Familial component of epilepsy in cleft lip and palate

It is well recognized that offspring of women with epilepsy who are taking anticonvulsant medications have an increased incidence of clefting abnormalities. This increase has been attributed to the teratogenic effects of anticonvulsant medications but an alternative explanation involving a genetic association of epilepsy and clefting has also been proposed. Five family studies attempting to resolve this controversy have been inconclusive either because of study design or analytic limitations. This family study was designed to determine whether epilepsy aggregates in families ascertained by an individual with a clefting disorder. The Mayo Clinic medical linkage registry was used to identify individuals with cleft lip with or without cleft palate and cleft palate in southeast Minnesota from 1935-1986. Only those cases who were 15 years or younger during this period were included in the study. The proband's parents and descendants of their parents, including the proband's sibs, children, grandchildren, niece/nephews, grandnieces/nephews, halfsibs and spouses were also identified and all of their medical records were reviewed for seizure disorders. The standardized morbidity ratios for epilepsy of 0.9 (95% CI 0.2-2.6) observed for first degree relatives (excluding parents) and 0.0 for second degree relatives were not increased. The SMRs ranged from 0.7-2.2 for the individual relative types (parents 1.5, sibs 0.7, children 2.2, probands 1.1, spouses 2.0) and were also not increased. These results do not support the suggestions of some that clefting and epilepsy aggregate together in families. ^

Genetic epidemiology of childhood brain tumors

A rare familial cancer syndrome involving childhood brain tumors (CBT), breast cancer, sarcomas and an array of other tumors has been described (Li and Fraumeni 1969, 1975, 1982, 1987). A survey of CBT identified through the Connnecticut Tumor Registry in 1984 revealed a high frequency of CBT, leukemia and other childhood cancer in siblings of CBT patients (Farwell and Flannery, 1984). Other syndromes such as neurofibromatosis and nevoid basal cell carcinoma syndrome have also been associated with CBT; however, no systematic family studies have been conducted to determine the extent to which cancer aggregates in family members of CBT patients. This family study was designed to determine the frequency of cancer aggregation overall or at specific sites, to determine the frequency of known or potentially hereditary syndromes in families of CBT patients, and to determine a genetic model to characterize familial cancer syndromes and to identify specific kindreds to which such a model(s) might apply. This study includes 244 confirmed CBT patients referred to the University of Texas M. D. Anderson Cancer Center between the years 1944 and 1983, diagnosed under the age of 15 years and resident in the U.S. or Canada. Family histories were obtained on the proband's first (parents, siblings and offspring) and second degree (proband's aunts, uncles and grandparents) relatives following sequential sampling scheme rules. To determine if cancer aggregates in families, we compared the cancer experience in the population to that expected in the general population using Connecticut Tumor Registry calendar year, age, race and sex-specific rates. The standardized incidence ratio (SIR) for cancer overall was 0.91 (41 observed (O) and 44.94 expected (E); 95% Confidence Interval (CI) = 0.65-1.24). We observed a significant excess of colon cancer among the proband's first degree relatives (O/E = 5/1.64; 95% CI = 1.01-7.65), in particular those under age 45 year. Segregation analysis showed evidence for multifactorial inheritance in the small percentage (N = 5) of the families. ^

Practitioners' Views of Family Strengths: A Delphi Study

Reported is a research study to assess the opinions of family practitioners on the status of families in Oklahoma. Researchers employed the Delphi method to achieve consensus among key informants in the family practice field about the strengths and weaknesses of Oklahoma families, threats facing families in the state, and means to strengthening family life in Oklahoma. The study yielded qualitative data from the key informants, which the researchers then condensed into response categories to feed back to informants to rate. Family practitioners identified resilience, spirituality, and access to support systems as the greatest strengths, and listed substance abuse, poverty, and generational cycles of dysfunction as the greatest weaknesses of Oklahoma families. Recommendations by these practitioners are given for improvements in addressing family needs.

Commentary on "Practitioners’ Views of Family Strengths: A Delphi Study"

Commentary on "Practitioners’ Views of Family Strengths: A Delphi Study"

Coordination of Family Preservation Services in a Rural Community: A Case Study

Family preservation programs designed to prevent the out-of-home placement of children depend on the coordination of services from multiple agencies. Little is known regarding how coordination occurs. This case study examined this issue. Information was sought from all workers who provided services to each of five families and 'from families' case records. Thirty-one workers were interviewed with a semi-structured interview schedule containing rating scales and questions with open-ended response formats. Case records were reviewed with a case record review form. Analyses of data revealed the following. Services were coordinated to a moderate degree but that coordination deteriorated over time. Workers elaborated how aspects of communities, human service agencies, workers, and families affected coordination. Implications of findings for future research were drawn.

Family Preservation Services to At-Risk Families: A Macro Case Study

Although the literature has provided many critiques of research done on family preservation programs, these critiques have usually been limited to the studies ' assumptions, approach, or methodology. Because of the nature of these critiques, suggestions for future research in this field of practice have been scattered throughout the literature and have not benefited from a wider historical perspective. This paper examines the historical evolution of family preservation studies in child welfare and suggests future directions for research in the field. Among the suggestions the authors posit are (1) research questions should be framed by what we know about improvements in the lives of families and children served by family preservation programs; (2) future explorations should include areas that have received relatively little attention in current research, including the impact of organizational conditions on service fidelity and worker performance; (3) newer treatment models, particularly those that provide both intensive services during a crisis period and less intensive services for maintenance, should be tested; (4) data collection points in longitudinal studies should be guided by theory, and measures should change over time to reflect the theoretically expected changes in families; (5) complex measures of placement prevention and other measures that capture changes in family functioning, child well-being, and child safety, should be utilized to obtain a full picture of program effects; and (6) multiple informants should be used to provide data about program effectiveness. In addition, the authors will argue that the field should carefully consider the amount of change that should be expected from the service models delivered.

Characterization of glucocorticoid receptor (NR3C1) gene polymorphisms and a family-based association study with hypertension

Hypertension is usually defined as having values of systolic blood pressure ≥140 mmHg, diastolic blood pressure ≥90 mmHg. Hypertension is one of the main adverse effects of glucocorticoid on the cardiovascular system. Glucocorticoids are essential hormones, secreted from adrenal glands in circadian fashion. Glucocorticoid's effect on blood pressure is conveyed by the glucocorticoid receptor (NR3C1), an omnipresent nuclear transcription factor. Although polymorphisms in this gene have long been implicated to be a causal factor for cardiovascular diseases such as hypertension, no study has yet thoroughly interrogated the gene's polymorphisms for their effect on blood pressure levels. Therefore, I have first resequenced ∼30 kb of the gene, encompassing all exons, promoter regions, 5'/3' UTRs as well as at least 1.5 kb of the gene's flanking regions from 114 chromosome 5 monosomic cell lines, comprised of three major American ethnic groups—European American, African American and Mexican American. I observed 115 polymorphisms and 14 common molecularly phased haplotypes. A subset of markers was chosen for genotyping study populations of GENOA (Genetic Epidemiology Network of Atherosclerosis; 1022 non-Hispanic whites, 1228 African Americans and 954 Mexican Americans). Since these study populations include sibships, the family-based association test was performed on 4 blood pressure-related quantitative variables—pulse, systolic blood pressure, diastolic blood pressure and mean arterial pressure. Using these analyses, multiple correlated SNPs are significantly protective against high systolic blood pressure in non-Hispanic whites, which includes rsb198, a SNP formerly associated with beneficial body compositions. Haplotype association analysis also supports this finding and all p-values remained significant after permutation tests. I therefore conclude that multiple correlated SNPs on the gene may confer protection against high blood pressure in non-Hispanic whites. ^

Lessons for emerging state Children's Health Insurance Premium Assistance programs: Case study of the Massachusetts Masshealth Family Assistance Program (MHFAP)

Providing health insurance coverage for vulnerable populations such as low-income high-risk children with limited access to health care is a challenge for many states. Over the past decade, higher private insurance premiums and unpredictable labor markets have increased the number of uninsured and underinsured children nationwide. Due to recent economic downfalls, many states such as Texas, have expressed interest in using premium assistance programs to increase enrollment of low income children and families in private coverage through employer sponsored health insurance. Massachusetts has been especially successful in reducing the number of uninsured children through the implementation of MassHealth Family Assistance Program (MHFAP), an employer based premium assistance program. The purpose of this study is to identify key implementation factors of a fully established premium assistance program which may provide lessons and facilitate implementation of emerging premium assistance programs. ^ The case study of the fully established MassHealth Family Assistance Program (MHFAP) has illustrated the ability of states to expand their Medicaid and SCHIP programs in order to provide affordable health coverage to uninsured and underinsured low income children and their families. As demonstrated by MHFAP, the success of a premium assistance program depends on four key factors: (1) determination of participant and employer eligibility; (2) determination of employer benefits meeting benchmark equivalency (Medicaid or State Children's Health Insurance Program); (3) the use of appropriate marketing and outreach strategies; and (4) establishment of adequate monitoring and reporting techniques. Successful implementation strategies, revealed by the case study of the Massachusetts MassHealth Family Assistance Program, may be used by emerging premium assistance programs, such as Texas Children's Health Insurance Premium Assistance Program (CHIP-PA) toward establishment of an effective, efficient, and equitable employer sponsored health program.^

A study of the relationship of support systems and adolescent pregnancy outcomes in an adolescent family life project

This study analyzed the relationship of family support systems and adolescent pregnancy outcomes. The population for the study was 390 adolescents who had attended the Marion County Health Department Adolescent Family Life Project in Indianapolis, Indiana during a two-year period.^ The study is unique in that it afforded the opportunity to compare adolescent pregnancy-related characteristics, of white and non-white adolescents in the same study.^ The pregnancy outcomes studied were: Infant birthweight, school attendance, and pregnancy recidivism.^ Significant results were found in the analysis that supported other research in regard to factors that are associated with school attendance when family support, adolescent's age, and ethnicity were controlled. Infant birthweight and repeat pregnancy outcome relationships were not found to have any consistently significant relationship with independent variables anticipated to be associated. However, the comparisons of infant birthweight among the adolescents with, and without, family support, by ethnicity resulted in some interesting findings. Repeat pregnancy proved an enigma, in that there seemed to be almost no variables in this study that were associated with the adolescent having a repeat pregnancy.^ Familial support in this study seemed to be of less importance as a factor in adolescent pregnancy outcomes than was ethnicity. The non-white adolescents in this study had a better record for remaining in school, both those non-white adolescents who lived with parents, and those who did not live with parents. More low birthweight occurred in the non-white adolescent, both those adolescents who lived with parents, and those who did not live with parents. Repeat pregnancy occurred more in the non-white adolescent whether she lived with parents, or did not live with parents. ^

Study of rural leadership and implications for community participation and development in the health and family planning programs in Bangladesh

The vast majority of Bangladesh are poor and are unable even to provide for the most basic human needs. These are the landless and marginal farmers of Bangladesh. They constitute 70% of the rural population, which in turn constitute about 90% of the country's population.^ Effective development of Bangladesh would largely mean the development of the landless and marginal farmers. Past efforts of development in this section of the population, including that of the government, have not succeeded. One of the development goals of the government of Bangladesh is to improve the quality of life of the rural population through health and population control measures. Overpopulation, malnutrition and diarrhea are the major impediments to socioeconomic development in Bangladesh.^ The current study was designed to identify whether there is effective opinion leadership among the marginal and landless peasants affecting decisions on acceptance or nonacceptance of family planning methods and oral rehydration therapy (ORT) in the selected rural areas of Bangladesh. The study was conducted in eight randomly selected villages with funding from the Ministry of Health and Family Planning, government of Bangladesh. One hundred twenty-five opinion leaders were interviewed after they were identified by 408 rural couples owning land less than 2 acres and wives' age below 50. The study was conducted in two phases; couples' interview preceded that of the leaders.^ Findings of the study reveal that the opinion leaders influencing adoption of health and family planning among the landless and marginal farmers belong to the same class. Theses opinion leaders own land much less than the rich farmers and the formal leaders in the rural areas. Majority of these of opinion leaders are friends, neighbors and relatives, some are other persons who are businessmen and professionals like doctors, while the rest few are the field workers of health and family planning. Source of influence as a factor contribute most in differentiating use and non-use of family planning and ORT among both couples and leaders. The most frequent sources of influence referred by the couples and the leaders are the field workers of health and family planning, followed by the peer opinion leaders (friends, neighbors, relatives) and spouse.^ The opinion leaders do not differ much from the poor couples on land holding, a strong indicator of economic status, they however differ considerably on social factors such as family planning practice, education, and exposure to mass media.^ The study suggests that future development efforts in Bangladesh have to ensure community participation by the landless and marginal farmers and opinion leaders belonging to their class. ^

Are Intensive Family Preservation Services Useful?: A Study in the United Kingdom

This evaluation of the first year of an Intensive Family Preservation Service in England is based on the analysis of eighty-six families: fifty-seven families who received the service and a comparison group of twenty-nine families who did not. The study considered whether the program was fulfilling its objectives of reducing the number of children and young people in the public care system; offering a safe, supportive service for children who need protection; integrating the program into family support services as a whole, and improving family functioning. The findings were complex to interpret. Child protection was improved but there was not a reduction in the number of children needing out of home care (indeed there was an increase) meaning that short term savings in costs could not be made. Nor were there lasting improvements in the children’s behavior. There were instead a number of more subtle, arguably more sensitive outcomes: parents’ capacity to tolerate their child’s behavior was greater and overall family functioning was better for most families who received the service. Also families were, on the whole, able to make better use of follow up services.

A Case Study of an Agency's Three Family Preservation Contracts

This article presents a case study of a nonprofit child welfare agency that delivered family preservation services under three different purchase-of-service (POS) contracts. The research specifically focuses on how certain POS contract provisions and reimbursement rates influence the delivery of family preservation services. The three contacts examined differed on criteria, such as reimbursement mechanism, service volume, definition of clientele, and reimbursement rate. The study found that as reimbursement rates decline and as administrative costs increase, the service provider struggled with cash flow, staffing, fundraising, and service provision, among other things. It is concluded that contract-related resources, policies, and procedures impact provider agencies in multiple, significant ways that are critical to the provision of services and the accomplishment of positive client outcomes.

Perceptions of Family Preservation Practitioners: A Preliminary Study

This exploratory, qualitative study examined practitioners' perceptions about family preservation practice. Findings reveal a wide range of identified strengths as well as the limitations of such a model. Interestingly, the most frequently identified strengths were value based rather than practice based in perspective whereas limitations were practice based. Keeping families together was the most common perceived strength but concern about children's safety by keeping the family intact was a frequently reported limitation. Further, lack of support and a lack of theoretical clarity were identified as considerable limitations. Implications suggest these practitioners (mostly child welfare/mental health workers) believe in the approach for the sake of keeping families together but are concerned with endangering the child in the process and recognize the need for theoretical guidance.

Preserving Family: Themes from a Qualitative Study of Kin Caregivers

This article presents themes from a qualitative study of 58 African American female kinship caregivers in San Francisco. Core concepts that emerged describe various paths along which children move into kin homes, and caregivers' mixed emotional reactions to becoming surrogate parents. Women also discussed multiple family roles they assumed after taking in children. Responses highlight three primary reasons for becoming caregivers that center on providing for and protecting these children—particularly from the perceived threat of the public foster care system—and ultimately preserving the family unit. Paradoxically, caregivers' reasons mirror the stated goals of the public foster care system, which they view as a threat to family stability. We discuss the problems of implementing practice and policy recommendations for permanency and family preservation and how to bridge the gap between the deeply held negative beliefs of African American caregivers towards the public system and begin to build trust.