allocated to the experimental group underwent four, monthly 25% drug reduction stages. There were no planned drug changes for the control group (n = 20).

Twelve participants (33%) completed full withdrawal; afurther seven (19%) achieved and maintained at least a 50% reduction. Drug reduction was associated with increased dyskinesia and higher activity engagement but not increased maladaptive behaviour. Some setting characteristics were associated with drug reinstatement.

A substantial proportion of people with learning disability prescribed antipsychotic medications for behavioural purposes rather than for treating psychotic illness can have their drugs reduced or withdrawn.

Most scientific journals practise anonymous peer review. There is no evidence, however, that this is any better than an open system.

To evaluate the feasibility of an open peer review system.

Reviewers for the British Journal of Psychiatry were asked whether they would agree to have their name revealed to the authors whose papers they review; 408 manuscripts assigned to reviewers who agreed were randomised to signed or unsigned groups. We measured review quality, tone, recommendation for publication and time taken to complete each review.

A total of 245 reviewers (76%) agreed to sign. Signed reviews were of higher quality, were more courteous and took longer to complete than unsigned reviews. Reviewers who signed were more likely to recommend publication.

This study supports the feasibility of an open peer review system and identifies such a system's potential drawbacks.

PET studies of verbal fluency in schizophrenia report a failure of ‘deactivation’ of left superior temporal gyrus (STG) in the presence of activation of left dorsolateral prefrontal cortex (DLPFC), which deficit has been attributed to underlying ‘functional disconnectivity’.

To test whether these findings provide trait-markers for schizophrenia.

We used H215O PET to examine verbal fluency in 10 obligate carriers of the predisposition to schizophrenia, 10 stable patients and 10 normal controls.

We found no evidence of a failure of left STG deactivation in carriers or patients. Instead, patients failed to deactivate the precuneus relative to other groups. We found no differences in functional connectivity between left DLPFC and left STG but patients exhibited significant disconnectivity between left DLPFC and anterior cingulate cortex.

Failure of left STG ‘deactivation’ and left fronto-temporal disconnectivity are not consistent findings in schizophrenia; neither are they trait-markers for genetic risk. Prefrontal functional disconnectivity here may characterise the schizophrenic phenotype.

Methods of suicide and suicide rates in England and Wales have fluctuated considerably since the 1960s.

To review the changes that have occurred in suicide rates in England and Wales between 1960 and 1997.

Suicide rates, derived from total annual suicides and the estimated annual resident population, were obtained from the Office for National Statistics.

Suicide rates decreased in both genders between the early 1960s and the mid-1970s. The rate for males then increased between 1975 and 1990, while the rate for females continued to fall. Between 1990 and 1997, the rate decreased for males and females in all age groups, particularly for those using motor vehicle exhaust gas; the latter finding is associated with increasing use of catalytic converters.

Following the increase in suicide among males until 1990 there was a decrease for both genders between 1990 and 1997, consistent with the ‘Health of the Nation’ target.

If the established winter excess in births of people who subsequently develop schizophrenia is an effect of ‘seasonality’, this would be testable by examining the pattern of births in an equatorial region with no formal seasons.

To investigate whether there is any variation in month of birth among patients from equatorial Singapore with a diagnosis of schizophrenia.

All 9655 patients discharged from Singapore's national psychiatric hospital with a diagnosis of schizophrenia were included (year of birth range 1930–1984). We analysed aggregated data, as well as the data of subsamples grouped according to birth-year periods, in order to examine secular trends. One patient subsample (those born 1960–84) allowed exact matching againstthe general population data set and close testing of any seasonal influence.

Monthly variation in births was evident for both patients and controls; the patterns were very similar, apart from the patient sample showing a trough in March–April.

In an equatorial region, where ‘seasons’ are absent, no seasonal excess in births of those later developing schizophrenia was evident.

Amino acid mixtures that lower brain availability of the serotonin (5-HT) precursor tryptophan produce acute depressive relapse in women with a history of major depression. Dieting also lowers brain tryptophan availability, but its effects on brain 5-HT function in recovered depressed women have not been studied.

To test the hypothesis that women with a history of major depression would show impaired regulation of brain 5-HT function during a period of dieting-induced tryptophan depletion.

Women with and without a history of major depression were placed on a daily 1000 kcal (approximately 4200 kJ) diet for three weeks. Before the diet and in the final week we measured fasting plasma tryptophan levels and the prolactin response to an intravenous tryptophan challenge.

Dieting lowered plasma tryptophan levels equivalently in women with and without a history of depression. In women without a history of depression, dieting also increased the prolactin response to tryptophan. This increase did not occur in women with a history of depression.

Women with a history of depression showed impaired regulation of brain 5-HT function in response to dieting.

The high mortality from suicide in patients admitted to hospital with an affective disorder is well documented, although specific causes of mortality and changes in mortality are less well studied.

To describe the pattern of mortality in patients with affective disorder and to study changes in suicide riskduring the study period.

All patients (n=54 103) admitted for the first time to a psychiatric hospital in Denmarkduring the period 1973–1993 because of affective disorder were included in this study. The mortality rate was compared with that of the general population.

Mortality from natural and unnatural causes was elevated in all subgroups of affective disorder. The risk of suicide among patients ill for one year or less after first admission increased during the period 1973–1993.

More attention should be paid to the risk of suicide and to physical illness in patients with affective disorders.

Some women dread and avoid childbirth despite desperately wanting a baby. This is called tokophobia.

To classify tokophobia for the first time in the medical literature.

Twenty-six women noted to have an unreasoning dread of childbirth were interviewed by the same psychiatrist, who was not the treating doctor. A qualitative analysis of these psychiatric interviews was performed.

Phobic avoidance of pregnancy may date from adolescence (primary tokophobia), be secondary to atraumatic delivery (secondary tokophobia) or be a symptom of prenatal depression (tokophobia as a symptom of depression). Pregnant women with tokophobia who were refused their choice of delivery method suffered higher rates of psychological morbidity than those who achieved their desired delivery method.

Tokophobia is a specific and harrowing condition that needs acknowledging. Close liaison between the obstetrician and the psychiatrist in order to assess the balance between surgical and psychiatric morbidity is imperative with tokophobia.

Jerusalem's psychiatrists expect to encounter, as the millennium approaches, an ever-increasing number of tourists who, upon arriving in Jerusalem, may suffer psychotic decompensation.

To describe the Jerusalem syndrome as a unique acute psychotic state.

This analysis is based on accumulated clinical experience and phenomenological data consisting of cultural and religious perspectives.

Three main categories of the syndrome are identified and described, with special focus on the category pertaining to spontaneous manifestations, unconfounded by previous psychotic history or psychopathology.

The discrete form of the Jerusalem syndrome is related to religious excitement induced by proximity to the holy places of Jerusalem, and is indicated by seven characteristic sequential stages.