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PubMed2002

Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy.

OBJECTIVES: This study evaluated the role of clinical rescreening of family members at risk for familial dilated cardiomyopathy (FDC). BACKGROUND: Familial dilated cardiomyopathy is a genetic cardiomyopathy that usually is transmitted in an autosomal dominant pattern and may underlie from one-quarter to one-half of idiopathic dilated cardiomyopathy (IDC) diagnoses. Thus, FDC may present with advanced heart failure (HF) or sudden cardiac death (SCD). Because FDC may respond to medical intervention, we have previously recommended that screening of first-degree relatives (parents, siblings, children) of patients diagnosed with IDC be undertaken to rule out FDC, and that with a diagnosis of FDC in the kindred, unaffected but at-risk family members be rescreened every three to five years. METHODS; Follow-up screening (history, examination, electrocardiogram, echocardiography) of a large family with FDC was performed six years after initial screening. Of 68 family members who underwent rescreening, two (one with left ventricular enlargement only, one with a left bundle branch block) presented with advanced HF and SCD, respectively. Two additional subjects, asymptomatic at initial screening, were also affected with FDC at follow-up. CONCLUSIONS: Considerable vigilance for disease presentation and progression is indicated in at-risk members of a kindred with FDC, especially those with incipient FDC.

Adolescent↗
PubMed2005

Developing a family function questionnaire for families with developmentally delayed children.

The purpose of this study was to develop a "Family Function Questionnaire for Families with Developmentally Delayed Children". The questionnaire was created by sampling 300 parents with developmentally delayed children. Initially, families and early intervention services were observed and a qualitative interview with the child's family was conducted. The researchers created a family function database reflecting these steps and by referral to relevant literature. The final version of the questionnaire consisted of 42 items in 11 categories: cohesion, education, problem solving, affective involvement, independence, action participation, family support, recreation, rules implementation, collaboration, and financial management. The questionnaire had a Cronbach's alpha of 0.9326.

Child↗
PubMed1997

Observed family interaction during clinical interviews: a comparison of families containing preschool boys with and without disruptive behavior.

The clinical intake interview is an opportunity to observe family interactions and formulate hypotheses about their influence on presenting problems. In this study family interactions were assessed during an unstructured segment of a clinical intake. Families with disruptive preschool boys were compared with those having nonproblem boys. Mother's and fathers' reports of marital satisfaction, parenting involvement, and child behavior problems were examined in relation to observed behavior during intake. Patterns of family interaction emerged which were consistent with previous research and with family systems theory. Clinic boys oriented more toward mothers than fathers and interacted more negatively with their fathers than did comparison boys. Implications for integrating the assessment of family interactions into clinical practice and research with behavior problem children are discussed.

Adult↗
PubMed2000

Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in Chinese and German families.

We examined familial combined hyperlipidemia (FCHL) families from nonisolated regions in Germany and China to see if we could corroborate support for a chromosome 1q FCHL locus in more general populations. We recruited 24 German families with 137 members, 92 of whom met the criteria of affected in terms of the low density lipoprotein (LDL) and triglyceride levels in excess of the 90th percentile for age and gender. In China, we recruited 12 families with a total of 81 members. All affected persons had total cholesterol concentrations >240 mg/dl and triglyceride concentrations >250 mg/dl. We examined the markers APOA2, D1S1677, D1S104, D1S194, D1S426, and D1S196. Two-point linkage analysis allowing for heterogeneity gave a maximum linkage of disorder score (HLOD) of 2.60 right over D1S194, estimating the proportion of linked families at 36%. This marker is adjacent to D1S104. The evidence for linkage was roughly the same both in the German (HLOD 1.40) and Chinese families (HLOD 1.52). Marker D1S194 is close to the retinoid X receptor (RXR) gene locus, which was found to be linked to triglyceride levels in an earlier twin study from our laboratory. We interpret our observations as encouraging support for the recent findings indicating the presence of a gene for FCHL on chromosome 1q. Furthermore, since DIS194 is adjacent to the gene for the RXR, we suggest that RXR is an attractive candidate for involvement in FCHL.

Adult↗
PubMed1999

Family instability and the problem behaviors of children from economically disadvantaged families.

This longitudinal study examined the relation between family instability and the problem behaviors of children from economically disadvantaged families. Family instability was assessed when the children were ages 5 and 7 and included number of residence changes, changes of intimate caregiver relationships, and recent negative life events. The results showed direct concurrent relations between family instability and preschool children's externalizing behavior in the context of other family process variables, relations between subsequent family instability and 1st-grade children's internalizing behavior (i.e., with preschool behavior ratings controlled), and an effect for persistent instability across grade. Moderator effects were also found for child variables, including gender, temperamental adaptability, and prior externalizing scores.

Adaptation, Psychological↗
PubMed2002

Integrating family routines and rituals with other family research paradigms: comment on the special section.

The articles in this special section represent cutting edge research on family routines and rituals. This comment discusses how this work may inform and be informed by other family research. This includes studying how routines develop, are maintained, and reorganize as well as how they influence individual outcomes through effects on socialization, security, and adaptation to stress. Applications of research on family routines to enhance prevention and treatment are also discussed. New directions for the study of family rituals are discussed, including how ritual events may have long-term effects on family interaction through discontinuous changes in relationship expectations of family members.

Ceremonial Behavior↗
PubMed2004

Familial correlations and inter-relationships of four asthma-associated quantitative phenotypes in 320 French EGEA families ascertained through asthmatic probands.

Asthma is a complex disease, associated with biological and physiological phenotypes including immunoglobulin E (IgE) levels, sum of positive skin prick tests to allergens (SPTQ), eosinophil counts (EOS) and percent predicted forced expiratory volume in 1 s (%FEV1). We investigated the patterns of familial correlations and the inter-relationships of these four quantitative phenotypes, using the general class D regressive model, in 320 French EGEA nuclear families ascertained through 204 offspring (set A) and 116 parents (set B). Familial correlations of IgE and SPTQ were consistent with a model including no spouse correlation and equal parent-offspring and sib-sib correlations (rhoPO = rhoSS = 0.25 for IgE and 0.15 for SPTQ), this model being compatible with an additive polygenic model in the whole sample and the two family subsets A and B. Different patterns of familial correlations of EOS and %FEV1 were observed in these two sets. In set A, the best fitting model included no spouse correlation and equality of parent-offspring and sib-sib correlations (rhoPO = rhoSS = 0.14 for EOS and 0.23 for %FEV1). In set B, EOS had only a significant rhoSS of 0.28, while %FEV1 had significant rhoMO of 0.28 and rhoSS of 0.16. Analysis of shared familial determinants between these phenotypes indicated an overlap of at most 30% in rhoFO for IgE and SPTQ and in both rhoFO and rhoMO for IgE and EOS, while determinants of %FEV1 and atopy-related phenotypes appear distinct. These results may have implications for further linkage and association studies with genetic markers.

Adolescent↗
PubMed2002

Kidney cancer in the Swedish Family Cancer Database: familial risks and second primary malignancies.

BACKGROUND: Familial risks in kidney cancer and association with second primary malignancies were studied using the nationwide Swedish Family Cancer Database. METHODS: Cancer data were retrieved from the Swedish Cancer Registry from years 1961 to 1998 and included 23,137 cases of kidney cancer. Standardized incidence ratios (SIRs) were used to measure the cancer risks. RESULTS: Seventy-one families were identified where both a parent and an offspring had kidney cancer, giving a familial risk for offspring of 1.56 (1.22 to 1.95) and population attributable proportion of 0.78%. A risk for kidney cancer from an affected sibling was considerably higher with a SIR of 4.72 (2.28 to 9.20), giving an attributable proportion of 0.77%. The discordant tumor site that was associated with kidney cancer between two generations was hemangioblastoma of central nervous system. Discordant cancer sites that were associated with kidney cancer in siblings were ovaries, endocrine glands and pancreas. There was an over threefold increase of second primary malignancies of the urinary bladder, nervous system and endocrine gland in kidney cancer patients. The risks for second primary hemangioblastoma following kidney cancer or familial kidney cancer was 21.19 (6.69 to 43.83) and 1206 (114 to 3456), respectively. CONCLUSIONS: The high ratio of sibling risk to offspring risk in kidney cancer may reflect a recessive susceptibility. The high risk for second primary cancers in the patients without family history is consistent with a polygenic model and variable degree of environmental modification.

Adolescent↗
PubMed2004

Contribution of chromosome 1q21-q23 to familial combined hyperlipidemia in Mexican families.

Familial combined hyperlipidemia (FCHL) is the most common familial dyslipidemia, with a prevalence of 1-2% in the general population. A major locus for FCHL has been mapped to chromosome 1q21-q23 in Finnish, Chinese, German and US families. We studied seven extended Mexican families with 153 members, including 64 affected subjects. A total of 11 markers were genotyped, including D1S104 which has been linked to FCHL in other studies. Two point linkage analysis for the FCHL phenotype, and for the elevated triglyceride (TG) trait, allowing for heterogeneity, gave a maximum HLOD of 1.67 (alpha = 0.49) and 1.93 (alpha = 0.43) at D1S2768 (2.69 cM proximal to D1S104) respectively. Heterogeneity and non-parametric (NPL) multipoint analyses for the FCHL phenotype and the TG trait showed maximum HLODs of 1.27 (alpha = 0.46) and 1.64 (alpha = 0.38), and NPLs of 4.00 (P = 0.0001) and 3.68 (P = 0.0003) near D1S2768, respectively. In addition, analysis of four candidate genes putatively involved in the expression of FCHL showed no evidence of linkage for the LCAT gene or the APOA1/C3/A4/A5 gene cluster. However, we cannot exclude the participation of these genes, or the LIPC and LPL genes, as minor susceptibility loci in the expression of FCHL, or the TG or elevated total cholesterol (TC) traits in our families. In conclusion, our data confirm the involvement of a major susceptibility locus on chromosome 1q21-q23 in FCHL Mexican families, consistent with findings in other populations.

Adolescent↗
PubMed1985

[The family and chronic disease. A review of recent family and medical sociology research with special reference to Huntington chorea].

This review discusses actual results of family-oriented medical sociology in the Federal Republic of Germany in relation to Anglo-American findings. Recently the paradigm of family theory has changed also in the Federal Republic of Germany from considering the family as a disturbing factor, to interpreting it as a system of support. In dealing with the contemporary research, now centered around social support by the family as well as by an extended social network, possible inconsistencies of terms like family dynamics, structure and system are discussed. A final methodological discussion shows that results depend on the methods. This leads to a possible concept of a pattern of research which is better adapted to the family as a whole.

Family↗
PubMed2001

Paternal and maternal influences on family functioning among Hong Kong Chinese families.

The linkages between dyadic relationships in the family and family functioning were examined in 378 Chinese families on two occasions. The following dyadic relationships were investigated: (a) parent-child relationship qualities reported by adolescent children (questionnaire and interview measures of parenting style, parent-adolescent conflict, parent-adolescent communication, and parent-adolescent relationship) and by their parents (questionnaire measures of parent-child relationship quality and demand); and (b) marital quality reported by the parents via questionnaire measures. Results showed that parents' and children's views of family functioning were longitudinally related to dyadic relationships in the family. Relative to mother-adolescent relationship and mothers' report of marital quality, father-adolescent relationship and fathers' report of marital quality were generally found to have a stronger association with perception of family functioning and its change over time.

Adolescent↗
PubMed1997

Family needs after traumatic brain injury: a factor analytic study of the Family Needs Questionnaire.

The present investigation examined the empirical and theoretical validity of an instrument developed to assess family members' perceptions of needs following the brain injury of a relative. The Family Needs Questionnaire (FNQ) consists of 40 items reflecting commonly reported family needs. The development of the items was based on the literature describing family reactions to brain injury and other medical disabilities. A principal-components factor analysis was executed based on the FNQ responses of 178 family members. A six-factor solution was selection as the best fit for the data, yielding the following independent subscales: (1) Need for Health Information; (2) Need for Emotional Support; (3) Need for Instrumental Support; (4) Need for Professional Support; (5) Need for a Support Network; and (6) Need for Involvement with Care. Further analysis indicated at least adequate internal reliability for each scale. Overall, the measure appears to offer unique information relevant to family members' needs after brain injury.

Adaptation, Psychological↗
PubMed2002

Family themes of food refusal: disciplining the body and punishing the family.

A problematic issue in studying anorexia nervosa (AN) has been the absence of a qualitative study that probes the deep meanings of food refusal. We attempt to close this gap by studying the family meanings of food refusal by a single case study of a family in Hong Kong with an AN daughter. Eight videotapes of family therapy sessions, each lasting 90 minutes, were intensively reviewed, transcribed verbatim, and content analyzed. Two family themes of food refusal were discerned: the AN daughter disciplined her body and punished her family. The conclusions imply a need to revisit the Chinese gender role expectation in understanding AN patients and their families.

Adult↗
PubMed2005

Telepsychiatry with child welfare families referred to a family service agency.

A telepsychology and telepsychiatry service, using ISDN interactive video H.320, providing psychological consultations for the Family Resource Center in Farmington, New Mexico, was evaluated. During the first year of service, 56 individuals participated including University of New Mexico staff, Family Resource Center staff and clients. Consultations involved children from families referred by the Children, Youth and Family Department (CYFD) in New Mexico. Telemedicine was used in some child abuse cases. This study investigated whether the quality and acceptance of telemedicine consultations were comparable to face-to-face interactions in a group referred by a state child welfare agency. Participants received formal written consultation reports after the video conferencing sessions, which included a number of recommendations. Participants were asked to complete an anonymous questionnaire to rate various aspects of videoconferencing. The participants rated the university staff as involved, enjoyed the Family Resource Center staff's presence, felt the procedure was useful for evaluation purposes, found the format allowed for discussions of problems, and felt that the format was useful when compared to face-to-face consultations. The participants also said they had followed up on many of the recommendations. Videoconferencing appears to be a viable approach for providing consultation for families referred by a state child welfare agency. Several participants rated the session as both educational and consultative compared to simply therapeutic.

Child↗
PubMed1999

Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features.

Clinicopathological and genetic features were assessed on 35 Japanese families affected by late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy, FAP TTR Met30) whose siblings were unrelated to endemic Japanese foci. In these patients (50 years or older), the most common initial symptom was paraesthesias in the legs. Autonomic symptoms were generally mild and did not seriously affect daily activities. The male-to-female ratio was extremely high (10.7 : 1). A family history was evident in only 11 out of 35 families, and other patients were apparently sporadic. The rate of penetrance was very low. Symptomatic siblings of familial cases showed a late age of onset, male preponderance and clinical features similar to those of the probands. Asymptomatic carriers, predominantly female, were detected relatively late in life. The geographical distribution of these late-onset, FAP TTR Met30 cases was scattered throughout Japan. In three autopsy cases and 20 sural nerve biopsy specimens, neurons in sympathetic and sensory ganglia were relatively preserved. Amyloid deposition was seen in the peripheral nervous system, particularly in the sympathetic ganglia, dorsal root ganglia and proximal nerve trunks such as sciatic nerve. These abnormalities were milder than those seen in typical early-onset FAP TTR Met30, as observed in two Japanese endemic foci of this disease. While axonal degeneration was prominent in myelinated fibres, resulting in severe fibre loss, unmyelinated fibres were relatively preserved. Our cases of late-onset FAP TTR Met30 showed features distinct from those of typical early-onset FAP TTR Met30 that occurred in the two Japanese endemic foci. Factors responsible for clinicopathological differences between these two forms of FAP TTR Met30 need to be identified.

Action Potentials↗
PubMed1991

Demonstrating the characteristics of family practice through the family medicine clinic located at a college hospital.

During its development, family practice in Taiwan has been housed at the university/college hospitals, and different settings have served as the main bases for service and teaching. To demonstrate the progress made in the family medicine clinic at the Chung Shan Medical College Hospital and to evaluate the appropriateness of this kind of family practice setting, our patient population of 616 was investigated. There were 5177 patient encounters during the period from September 1987 to August 1989. Of 616 patients, 52.3% were male, the average age was 38.5 years, 85.1% lived in Taichung, where the hospital is located, and 60.1% were insured. A total of 117 families, containing 310 members, made up 50.3% of the patient population. Most patients (64.0%) visited us after introductions by their relatives or friends. There was an average of 4.2 visits per patient per year, and only 6.3% of patients were lost to follow-up after their first visits. The three leading causes for visits to the Family Medicine Clinic were general medical examination (14.5%), acute upper respiratory tract infection (13.6%), and peptic ulcer diseases (8.0%): these comprised 36.1% of all patients' problems. The average referral rate among the 5177 patient encounters was 2.9%. Patient education about treatment of disease, immunization against hepatitis B, and screening for liver cirrhosis/hepatoma in hepatitis B antigen carriers were the most common preventative encounters in our clinic. In conclusion, university/college hospitals are certainly not the best site for service and teaching of family practice, since they are not based on ambulatory care.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1997

Typologies of caregiving families: family congruence and individual well-being.

Data from 252 female primary caregivers, their husbands, and children living in multigenerational households were used to create family typologies based on the extent of similarity among reports of elder behaviors. Analysis of variance indicates that families characterized by high agreement and those characterized by low agreement were significantly different from one another on a number of dimensions. When the relationship between caregiver-reported stressors and mental health was examined as a function of family typology, results indicate that for high agreement families there were significant correlations between the caregiver's report of the elder's behaviors and her burden; satisfaction with caregiving; relationships with her husband, child, and elder; and depression. Similar relationships characterize data reported by husbands and children in high agreement families. For families characterized by low agreement, the majority of these relationships were not significant.

Adaptation, Psychological↗
PubMed1993

Assessment of dementia patients and their families: an ecological-family-centered approach.

Demand for assessment and treatment of dementia patients and their families is expected to increase substantially by the end of this decade, considering current estimates of about 4 million dementia patients. This article guides social work practice in the assessment of dementia patients and their families using an ecological-family-centered (EFC) model of practice. A case presentation illustrates how to apply the ECF model while incorporating ethnically sensitive practice principles. The model organizes complex assessment issues that often arise when working with families of dementia patients and illustrates the significance of cultural diversity in case practice. Literature on families of dementia patients is reviewed, an intervention plan for the family system is outlined, and implications for practice are noted.

Black or African American↗