The Concept of Abnormality in Medical Genetics

This paper explores usage of the concept ofabnormality in medical genetics and proposesdirectives for more careful usage of this concept.The conceptual difficulties are first explored, thena model is developed to assess actual usage, followedby analysis of a sample of genetic textbooks andgenetics literature. It appears that fact andvaluation are often intermingled, that referencestandards used to define 'genetic abnormalities' areoften not clear and that the concept of abnormality isoften used independent of the degree of certainty withwhich the altered genetype develops into a (seriously)harmful phenotype. On the basis of these findings itis argued that more restraint and more careful use ofthe concept of genetic abnormality of medical geneticsis appropriate as well as more agreement on the use ofreference standards.     

PARENTAL TRAINING OF THE PLURAL MORPHEME IN NORMAL TODDLERS1

Experimental studies with young normal children can provide useful strategy for the functional analysis of language. Research by Whitehurst (Journal of Experimental Child Psychology, 1972, 13 , 502–515) exemplifies this approach, in which 2-yr-old children were exposed to a training procedure that involved imitation and differential reinforcement for a two-word productive sequence of the adjective-noun form. Results indicated that these young children could be trained to produce rudimentary novel utterances that were grammatically appropriate. More recently, Hursh and Sherman (Journal of Experimental Child Psychology, 1973, 15 , 328–339) reported the existence of a functional relationship between parental modelling and reinforcement of vocalizations, and increased instances of these vocalizations in young (15- to 20-month-old) children. These demonstrations relate to a summary of findings with linguistically deviant populations discussed by Sherman (Advances in Child Development, 1971). The present study attempts to extend these “generative” investigations to normal children and to provide useful information for those interested in teaching speech forms to them. Modelling and differential reinforcement were used by three mothers to establish the use of the plural morpheme in the speech of their 19- to 25-month-old children. During training trials, verbal praise was presented contingent on correct labelling of singular and plural items, while correct labelling was modelled if the child responded incorrectly. Children learned to label specifically trained sets of singular and plural items and also exhibited correct labelling when asked to label never-trained singular and plural items. After establishing correct usage, the same training procedures were used to train reversed labelling (plural responses to single items and singular responses to plural items). This produced a corresponding reversal of responding (both trained and untrained items) by each child for the plural items but not for singular items. Correct singular and plural labelling was recovered by returning to the initial procedures.     

The Importance of Written Information Packages in Support of Case-Finding Within Families at Risk for Inherited High Cholesterol

Inherited High Cholesterol is treatable, but highly underdiagnosed. To detect undiagnosed blood relatives at a presymptomatic stage, in the Netherlands written information packages are available to facilitate family communication. To investigate the role of those packages in the detection of carriers, we conducted a qualitative evaluation (plus-minus method combined with semistructured interviews with index patients and relatives). Our data suggest that interviewees approved the family approach for finding carriers, although reluctantly. The packages aided family disclosure by reducing hesitation. However, index patients only informed first-degree relatives and generally communicated the risk only once. This may be due to the cultural context and a limited understanding of genetics. For relatives the packages served as a cue to action and as a legitimation to gain access to a diagnostic cholesterol test. Despite the value of these written materials, they should not be used as the only communication between index patient and relatives.     

Post-training amphetamine administration enhances memory consolidation in appetitive Pavlovian conditioning: Implications for drug addiction

It has been suggested that some of the addictive potential of psychostimulant drugs of abuse such as amphetamine may result from their ability to enhance memory for drug-related experiences through actions on memory consolidation. This experiment examined whether amphetamine can specifically enhance consolidation of memory for a Pavlovian association between a neutral conditioned stimulus (CS-a light) and a rewarding unconditioned stimulus (US-food), as Pavlovian conditioning of this sort plays a major role in drug addiction. Male Long-Evans rats were given six training sessions consisting of 8 CS presentations followed by delivery of the food into a recessed food cup. After the 1st, 3rd, and 5th session, rats received subcutaneous injections of amphetamine (1.0 or 2.0 mg/kg) or saline vehicle immediately following training. Conditioned responding was assessed using the percentage of time rats spent in the food cup during the CS relative to a pre-CS baseline period. Both amphetamine-treated groups showed significantly more selective conditioned responding than saline controls. In a control experiment, there were no differences among groups given saline, 1.0 or 2.0 mg/kg amphetamine 2 h post-training, suggesting that immediate post-training amphetamine enhanced performance specifically through actions on memory consolidation rather than through non-mnemonic processes. This procedure modeled Pavlovian learning involved in drug addiction, in which the emotional valence of a drug reward is transferred to neutral drug-predictive stimuli such as drug paraphernalia. These data suggest that amphetamine may contribute to its addictive potential through actions specifically on memory consolidation.     

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client.     

Sequential Down Syndrome Screening: The Importance of First and Second Trimester Test Correlations when Calculating Risk

Down syndrome screening can be particularly effective when both first and second trimester tests are performed. However, the counseling of women who have received sequential first and second trimester screening can be problematic. We evaluated an approximation where the post-test risk from the first trimester screening is used as the new a priori risk for the second trimester screening. The approximation disregards between-trimester test correlations. The Down syndrome detection rate based on the approximation (90.2%) would be close to that obtained when all correlations were considered (90.8%) but the false positive rate would be 26% higher (3.9% versus 3.1%, respectively). For any particular woman, the use of the approximation could result in highly inaccurate risks. We conclude that the correlations that exist between first and second trimester screening tests preclude the use of second trimester risks derived from the direct product of separate first and second trimester screening. Counseling issues in the delivery of sequential screening are discussed.     

Women’s Attitudes Toward Testing for Fragile X Carrier Status: A Qualitative Analysis

Fragile X syndrome (FXS) is primarily due to a repeat expansion mutation found in the FMR1 X-linked gene. We have conducted a qualitative analysis of responses from women concerning their attitudes toward testing for carrier status of the fragile X mutation among reproductive-age women. We obtained responses from focus groups including women with and without FXS in their families. We found the following themes: (1) mothers of children with FXS have difficulty formulating their opinions on population screening because of their unique experiences surrounding their own carrier diagnosis and their relationship with their children with FXS, (2) the motivation for carrier testing and need for information differ by family history of FXS and parental status, and (3) the timing of carrier testing with respect to a woman’s life stage dictates whether carrier information will be viewed as beneficial or detrimental. There was evidence that non-carrier women from the general population would be wholly unprepared for positive carrier results. These findings have significant implications for genetic counseling as well as for population screening.     

Oxford cognitive screen: A critical review and independent psychometric evaluation

The Oxford cognitive screen (OCS) is a stroke-specific cognitive screening assessment. Although the test developers have provided psychometric information for the assessment, the OCS has received minimal external scrutiny, with which to triangulate the underpinning psychometrics. The purpose of this study is to provide a critical review and independent validation of the OCS. This study analysed data from an anonymised clinical database, which consisted of 316 patients who were assessed using the OCS on an Acute Stroke Unit. The rates of impairment on tests of memory and receptive communication were lower than expectation, suggesting that these subtests may be relatively insensitive. Patients with aphasia were more likely to be unable to categorised as impaired on non-language tests, suggesting that they remain sensitive to language processing or non-dominant hand usage. Some of the subtests of the OCS achieve high retest reliability, which makes them good candidates for measuring cognitive change over time. Although the OCS has many advantages, it is also important to adequately consider its limitations, that is insensitivity to memory problems, the potential confounding impact of non-dominant hand usage, and the potential that some tests may sample overall cognitive ability instead of domain-specific functioning.     

Parenting stress and competence among mothers of young children with substance use disorders: The roles of trauma and reflective functioning

Posttraumatic stress symptoms are prominent in the lives of parents of young children with substance use disorders (SUD). Parenting experiences, particularly stress and competence, impact parenting behaviors and concomitant child growth and development. Factors that promote positive experiences of parenting, such as parental reflective functioning (PRF), and protect the mother and child from negative outcomes are crucial to understand to develop effective therapeutic interventions. The current US study analyzed baseline data from a parenting intervention evaluation to examine how length of substance misuse, PRF, and trauma symptoms were associated with parenting stress and parenting sense of competence among mothers in treatment for SUDs. Measures included the Addiction Severity Index, PTSD Symptom Scale-Self Report, Parental Reflective Functioning Questionnaire, Parenting Stress Index/Short Form, and Parenting Sense of Competence Scale. The sample included 54 predominantly White mothers with SUDs who had young children. Two multivariate regression analyses found that (1) lower parental reflective functioning and higher posttraumatic stress symptoms were associated with higher parenting stress, and (2) only higher posttraumatic stress symptoms were associated with lower levels of parenting sense of competence. Findings underscore the importance of addressing trauma symptoms and PRF when aiming to improve parenting experiences for women with an SUD.