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PubMed1997

Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.

We have previously reported on the analysis of TP53 coding mutations in 12 classic Li-Fraumeni syndrome (LFS) families plus 9 families that were Li-Fraumeni-like (LFL) families (J. M. Birch et al., Cancer Res., 54: 1298-1304, 1994). Mutations were found in 6 of 12 LFS families and in 1 of 9 LFL families. We have now extended these studies to include an additional nine LFS and nine LFL families, and TP53 mutations have been detected in eight of nine LFS families and in three of nine LFL families. Six of the new mutations described here are the same as those previously identified in other Li-Fraumeni families and are missense mutations at codons 245, 248, and 273 (in two families); a nonsense mutation at codon 209; and a mutation at the splice donor site in exon 4. The other five mutations are novel germ-line mutations and include missense mutations at codons 136 and 344, a 2-bp deletion within codon 191, a splice acceptor mutation in intron 3, and a 167-bp deletion of part of exon 1 and intron 1. In addition, we have detected a codon 175 mutation in a family previously reported as TP53 negative. To summarize all of the data from the families we have studied in this and our previous report (J. M. Birch et al., Cancer Res., 54: 1298-1304, 1994), mutations have been detected in 15 of 21 LFS families (71%) and in 4 of 18 LFL families (22%). These figures are somewhat higher than those previously reported by us and others for the frequency of TP53 mutations in LFS and LFL families. This could reflect our analysis of all 11 exons of TP53, including noncoding regions, as well as the use of direct sequencing rather than other less-sensitive mutation detection methods.

Female↗
PubMed2005

Assessing children's appraisals of security in the family system: the development of the Security in the Family System (SIFS) scales.

BACKGROUND: Although delineating the processes by which children appraise the family as a source of security from their collective experiences in the family subsystem has assumed center stage in many conceptualizations of child development, the dearth of measures of child adaptation in the family system has hindered empirical advances. Therefore, this study introduced and tested the psychometric properties of the Security in the Family System (SIFS) scales, a new measure designed to assess children's appraisals of security in their family as a whole. METHODS: The SIFS was administered to 853 10-15-year-old schoolchildren and readministered to a smaller subsample two weeks later. Additional data was gathered from children, caregivers and teachers using a variety of instruments tapping family instability, cohesion, and conflict; parenting warmth and psychological control; child externalizing and internalizing symptoms; parent-child and interparental insecurity; and children's reactions to conflict simulations. RESULTS: Consistent with models of emotional security in the family, exploratory and confirmatory factor analyses yielded three reliable (i.e., good internal consistency, test-retest reliability) dimensions of family security: Preoccupation, Security, and Disengagement. Concurrent and prospective associations between the SIFS scales and measures of family functioning, children's psychological problems, and insecurity in specific family relationships supported the validity of the SIFS. Support for the discriminant validity of the SIFS was evidenced by its specific patterns of relations with children's psychological problems and ability to predict psychological problems after controlling for insecurity in specific family subsystems. CONCLUSIONS: Results indicate that the SIFS is a psychometrically sound tool capable of advancing family process models, and that family security is a viable construct whose factors parallel already-identified patterns of children's security in other family relationships.

Adolescent↗
PubMed1992

The California Family Health Project: II. Family world view and adult health.

This article explores the pattern of relationships between family World View and adult Health in a community-based sample of 225 families. Family World View refers to the beliefs, appraisals, and values that define a family's orientation to the world. The interrelationships among eight self-reported family World View variables are described, using principal components analyses (PCA) and multidimensional scaling analyses (MDS). Derived, joint-spouse World Views also are examined using inter-battery factor analysis. The World View variables then are analyzed as a set with 14 self-reported health variables for husbands and wives separately, using canonical correlation. The PCAs for family World View yielded poor solutions for both husbands and wives. The MDS displayed the eight variables in a circular pattern for husbands and for wives, indicating the absence of a single broad dimension, or subgroupings of separate dimensions, that could be used to "describe" the domain. In the canonical analyses, family World View was a strong correlate of Health, with approximately 50% of the variance accounted for by the respective canonical variates. For husbands, what we called Family Coherence, Family Religiousness, Family Life Engagement, and Family Optimism, were correlated with Health. For wives, Family Coherence, Family Religiousness, and Family Optimism, were correlated with Health. Different patterns of health scores emerged by gender, with behavioral indicators, such as Smoking and Drinking, more salient for husbands, and mood indicators, such as Anxiety and Depression, more salient for wives.

Adult↗
PubMed2005

For love and money? The impact of family structure on family income.

What do the half-century decline in U.S. marriage and the attendant rise in single parenthood mean for the economic well-being of children, especially children living in single-parent families? Adam Thomas and Isabel Sawhill show how differing living arrangements can be expected to affect families' economic well-being. Married-parent and cohabiting households, for example, can benefit from economies of scale and from having two adult earners. The availability of child support for single-parent families and the marriage penalties in the tax and transfer system reduce but rarely completely offset the economic benefits of marriage. Consistent with these expectations, national data on family income show that across all races and for a variety of income measures, children in lone-parent families (single-parent households with no cohabiter) have less family income and are more likely to be poor than children in married-parent families. Cohabiting families are generally better off economically than lone-parent families, but considerably worse off than married-parent families. Thomas and Sawhill acknowledge the possibility that the link between famlily structure and family resources may not be causal. But new research that simulates niarriages between existing single mothers and unattached men with similar characteristics suggests that family structure does affect family resources and that child poverty rates would drop substantially if these mothers were to marry. It does not necessarily follow, however, that policymakers ought to, or even can, do anything about family structure. Marriage is not an economic cure-all for the complex problem of child poverty. It would be a mistake for policymakers to focus on promoting marriage to the exclusion of encouraging and rewarding work or addressing problems such as early out-of-wedlock childbearing. Still, Thomas and Sawhill conclude that a continuation of recent declines in single parenthood, linked most recently to declines in teen and out-of-wedlock births, offers great promise for improving the economic welfare of U.S. children.

Adult↗
PubMed2003

Maintaining family connectedness in long-term care. An advanced practice approach to family-centered nursing homes.

The decision to place a relative in a long-term care institution is one of the most difficult processes families can go through. Family members often experience conflicting feelings of stress, shock, anxiety, fear, resistance, and guilt. In addition, many individuals, regardless of the amount of previous nursing home experiences, possess misconceptions about nursing home care (Grove, 1997; Mastrian & Dellasega, 1996; Tickle & Hull, 1995). Even after the family realizes the necessity of nursing home placement, achieving a level of comfort with such a decision and maintaining family relationships is a difficult challenge. Unfortunately, family-centered nursing care in long-term care settings is hindered by multiple barriers, including resistance to institutional change, family members' fear and hesitation, institutional rules and protocols, lack of institutional encouragement of family involvement, insufficient programs and activities addressing the social and emotional needs of the family, and ineffective communication between the staff and families. To remedy these barriers, it is suggested the family advanced practice nurse (APN) view the families as clients and initiate family-centered policies to encourage family involvement in the caregiving experience. Ultimately, this will promote individualized care of elderly adults and encourage family processes within the walls of the nursing home.

Aged↗
PubMed1983

The family and family medicine: should this marriage be saved?

Although there have been many noteworthy attempts to integrate a family focus into family medicine, there is little evidence that this integration has occurred in either residency education or community practice. When the specialty was founded, a family emphasis may have been politically useful as a way to differentiate the new family physician from the old general practitioner. Now, however, it is unclear what specific family-related material should be taught or who should teach it since few family practice faculty are trained in understanding families. If a practicing family physician actually wants to see a family, practical problems concerning time, space, and money arise. Furthermore, the medicolegal system is structured to protect the confidential relationship between one patient and one physician. Other obstacles to the integration include the difficult epistemological shift required to apply systems theory, the current chaos in the family field, and family medicine's need to gain professional stature by being proficient in traditional medicine. It may be time for the family and family medicine to reconsider their well-intended but ill-advised relationship.

Education, Medical↗
PubMed2005

Lesbian families and family functioning: an overview.

OBJECTIVES: In the last 30 years a growing body of studies on lesbian parents and the development of children has been published. METHODS: Four computerized databases were identified studies for inclusion in this review of research on lesbian families, namely PsychInfo, Educational Resources Information Centre (ERIC), Medline, and the Social Sciences Citation Index. RESULTS: Forty-four empirical studies on lesbian families published between 1978 and 2003 were reviewed. In the research on lesbian families two phases were identified. To begin with, systematic studies on lesbian families focused on lesbian families with children who were born in a previous heterosexual relationship. More recently, studies included lesbian families whose children were born to the lesbian couple (planned lesbian families). In both phases, articles reporting results on children's development (such as sexual identity, emotional/behavioral development, social relationships and cognitive functioning), and parental functioning (such as mental psychological health and parenting skills). This paper presents and discusses major finding of the reviewed articles. CONCLUSION: Studies in both phases have emphasized that lesbian and heterosexual families are very much alike. However, it is the stigma of lesbianism that makes the family situation of lesbian families different. PRACTICE IMPLICATIONS: Healthcare workers should be informed about the similarities and differences between lesbian families and heterosexual families, and about the non-traditional family situation of planned lesbian families.

Adaptation, Psychological↗
PubMed2000

Eye-tracking dysfunction (ETD) in families with sporadic and familial schizophrenia.

BACKGROUND: Within the field of genetic schizophrenia research, eye-tracking dysfunction can be regarded as a putative trait marker in families with multiple occurrences of the disease (familial schizophrenia). We concentrated on families with single occurrences of schizophrenia (sporadic schizophrenia) to test whether a genetic factor may be present in these families as well. METHODS: Eye movements were recorded using infrared oculography in eight families with sporadic schizophrenia (44 members), eight families with familial schizophrenia (66 members), and nine nonpsychotic families (77 members). Triangle-wave stimuli at 15 degrees /sec and 30 degrees /sec were used, and gains (eye velocity/target velocity), rates, and amplitudes of saccades (classified as catch-up and anticipatory saccades) were determined. RESULTS: 1) In sporadic-schizophrenia families, gain values, saccade rates, and anticipatory saccade amplitudes at 30 degrees /sec differed in a statistically significant fashion from nonpsychotic families, but not from families with multiple occurrences of schizophrenia, and 2) at 30 degrees /sec, a significant effect of target direction on smooth-pursuit maintenance was observed in both sporadic- and familial-schizophrenia families. CONCLUSIONS: Our results support the hypothesis that genetic factors may be present even in sporadic-schizophrenia families and may contribute to a more precise and biologically based definition of the schizophrenia phenotype in future molecular genetic analysis.

Adult↗
PubMed2003

Using the family covenant in planning end-of-life care: obligations and promises of patients, families, and physicians.

Physicians and families need to interact more meaningfully to clarify the values and preferences at stake in advance care planning. The current use of advance directives fails to respect patient autonomy. This paper proposes using the family covenant as a preventive ethics process designed to improve end-of-life planning by incorporating other family members--as agreed to by the patient and those family members--into the medical care dialogue. The family covenant formulates advance directives in conversation with family members and with the assistance of a physician, thereby making advance directives more acceptable to the family, and more intelligible to other physicians. It adds the moral force of a promise to the obligation of respecting a patient's preferences about end-of-life care. These negotiations between patient, family, and physician, from early planning phases through implementation, should greatly reduce the incidence of family disagreements on what the patient would have wanted. The family covenant ensures advance directive discussions within the family, promotes and respects the autonomy of other family members, and might even spur others in the family to complete advance directives through additional covenants. The family covenant holds the potential to transform moral quagmires into meaningful moral conversation.

Advance Directives↗
PubMed2006

Differences in IGFBP-3 regulation between young healthy women from BRCAX families and those belonging to BRCA1/2 families.

Since IGF-1 and IGFBP-3 levels have been implicated in premenopausal breast cancer, we aimed to explore whether there were differences in IGF-1 and IGFBP-3 regulation between women from BRCA1/2 families and from families in which no BRCA1/2 mutations could be detected, that is, from BRCAX families. One hundred and one healthy 18-40-year-old women from hereditary breast cancer families with known BRCA1/2 mutations and 111 women from BRCAX families completed a questionnaire including information on reproductive factors and oral contraceptive use. We measured height, weight, and plasma IGF-1 and IGFBP-3 levels during menstrual cycle days 5-10 and again during cycle days 18-23. IGF1 and IGFBP3 genotypes were determined. Women from BRCAX families had higher IGFBP-3 levels than women from BRCA1/2 families during cycle days 5-10 (P=0.08) and cycle days 18-23 (P=0.0001). The IGFBP3 (A-202C) A allele also segregated at a significantly higher frequency among women from BRCAX families than among women from BRCA1/2 families (40.3 versus 30.3%; P=0.04). The IGFBP3 genotype was highly associated with the IGFBP-3 levels during cycle days 5-10 and 18-23 (Ptrend=0.0004 and Ptrend=0.0003, respectively). After taking the IGFBP3 genotype into account, IGFBP-3 levels were still significantly higher in women from BRCAX families during cycle days 18-23 (P=0.004). No differences were found in IGF1 genotype or IGF-1 levels or the ratio of IGF-1 to IGFBP-3 between women from BRCAX and BRCA1/2 families. In conclusion, we found significant differences in IGFBP-3 regulation between young healthy women from BRCAX families and those belonging to BRCA1/2 families. It is possible that a subgroup of the BRCAX families has an increased risk of breast cancer because of high IGFBP-3 levels.

Adult↗
PubMed1995

The family dynamics of childbearing and childrearing families in Finland.

Within the context of an international comparative family dynamics project, this study had two chief goals: to describe the family dynamics of childbearing and childrearing families in Finland, and to study changes in family dynamics after childbirth. The sample consisted of families expecting (n = 118) and rearing (n = 94) their first or second child in Finland. Two instruments were used in data collection, i.e. the Family Dynamics Questionnaire and the Family Dynamics Measure; both these tools have been developed in the USA. According to the results, childbearing and childrearing families were thought to function quite well. Pregnant mothers described their family dynamics in more positive terms than fathers, reporting greater flexibility and clearer communication. Similarly, mothers reported more individuation and mutuality than their partners. First-time expectant families reported more mutuality than families expecting their second child. Childrearing mothers reported more individuation, but also more role conflict than did fathers. Communication in families rearing their first child was clearer than in families rearing their second child. The birth of a child affected family dynamics by bringing about various changes such as role conflict, isolation and distorted communication.

Adaptation, Psychological↗
PubMed1998

Factors distinguishing families of patients with psychogenic seizures from families of patients with epilepsy.

PURPOSE: Psychogenic seizures (PS) (emotionally based nonelectrical seizures) have been explained by psychodynamics and trauma. However, the family health literature suggests that somatization, of which psychogenic seizures are a form, may run in families and be determined by family patterns of response to distress. This study compared families of patients with PS and those of patients with epilepsy on variables of distress (anxiety and depression) and somatization. METHODS: Eighteen patients (9 with PS and 9 with epilepsy) matched for age and education, and their families answered the Health Status Questionnaire (HSQ), the Weinberger Adjustment Inventory (WAI), the Family Emotional Involvement and Criticism Scale (FEICS), Barsky's Somatization Symptom Inventory (SS), and the Dissociation Experience Scale (DES). Family members' scores were averaged to obtain "family scores." RESULTS: Patients with PS and those with epilepsy did not differ in any of the measures. However, families of patients with PS reported more health problems, distress, and criticism than did families of patients with epilepsy (p < 0.05). Families of patients with PS had increased criticism and somatic problem scores comparable to those of both types of patients. CONCLUSIONS: Although epilepsy causes patients physical and emotional problems, their families are relatively healthy. In contrast, families of patients with PS are more troubled and may unwittingly contribute to PS through family distress, criticism, and tendencies to somatize.

Adult↗
PubMed1989

Spatiality of the family's inner structure: choice of seat in family therapy.

Many family therapists have observed that the family's choice of seat in the family therapy session provides information concerning the inner structure of the family. The purpose of this study was to study certain aspects of this observation. The selection of seats in family therapy sessions and the mutual distances between family members were investigated for 13 families. The inner structure of the family is described in terms of the existence of problematic relationships and the distribution and quality of power as assessed by the family therapists. The family members' selection of seats in the family therapy session was compared to the sitting order at meals, watching TV at home, and family drawings. It was found that the distance between the father and the patient (a son or daughter) and the location of the father and the mother in relation to each other in the family therapy are more related to the inner structure of the family than to situational factors.

Family↗
PubMed1996

The Melbourne Family Grief Study, II: Psychosocial morbidity and grief in bereaved families.

OBJECTIVE: The aim of this study was to describe the intensity of grief, the psychosocial morbidity, and the coping patterns in members of families classified according to a typology of family functioning comprising supportive, conflict-resolving, intermediate, sullen, and hostile classes. METHOD: One hundred fifteen families were assessed longitudinally 6 weeks (time 1), 6 months (time 2), and 13 months (time 3) after the death of a parent (constituting 670 individual responses) on measures of grief intensity, psychological state, social adjustment, and family coping. A previously described typology of perceptions of family functioning was applied. Repeated measures multivariate analysis of variance based on both individuals and families and post hoc comparisons of significant results were undertaken. RESULTS: Sullen families displayed the most intense grief and the most severe psychosocial morbidity. Well-functioning families (supportive and conflict-resolving) resolved their grief and adjusted more adaptively than their dysfunctional counterparts (intermediate, sullen, and hostile families). There were no cluster-by-time interactions. The clusters accounted for 15.7% of the variance in depression (Beck Depression Inventory) and 27.9% of the variance in social functioning (Social Adjustment Scale). Well-functioning families used more family coping strategies (Family Crisis Oriented Personal Evaluation Scales). CONCLUSIONS: More intense grief and greater psychosocial morbidity are found in sullen, hostile, and intermediate bereaved families than in the more adaptive supportive and conflict-resolving types. At-risk families are identifiable and could be treated preventively to reduce morbidity.

Adaptation, Psychological↗
PubMed2006

Using families as faculty in teaching medical students family-centered care: what are students learning?

BACKGROUND: Teaching family-centered health care is an important facet of medical education. Families are increasingly being used as faculty to teach first-person family-centered care. PURPOSE: To elucidate what medical students are learning from their family visits. METHODS: Fifty-eight pediatric clerkship students at the University of Vermont College of Medicine completed a home visit with a family with a child with chronic disabilities. After the home visit, students were asked to complete a reflection paper. The content of these papers was analyzed for repeated themes. Two themes emerged: discussions of family issues (e.g., normalcy, challenges, community support) and physician issues (e.g., listening, parent support, knowledge of disease.) RESULTS: Sixty-six percent of the students noted that family challenges, such as divorce or job hardships, were talked about by the families. The 2nd and 3rd most noted reflection themes were the strengths within family relationships and the normalcy of the family. Physician issues most often discussed included how physicians did or did not collaborate, listen, support, or communicate clearly with families. CONCLUSIONS: Students are learning valuable lessons while talking with and learning from families. Families as faculty are educators for the conveyance of family-centered medical care.

Clinical Clerkship↗
PubMed2001

Does the family APGAR effectively measure family functioning?

BACKGROUND: The Family APGAR has been widely used to study the relationship of family function and health problems in family practice offices. METHODS: Data were collected from 401 pediatricians and family physicians from the Pediatric Research in Office Settings network and the Ambulatory Sentinel Practice Network. The physicians enrolled 22,059 consecutive office visits by children aged 4 to 15 years. Parents completed a survey that included the Family APGAR and the Pediatric Symptom Checklist. Clinicians completed a survey that described child psychosocial problems, treatments initiated or continued, and specialty care referrals. RESULTS: Family dysfunction on the index visit often differed from dysfunction at follow-up (kappa=0.24). Only 31% of the families with positive Family APGAR scores at baseline were positive at follow-up, and only 43% of those with positive scores at follow-up had a positive score at the initial visit. There were many disagreements between the Family APGAR and the clinician. The Family APGAR was negative for 73% of clinician-identified dysfunctional families, and clinicians did not identify dysfunction for 83% of Family APGAR-identified dysfunctions (kappa=0.06). CONCLUSIONS: Our data do not support the use of the Family APGAR as a measure of family dysfunction in the primary care setting. Future research should clarify what it does measure.

Adolescent↗
PubMed1992

[Influence of family history over several generations on schizophrenic patients--study of a special type of stem family where a husband is found for the heiress].

Family histories over several generations were studied, since it was considered that these might have various influences on the descendants, We hypothesized that poor home management policy by the parental generation would have greater influence on the onset of schizophrenia in the offsprings, and later their social adjustment. To test this theory, twenty families of a special type, called "mukotori-kazoku" in Japanese, which literally means a family that takes in a husband for the sole heiress in the absence of a male heir, were chosen; ten of these families had a schizophrenic patient (schizophrenic group) and the other ten did not (control group). In this type of stem family, the husband (bridegroom) changes his family name to that of the wife and lives with the wife's family, to whom he is generally obliged to devote himself. Such a "mukotori-kazoku" tends to be run mainly in order to preserve or develop the family, and thus provides a good model for investigation of home management policy. Before presenting the results of this study, our former findings should be mentioned. We found that there tends to be a cycle in the family history over several generations consisting of three periods: a period of destruction, a period of reconstruction and a period of stability. All of the schizophrenic patients we studied previously became ill as the cycle was approaching the period of stability. The results of the present study were as follows. In the schizophrenic group on the maternal side, there was always a period of destruction during the great-grandparents' and/or grandparents' generation. Most of the patients' mothers (heiresses) were forced to devote themselves to family reconstruction and had married unwillingly. Similarly, in the former generation on the paternal side, a period of destruction was often observed. Most of the patients' fathers had been treated as a nuisance in their family or origin, and had been obliged to marry out of the family, and/or they had considered that marriage was the easiest path to economic independence. The patients' family members were so indifferent to the father that he became isolated within the family.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗
PubMed2002

Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families.

BACKGROUND: Dementia with Lewy bodies (DLB) is characterized by early dementia and associated visual hallucinations, parkinsonism, and fluctuations in cognition. Few families with DLB have been described with detailed clinical, pathological, and genetic assessments. OBJECTIVE: To investigate the clinical, neuropathological, and genetic characteristics of families with 2 or more autopsy-proven cases of DLB. DESIGN: Consecutive cases with the neuropathological diagnosis of DLB were reviewed as part of a case series. Families included in this study have 2 or more autopsy-proven cases of DLB available and a positive family history of dementia. We obtained clinical and neuropathological data on all first-degree relatives. Neuropathological evaluations included alpha-synuclein immunostaining for Lewy body detection. We conducted apolipoprotein E genotyping and sequenced the alpha-, beta-, gamma-synuclein, and parkin genes. SETTING: Subjects were selected from the neuropathology core of the University of Washington's Alzheimer's Disease Research Center. PATIENTS: The study investigated 2 families. Clinical information was obtained from 10 individuals in family 1 and 7 individuals in family 2. Neuropathological examinations were conducted in 3 individuals in family 1 and 2 individuals in family 2. MAIN OUTCOME MEASURES: Each subject was examined for the presence of clinical symptoms and neuropathological findings consistent with DLB. RESULTS: While all affected individuals presented with dementia in both families, only individuals in family 1 developed visual hallucinations and delusions. Parkinsonism, if present, occurred later in the course of illness. Neuropathological examination revealed Lewy bodies in all patients, while 1 patient from each family also met the neuropathological criteria for Alzheimer disease. All affected individuals carried at least 1 APOE (apolipoprotein E) epsilon 4 allele, while there were no nucleotide alterations in the synuclein or parkin genes. CONCLUSIONS: Familial DLB exists, although there is substantial clinical and neuropathological heterogeneity within and between families. Additional clinicopathologic and genetic studies are necessary to further our understanding of DLB.

Aged↗