Heredity of progressive muscular dystrophy: Reflections on a case study

Abstract

Data on the prevalence of divorce and separation among parents of children with cystic fibrosis and other chronic diseases indicate that marital breakdown is no more prevalent among these couples than it is in a general population. For couples who attended genetic counseling clinics or had children with spina bifida or leukemia, the divorce rate is lower than the United States national average. For parents of children with cystic fibrosis, the divorce rate is the same as the national average. The high recurrence risk for cystic fibrosis may deter many parents from further reproduction. We speculate that the inability to plan more children may be the factor responsible for the higher prevalence of divorce among these parents compared to those of children with other chronic diseases.     

Factors influencing genetic counseling attendance rate: A geographically based study

Abstract

A study of factors influencing genetic counseling attendance rate has been conducted in the Bouches‐du‐Rhône area, in the south of France. In this area, a birth defects monitoring system (Eurocat n°22) annually covers 23,000 births. All the genetic services are delivered by only one genetic center located in Marseilles, and the data collected are computerized. The comparison of these two data bases gives an opportunity to estimate the rate of genetic counseling attendance after the occurrence of an affected stillbirth or live birth. Among the parents of 358 infants born in 1983–84 in this area with a pathology requiring genetic counseling, 226 (63 per cent) attended the Genetic Center within the first year after birth. The rate of attendance is statistically higher (p < 0.01) for the parents who had a stillbirth (78 per cent) than for those who had a live birth (57 per cent). It is also higher (p < 0.01) for the Marseilles maternities group (68 per cent) than for the group outside Marseilles (50 per cent). The referral delays are also analyzed according to malformation etiology and to viability of the child by the eighth day of lue. Besides evaluating a particular genetic center's effectiveness in diffusing information to the public concerned, this work shows that couples’ request is strongly dependent on a psychological need.     

Genetic screening and genetic counseling: Knowledge,attitudes, and practices in two groups of family planning professionals

Abstract

Genetic counseling has evolved from a eugenic orientation to an orientation concerned with the physical and mental well‐being of counselees. This change in genetic counseling, which has received formal recognition in a new definition of genetic counseling, requires collateral development of the processes and evaluation of the outcomes of counseling. This paper offers a theory of genetic counseling which interrelates genetic information, psychological responses, learning theory, and decision‐making. The theory presented for genetic counseling is based on the more general theories of learning, decision‐making, and adaptation to psychological stress. This theory is extended into a practical model that provides a comprehensive explanation of the relationships between the activities of genetic counseling and informed decision‐making, which is assumed to be a major element of healthy counselee adjustment. Implications of this theory for the genetic counselor, the counselee, and the assessment of clinical and program success are discussed.     

Intrauterine diagnosis and genetic counseling in psychiatry

Abstract

Genetic counseling has an important place in the care and follow‐up of patients and families with disorders of mental development and of mental function. Amniocentesis, obtaining a small amount of amniotic fluid with fetal cells for biochemical and chromosomal tests, has greatly advanced the precision of genetic counseling for a growing list of testable conditions. Currently, the major indications are the Down syndrome (trisomy 21), numerous rare inborn errors of metabolism, and neural tube closure defects in “high‐risk” families. In the future, additional behavioral syndromes associated with abnormal chromosomes or biochemical markers may be suitable for such very early detection. The social and psychological problems arising in testing and counseling for genetic and chromosomal diseases require wider recognition.     

News notes

Abstract

This paper is concerned with the efficacy of genetic counseling with respect to schizophrenia. Evidence for the genetic basis of schizophrenia is reviewed, as are data demonstrating increases in the marital and reproductive rates of schizophrenic patients. The dilemmas of genetic counseling are discussed, and a strategy for early identification of individuals with a predisposition to schizophrenia is described.     

Email submissions from outside the United Kingdom

ObjectivesTo identify whether psychiatric disturbance in parentally bereaved children and surviving parents is related to service provision.DesignProspective case-control study.SettingTwo adjacent outer London health authorities. Participants45 bereaved families with children aged 2 to 16 years.ResultsParentally bereaved children and surviving parents showed higher than expected levels of psychiatric difficulties. Boys were more affected than girls, and bereaved mothers had more mental health difficulties than bereaved fathers. Levels of psychiatric disturbance in children were higher when parents showed probable psychiatric disorder. Service provision related to the age of the children and the manner of parental death. Children under 5 years of age were less likely to be offered services than older children even though their parents desired it. Children were significantly more likely to be offered services when the parent had committed suicide or when the death was expected. Children least likely to receive service support were those who were not in touch with services before parental death.ConclusionsService provision was not significantly related to parental wishes or to level of psychiatric disturbance in parents or children. There is a role for general practitioners and primary care workers in identifying psychologically distressed surviving parents whose children may be psychiatrically disturbed, and referring them to appropriate services.

Key messages

• Parentally bereaved children show high levels of psychological disturbance, with boys being more vulnerable than girls
• Surviving mothers show more psychiatric morbidity than surviving fathers
• Psychological distress in bereaved parents is associated with psychological difficulties in their children
• Service provision for bereaved children is not determined by mental health difficulties in either parents or children, or by parental wishes; it is influenced only by the manner of parental death and the age of the child
• The mismatch between need and service provision indicates a role for general practitioners and primary care workers in identifying distressed or disturbed families in need of public or voluntary service help

     

Effect and Process Evaluation of a Cluster Randomized Control Trial on Water Intake and Beverage Consumption in Preschoolers from Six European Countries: The ToyBox-Study

BackgroundWithin the ToyBox-study, a kindergarten-based, family-involved intervention was developed to prevent overweight and obesity in European preschoolers, targeting four key behaviours related to early childhood obesity, including water consumption. The present study aimed to examine the effect of the ToyBox-intervention (cluster randomized controlled trial) on water intake and beverage consumption in European preschoolers and to investigate if the intervention effects differed by implementation score of kindergartens and parents/caregivers.MethodA sample of 4964 preschoolers (4.7±0.4 years; 51.5% boys) from six European countries (Belgium, Bulgaria, Germany, Greece, Poland, Spain) was included in the data analyses. A standardized protocol was used and parents/caregivers filled in socio-demographic data and a food-frequency questionnaire. To assess intervention effects, multilevel repeated measures analyses were conducted for the total sample and for the six country-specific samples. Based on the process evaluation questionnaire of teachers and parents/caregivers, an implementation score was constructed. To assess differences in water intake and beverage consumption by implementation score in the total sample, multilevel repeated measures analyses were performed.ResultsLimited intervention effects on water intake from beverages and overall beverage consumption were found. However, important results were found on prepacked fruit juice consumption, with a larger decrease in the intervention group compared to the control group. However, also a decline in plain milk consumption was found. Implementation scores were rather low in both kindergartens and parents/caregivers. Nevertheless, more favorable effects on beverage choices were found in preschoolers whose parents/caregivers and kindergarten teachers had higher implementation scores compared to those with lower implementation scores.ConclusionThe ToyBox-intervention can provide the basis for the development of more tailor-made interventions. However, new strategies to improve implementation of interventions should be created.     

Genetic counseling as an occupational specialty: A sociological perspective

Abstract

Observations of client‐counselor interaction during genetic counseling sessions at a metropolitan hospital on the West Coast identified five major problems with which genetic counselors had to deal. Their clients needed: (1) a diagnosis of the disease condition; (2) an evaluation of the genetic nature of the condition; (3) to be taught biomedical information; (4) assistance in coping with psychological stress; and (5) information on available community resources and social service support. The genetic counselors under observation tended to satisfy the clients’ first two needs, the need for a diagnosis and for a genetic evaluation, but they tended not to satisfy the clients’ needs in the areas of education and psychosocial counseling. Genetic counseling appears to demand a synthesis of five different professional skills, those of the medical doctor, the geneticist, the educator, the psychotherapist, and the social worker. These findings are discussed in terms of their relevance for creating programs for training genetic counselors.     

Periodical abstracts

Abstract

This research analyzed physicians’ attitudes toward and use of genetic counseling. Data were obtained through mailed questionnaires sent to all 445 general and family practitioners, pediatricians, and obstetrician‐gynecologists in private practice and involved in direct patient care in Maricopa and Pima Counties, Arizona. Results indicated strong attitudinal support for genetic counseling. Almost all respondents felt that it was a useful and necessary medical service, and most felt that it resulted in more responsible patient decisions. Actual genetic counseling by physicians was comparatively rare, however. The data suggested that the paucity of counseling may have derived from a lack of training in genetics, scarcity of patient requests, and legal naïveté. Genetic counseling, amniocentesis, and abortion received the most support from younger physicians, obstetrician‐gynecologists, and those who were Jewish, less religious, and had few or no children.     

Stocking the Genetic Supermarket: Reproductive Genetic Technologies and Collective Action Problems

Reproductive genetic technologies (RGTs) allow parents to decide whether their future children will have or lack certain genetic predispositions. A popular model that has been proposed for regulating access to RGTs is the ‘genetic supermarket’. In the genetic supermarket, parents are free to make decisions about which genes to select for their children with little state interference. One possible consequence of the genetic supermarket is that collective action problems will arise: if rational individuals use the genetic supermarket in isolation from one another, this may have a negative effect on society as a whole, including future generations. In this article we argue that RGTs targeting height, innate immunity, and certain cognitive traits could lead to collective action problems. We then discuss whether this risk could in principle justify state intervention in the genetic supermarket. We argue that there is a plausible prima facie case for the view that such state intervention would be justified and respond to a number of arguments that might be adduced against that view.     

Report on the Moscow symposium on biological research in schizophrenia

Abstract

Genetic counseling, second trimester amniocentesis, reliable techniques for analyzing fetal amniotic fluid and selective abortion together have the potential to prevent a variety of serious birth defects. Advances in technique and/or changing patterns of childbearing may place a large number of women in age groups where genetic counseling programs are recommended. However, attitudes toward abortion may be a critical variable in ascertaining the potential of genetic counseling programs to reduce birth defects. If opposition to abortion is based on a moral commitment, greater awareness of genetic counseling programs will lead to opposition to these programs. If attitudes toward abortion are based upon an evaluative process, such opposition is less likely to occur. Using a sample of women from the Rochester, New York, area (N = 1,616) whose attitudes toward abortion match U.S. estimates, we find that the greater the knowledge about prenatal screening, the less prevalent are attitudes opposed to abortion in circumstances necessary for birth defect reduction. This relationship holds when controlled for religion and family size. We conclude that educational and counseling programs concerning the potential benefits of prenatal screening are unlikely to arouse opposition to these programs.     

Genetic counseling and the presenile dementias

Abstract

The clinical application of genetic counseling techniques to the presenile dementing illnesses is discussed, using examples. The problems encountered in adult‐onset illness are very different from those seen in illnesses affecting children. Some general guidelines and some specific ones are presented.     

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing

Here we present a case of an asymptomatic 53-year-old woman who sought genetic testing for Familial Creutzfeldt-Jakob Disease (fCJD) after learning that her mother had fCJD. The patient's mother had a sudden onset of memory problems and rapidly deteriorating mental faculties in her late 70s, which led to difficulties ambulating, progressive non-fluent aphasia, dysphagia and death within ～1 y of symptom onset. The cause of death was reported as “rapid onset dementia.” The patient's family, unhappy with the vague diagnosis, researched prion disorders online and aggressively pursued causation and submitted frozen brain tissue from the mother to the National Prion Disease Surveillance Center, where testing revealed a previously described 5-octapeptide repeat insertion (5-OPRI) in the prion protein gene (PRNP) that is known to cause fCJD. The family had additional questions about the implications of this result and thus independently sought out genetic counseling.

?While rare, fCJD is likely underdiagnosed due to clinical heterogeneity, rapid onset, early non-specific symptomatology, and overlap in the differential diagnosis of Alzheimer disease and Lewy body dementias. When fCJD is identified, a multidisciplinary approach to return of results that includes the affected patient's provider, genetics professionals, and mental health professionals is key to the care of the family. We present an example case which discusses the psychosocial issues encountered and the role of genetic counseling in presymptomatic testing for incurable neurodegenerative conditions. Ordering physicians should be aware of the basic issues surrounding presymptomatic genetic testing and identify local genetic counseling resources for their patients.     

临床医生在基因检测咨询中面对伦理两难问题态度与选择 ——基于情景案例分析

目的 通过情景案例分析,聚焦基因检测咨询中的伦理两难事件,探究临床医生的伦理道德抉择及可能的影响因素。 方法 采用分层随机抽样方法,对624名临床医生进行了匿名问卷调查。 结果 对于XY染色体女性案件,88%的应答者选择告知敏感性信息;对于父系信息的披露,近60%的应答者选择单独告诉母亲;对于是否告知患儿其他亲属相关遗传病信息的案件,应答者的意见则相对分散。 结论 针对三个典型的基因检测咨询中的伦理两难问题,应结合国际相关指南的要求,进一步加大相关的法律与伦理理念、知识的教育与普及。     

Cancer Genetics Education in a Low- to Middle-Income Country: Evaluation of an Interactive Workshop for Clinicians in Kenya

Background

Clinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing is limited and genetic counseling is virtually non-existent. Genetic testing is likely to become widespread in Kenya within the next decade, yet there has not been a concomitant increase in genetic counseling resources. To address this gap, we designed an interactive workshop for clinicians in Kenya focused on the genetics of the childhood eye cancer retinoblastoma. The objectives were to increase retinoblastoma genetics knowledge, build genetic counseling skills and increase confidence in those skills.

Methods

The workshop was conducted at the 2013 Kenyan National Retinoblastoma Strategy meeting. It included a retinoblastoma genetics presentation, small group discussion of case studies and genetic counseling role-play. Knowledge was assessed by standardized test, and genetic counseling skills and confidence by questionnaire.

Results

Knowledge increased significantly post-workshop, driven by increased knowledge of retinoblastoma causative genetics. One-year post-workshop, participant knowledge had returned to baseline, indicating that knowledge retention requires more frequent reinforcement. Participants reported feeling more confident discussing genetics with patients, and had integrated more genetic counseling into patient interactions.

Conclusion

A comprehensive retinoblastoma genetics workshop can increase the knowledge and skills necessary for effective retinoblastoma genetic counseling.     

Regulation of offspring and the Roman Catholic Church

Abstract

The 1976 enactment of the National Sickle Cell Anemia, Cooley's Anemia, Tay‐Sachs, and Genetic Disease Act may mark the emergence of a national policy on mass genetic screening. The law includes provisions intended to protect persons who are tested for genetic traits in screening programs operated with government funds. Two key features are (1) guaranteed access to competent genetic counseling and (2) strict confidentiality of test results. Because genetic screening will be conducted through state public health departments, I surveyed the states to determine how they were currently providing access to genetic counseling and protection of genetic data. The responses indicated that (1) there is an extreme heterogeneity of counseling services, and (2) that most states have not developed programs to safeguard genetic data.     

Population differences in vision acuity: A review,with speculative notes on selection relaxation

Abstract

The contrast between the lower frequencies of vision defects reported among several different samples of hunting populations and the higher frequencies found repeatedly among populations with relatively long histories of agriculture and settled habitations points strongly to the relaxation of natural selection. Two rough estimates of the heritability of that conglomeration of genetic entities comprising “vision defects” are found in studies of MZ versus DZ twins and in studies of offspring of consanguineous parents versus those of unrelated parents. The hypothesis of relaxation of natural selection is plausible as man developed culture habitats more tolerant of persons with slight refractive aberrations. One can reasonably imagine that hereditary deficiencies accumulated sufficiently under such conditions to make possible quantitative estimates of differential population frequencies.     

Parental attitudes toward genetic testing for pediatric deafness

Recent molecular genetic advances have resulted in genetic testing becoming an option for deaf individuals and their families. However, there is little information about the interest in such testing. To investigate this issue, parents with normal hearing who have one or more deaf children were surveyed about their attitudes toward diagnostic, carrier, and prenatal genetic testing for deafness. This population was chosen because it represents the majority of individuals who are encountered in clinical practice, given that 90%-95% of deaf individuals are born to persons with normal hearing. Of 328 surveys distributed, 96 were completed and returned. Of the respondents, 96% recorded a positive attitude toward genetic testing for deafness, including prenatal testing, although none would use this information to terminate an affected pregnancy. All respondents had a poor understanding of genetics, with 98% both incorrectly estimating the recurrence risk of deafness and misunderstanding the concept of inheritance. Notably, these findings were similar in the group who had had genetic testing for their children and in the group who had not, suggesting either that the parents who received genetic testing did not receive genetic counseling or that the counseling was not effective. On the basis of these results, it was concluded that this population is interested in the use of genetic testing and that testing should not be done without first providing formal genetic counseling. Appropriate counseling can help parents to understand the risks, benefits, and limitations of genetic testing.     

Family-Based Cluster Randomized Controlled Trial Enhancing Physical Activity and Motor Competence in 4–7-Year-Old Children

Little is known of how to involve families in physical activity (PA) interventions for children. In this cluster randomized controlled trial, we recruited families with four- to seven-year-old children to participate in a year-long study where parents in the intervention group families (n = 46) received tailored counseling to increase children’s PA. Structured PA was not served. Control group families (n = 45) did not receive any counseling. PA in all children (n = 91; mean age 6.16 ± 1.13 years at the baseline) was measured by accelerometers at the baseline and after three, six, nine and 12 months. Motor competence (MC) (n = 89) was measured at the baseline and after six and 12 months by a KTK (KörperkoordinationsTest für Kinder) and throwing and catching a ball (TCB) protocols. The effect of parental counseling on study outcomes was analyzed by a linear mixed-effects model fit by REML and by a Mann-Whitney U test in the case of the TCB. As season was hypothesized to affect counseling effect, an interaction of season on the study outcomes was examined. The results show significant decrease of MVPA in the intervention group when compared to the control group (p < .05). The TCB showed a nearly significant improvement at six months in the intervention group compared to the controls (p = .051), but not at 12 months. The intervention group had a steadier development of the KTK when the interaction of season was taken into account. In conclusion, more knowledge of family constructs associating with the effectiveness of counseling is needed for understanding how to enhance PA in children by parents. However, a hypothesis may be put forward that family-based counseling during an inactive season rather than an active season may provide a more lasting effect on the development of KTK in children.

Trial Registration

Controlled-Trials.com ISRCTN28668090     

Effectiveness of a Universal Parental Support Programme to Promote Healthy Dietary Habits and Physical Activity and to Prevent Overweight and Obesity in 6-Year-Old Children: The Healthy School Start Study,a Cluster-Randomised Controlled Trial

ObjectiveTo develop and evaluate the effectiveness of a parental support programme to promote healthy dietary and physical activity habits and to prevent overweight and obesity in Swedish children.MethodsA cluster-randomised controlled trial was carried out in areas with low to medium socio-economic status. Participants were six-year-old children (n = 243) and their parents. Fourteen pre-school classes were randomly assigned to intervention (n = 7) and control groups (n = 7). The intervention lasted for 6 months and included: 1) Health information for parents, 2) Motivational Interviewing with parents and 3) Teacher-led classroom activities with children. Physical activity was measured by accelerometry, dietary and physical activity habits and parental self-efficacy through a questionnaire. Body weight and height were measured and BMI standard deviation score was calculated. Measurements were conducted at baseline, post-intervention and at 6-months follow-up. Group differences were examined using analysis of covariance and Poisson regression, adjusted for gender and baseline values.ResultsThere was no significant intervention effect in the primary outcome physical activity. Sub-group analyses showed a significant gender-group interaction in total physical activity (TPA), with girls in the intervention group demonstrating higher TPA during weekends (p = 0.04), as well as in sedentary time, with boys showing more sedentary time in the intervention group (p = 0.03). There was a significantly higher vegetable intake (0.26 servings) in the intervention group compared to the control group (p = 0.003). At follow-up, sub-group analyses showed a sustained effect for boys. The intervention did not affect the prevalence of overweight or obesity.ConclusionsIt is possible to influence vegetable intake in children and girls’ physical activity through a parental support programme. The programme needs to be intensified in order to increase effectiveness and sustain the effects long-term. These findings are an important contribution to the further development of evidence-based parental support programmes to prevent overweight and obesity in children.

Trial Registration

Controlled-trials.com ISRCTN32750699