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PubMed2006

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

PURPOSE: To survey families with clinical evidence of autosomal dominant retinitis pigmentosa (adRP) for mutations in genes known to cause adRP. METHODS: Two hundred adRP families, drawn from a cohort of more than 400 potential families, were selected by analysis of pedigrees. Minimum criteria for inclusion in the adRP cohort included either evidence of at least three generations of affected individuals or two generations with evidence of male-to-male transmission. Probands from each family were screened for mutations in 13 genes known to cause adRP: CA4, CRX, FSCN2, IMPDH1, NRL, PRPF3 (RP18), PRPF8 (RP13), PRPF31 (RP11), RDS, RHO, ROM1, RP1, and RP9. Families without mutations in autosomal genes and in which an X-linked mode of inheritance could not be excluded were tested for mutations in ORF 15 of X-linked RPGR. Potentially pathogenic variants were evaluated based on a variety of genetic and computational criteria, to confirm or exclude pathogenicity. RESULTS: A total of 82 distinct, rare (nonpolymorphic) variants were detected among the genes tested. Of these, 57 are clearly pathogenic based on multiple criteria, 10 are probably pathogenic, and 15 are probably benign. In the cohort of 200 families, 94 (47%) have one of the clearly pathogenic variants and 10 (5%) have one of the probably pathogenic variants. One family (0.5%) has digenic RDS-ROM1 mutations. Two families (1%) have a pathogenic RPGR mutation, indicating that families with apparent autosomal transmission of RP may actually have X-linked genetic disease. Thus, 107 families (53.5%) have mutations in known genes, leaving 93 whose underlying cause is still unknown. CONCLUSIONS: Together, the known adRP genes account for retinal disease in approximately half of the families in this survey, mostly Americans of European origin. Among the adRP genes, IMPDH1, PRPF8, PRPF31, RDS, RHO, and RP1 each accounts for more than 2% of the total; CRX, PRPF3, and RPGR each accounts for roughly 1%. Disease-causing mutations were not found in CA4, FSCN2, NRL, or RP9. Because some mutations are frequent and some regions are more likely to harbor mutations than others, more than two thirds of the detected mutations can be found by screening less than 10% of the total gene sequences. Among the remaining families, mutations may lie in regions of known genes that were not tested, mutations may not be detectable by PCR-based sequencing, or other loci may be involved.

DNA Mutational Analysis↗

PubMed2006

Multiple-family group treatment for English- and Vietnamese-speaking families living with schizophrenia.

OBJECTIVE: This study, which was the first evaluation in Australia of multiple-family group treatment, explored the effectiveness of this approach for a newly arrived non-English speaking migrant group, first-generation Vietnamese families, and for English-speaking families. METHODS: Thirty-four pairs of English-speaking consumers and family members and 25 Vietnamese-speaking pairs were randomly assigned to a multiple-family group or a control group. All consumers had a diagnosis of schizophrenia. The multiple-family group intervention (26 sessions over 12 months) was delivered as an adjunct to case management services, which all consumers received. Outcomes, which were measured immediately after treatment and 18 months later, included the number of relapse episodes; the presence and severity of symptoms, as measured by the Brief Psychiatric Rating Scale (BPRS) and the Scale for the Assessment of Negative Symptoms; and social functioning, as measured by the Family Burden Scale, the Health of the Nation Outcome Scale, and the Quality of Life Scale. RESULTS: Relapse rates immediately after treatment were significantly lower for the multiple-family group than for the control group (12 and 36 percent), and relapse rates were also lower during the follow-up period (25 and 63 percent). BPRS ratings were significantly lower for participants in the multiple-family group, and vocational outcomes also improved. The reductions in relapse and symptoms were similar for the English-speaking and the Vietnamese-speaking family groups; sample size precluded statistical analysis of differences. CONCLUSIONS: Multiple-family group treatment is an effective cognitive-behavioral intervention in the treatment of schizophrenia. The findings suggest continued application of and research on family interventions for non-English speaking migrant populations.

Adult↗

PubMed2000

Comparison of family therapy and family group psychoeducation in adolescents with anorexia nervosa.

OBJECTIVE: To compare the effects of 4 months of 2 family-oriented treatments, family therapy and family psychoeducation, on female adolescents with newly diagnosed restrictive eating disorders. METHOD: Twenty-five female adolescents requiring hospitalization were randomized into either family therapy or family group psychoeducation. Outcome measures included medical (body weight) and psychosocial (specific and nonspecific eating disorder psychopathology) variables at baseline and after 4 months of treatments every 2 weeks. RESULTS: A significant time effect was found in both treatment groups for the restoration of body weight (percentage of ideal body weight, P < 0.00001). The group averages ranged from 75% to 77% ideal body weight before treatment to 91% to 96% after it. A time effect was also seen on the Family Assessment Measure (P < 0.018), in that the patients of both groups acknowledged more family psychopathology at the end of treatment. No significant group differences were found on any of the self-report measures of specific and nonspecific eating disorder pathology. CONCLUSIONS: Weight restoration was achieved following the 4-month period of treatment in both the family therapy and family psychoeducation groups, but no significant change was reported in psychological functioning by either adolescents or parents. Family group psychoeducation, the less expensive form of treatment, is an equally effective method of providing family-oriented treatment to newly diagnosed, medically compromised anorexia nervosa patients and their families.

Adolescent↗

PubMed1989

A family approach to cardiovascular risk reduction: results from the San Diego Family Health Project.

The effectiveness of a family-based cardiovascular disease risk reduction intervention was evaluated in two ethnic groups. Participants were 206 healthy, volunteer low-to-middle-income Mexican-American and non-Hispanic white (Anglo-American) families (623 individuals), each with a fifth or a sixth-grade child. Families were recruited through elementary schools. Half of the families were randomized to a year-long educational intervention designed to decrease the whole family's intake of high salt, high fat foods, and to increase their regular physical activity. Eighty-nine percent of the enrolled families were measured at the 24-month follow-up. Both Mexican- and Anglo-American families in the experimental groups gained significantly more knowledge of the skills required to change dietary and exercise habits than did those in the control groups. Experimental families in both ethnic groups reported improved eating habits on a food frequency index. Anglo families reported lower total fat and sodium intake. There were no significant group differences in reported physical activity or in tested cardiovascular fitness levels. Significant differences for Anglo-American experimental vs. control adult subjects were found for LDL cholesterol. Significant intervention-control differences ranging from 2.2 to 3.4 mmHg systolic and/or diastolic blood pressure were found in all subgroups. Direct observation of diet and physical activity behaviors in a structured environment suggested generalization of behavior changes. There was evidence that behavior change persisted one year beyond the completion of the intervention program. It is concluded that involvement of families utilizing school based resources is feasible and effective. Future studies should focus on the most cost-effective methods of family involvement, and the potential for additive effects when family strategies are combined with other school health education programs.

Adolescent↗

PubMed1984

The process of recovery from alcoholism: III. Comparing functioning in families of alcoholics and matched control families.

Families of recovered (N = 54) and relapsed (N = 51) alcoholic patients were studied 2 yr after the patients completed residential treatment and were compared with sociodemographically matched families of community controls (N = 105) on three sets of family-functioning indices--role functioning, family environment and husband-wife congruence. Families of recovered patients were functioning as well as families of controls. Families of relapsed patients showed less cohesion, expressiveness and recreational orientation, and lower agreement about their family environment than matched families of recovered patients and of community controls, and reported more family arguments than families of recovered patients. They also showed altered role functioning, the nonalcoholic spouse performing more household tasks and the alcoholic partner performing fewer. Family functioning was affected by the adequacy of the alcoholic partner's adaptation, and by life events, stressors and spouse's level of dysfunction.

Alcoholism↗

PubMed2001

Coping with crisis: how Australian families search for and select an aged care facility for a family member upon discharge from an acute care setting.

Searching for, and selecting, an aged care facility for a family member upon his or her discharge from an acute setting is known, anecdotally, to be a challenge; but the process itself, and its effects on families, has seldom been examined. In this exploratory/descriptive study, face-to-face in-depth interviews were conducted with sponsors (often family members) of residents who had been admitted to an aged care facility within the past 90 days, following their discharge from an acute care setting. Where possible, both sponsor and resident were interviewed. This paper reports on the participants' perceptions of the search and selection process. Specific areas of interest were probed: Why and how the decision was made to seek residential placement; when and how the search for an aged care facility began; factors that were important in the family's final selection process; what happened when families, either initially or in the long term, were unable to find a place in an aged care facility; and the family's perspective about the efficacy of the search and selection process and its effect on the well being of the family. Residents are often passive in the search and selection process, while sponsors are often actively involved. Very few residents or sponsors consider planning for an aged care facility prior to hospitalisation, and there is often the perception by families of having very little support at this stressful and emotional time. The decision to relocate a family member in these circumstances is a stressful experience and should be viewed as a family crisis, particularly if unexpected such as upon discharge from an acute setting. These findings provide valuable insights that can be used to guide and assist families experiencing this process, as well as health care professionals working with families in this situation.

Adaptation, Psychological↗

PubMed2000

Disrupting defensive family interactions in family therapy with delinquent adolescents.

This study compared the immediate impact of therapist reframing, reflection, and elicit-structure interventions on family-member defensive communications in the initial session of family therapy with a delinquent adolescent. Defensive statements included family-member statements that criticized, blamed, or disagreed with other family members. Sequences of behaviors following defensive family-member statements were examined to determine which therapist interventions were the most effective in disrupting defensive family interactions. Thus, every sequence included a defensive family-member behavior, a therapist intervention, and a family-member response (sequence: family defensive-->therapist intervention-->family response). Results indicated that therapist reframing is more effective than other therapist interventions in reducing family-members' defensive statements. Moreover, adolescents responded more favorably to reframes than did fathers.

Adolescent↗

PubMed1995

Creating a secure family base: some implications of attachment theory for family therapy.

The aim of this article is to make attachment research findings available in a form that family therapists can use. In attachment theory, parents are conceptualized as providing a secure base from which a child can explore. Family therapists, however, need a systemic concept that goes beyond the parent/child dyad. The concept of a secure family base is proposed, in which a network of care is made available for all family members of whatever age so that all family members feel secure enough to explore, in the knowledge that support is available if needed. Factors that contribute to the security or insecurity of the family base are outlined. The overall aim of therapy is to establish a secure family base from which the family can explore new solutions to family problems both during and after therapy. The role of the therapist is to help to resolve conflicts that threaten relationships, and to explore relevant belief systems that may be contributing to a sense of insecurity. The conceptual framework presented allows for an integration of family therapy techniques and ideas into a coherent whole. A new school of family therapy is not proposed.

Adult↗

PubMed2006

[Family sense of coherence and resilience. A study on families with children with mental and physical disabilities].

Drawing from concepts from family stress theory, resilience theory, Rolland's model of family adaptation to disability, and Antonovsky's salutogenetic model, this study explores the relationship between family sense of coherence and measures of family functioning, levels of stress, severity of the handicaps levels of functional impairment and demographic indicators. Participants were 37 families with children under 18 years with mental retardation and physical-neurological disorders that consulted the Department of Pediatric Neurology. With a discriminant analysis, measures contributing to the separation into subgroups of families with high, medium and low family cohesion were identified. The measures permitted a satisfactory discrimination into groups in this clinical sample. The highest discriminatory power held sociodemographic variables, severity of impairment, as well as levels of family functioning and measures of family coping, which are potentially amenable to therapeutic change. The results indicate that family coherence can be regarded as a global resource contributing to family resilience, and therapeutic implications are being discussed.

Activities of Daily Living↗

PubMed1979

Family care in a family practice group.

A fundamental claim of family medicine is that the family physician treats the "whole" family--an ideological principle that guides undergraduate and residency education. Using archival data obtained from a random sample of 500 patients in one group of family physicians, this study analyzed the extent to which this principle is carried out in practice. Physicians trained in family practice residency programs were compared with their colleagues. Family types and marital stability were also examined. Results indicate that in only 28 percent of families (excluding single person households) were all family members seen by the same family physician. This occurred despite the high preponderance and stability of traditional nuclear families in the practice. There was no significant difference in this rate between graduates and nongraduates of approved family practice residency programs.

Adolescent↗

PubMed1991

Barriers to medical care for homeless families compared with housed poor families.

To evaluate health access and health services utilization of homeless families we selected a systematic sample of 194 homeless families from 10 shelters in Los Angeles and 196 housed poor families from the same geographic regions of Los Angeles selected from welfare offices. Both samples relied primarily on Medicaid for their health insurance (61% and 96%). However, more homeless families than housed poor families were currently uninsured (26% vs 2%), had lost health insurance over the past year (50% vs 21%), and had spent a greater percentage of the past year uncovered by health insurance (22% vs 6%). Homeless families were much less likely to report a regular provider for preventive care (81% vs 94%) or for sick care (72% vs 95%). Moreover, of those reporting a regular provider, homeless families were more likely than housed poor families to use emergency departments or clinics rather than private offices for both preventive care (35% vs 15%) and sick care (37% vs 26%). Barriers to health care more frequently prevented homeless families from obtaining care (38% vs 28%). These findings suggest that homeless families have greater problems of access to health care than other poor families, related to lack of insurance, lack of a regular primary care provider, and other barriers. Programs to address these barriers for homeless families are presented.

Adult↗

PubMed2004

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.

PURPOSE: The aim of the study was the analysis of the involvement and phenotypic manifestations of MSH6 germline mutations in families suspected of hereditary nonpolyposis colorectal cancer (HNPCC). PATIENTS AND METHODS: Patients were preselected among 706 families by microsatellite instability, immunohistochemistry, and/or exclusion of MLH1 or MSH2 mutations and were subjected to MSH6 mutation analysis. Clinical and molecular data of MSH6 mutation families were compared with data from families with MLH1 and MSH2 mutations. RESULTS: We identified 27 families with 24 different pathogenic MSH6 germline mutations, representing 3.8% of the total of the families, and 14.7% of all families with DNA mismatch repair (MMR) gene mutations (n = 183). The median age of onset of colorectal cancer in putative mutation carriers was 10 years higher for MSH6 (54 years; 95% CI, 51 to 56) compared with MLH1 and MSH2 (44 years; 95% CI, 43 to 45; log-rank test, P = .0038). Relative to other malignant tumors, colorectal cancer was less frequent in MSH6 families compared with MLH1 and MSH2 families (Fisher's exact test, P < .001). In contrast, the frequency of non-HNPCC-associated tumors was increased (Fisher's exact test, P < .001). CONCLUSION: Later age of disease onset and lower incidence of colorectal cancer may contribute to a lower proportion of identified MSH6 mutations in families suspected of HNPCC. However, in approximately half of these families, at least one patient developed colorectal or endometrial cancer in the fourth decade of life. Therefore, a surveillance program as stringent as that for families with MLH1 or MSH2 mutations is recommended.

Adaptor Proteins, Signal Transducing↗

PubMed1998

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disease characterized by neoplasia of the parathyroid glands, the endocrine pancreas, and the anterior pituitary gland. In addition, families with isolated endocrine neoplasia, notably familial isolated hyperparathyroidism (FIHP) and familial acromegaly, have also been reported. However, whether these families constitute MEN 1 variants or separate entities remains speculative as the genetic bases for these diseases are unclear. The gene for MEN 1 has recently been cloned and characterized. Using single strand conformation analysis (SSCA) and sequencing, we performed mutation analysis in: a) a total of 55 MEN 1 families from 7 countries, b) 13 isolated MEN 1 cases without family history of the disease, c) 8 acromegaly families, and d) 4 FIHP families. Mutations were identified in 27 MEN 1 families and 9 isolated cases. The 22 different mutations spread across most of the 9 translated exons and included frameshift (11), nonsense (6), splice (2), missense mutations (2), and in-frame deletions (1). Among the 19 Finnish MEN 1 probands, a 1466del12 mutation was identified in 6 families with identical 11q13 haplotypes and in 2 isolated cases indicating a common founder. One frameshift mutation caused by 359del4 (GTCT) was found in 1 isolated case and 4 kindreds of different origin and haplotypes; this mutation therefore represents a common "warm" spot in the MEN1 gene. By analyzing the DNA of the parents of an isolated case one mutation was confirmed to be de novo. No mutation was found in any of the acromegaly and small FIHP families, suggesting that genetic defects other than the MEN1 gene might be involved and that additional such families need to be analyzed.

Acromegaly↗

PubMed1999

Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer. United Kingdom Coordinating Committee for Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group.

The natural history of hereditary and BRCA1- and BRCA2-associated epithelial ovarian cancer may differ from that of sporadic disease. The purpose of this study was to compare the clinical characteristics of BRCA1- and BRCA2-associated hereditary ovarian cancer, hereditary ovarian cancer with no identified BRCA1/2 mutation, and ovarian cancer in population-based controls. BRCA1 and BRCA2 mutation testing was carried out on index cases from 119 families with site-specific epithelial ovarian cancer or breast-ovarian cancer. We estimated overall survival in 151 patients from 57 BRCA1 and BRCA2 mutation families and compared it with that in 119 patients from 62 families in which a BRCA1/2 mutation was not identified. We compared clinical outcome and data on tumor histopathology, grade, and stage. We also compared survival in familial epithelial ovarian cancer, whether or not a mutation was identified, with that of an age-matched set of population control cases. Overall survival at 5 years was 21% (95% confidence interval, 14-28) in cases from BRCA1 mutation families, 25% (8-42) in BRCA2 mutation families, and 19% (12-26) in families with no identified mutation (P = 0.91). Survival in familial ovarian cancer cases as a whole was significantly worse than for population controls (P = 0.005). In the familial cases, we found no differences in histopathological type, grade, or stage according to mutation status. Compared to population control cases, mucinous tumors occurred less frequently in the familial cases (2 versus 12%, P<0.001), and a greater proportion of the familial cases presented with advanced disease (83% stage III/IV versus 56%; P = 0.001). We have shown that survival in familial ovarian cancer cases is worse than that in sporadic cases, whether or not a BRCA1/2 mutation was identified, perhaps reflecting a difference in biology analogous to that observed in breast cancer.

BRCA2 Protein↗

PubMed2004

Clinical and genetic features of International Collaborative Group-hereditary nonpolyposis colorectal cancer families and suspected hereditary nonpolyposis colorectal cancer families.

BACKGROUND: Hereditary nonpolyposis colorectal cancer (HNPPC) is one of the most common genetic syndrome related with mutation of human mismatch repair genes. This study was to evaluate the clinical significance of suspected hereditary nonpolyposis colorectal cancer (sHNPCC) criteria I and the clinical and genetic features of International Collaborative Group-HNPCC (ICG-HNPCC) and sHNPCC families. METHODS: Twenty-nine ICG-HNPCC families fulfilling the Amsterdam criteria and 34 sHNPCC families fulfilling the sHNPCC criteria I were collected. PCR-SSCP and DNA sequencing analysis were employed to screen the germline mutations of the hMLH1 and hMSH2 genes in these families. RESULTS: The ICG group had more colorectal cancer (CRC) patients per family than did the suspected group (P < 0.05). No statistical difference was observed in Lynch classification and familial tumor spectrum. In both groups of families, colorectal cancer was the most frequent malignancy, and carcinomas of the stomach, pancreas and uterus were the three most common extracolonic malignancies. Mutation screening showed that ICG-HNPCC and sHNPCC families had a similar mutation rate (31.0% vs 29.4%, P > 0.05), mutation type, and mutation distribution. Comparison of the families with and without mutation showed no significant difference in CRC patients per family, Lynch classification, and tumor spectrum. CONCLUSIONS: ICG-HNPCC and sHNPCC families that have similar clinical manifestations and genetic basis indicate a similar nature for cancer development. The application of sHNPCC criteria I will facilitate clinical diagnosis and treatment of small families.

Adaptor Proteins, Signal Transducing↗

PubMedDate not supplied

Family perceptions of nurses' roles toward family members of critically ill patients: a descriptive study.

OBJECTIVES: The purpose of this study was to examine the role of the nurse with families of critically ill patients as perceived by family members and whether meeting family expectations impact family satisfaction. METHODS: A descriptive design was conducted with 29 family members from a 19-bed intensive care unit. Nonparametric statistics, known for their appropriateness for small samples, were used to examine the research questions. RESULTS: Overall, the expectations that family members held regarding nurses' roles with families were not different from their perceptions of what nurses actually did (P = .087). Family members were more satisfied with care when nurses' performance either met or exceeded their expectations (P = .046). CONCLUSION: Nurses did well with regard to meeting family members' expectations. Variations in expectations among family members reflect their diversity and highlight the importance of assessing family needs on a case-by-case basis.

Adult↗

PubMed2001

Family structure and the externalizing behavior of children from economically disadvantaged families.

This study examined the relations among family structure, caregiver relationship history, aspects of environmental adversity, and teacher reports about the externalizing behaviors of 6- and 7-year-old children from economically disadvantaged families. Family structure contrasted intact families, stepfamilies, single-parent families, and cohabiting families. Problem behaviors were more frequent for children from unmarried families than from married families and were more frequent for boys than for girls from cohabiting families. Relationship history reduced the effects for family structure. Children's adjustment varied with both the current status and past stability of caregiver intimate relationships for disadvantaged families.

Child↗

PubMed1979

Circumplex model of marital and family systems: III. Empirical evaluation with families.

This study was designed to test the circumplex model of family systems that hypothesizes moderate family cohesion and moderate adaptability to be more functional than either extreme. Thirty-one Catholic family triads with daughters ranging in age from 14 to 17 years participated in a structured family interaction game (SIMFAM) and filled out questionnaires that measured the variables of cohesion and adaptability and the facilitative variables of support and creativity. All families were considered normal but were subdivided into those that had more and less difficulty with this adolescent. Analysis of the data yielded considerable support for the circumplex model. High family functioning was associated with moderate family cohesion and adaptability, and low family functioning had extreme scores on these dimensions. As predicted, high family support and creativity were also related to high family functioning. Implications of these findings for family therapy are discussed.

Adaptation, Psychological↗