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PubMed2001

Variations in family composition. Implications for family therapy.

The American family is truly diverse, with many forms and changes between and among forms common. Each variation in family composition presents its own unique challenges and possesses its own unique possibilities for success, building on its own unique strengths. Each family in trouble expects and demands respectful, patient, and committed assistance from the family therapist. The family therapist must appreciate the uniqueness of an individual family and the features that that family has in common with similar families and with all families. It is the commitment of parental figures to take responsibility for their children and participate actively with them in their development that creates successful family life. The family therapist's acceptance, curiosity, and respect for the family and its members encourages change and enlists strengths. This approach permits the family therapist to participate in meaningful and effective lives for each family.

Adolescent↗
PubMed2003

Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine.

BACKGROUND: Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. Missense mutations in the chromosome 19 CACNA1A calcium channel gene have been found in approximately half of the families. The T666M mutation, replacing a threonine by a methionine at residue number 666, is the most frequent mutation, reported in 14 independent FHM families; other mutations have so far been described in only 1 or 2 families each. The clinical features of T666M families have been reported, but the course is unknown. OBJECTIVE: To present a detailed description of the clinical features of new FHM families in which we identified the T666M mutation in our CACNA1A screening program. METHODS: As part of our ongoing genetic screening, mutation analysis of the CACNA1A gene was performed by single-strand conformational polymorphism analysis in 33 probands of families with FHM. RESULTS: We identified the T666M mutation in 5 unrelated FHM families. In 3 of the families, patients displayed cerebellar ataxia. In 1 family, some affected members with the mutation had attacks with confusion but without hemiparesis. In 1 family, patients had progressive cognitive dysfunction. CONCLUSIONS: The T666M mutation is the most frequent CACNA1A mutation in FHM; it was found in 5 of 33 FHM families at our laboratory, and in 19 of 39 families with a known mutation reported in the literature (including the present study). Screening for the T666M mutation should therefore be the first step when screening families with FHM. There is a remarkable clinical heterogeneity among families with the T666M mutation.

Adult↗
PubMed2003

Familial hypercholesterolaemia and quality of life in family members.

BACKGROUND: Awareness of genetic disease in the family may influence quality of life. The purpose of this study was to describe quality of life among nonaffected members of families with familial hypercholesterolaemia. All were aware of the risk for coronary heart disease. Their quality of life was compared with a reference group and with the patients with familial hypercholesterolaemia themselves. METHODS: Names of family members (n = 129) were given by the patients with familial hypercholesterolaemia. A randomly selected reference group (n = 1485) and patients with familial hypercholesterolaemia (n = 185) were included for comparison. They all completed the questionnaire Quality of Life Index, the Hospital Anxiety and Depression Scale, and the Mastery Scale measuring coping. Family members and patients with familial hypercholesterolaemia also completed a questionnaire on health and lipids. RESULTS: Family members were more satisfied with family life, mean 22.1 +/- 3.5 (SD), and psychological/spiritual life, 22.9 +/- 4.0, than the reference group, 21.4 +/- 4.3 and 21.1 +/- 4.8, respectively; this was particularly expressed among partners, P < 0.05. Of family members, 91% were anxious about the patient with familial hypercholesterolaemia developing coronary heart disease. CONCLUSIONS: Family members have as good a quality of life as members of the reference group, but they were anxious about the patient with familial hypercholesterolaemia developing coronary heart disease.

Adaptation, Psychological↗
PubMedDate not supplied

[Family dynamics and chronic illness: children with diabetes in the context of their families].

The present study is based on the assumption of an interaction between family functioning and chronic illness. Using a systemic approach, the intra-familial situation of families with a diabetes-affected child is examined. 44 families were evaluated using a family diagnostic instrument ("Familienbögen") and compared with 31 control families with a healthy child. Furthermore, the study looked at the influence of the level of family functioning on glycemic control, as measured by HbA1c values, and vice versa. Families with a child affected by diabetes showed significantly more dysfunctional domains and higher discrepancies of the ratings in the family diagnostic instrument (p < 0.05). Unexpectedly, no significant interaction between family functioning and glycemic control was found. Poor glycemic control therefore did not have any negative effects on the family dynamics, in fact, the opposite was often the case. Also, the relationship between siblings was judged more positively when one of the siblings was chronically ill (p < 0.05). The results show that despite the fact that diabetes in children may lead to an increase in impairment of intra-familial dynamics, it may, at the same time, offer opportunities for an improvement of family relationships. However, if physiological parameters deteriorate in the child (poor glycemic control), family problems seem to become less important. Success in the treatment of diabetes patients should therefore not only be measured by the quality of glycemic control, but also by considering psychological factors and aspects of family dynamics.

Adolescent↗
PubMed2003

Modification of family size in families reporting history of haemophilia from Maharashtra, India.

BACKGROUND: In India, genetic counselling services are largely unavailable. The question of whether awareness of the hereditary nature of the disorder leads to modified family size in affected families remains unanswered. The objective of this study was to determine whether family history of haemophilia resulted in modification of family size in families reporting haemophilia in the State of Maharashtra, India. METHODS: The study was a retrospective cohort analysis from pedigrees collected from an earlier survey on haemophilia in Maharashtra. Pedigree data were manually defined into families with or without experience of haemophilia. Family size was defined as the number of live births per woman as documented in the pedigree. The data were analysed using Microsoft Excel package (version 2000) and SPSS package (version 10). RESULTS: Family size of obligate carriers who were daughters of patients was significantly less than the family size of obligate carriers who reported haemophilia in a brother or maternal relative (z = 7.14, P < 0.001). As compared with parents from an older generation, a significant reduction in the number of children born to younger families with haemophilia was observed, irrespective of family history of the condition. In families with history of haemophilia, there was no significant reduction in the number of families with more than one affected son in between two generations of parents (chi(2) = 1.43). CONCLUSIONS: The results revealed a reduction in size of families with haemophilia over a generation, which possibly reflected the reducing fertility trends observed in the Indian population. Reduction in the number of children born to women with a haemophilic father suggested a comprehension of father to daughter transmission of haemophilia. This was not true when relatives other than the father were affected. The lack of significant reduction in the number of families with history of haemophilia of having more than one affected son may suggest a compensatory response to the high mortality associated with the disorder in India.

Cohort Studies↗
PubMed2000

The Family to Family program: a structural intervention with implications for the prevention of HIV/AIDS and other community epidemics.

OBJECTIVES: To describe a case study of a community-based intervention located in the Harlem community of New York City, one of the oldest African-American communities in the United States. Although not specifically designed to prevent HIV infection, the program, 'Family to Family', exemplifies a 'structural intervention' that was created to strengthen family functioning and to strengthen the bonds that connect families to each other. By fostering strong relationships within and between families in a community with high rates of violence, drug abuse, and HIV infection, the program seeks to improve the quality of neighborhood life and influence the social determinants of individual risk behavior. SOCIAL CAPITAL: Family to Family was created specifically to develop the 'social capital' that is available to children and families in the Harlem community. Social capital refers to resources that result from social relationships, and that enhance an individual's or a group's ability to function and achieve a given set of goals and objectives. In addition to fostering closer relationships between children and their parents, this program also works to help participating families develop closer relationships with other participating families and with Columbia University student and faculty volunteers. Finally, Family to Family is sustained through the efforts of volunteers; it receives no grant support and is entirely self-supporting. CONCLUSIONS: Family to Family has the potential to change the social dynamics that promote HIV risk behavior in communities such as Harlem. Should it prove successful in improving the relationships between families and children, and in increasing the social capital available to all of its participants, it may become an important asset to public health prevention specialists concerned about preventing the spread of HIV.

Acquired Immunodeficiency Syndrome↗
PubMed2004

Family functioning perceived by patients and their family members in three Diagnostic and Statistical Manual-IV diagnostic groups.

The aim of this study was to clarify the difference in the perception of family functioning measured on the Family Assessment Device (FAD) by Diagnostic and Statistical Manual-IV diagnoses (i.e. schizophrenia, major depressive disorder and bipolar disorder) and by raters (patients and family members). The subjects were 70 psychiatric outpatients paired with their family members (i.e. principal caretaker), divided into three groups based on the patient's diagnosis of schizophrenia (24 pairs), major depressive disorder (28 pairs) or bipolar disorder (18 pairs). They rated their perceived family functioning on the FAD. There was no significant difference in perceptions of family functioning between the three groups of family members, while there were differences between the patient groups in some FAD dimensions. Perceptions of family functioning were not significantly correlated between the schizophrenic patients and their family members. The perceptions of family functioning were correlated more strongly between patients and their family members in the bipolar group than between patients and family members in the other two diagnostic groups. As for the FAD Problem Solving dimension, the schizophrenia patients saw it more negatively than did their family members, whereas the depressive patients saw it more positively than did their family members. These results might reflect psychopathological characteristics of each disorder. When clinicians evaluate the family functioning of psychiatric patients, it is important to consider the diagnoses of patients as well as who assesses it.

Adult↗
PubMed1994

Coalitions and family problem solving with preadolescents in referred, at-risk, and comparison families.

This study tested the hypothesis that the mother-father coalition, parent-child coalitions, and parental warmth expressed toward the child are associated with family problem solving in families with a preadolescent child referred for treatment of behavior problems (n = 30), families with a child at-risk for conduct disorder (n = 68), and a sample of comparison families (n = 90). Referred and at-risk families displayed less effective problem solving. A regression analysis, which controlled for gender of the child, family structure, family income, marital satisfaction, and severity of child problems, showed that strong parental coalitions were linked to low levels of family problem solving in at-risk and referred families. Parent-child coalitions had little apparent impact while parental warmth was highly correlated with better family problem solving. The results may be interpreted as evidence for a tendency for parents in at-risk and referred families to "scapegoat" a preadolescent during family problem-solving sessions. This may undermine progress on family problem solutions and may complicate family-based prevention and treatment programs that use family problem-solving sessions.

Adolescent↗
PubMed1990

Potential for alterations in family process: when a family has a child with cystic fibrosis.

Cystic Fibrosis (CF) is a disease that has profound consequences on a family unit. As a genetically transmitted, chronic illness, it influences every aspect of family life, including time constraints, finances, and relationships among family members. The purpose of this article is to demonstrate the cumulative effect of the nursing diagnoses related to the pathophysiology of CF on the nursing diagnosis, Potential for Alterations in Family Process, when a family has a child with cystic fibrosis. This nursing diagnosis was first recognized by the North American Nursing Diagnosis Association (NANDA) in 1982. It is vital that nurses be able to differentiate between a family having difficulty coping with a child with CF in the home, and one that is coping well on its own. The children of families that are not coping well tend to be hospitalized more than those of families that are coping well. The families use the hospitalizations as rest periods for themselves. By recognizing the cues identified by NANDA of a family having problems, early intervention can be initiated before the family is in a crisis. The family must live with CF on a daily basis for the remainder of the child's life; therefore it must be able to function at its optimum level. It is nursing's responsibility to be able to recognize and assist the family in need. A knowledge of the nursing diagnosis, Alterations in Family Process, will assist nurses in fulfilling this obligation to the family.

Adaptation, Psychological↗
PubMedDate not supplied

Potential for alterations in family process: when a family has a child with cystic fibrosis.

Cystic fibrosis (CF) is a disease that has profound consequences on a family unit. As a genetically transmitted, chronic illness, it influences every aspect of family life, including time constraints, finances, and relationships among family members. The purpose of this article is to demonstrate the cumulative effect of the nursing diagnoses related to the pathophysiology of CF on the nursing diagnosis, Potential for Alterations in Family Process, when a family has a child with cystic fibrosis. This nursing diagnosis was first recognized by the North American Nursing Diagnosis Association (NANDA) in 1982. It is vital that nurses are able to differentiate between a family having difficulty coping with a child with CF in the home, and one that is coping well on its own. The children of families that are not coping well tend to be hospitalized more than those of families that are coping well. The families use the hospitalizations as rest periods for themselves. By recognizing the cues identified by NANDA of a family having problems, early intervention can be initiated before the family is in a crisis. The family must live with CF on a daily basis for the remainder of the child's life; therefore it must be able to function at its optimum level. It is nursing's responsibility to be able to recognize and assist the family in need. A knowledge of the nursing diagnosis, Alterations in Family Process, will assist nurses in fulfilling this obligation to the family.

Adaptation, Psychological↗
PubMed2002

Chinese adolescents' perceptions of family functioning: personal, school-related, and family correlates.

The author used two translated measures (Self-Report Family Inventory; D. T. L. Shek, 1998); and Family Assessment Device; N. B. Epstein, L. M. Baldwin, & D. S. Bishop, 1983) and a locally developed scale (Chinese Family Assessment Instrument; D. T. L. Shek, in press-a) to assess 3,649 Chinese adolescents' perceptions of how well their families function. He found that boys perceived their families to function worse than did girls and that younger adolescents perceived their families to function better than did older adolescents. Perceived family functioning was negatively related to grade level; students attending schools with higher academic standards perceived their families to function better than did students attending schools with lower academic standards; and students attending government and aided schools had higher levels of family functioning than did students attending private schools. Family types (intact vs. nonintact families) and the duration of parents' stay in Hong Kong were also related to the adolescents' perceptions of family functioning. Findings for the personal, school-related, and family correlates of perceived family functioning were statistically significant and stable across different measures of family functioning, but the practical significance of the findings was not high.

Adolescent↗
PubMedDate not supplied

A comparison of the attitudes of obstetricians and family physicians toward obstetric practice, training, and hospital privileges of family physicians.

Responses of national samples of 329 residency-trained family physicians and 237 obstetricians were studied to determine the attitudes of family physicians and obstetricians toward the practice of obstetrics by family physicians. The attitudes of obstetricians and family physicians varied greatly, and the attitudes of obstetricians toward obstetric care provided by family physicians tended to become less supportive following the time of the obstetricians' training. In particular, obstetricians felt strongly that family physicians were inadequately trained to provide uncomplicated obstetric care. These negative attitudes were reflected in obstetricians' opinions regarding hospital obstetric privileges for family physicians. From a list of 11 obstetric privileges, obstetricians indicated that residency-trained family physicians should be granted a mean of 2.2 privileges, while family physicians who currently practice obstetrics indicated a mean of 6.6 (P less than .001). Family physicians who felt well supported by obstetricians during their obstetric training were more likely to develop positive attitudes toward obstetric practice than those who were not well supported. Both obstetricians and family physicians indicated that the adequacy of maternity care in rural areas would decline if family physicians withdrew from maternity care. There was strong agreement that rising malpractice premiums may soon force family physicians to stop delivering babies. This study concludes that there are vast differences among obstetricians and family physicians in perceptions regarding obstetric practice by family physicians which may adversely affect such practice.

Adult↗
PubMed2001

Risk factors of child maltreatment within the family: towards a knowledgeable base of family nursing.

The purpose of this study was to compare family dynamics in child maltreating families (n=42) with that in ordinary families with children (n=77), and to ascertain risk factors of child maltreatment within the family. Child maltreatment was defined as physical, psychological or sexual abuse or neglect of a child by a parent. Data were collected using questionnaires (Family Dynamics Measure 2, FMD 2) (N=119) basing on Barnhill's conceptual framework of healthy family systems and analysed by forming sum variables and logistic regression. The study results indicate that family functioning in child maltreating families is lower on all dimensions of family dynamics (individuation, mutuality, flexibility, stability, communication and roles) than that in ordinary families with children. Furthermore, it seems that specific risk factors, detected with logistic regression analysis, are related to whether child maltreatment occurs in the family or not. These include the parent's low educational background, many children in the family, unemployment of a parent, low individuation of the family members, and poor stability and security within the family. The results of this study provide guidelines for detecting and preventing child maltreatment as well as for recognising its existence, although no generalizations can be made due to the small sample size and complexity of the phenomenon under study.

Adult↗
PubMed1987

Family health. Utilization and effects of family membership.

The purpose of this study was to determine the extent to which members of families have similar and interrelated health behavior. Utilization and morbidity data from more than 80,000 ambulatory visits by 693 families enrolled in a prepaid health plan for 6 consecutive years were examined using family membership as the major unit of analysis. Family members were found to resemble one another in their rates of use of services (r = 0.44; P less than 0.001). Parental influence on children's utilization is significant, mothers generally being two to three times more powerful than fathers in this regard. Apart from family size, structural characteristics of families contribute little to family health behavior. Family membership explains nearly one third of the variance of individual utilization even after family size and age and sex of family members are considered. A small proportion of families (5%) accounts for a disproportionately large share (12.3%) of health care utilization. Intrafamilial patterns of morbidity were apparent for several major groupings of diagnoses, most notably for acute health problems. Intrafamilial correlations were greatest among high-utilizing families. Families establish patterns of health behavior that are stable over time and therefore may be amenable to selective interventions. We conclude that health care planning, whether for service delivery or health education intervention, should consider family health data as an important information source.

Adult↗
PubMed2005

Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X.

CONTEXT: Approximately 60% of families that meet the Amsterdam-I criteria (AC-I) for hereditary nonpolyposis colorectal cancer (HNPCC) have a hereditary abnormality in a DNA mismatch repair (MMR) gene. Cancer incidence in AC-I families with MMR gene mutations is reported to be very high, but cancer incidence for individuals in AC-I families with no evidence of an MMR defect is unknown. OBJECTIVE: To determine if cancer risks in AC-I families with no apparent deficiency in DNA MMR are different from cancer risks in AC-I families with DNA MMR abnormalities. DESIGN, SETTING, AND PARTICIPANTS: Identification (1997-2001) of 161 AC-I pedigrees from multiple population- and clinic-based sources in North America and Germany, with families grouped into those with (group A) or without (group B) MMR deficiency by tumor testing. A total of 3422 relatives were included in the analyses. MAIN OUTCOME MEASURES: Cancer incidence in groups A and B (excluding the 3 affected members used to define each pedigree as AC-I) and computed age- and sex-adjusted standardized incidence ratios (SIRs) using Surveillance, Epidemiology, and End Results data. RESULTS: Group A families from both population- and clinic-based series showed increased incidence of the HNPCC-related cancers. Group B families showed increased incidence only for colorectal cancer (SIR, 2.3; 95% confidence interval, 1.7-3.0) and to a lesser extent than group A (SIR, 6.1; 95% confidence interval, 5.2-7.2) (P<.001). CONCLUSIONS: Families who fulfill AC-I criteria but who have no evidence of a DNA MMR defect do not share the same cancer incidence as families with HNPCC-Lynch syndrome (ie, hereditary MMR deficiency). Relatives in such families have a lower incidence of colorectal cancer than those in families with HNPCC-Lynch syndrome, and incidence may not be increased for other cancers. These families should not be described or counseled as having HNPCC-Lynch syndrome. To facilitate distinguishing these entities, the designation of "familial colorectal cancer type X" is suggested to describe this type of familial aggregation of colorectal cancer.

Adaptor Proteins, Signal Transducing↗
PubMed1995

Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations.

BACKGROUND: Familial hypertrophic cardiomyopathy is the most common inherited cardiac disorder, with sudden cardiac death at a young age the most frequent cause of death in affected individuals. Some cases of familial hypertrophic cardiomyopathy are caused by missense mutations of the beta myosin heavy chain (beta MHC) gene on chromosome 14 and at least 17 such mutations have been described. Recent reports suggest that a correlation exists between a specific beta MHC gene mutation and prognosis in familial hypertrophic cardiomyopathy. This premise is currently being used as a basis to provide counselling for affected families. This mutation/prognosis association, however, has not been widely assessed as yet. The clinical and prognostic features of two South African families of mixed racial descent, in which different beta MHC gene mutations were segregating, were studied to evaluate this correlation. The results were compared with those of previously published reports of European families carrying the same mutations. METHODS: The beta MHC gene missense mutations in two affected families were identified by single strand conformation polymorphism analysis and sequencing (pedigree 106: Arg403Trp; pedigree 108: Arg249Gln). All family members were subjected to genotypic analysis using polymerase chain reaction amplification and restriction enzyme based mutation detection techniques. Clinical, electrocardiographic, and echocardiographic studies were performed on genotypically affected individuals in these two kindreds. RESULTS: The number of individuals identified in pedigree 106 with the Arg403Trp mutation was 32.10 individuals bore the Arg249Gln mutation in pedigree 108. The penetrance rate in adults (equal to or greater than 16 years), using the strict echocardiographic criterion of maximum left ventricular wall thickness > or = 13 mm, was 25% for pedigree 106 and 33% for pedigree 108. Familial hypertrophic cardiomyopathy compatible electrocardiographic and echocardiographic abnormalities were seen in 60% of genotypically positive individuals aged > or = 16 years in pedigree 106 and 80% in pedigree 108. The prognosis was uniformly benign in the two families. For pedigree 106 this corresponded to a report of no early sudden cardiac deaths in a French family with the Arg403Trp mutation. For pedigree 108 the absence of such deaths was in apparent contrast to the four cases reported in 24 genotypically affected individuals in a study of a kindred of European ancestry bearing the Arg249Gln mutation. CONCLUSION: This study of a large South African kindred confirmed the benign nature of the Arg403Trp mutation suggested in a previous report. The number and the relatively young age of affected individuals in a second South African family must be considered when comparing the absence of familial hypertrophic cardiomyopathy associated deaths with the intermediate survival reported for the Arg249Gln mutation in a European family. This investigation lends support to current evidence relating specific beta MHC gene mutations to prognosis, which may be used as a basis to provide counselling for affected families.

Adolescent↗
PubMed2005

Function of the family-9 and family-22 carbohydrate-binding modules in a modular beta-1,3-1,4-glucanase/xylanase derived from Clostridium stercorarium Xyn10B.

Clostridium stercorarium Xyn10B having hydrolytic activities on xylan and beta-1,3-1,4-glucan is a modular enzyme composed of two family-22 carbohydrate-binding modules (CBMs), a family-10 catalytic module of the glycoside hydrolases, a family-9 CBM, and two S-layer homologous modules, consecutively from the N-terminus. We investigated the function of family-9 and family-22 CBMs in a modular enzyme by comparing the enzymatic properties of a truncated enzyme composed of two family-22 CBMs and the catalytic module (rCBM22-CM), an enzyme composed of the catalytic module and family-9 CBM (rCM-CBM9), an enzyme composed of two family-22 CBMs, the catalytic module, and family-9 CBM (rCBM22-CM-CBM9), and the catalytic module polypeptide (rCM). Although the addition of family-9 CBM to rCM and rCBM22-CM did not significantly change catalytic activity toward xylan and beta-1,3-1,4-glucan, the addition of family-22 CBM to rCM and rCM-CBM9 drastically enhanced catalytic activity toward xylan and especially beta-1,3-1,4-glucan. Furthermore, the addition of family-22 CBM to rCM and rCM-CBM9 shifted the optimum temperature from 65 degrees C to 75 degrees C, but that of family-9 CBM to rCM and rCBM22-CM did not affect the optimum temperature. These facts suggest that the enzyme properties of Xyn10B were mainly dependent on the presence of the family-22 CBMs but not family-9 CBM.

Base Sequence↗
PubMed1984

Expression and regulation of two idiotype families and subsets within an idiotype family among BALB/c antibodies against p-azophenylarsonate.

The expression and regulation of the two different idiotype (id) families associated with the anti-p-azophenylarsonate (Ar) antibodies of BALB/c mice were examined. Both families ( 5AF6 and 3C6 ) represented cross-reactive idiotypes (CRI) expressed in the anti-Ar of most individual BALB/c mice. In response to keyhole limpet hemocyanin-Ar, an average of about 28% of BALB/c anti-Ar had 5AF6 family idiotopes, while 3C6 family was expressed on about 16% of BALB/c anti-Ar antibodies. Suppression induced by anti-idiotype treatment against one family did not suppress the expression of the other family, suggesting that the two families were regulated independently. However, the relative expression of one family could influence the expression of the other, because depression of the 5AF6 family tended to increase the expression of the 3C6 family of anti-Ar. Analysis of the 5AF6 family showed that a majority of BALB/c mice produced antibodies bearing most or all of the idiotopes associated with the family, but that a subset of about 35% of the antibodies synthesized lacked idiotopes associated with a monoclonal anti-Ar member of this family, 2.4. Treatment of mice with anti-idiotypes prepared against two different monoclonal anti-Ar of the 5AF6 family produced different effects: one enhanced while the other suppressed idiotype expression, suggesting that there are differences in the idiotopes associated with these two regulatory pathways. Additionally, results indicated that subsets of antibodies within the 5AF6 idiotype family could be regulated independently of each other.

Animals↗