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PubMed2000

Psychosocial care in advanced cancer.

In palliative care, the focus is management of major symptoms and complications, and psychosocial support of the patient and family. Approaching the end of life, the patient's needs move beyond physical care to include the psychological, social, and spiritual dimensions. The main psychosocial interventions are counseling, education, and practical services directed at the needs identified by the multidimensional/multidisciplinary assessments. We will present the roles of the various team members and methods of psychosocial assessment.

Humans↗

PubMed2006

Inactivating mutations of LH and FSH receptors--from genotype to phenotype.

The pituitary glycoprotein hormones, LH and FSH, and their receptors are essential for normal reproductive function in both sexes. Over the past 10 years, several inactivating mutations of the gonadotropin receptors have been described in rare forms of human primary gonadal disorders. Homozygous or compound heterozygous inactivating mutations of the LH receptor were associated with a rare autosomal recessive form of male pseudohermaphroditism (Leydig cell hypoplasia), micropenis and hypergonadotropic hypogonadism in genetic males. In addition, these mutations caused primary or secondary amenorrhea and infertility in women who were sisters of male pseudohermaphrodites. Similarly, FSH receptor inactivating mutations were associated with partial or complete phenotypes of premature ovarian failure in women. These inactivating mutations corroborate and extend our knowledge of clinical consequences of gonadotropin resistance and inappropriate gonadotropin action. In addition, the characterization of the molecular basis of gonadal resistance can be useful for directing therapy and for genetic counseling.

Genotype↗

PubMedDate not supplied

[Hypercholesterolemia: attitude and practices of general practitioners in Laval].

We surveyed via a mailed questionnaire physicians' attitudes and practices with regard to the screening, treatment and follow-up of hypercholesterolemia. The study was conducted in 1990-91 on the 255 generalists practicing in Laval (a suburb of Montreal) and achieved a 63% response rate. The results indicated that general practitioners were open to screening and treating their hypercholesterolemic patients. Physicians, however, noted a certain number of obstacles which affected their educational and therapeutic practices. The findings suggest that greater attention needs to be paid to helping physicians develop skills with respect to nutrition counselling. Future efforts should be directed at finding ways of integrating educational activities into primary care medicine.

Aftercare↗

PubMed2003

Genetic counselling and the intention to undergo prophylactic mastectomy: effects of a breast cancer risk assessment.

Scientific reports suggest that women at risk for familial breast cancer may benefit from prophylactic mastectomy. However, few data are available about how women decide upon this clinical option, and in particular, what role an objective risk assessment plays in this. The purpose of the present study is to assess whether this objective risk information provided in genetic counselling affects the intention for prophylactic mastectomy. Additionally, the (mediating) effects of breast cancer worry and perceived risk are investigated. A total of 241 women completed a questionnaire before and after receiving information about their familial lifetime breast cancer risk in a genetic counselling session. Path analysis showed that the objective risk information had a corrective effect on perceived risk (beta=0.38; P=0.0001), whereas the amount of breast cancer worry was not influenced by the counselling session. The objective risk information did not directly affect the intention for prophylactic mastectomy. The intention was influenced by perceived risk after counselling (beta=0.23; P=0.002), and by the precounselling levels of perceived risk (beta=0.27; P=0.00025) and breast cancer worry (beta=0.32; P=0.0001), that is, higher levels of perceived risk and breast cancer worry imply a stronger intention for prophylactic mastectomy. A personal history of breast cancer did not directly influence the intention for prophylactic mastectomy, but affected women who had undergone a mastectomy as surgical treatment were more positively inclined to have a prophylactic mastectomy than women who had had breast-conserving therapy. The impact of objective risk information on the intention for prophylactic mastectomy is limited and is mediated by perceived risk. Important determinants of the intention for prophylactic mastectomy were precounselling levels of breast cancer worry and perceived risk, suggesting that genetic counselling is only one event in the entire process of decision making. Therefore, interventions aimed at improving decision making on prophylactic mastectomy should explicitly address precounselling factors, such as personal beliefs and the psychological impact of the family medical history.

Adult↗

PubMed1999

Counseling families with a hearing-impaired child.

Parents are the linchpin of the family, and counseling for the young, newly diagnosed child with a hearing impairment needs to be directed at them. The operative rule for the counseling model described in this article is that feelings are neither good nor bad; they just are, and they need acknowledgment and acceptance, never judgment. Behavior can be judged as to whether or not it is productive, but parents never have to be responsible for how they feel. Armed with this nonjudgmental attitude toward emotions, the clinician can elicit them by empathetic listening.

Counseling↗

PubMed1979

Factors for improved genetic counseling for retinoblastoma based on a survey of 55 families.

Of 55 families in which one or more patients with retinoblastoma were treated, five of these families involved more than one patient. The remaining 50 were sporadic cases. Two of the five familial cases involved collateral inheritance and three involved direct inheritance. Factors important for genetic counseling included the time of onset of first symptoms, the age of the father, the occurrence of a second primary tumor, unilateral vs bilateral involvement, and the cytogenetic analysis of the patient's chromosomes. Additionally, mutational mosaicism was considered as a cause for sporadic cases of retinoblastoma. Use of the risk figures derived from this study should provide more precise genetic counseling for parents, siblings, and patients with retinoblastoma.

Adolescent↗

PubMed1987

Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis.

In April 1985, having completed a study of the short-term complications of chorionic villus sampling (CVS), we began a randomized comparison of CVS versus amniocentesis. Our study continued over a 15-month period, and during that time we had difficulty recruiting patients, with only 10.6% of 1254 women referred for prenatal diagnosis fully participating in this study. However, 30.2% of those eligible by dates and indication chose to enter the study. CVS was available in our province only through this study, and the two most common reasons for such a low rate of recruitment were reporting too late in pregnancy and the concern about the potential risks of CVS. Patients continued to seek counselling too late for CVS despite direct and continuous contact with regional physicians. Our patients' concern about risk might well vary with the attitude of their physicians towards CVS, and with the information provided at the time of pre-test counselling. The small number of patients actually enrolled did not permit any meaningful comparison of amniocentesis to CVS. However, our experience with pregnancies lost post-CVS suggests that a pregnancy with an apparent low implantation at the time of sampling may be at a higher risk of loss.

Adult↗

PubMed2006

The effects of nicotine gum and counseling among African American light smokers: a 2 x 2 factorial design.

AIM: Approximately 50% of African American smokers are light smokers (smoke < or = 10 cigarettes a day). The prevalence of light smoking in the United States is increasing, yet there has not been a single smoking cessation clinical trial targeting light smokers. The purpose of this 2 x 2 factorial, randomized clinical trial was to evaluate the efficacy of nicotine gum (2 mg versus placebo) and counseling (motivational interviewing versus health education) for African American light smokers. DESIGN: Participants were assigned randomly to one of four study arms: 2 mg nicotine gum plus health education (HE); 2 mg nicotine gum plus motivational interviewing (MI); placebo gum plus HE; and placebo gum plus MI. PARTICIPANTS AND SETTING: A total of 755 African American light smokers (66% female, mean age = 45) were enrolled at a community health center over a 16-month period. INTERVENTION AND MEASUREMENTS: Participants received an 8-week supply of nicotine gum and six counseling sessions during the course of the 26-week study. Biochemical measures included expired carbon monoxide (CO) and serum and salivary cotinine. FINDINGS: Seven-day quit rates for nicotine gum were no better than for the placebo group (14.2% versus 11.1%, P = 0.232) at 6 months. However, a counseling effect emerged, with HE performing significantly better than MI (16.7% versus 8.5%, P < 0.001). These results were consistent across outcome time-points (weeks 1, 8, and 26). CONCLUSIONS: Results highlight the potential positive impact of directive information and advice-oriented counseling on smoking cessation. Studies are needed to assess other interventions that may further improve quit rates among African American light smokers who are motivated to quit.

Adult↗

PubMed1995

Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene.

OBJECTIVE: Androgen insensitivity syndrome is a disorder of male sexual development which results in varying degrees of undervirilization in 46XY individuals with functional testes. In the most severe form, complete androgen insensitivity syndrome (CAIS), patients have a normal female appearance. Although CAIS is not life-threatening, affected individuals are infertile and require counselling, gonadectomy, hormone therapy, and sometimes vaginoplasty. Many families therefore request genetic counselling. Defects in the androgen receptor gene account for most if not all cases of CAIS. The purpose of this study was to evaluate the use of the polyglutamine and polyglycine trinucleotide repeat polymorphisms in the first exon of the androgen receptor gene for carrier status determination in three CAIS families. In two of these families novel mutations in the androgen receptor gene were subsequently identified which allowed confirmation of carrier status and also a prenatal diagnosis to be made in one family. PATIENTS: Three CAIS families were studied. The index cases all presented with a clinical phenotype typical of CAIS. MEASUREMENTS: Family members were typed initially for the polyglutamine repeat. In one family this was not informative and the polyglycine repeat was therefore studied. In this and one further family, the androgen receptor gene was sequenced to identify the mutation causing the CAIS. RESULTS: On the basis of information from trinucleotide repeat analysis carrier status could be assessed in each family. In one family, evidence for somatic instability of the polyglutamine repeat was found. In the same family, a novel mutation in the androgen receptor gene, which substituted valine for leucine 881, was identified. Other family members were subsequently typed for the mutation and a prenatal diagnosis was performed. A novel mutation was also identified in a second family substituting the glycine codon at position 371 with a stop codon. Other family members were typed for this mutation. CONCLUSIONS: Both the polyglutamine and polyglycine repeat polymorphisms are useful for the genetic counselling of complete androgen insensitivity syndrome families. In some cases, however, where the family history is limited, more precise information can be provided only once the androgen receptor mutation causing the complete androgen insensitivity syndrome has been identified.

Adolescent↗

PubMed2005

How do hired workers fare under consumer-directed personal care?

PURPOSE: This study describes the experiences of workers hired under consumer direction. DESIGN AND METHODS: Medicaid beneficiaries who volunteered for the Cash and Counseling demonstration were randomly assigned to the treatment group, which could participate in the consumer-directed program, or the control group, which was referred to agency care. Paid workers for both groups were surveyed about 10 months after demonstration enrollment. RESULTS: Directly hired workers for the treatment group were nearly always the consumers' friends or relatives. The two groups received similar wages and both were highly satisfied with their working conditions and the supervision they received. Compared with agency workers, directly hired workers who lived with or were related to the consumer were more likely to report emotional strain and a desire for more respect from the consumer's family; however, no such differences were observed for directly hired workers who were not relatives. Directly hired workers and agency workers providing comparable amounts of care reported similar levels of injury and physical strain, although directly hired workers received less formal training. IMPLICATIONS: The Cash and Counseling model does not appear to cause adverse consequences for the hired workers. Directly hired workers report high levels of job satisfaction and do not suffer physical or emotional hardship beyond what might be expected for individuals providing care to relatives. However, states might be able to reduce emotional strain and injuries by providing educational materials and referrals for consumers, their families, and workers, and by having counselors monitor workers' well-being.

Adolescent↗

PubMed2007

[Risk communication through genetic counselling: requirements and problems].

Genetic counselling is the single most important instrument for the individual communication of genetic risks. Beyond medical and psychosocial purposes in terms of preparing diagnostic measures and coping with results, genetic counselling also serves as a means to ensure the clients' decision autonomy through adequately informed consent. Accordingly, indispensable preconditions of the counselling process are voluntariness, individuality, non-directiveness, and respect of the right not to know. However, the requirement that any genetic diagnosis should be embedded into genet ic counselling is all too often neglected in today's reality of medicine. Consequently, there is urgent need of legislation ensuring mandatory counselling at least before prenatal and predictive genetic testing. Additionally, clear standards must be established and enforced for the quality of the counselling process as well as for the qualification of counsellors, and sufficient personal and institutional resources must be provided.

Communication↗

PubMed1991

Intervention program components.

It is evident that those delivering health promotional services need training not only in the technical aspects of their profession, but in terms of enhancement of their organizational and management skills as well. Tasks associated with testing, data analysis, life style prescription, counselling, education, and safe and effective direction of program functions obviously require a multi-faceted staff. Screening and testing of fitness/wellness program clients is designed to identify those who can safely participate with likelihood of achieving their goals. Data from these procedures are used to formulate exercise and nutritional prescriptions and to serve as motivation. Counselling and educational efforts are aimed at servicing special needs of clients, providing motivation, increasing program visibility in the community and at enhancing program adherence. In view of the fact that fitness/wellness programs affect the health of participants and that certain aspects of these programs are hazardous, well worked-out schemes for providing emergency assistance and for otherwise protecting participants from harm must be in line and well-practiced. This need is enhanced by the fact that fitness/wellness programs and those who are associated with them are legally liable for physiological and mechanical accidents that can be traced to negligence.

Body Composition↗

PubMedDate not supplied

Proband family uptake of familial-genetic counselling.

Familial-genetic counselling for breast/ovarian cancers is a process initiated by a proband, and designed for all her/his blood relatives. This study focused on family members' uptake of an invitation to participate in counselling as a function of proband and family determinants. Of 163 breast/ovarian syndrome families tested, 67 carrying one of the three known Jewish mutations were included. For both the proband and family members, demographic variables, cancer status, position in the family and type of referral (proband only) were examined. Eligible family members' uptake rate was 34%. Lower family uptake was associated with the proband having cancer, and/or being doctor-referred (vs self-referred). Individuals of either the proband's or older generations had lower uptake rates compared with family members of younger generations. Being a cancer patient or a first degree relative of either a cancer patient or the proband was related to higher uptake. The study results indicate that baseline information routinely gathered by counselling services can be useful in predicting uptake. Providing insight into complex barriers to genetic counselling, these results also suggest potential directions for interventions to improve uptake, thereby enhancing individuals' abilities to make informed decisions regarding issues such as genetic testing.

Adult↗

PubMedDate not supplied

A randomized trial comparing human e-mail counseling, computer-automated tailored counseling, and no counseling in an Internet weight loss program.

BACKGROUND: Several studies have shown that e-mail counseling improves weight loss achieved in self-directed Internet programs. Computer-tailored feedback offers a population-based alternative to human e-mail counseling. METHODS: One hundred ninety-two adults, aged 49.2 +/- 9.8 years, having a body mass index (calculated as weight in kilograms divided by height in meters squared) of 32.7 +/- 3.5, were randomized to 1 of 3 Internet treatment groups: No counseling, computer-automated feedback, or human e-mail counseling. All participants received 1 weight loss group session, coupons for meal replacements, and access to an interactive Web site. The human e-mail counseling and computer-automated feedback groups also had access to an electronic diary and message board. The human e-mail counseling group received weekly e-mail feedback from a counselor, and the computer-automated feedback group received automated, tailored messages. RESULTS: Retention was 82% at 3 months and 80% at 6 months for all 3 groups. At 3 months, completers in both the computer-automated feedback (-5.3 +/- 4.2 kg) and human e-mail counseling (-6.1 +/- 3.9 kg) groups had significantly greater weight losses compared with the no counseling group (-2.8 +/- 3.5 kg) and these groups did not differ from each other. At 6 months, weight losses were significantly greater in the human e-mail counseling group (-7.3 +/- 6.2 kg) than in the computer-automated feedback (-4.9 +/- 5.9 kg) or no counseling (-2.6 +/- 5.7 kg) groups. Intent-to-treat analyses using single or multiple imputation techniques showed the same pattern of significance. CONCLUSIONS: Providing automated computer-tailored feedback in an Internet weight loss program was as effective as human e-mail counseling at 3 months. Further research is needed to improve the efficacy of automated computer-tailored feedback as a population-based weight loss approach.

Adult↗

PubMed1992

Fertility and pregnancy in patients with cystic fibrosis.

Issues related to fertility and pregnancy, once moot, are now extremely relevant to the care of a growing number of CF patients entering adulthood. With rare exception, men are infertile, due to the almost universal presence of malformations of the reproductive tract causing obstructive azoospermia. Emphasis in the care of these patients should be directed toward confirmation of infertility and counseling to allay anxieties. In contrast, a significant albeit unknown proportion of women are fertile and a steadily increasing number of these women are conceiving. The accumulated clinical experience has demonstrated that pregnancy is well-tolerated by patients with mild disease while associated with increased maternal and fetal complications in those with severe disease. In light of current uncertainties in accurately predicting outcome in all but the most clear-cut cases, the physician must exercise clinical judgment in providing a realistic assessment of the medical risks involved and of the advisability of pregnancy. This assessment should be based on a thorough and objective evaluation of the pulmonary, cardiac, and nutritional status of the patient. Future efforts, assisted by data collected for the national CF patient registry, should be directed toward better defining the long-term impact of pregnancy on the natural history of CF and more precisely defining the pregravid parameters useful in predicting outcome for both mother and child.

Counseling↗

PubMed2005

Educating genetic counselors in Australia: developing an international perspective.

The demand for genetic counseling services is increasing worldwide. This paper highlights the Australian experience of genetic counselor education and the history of the profession. The relevance of local factors, including the health care system, the education system and the small population in the evolution of the 1-year training programs are considered as an alternative model for emerging programs. The development of the education and training processes compared to that of other countries namely the United States of America (USA), the United Kingdom (UK) and Canada is discussed. The importance of international collaborations between the programs, to facilitate academic discussion and possible curriculum innovations, and to maintain professional understanding between genetic counselors is emphasized. Core genetic counseling competencies have been published for the UK and USA and an Australian set is proposed. In conclusion future directions are considered, including international issues around genetic counseling certification, reciprocity, and the potential for an Australian role in training genetic counselors in South East Asia.

Australia↗

PubMed2000

The direct and indirect effects of cost-sharing on the use of preventive services.

OBJECTIVE: To test empirically a model for estimating the direct and indirect effects of different forms of cost-sharing on the utilization of recommended clinical preventive services. DATA SOURCES/SETTINGS: Stratified random sample of 10,872 employees, 18-64 years, who had belonged to their plan for at least one year, from seven large companies that were members of the Pacific Business Group on Health (PBGH) in 1994. DATA COLLECTION: The 1994 PBGH Health Plan Value Check Survey. 1994 PBGH data on requirements for employee out-of-pocket patient cost-sharing for 52 different health plans. DESIGN: Five equations were derived to estimate the direct and indirect effects of two forms of cost-sharing (copayments and coinsurance/deductibles) in two forms of managed care (HMOs and PPO/indemnity plans) on four clinical preventive services: mammography screening, cervical cancer screening, blood pressure screening, and preventive counseling. Probit models were used to estimate elasticities for the indirect and direct effects. PRINCIPAL FINDINGS: Both forms of cost-sharing in both plan types had negative and significant indirect effects on preventive counseling (from -1 percent to -7 percent). The direct effect of cost-sharing was negative for preventive counseling (-5 percent to -9 percent) and Pap smears (from -3 percent to -9 percent) in both HMOs and PPOs, and for mammography only in PPOs (-3 percent to -9 percent). The results of the effects on blood pressure screening are inconclusive. CONCLUSIONS: Both the direct and indirect effects of cost-sharing negatively affected the receipt of preventive counseling in HMOs and PPOs. As predicted, the direct negative effect of cost-sharing was greater than the indirect effect for Pap smears and mammography. Eliminating cost-sharing for these services may be important to increasing their utilization to recommended levels.

Adolescent↗

PubMed2006

Effect of type of noise and loudspeaker array on the performance of omnidirectional and directional microphones.

Differences in performance between omnidirectional and directional microphones were evaluated between two loudspeaker conditions (single loudspeaker at 180 degrees; diffuse using eight loudspeakers set 45 degrees apart) and two types of noise (steady-state HINT noise; R-Space restaurant noise). Twenty-five participants were fit bilaterally with Phonak Perseo hearing aids using the manufacturer's recommended procedure. After wearing the hearing aids for one week, the parameters were fine-tuned based on subjective comments. Four weeks later, differences in performance between omnidirectional and directional microphones were assessed using HINT sentences presented at 0 degrees with the two types of background noise held constant at 65 dBA and under the two loudspeaker conditions. Results revealed significant differences in Reception Thresholds for Sentences (RTS in dB) where directional performance was significantly better than omnidirectional. Performance in the 180 degrees condition was significantly better than the diffuse condition, and performance was significantly better using the HINT noise in comparison to the R-Space restaurant noise. In addition, results revealed that within each loudspeaker array, performance was significantly better for the directional microphone. Looking across loudspeaker arrays, however, significant differences were not present in omnidirectional performance, but directional performance was significantly better in the 180 degrees condition when compared to the diffuse condition. These findings are discussed in terms of results reported in the past and counseling patients on the potential advantages of directional microphones as the listening situation and type of noise changes.

Aged↗