'Idiopathic' intestinal failure--the importance of identifying and treating primary psychopathology.

BACKGROUND: Gastrointestinal neuromuscular disorders (GINMD) are an important cause of intestinal failure (IF). We present six cases of IF in whom a diagnosis of GINMD was initially suspected, but in whom psychopathology was discovered to be the primary etiology. METHODS: (i) Six consecutive cases referred to our unit with IF, initially presumed to be due to GINMD, were selected. Informed consent was obtained from all patients. Case notes were reviewed for salient clinical information. (ii) A literature search was performed to ascertain the epidemiology of psychopathology in IF and the current evidence for the management of severe functional GI disorders with a multidisciplinary psychiatric approach. KEY RESULTS: (i)All six cases required multidisciplinary psychiatric management in a specialized psychiatric unit that included the use of antidepressants, antipsychotics, mood stabilizers, and Electroconvulsive therapy in addition to nutritional support via enteral or parenteral routes. (ii) The evidence base for the treatment of severe FGIDs is sparse. CONCLUSIONS & INFERENCES: There is a need for additional reporting of such cases and further research. Our experience would suggest that a delay in the involvement of a specialist liaison psychiatrist has the potential to be life threatening in such cases. This may be more likely with greater severity, where the apparent predominance of 'physical' symptoms generates reluctance in both patient and physician to consider a psychiatric etiology and also appears to occur due to a lengthier investigative process than existed previously. We therefore propose that the provision of a specialist psychiatric assessment for all patients presenting with IF is indicated at the point of initial clinical contact, based upon the substantial clinical benefit it has the potential to confer upon a significant minority. This process need not delay investigation, which can continue as indicated in parallel, but can be life-saving.

Genetic counselling protocols for hereditary non-polyposis colorectal cancer: a survey of UK regional genetics centres.

Predictive testing for hereditary non-polyposis colorectal cancer (HNPCC) is typically offered within an extended genetic counselling protocol, originally developed in the context of Huntington's Disease. We conducted a questionnaire survey of 20 UK regional genetics centres to obtain evidence regarding current approaches to HNPCC pre-test counselling. Centres were asked to describe the structure and content of pre-test counselling and their views on shortening the protocol. Sixteen centres responded to the survey. Four centres were considering shortening the protocol or had already done so. The remaining centres followed an extended protocol of two sessions separated by a 1-month period for reflection, although two centres conceded that the protocol had been reduced in certain cases. Different centres used different terminology to describe the content of pre-test counselling. Although content areas relating to education or impact of test results were covered more frequently than those relating to reflection, there was a marked tendency to consider all three areas as essential and to use both educational and reflective counselling, even in those centres that favoured a shortened protocol. This apparent dilemma highlights both the practical difficulty of how to shorten HNPCC pre-test counselling protocols and the need for controlled trials of different approaches.

Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease.

This paper reflects on experience gained from presymptomatic testing for Huntington disease. An approach is presented which considers the role of the clinician and aims of the interview. Irrespective of the disease being tested for, it is suggested that the psychological aim of presymptomatic testing is to foster emotional insight and understanding that will help clients in their decision-making process about testing and their subsequent adjustment to the result. Based on these aims the process of presymptomatic testing, counseling is considered in terms of clarification, consideration, education, and reflection, followed by decision making. Practical approaches are discussed and illustrated with clinical examples.

Daytime somnolence in myotonic dystrophy.

Somnolence in myotonic dystrophy (DM) has not been measured using a reliable daytime somnolence scale. The aim of this study was to compare somnolence in DM patients with healthy controls and Charcot-Marie-Tooth disease (CMT) patients using such a scale and to compare this with potential contributory factors. We investigated 35 subjects with adult-onset DM, 16 healthy controls and 13 CMT controls. The Epworth Sleepiness Scale (ESS) was the principal measurement of daytime somnolence. Nocturnal sleep was assessed using a sleep diary. Other assessments measured daytime respiratory function, cognitive function, motor impairment, disability, swallowing capacity and depression. DM and CMT patients had greater daytime sleepiness than unaffected controls. In the DM group significant correlations were found between somnolence and measures of disability, sleep quality and some measures of depression. It was concluded that there is an abnormal level of daytime somnolence in DM, which is partially associated with disability.

Predictive testing for Huntington's disease: I. Predictors of uptake in South Wales.

In Wales, predictive testing for Huntington's disease (HD) has not been offered proactively to families and uptake of testing is low in comparison to other centres. Little is known of those not requesting testing, particularly those not in direct contact with the genetics service. This study examined differences between a cohort of 22 test applicants and a random group of 32 'non-requesters', drawn from the South Wales HD register. Respondents were interviewed by means of a semi-structured schedule in their own homes. The study groups differed significantly on a number of variables including: knowledge of the availability of testing; perceived attitudes of family members and significant others to testing; length of knowledge and perceived stressfulness of being at risk; and perceived ability to cope with an unfavourable result. Overall, knowledge of testing procedures was poor and at-risk individuals' understanding of genetic terminology was at odds with scientific distinctions. Discussion focuses on the organisational and psychological factors associated with lack of knowledge of the availability of testing and the interpretation of reported coping capacities.

Predictive testing for Huntington's disease: II. Qualitative findings from a study of uptake in South Wales.

Semi-structured interviews were conducted with a cohort of 22 test applicants who requested Huntington's disease (HD) predictive testing in South Wales, and a random sample of 32 non-requesters, drawn from the South Wales HD register. Apart from identifying differences between the groups, the study afforded the opportunity to listen, at length, to at-risk individuals' accounts of living at risk and their thoughts about predictive testing and genetic services. Emergent themes included difficulties in family communication and the uncertainties inherent in being at risk and undergoing testing. Important factors in decision making about testing were: moral imperatives to clarify one's genetic status: views about the controllability of the future; family attitudes and norms; and the impact of a test result on family members. At-risk individuals' perceptions of the genetics service were that contact with the service would result in pressure to be tested and a need for test applicants to present a favourable view of coping capacities to secure testing. In addition, there was an expectation of ongoing contact with HD families at the initiative of the service providers. Implications of the findings for the way in which predictive testing services are structured and introduced to the at-risk population are discussed.

Huntington's disease: psychiatric practice in molecular genetic prediction and diagnosis.

BACKGROUND: 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.

Nonparticipation in Huntington's Disease Predictive Testing: Reasons for Caution in Interpreting Findings.

When given the opportunity to clarify their genetic status, most individuals at risk for Huntington's disease (HD) currently show a preference not to know. Our understanding of the characteristics of those who do not request HD predictive testing, and the factors influencing their decision, lags behind our knowledge of test applicants. In the light of our experience with interviewing a random sample of nonparticipants in an ongoing study, we critically analyze research concerning the differences between participants and nonparticipants in HD predictive testing programs and the interpretive characterization of these two groups. The findings concerning nonparticipants are limited to a small sample of the at-risk population, with the problems of biased samples and low response rates. We discuss this and other aspects of research in this area, notably the context and timing of data collection and the predominantly questionnaire-based methodology, that lead us to interpret the conclusions drawn about these two groups with caution.

Huntington's disease predictive testing: the case for an assessment approach to requests from adolescents.

Adolescents who are actively requesting Huntington's predictive testing of their own accord pose a dilemma to those providing testing. In the absence of empirical evidence as regards the impact of genetic testing on minors, current policy and guidelines, based on the ethical principles of non-maleficence and respect for individual autonomy and confidentiality, generally exclude the testing of minors. It is argued that adherence to an age based exclusion criterion in Huntington's disease predictive testing protocols is out of step with trends in UK case law concerning minors' consent to medical treatment. Furthermore, contributions from developmental psychology and research into adolescents' decision making competence suggest that adolescents can make informed choices about their health and personal lives. Criteria for developing an assessment approach to such requests are put forward and the implications of a case by case evaluation of competence to consent in terms of clinicians' tolerance for uncertainty are discussed.

[Lipid values in a rural community]. / Lipidwerte in einer ländlichen Gemeinde.

In 1987 the population of a rural community in Tyrol aged 20 to 74 years was screened for plasma lipids (cholesterol, HDL cholesterol and triglycerides). The mean cholesterol value was 205.8 mg/dl (5.31 mml/l) in men and 207.9 mg/dl (5.37 mmol/l) in women. These values seem to be the lowest so far recorded for population-based cholesterol values in Austria. This might be partly explained by an intensive risk factor intervention programme which has been implemented in this community throughout the past ten years. HDL cholesterol was significantly higher in women (63.7 mg/dl or 1.64 mmol/l) than in men (51.1 mg/dl or 1.32 mmol/l). The opposite was true for non-fasting triglycerides, with mean values of 186.3 mg/dl (2.1 mmol/l) in men, and 122.1 mg/dl (1.4 mmol/l) in women.

[10 years' intervention in coronary risk factors in a rural community]. / 10 Jahre Intervention bei koronaren Risikofaktoren in einer ländlichen Gemeinde.

In 1977 a field survey of coronary risk factors was undertaken in a Tyrolean village. All inhabitants aged between 20 and 64 years were investigated for hyper-cholesterolaemia, hypertension and smoking. In subsequent years a community intervention programme was developed and implemented in a joint endeavour between the general practitioners of the village and the project leader. After 10 years, in May 1987, a new survey was conducted in the age group 20 to 74 years. The mean values for systolic and diastolic blood pressure as well as the plasma cholesterol level of the original cohort were found to be significantly lower than 10 years previously. There was a substantial, but not significant reduction in the percentage of male smokers in the age group 20 to 64 years, but no change in the percentage of female smokers.

[Drug use by 60- to 74-year-old patients of a rural community. The Tyrolean Oberperfuss Heart Project]. / Medikamentenkonsum bei 60- bis 74jährigen in einer Landgemeinde. Tiroler Herzprojekt Oberperfuss.

Information on drug consumption was collected in May 1987 within the framework of the 10 year follow-up survey of a coronary risk factor detection programme in the Tyrolean village of Oberperfuss. Data were obtained from the entire cohort born between 1913 and 1927. On average, men took 1.7 and women 2.8 different types of drugs. Blood pressure lowering substances, including diuretics, were the most frequently consumed drugs, followed by digitalis.