Anticipation or ascertainment bias in schizophrenia? Penrose's familial mental illness sample.

Several studies have observed anticipation (earlier age at onset [AAO] in successive generations) in familial schizophrenia. However, whether true anticipation or ascertainment bias is the principal originating mechanism remains unclear. In 1944 L. S. Penrose collected AAO data on a large, representative sample of familial mental illness, using a broad ascertainment strategy. These data allowed examination of anticipation and ascertainment biases in five two-generation samples of affected relative pairs. The median intergenerational difference (MID) in AAO was used to assess anticipation. Results showed significant anticipation in parent-offspring pairs with schizophrenia (n = 137 pairs; MID 15 years; P = .0001) and in a positive control sample with Huntington disease (n = 11; P = .01). Broadening the diagnosis of the schizophrenia sample suggested anticipation of severity of illness. However, other analyses provided evidence for ascertainment bias, especially in later-AAO parents, in parent-offspring pairs. Aunt/uncle-niece/nephew schizophrenia pairs showed anticipation (n = 111; P = .0001), but the MID was 8 years and aunts/uncles had earlier median AAO than parents. Anticipation effects were greatest in pairs with late-AAO parents but remained significant in a subgroup of schizophrenia pairs with early parental AAO (n = 31; P = .03). A small control sample of other diseases had MID of 5 years but no significant anticipation (n = 9; P = .38). These results suggest that, although ascertainment-bias effects were observed in parent-offspring pairs, true anticipation appears to be inherent in the transmission of familial schizophrenia. The findings support investigations of unstable mutations and other mechanisms that may contribute to true anticipation in schizophrenia.     

‘I need help’: caregivers' experiences of caring for their relatives with mental illness in Jamaica

The findings reported here form part of a larger research project that examined non-compliance with medication among the mentally ill patients attending public clinics in a specific parish in Jamaica. The aim of the research was to explore the perceptions of caregivers about caring for the mentally ill at two outpatient psychiatric clinics. Caregivers involved in looking after their relatives with mental illness played a vital role in mental health promotion. This study sought to examine the caregivers'' perception of mental illness, including how they thought the illness was best controlled, the reasons why their relatives found it difficult to take their medication as instructed, and the coping skills that they employed when caring for their relatives. There were two focus groups, consisting of four individuals each, at two psychiatric clinics.The results revealed the following about the majority of the caregivers. First, it was recognised that caregivers have a good knowledge (and awareness) of medication usage inferred by either the absence or the presence of their relatives'' symptoms. Secondly, they sometimes felt sad and hopeless as a result of being the victims of violent attacks by those for whom they provided care. Thirdly, they highlighted issues of cost, accessibility and availability of medications as being problematic. Fourthly, in some cases they received little or no assistance from other family members.     

Do we need theory to study disease? Lessons from cancer research and their implications for mental illness

This article applies general ideas from contemporary philosophy of science--chief among them that much good science proceeds without theories and laws--to the science of medicine. I claim that traditional philosophical debates over the nature of disease make demands on medicine that are mistaken. I demonstrate this philosophical error by applying the perspective of the philosophy of science to understanding the nature of disease in two concrete cases, cancer and depression. I first argue that cancer research produces various kinds of piecemeal causal explanation and does so without any well-developed theory of normal and malignant functioning, despite the rhetoric of some leading cancer researchers. I then defuse doubts about the scientific status of psychiatry, by demonstrating that it is not necessary to have a theory of normal functioning in order to understand and treat depression.     

Community-based mental health care in Africa: mental health workers’ views

The World Health Organization (WHO) has for long proposed the development of community-based mental health services worldwide. However, the progress toward community mental health care in most African countries is still hampered by a lack of resources, with specialist psychiatric care essentially based in large, centrally located mental hospitals. It is again time to reconsider the direction of mental health care in Africa. Based on a small inquiry to a number of experienced mental health professionals in sub-Saharan Africa, we discuss what a community concept of mental health care might mean in Africa. There is a general agreement that mental health services should be integrated in primary health care. A critical issue for success of this model is perceived to be provision of appropriate supervision and continuing education for primary care workers. The importance of collaboration between modern medicine and traditional healers is stressed and the paper ends in a plea for WHO to take the initiative and develop mental health services according to the special needs and the socio-cultural conditions prevailing in sub-Saharan Africa.     

“Relative” adRenal insufficiency in cRitical illness

ObjectiveTo present a recommended approach to the problem of “relative” adrenal insufficiency (RAI) in the intensive care unit (ICU).MethodsWe examine historical data that support the traditional concepts of adrenal insufficiency and the idea that the increase in cortisol secretion during stress is needed to survive the stress. The controversial use of treatment with glucocorticoids (GCs) in patients with sepsis and septic shock in the ICU (and thus survival benefit) is also briefly discussed.ResultsDuring the past decade, the concept of RAI as the failure of cortisol secretion to increase in response to stress to sustain the patient through that stress has gained strength. In some studies, it has been suggested that as many as 75% of patients in an ICU setting have RAI. Experimental support for the concept is not possible because there is no clinically useful laboratory measure of GC action. Therefore, diagnosis is generally based on interpretation of the cosyntropin stimulation test.ConclusionThe best clinical judgment should always guide interpretation of any test results, and sharp categorization of patients on the basis of a single cutoff criterion should be avoided. Overall, the concept of RAI has no clinical utility. In these cases, administration of GCs adds cost without benefit and with increased risk. (Endocr Pract. 2009;15:632-640)     

Molecular insights into mental retardation: multiple functions for the Fragile X mental retardation protein?

Mental retardation is a frequent cause of intellectual and physical impairment. Several genes associated with mental retardation have been mapped to the X chromosome, among them, there is FMR1. The absence of or mutation in the Fragile Mental Retardation Protein, FMRP, is responsible for the Fragile X syndrome. FMRP is an RNA binding protein that shuttles between the nucleus and the cytoplasm. FMRP binds to several mRNAs including its own mRNA at a sequence region containing a G quartet structure. Some of the candidate downstream genes recently identified encode for synaptic proteins. Neuronal studies indicate that FMRP is located at synapses and loss of FMRP affects synaptic plasticity. At the synapses, FMRP acts as a translational repressor and in particular regulates translation of specific dendritic mRNAs, some of which encode cytoskeletal proteins and signal transduction molecules. This action occurs via a ribonucleoprotein complex that includes a small dendritic non-coding neuronal RNA that determines the specificity of FMRP function via a novel mechanism of translational repression. Since local protein synthesis is required for synaptic development and function, this role of FMRP likely underlies some of the behavioural and developmental symptoms of FRAXA patients. Finally we review recent work on the Drosophila system that connects cytoskeleton remodelling and FMRP function.     

Nonspecific X-linked mental retardation—A review

Summary Mental retardation, in particular the X-linked type, has interested geneticists for many years. An increasing number of affected families have been to genetic counselling centres, and an effort is being made to find clinical and cytogenetic methods so a reliable diagnosis can be made. This would enable the detection of carriers and the opportunity to offer prenatal diagnosis. Many questions remain regarding X-linked mental retardation, its causes, diagnosis, and prevention. In this article we try to give an overview about the status of our present knowledge and the questions to be answered in the future.     

An explication of ‘wind illness’ in Northern Thailand

Wind illness is a very common complaint among the Northern Thai, yet is rarely recognized by Thai physicians trained in biomedicine. Persons most susceptible to wind illness are adult women who have ever borne a child. Consequently, data were obtained from 415 everparous women, 43% of whom reported ever having had wind illness and 57%, never having had it. In addition, 20 individuals who had ever had the syndrome were followed for case study, and 13 indigenous healers who traditionally treat clients suffering wind illness were interviewed. Their perceptions of the etiology, symptomatology and treatment of wind illness are reported in Part I. Part II is an attempt to define wind illness in terms of biomedicine and as a consequence of fertility. Part III synthesizes the emic and etic accounts with explanations for the perdurance of wind illness despite the advances of biomedicine and the recent fertility decline in Northern Thailand.     

Birthweight - is it linked to minor illness in adulthood?

OBJECTIVE: The Barker's hypothesis states that poor nutrition in vitro is linked to low birthweight and major illness, in particular cardiovascular disease, in later life. Reported here is an investigation to establish links with birthweight and minor illness. METHODS: 78 participants whose birthweight ranged from 1.93 kg to 4.88 kg with a mean to 3.31 kg completed a symptom checklist. RESULTS: Analysis of variance indicates that those with a higher birthweight experience less minor illness. Regression analysis indicates that birthweight is significantly predictive of levels of some minor illnesses. CONCLUSION: This investigation adds a new dimension to Barker's hypothesis and shows that early environment can also affect levels of minor illness. It is suggested that susceptibility to minor illness may be explained by coactions between structure, function and environment prior to birth.