Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling

Sudden infant death syndrome (SIDS) is defined as the sudden and unexpected death of an apparently healthy infant under 1 year of age. Routine autopsies often provide few clues as to the cause of death and rarely include a biochemical evaluation. Genetic counseling for SIDS can be difficult as recurrence risks vary depending on the age at death and the number of deaths which have occurred in the family. Biochemical disorders may account for up to 5% of SIDS. Of the metabolic disorders known to be involved in SIDS, the most commonly found is medium-chain acyl CoA dehydrogenase deficiency (MCAD). MCAD is an autosomal recessive disorder of fatty acid oxidation which accounts for up to 1% of SIDS. For some families, the addition of a postmortem biochemical investigation can identify an unsuspected metabolic disorder as the cause of death. Once the diagnosis is established, accurate genetic counseling can then be provided. Metabolic testing of the surviving siblings of victims of sudden death, and the subsequent identification of those due to MCAD can prevent the tragedy of recurrent SIDS in some families. In addition, screening the survivors of an acute life threatening event (ALTE) may also prevent a recurrence.     

The crane's foot: The rise of the pedigree in human genetics

The standard pedigree used by geneticists is intimately connected to the history of genetics. Pedigrees drawn today are based on standards established in the early decades of the twentieth century. Those standards were established by geneticists who pursued an active interest in eugenics. The slightly different standards followed in America vs. England to some extent followed the stronger support of Mendelism by the Americans, as well as the individual preferences of the leading human geneticists in those countries.     

Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications

Predictive testing for Huntington disease is presently offered in a select few medical genetics centers in the United States. This is in part due to the labor intensive counseling and psychological testing suggested by the research protocols. We discuss some specific suggestions for establishing programs for Huntington disease predictive testing within pre-existing medical genetics clinics to encourage more centers to offer presymptomatic testing. This will allow more at risk individuals the opportunity to consider predictive testing and cut down the expenses of traveling to the few predictive testing centers that currently exist. The counseling principals will remain similar to those discussed here, even following the identification of the Huntington disease mutation.     

ASSESSING FOOD PREFERENCES AMONG PERSONS WITH PROFOUND MENTAL RETARDATION: PROVIDING OPPORTUNITIES TO MAKE CHOICES

Increased attention has been directed recently to assisting persons with severe handicaps to express preferences concerning events in their lives. We evaluated a program for assessing choice-making skills to provide opportunities for persons with profound mental retardation to express food and drink preferences. In Experiment 1, the assessment procedure involving repeated, paired-item presentations resulted in active choice making and the identification of preferences for all 5 participants. Results also indicated that caregiver opinion was not predictive of participant food and drink preferences. A survey of service providers supported the importance of meal-related choices in this population. In Experiment 2, the practicality of the assessment procedure was supported by demonstrating that (a) routine caregivers could apply the procedure with appropriate supervision to provide choice opportunities, and (b) results of the procedure were predictive of participant choices when a less structured and more normal opportunity to express a preference was provided during regular mealtimes. Results are discussed in terms of extending the developing technology of preference and reinforcer identification to other important areas for persons with severe disabilities.     

EFFECTS OF CHOSEN VERSUS ASSIGNED JOBS ON THE WORK PERFORMANCE OF PERSONS WITH SEVERE HANDICAPS

We evaluated the effects of several choice-related variables on the work performance of adults with severe handicaps. After assessing client work preferences, three choice-related situations were presented: (a) providing clients with the opportunity to choose a work task, (b) assigning a preferred task, and (c) assigning a nonpreferred task. Results indicated that clients attended to work tasks almost twice as much when they chose their tasks and when assigned to work on preferred tasks versus when assigned to work on nonpreferred tasks. Results are discussed regarding the need to assess systematically the effects of choice-related variables.     

Whose Gene Is It? A Case Discussion About Familial Conflict over Genetic Testing for Breast Cancer

A multidisciplinary group of genetic and other professionals discuss a complex case of familial conflict over access to genetic information. One twin wishes to know the results of her deceased mother's tests for BRCA1 mutations; a second twin objects to researchers making this information available. As the case discussion unfolds, the apparent facts of this case are called into question and the lines of ethical certainty become less clear.     

Knowledge of Breast Cancer Genetics Among Breast Cancer Patients and First-Degree Relatives of Affected Individuals

The cloning of BRCA1, a susceptibility gene for inherited breast cancer, has made genetic screening possible for individuals and families whose medical histories are suggestive of an inherited predisposition to breast cancer. To date, few systematic attempts have been made to determine the level of knowledge about breast cancer genetics among women who are likely to seek BRCA1 screening when it becomes widely available. The present study attempted to assess the general knowledge about BRCA1 mutations in two groups: (1) first-degree relatives (FDRs) of breast cancer patients; and (2) women with a previous diagnosis of breast cancer. A self-administered, thirty-item questionnaire was developed through a pilot study. Ten of the items were objective, factual questions about breast cancer genetics. Responses to these questions were used to generate an overall knowledge score for each respondent. The study population was moderately knowledgeable about breast cancer genetics, with an average score of 5.35 out of 10. Counselors should not underestimate the importance of evaluating each counselee's existing knowledge about breast cancer, which can affect the provision and reception of genetic information. In particular, specific areas of knowledge that may be confusing or misunderstood were identified and these topics are discussed in detail.     

Natural ways are better: Adolescents and the ‘anti-obesity’ gene

Empirical research with young people in Finland, Germany, Spain and Britain was carried out as part of the BIOCULT project funded by the European Union. The project focused on their attitudes to biotechnology and, in particular, the formation of arguments about risk and safety. This paper looks at the responses of 14–18 year olds to a story about the so called anti-obesity gene, in the form of advice to a friend who is taking it. The majority advised against taking it with some differences by gender and country. Most reservations were on grounds of safety and the feeling that ‘natural’ ways to lose weight are better: A minority questioned the idea of striving for a ‘perfect’ body. The types of arguments used by the young people reveal underlying perspectives on the place of human beings in the world and whether they have a right to manipulate nature and their own bodies. Marie Levitt is a sociologist with research interests in attitudes and values in relation to biotechnology, health and religion.     

The specific action of different personality risk factors on cancer of the breast, cervix, corpus uteri and other types of cancer: A prospective investigation

We report the results of a prospective study of a random sample of 1353 elderly but healthy men and women who were followed up for a period of 10 yr, when mortality and cause of death were ascertained. Overall results have been reported elsewhere for mortality from cancer, coronary heart disease and other causes; here we are concerned with the personality factors predicting breast cancer, cervical cancer, cancer of the corpus uteri specifically, as well as other types of cancer in women. Ten specific hypotheses were tested, using specially constructed questionnaires for the purpose, and for most of these statistically significant support was obtained. The results justify belief that specific types of cancer may be related to specific stress/personality factors.     

Apocalyptic Argument and the Anticipation of Catastrophe: the Prediction of Risk and the Risks of Prediction

This essay proposes to extend the model of apocalyptic argument developedin my recent book Arguing the Apocalypse (OLeary, 1994) beyond the study ofreligious discourse, by applying this model to the debate over awell-publicized earthquake prediction that caused a widespread panic in theAmerican midwest in December, 1990. The first section of the essay willsummarize the essential elements of apocalyptic argument as I have earlierdefined them; the second section will apply the model to the case of the NewMadrid, Missouri, earthquake prediction, in order to demonstrate thatcertain patterns of reasoning characteristic of religious apocalyptic arepresent in the discourse over an anticipated local disaster. My ultimatepurpose is to show that predictions of global and local catastrophe mayserve as extreme cases that will illuminate the dynamics of predictiveargument in general. Thus my argument will seek to undercut Daniel Bellsdistinction between prophecy and prediction (Bell, 1973) by establishingthat these discourses share identifiable formal and substantivecharacteristics, and depend for their rhetorical effect on anxiety, hope,far, and excitement as modes of temporal anticipation.