Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5

OBJECTIVE: To report the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD). METHODS: Clinical investigation was made of available family members, including historical and chart reviews. Subject examinations were video recorded. Genetic analysis included a genome-wide linkage study with microsatellite markers (STR), GTP cyclohydrolase I (GCH1) gene sequencing, and dosage analysis. RESULTS: We evaluated 32 individuals, of whom 6 were clinically diagnosed with DRD, with childhood-onset progressive foot dystonia, later generalizing, followed by parkinsonism in the two older patients. The response to levodopa was very good. Two additional patients had late onset dopa-responsive parkinsonism. Three other subjects had DRD symptoms on historical grounds. We found suggestive linkage to the previously reported DYT14 locus, which excluded GCH1. However, further study with more stringent criteria for disease status attribution showed linkage to a larger region, which included GCH1. No mutation was found in GCH1 by gene sequencing but dosage methods identified a novel heterozygous deletion of exons 3 to 6 of GCH1. The mutation was found in seven subjects. One of the patients with dystonia represented a phenocopy. CONCLUSIONS: This study rules out the previously reported DYT14 locus as a cause of disease, as a novel multiexonic deletion was identified in GCH1. This work highlights the necessity of an accurate clinical diagnosis in linkage studies as well as the need for appropriate allele frequencies, penetrance, and phenocopy estimates. Comprehensive sequencing and dosage analysis of known genes is recommended prior to genome-wide linkage analysis.

Quality Management and Formalization in Social Service Organizations - A Survey on Home-Based Family Intervention Services

Although the effects of quality management on social work are still widely unexplored, critics suspect that it will lead to a negative standardization of working conditions, whereas supporters of quality management hope for a greater transparency and effectiveness of service delivery. This article reports on a survey of 30 managers, 261 professionals, and 435 families in 30 family intervention service organizations. It uses cluster analysis to explore the relationship between quality management and different forms of work formalization. Results showed that working conditions generally are enabling for professional practice, but differences exist between what is called here a managerialist machine bureaucracy, an atomistic professional organization, and a collegiate professional organization.

Professional development of social work in Russia

The aim of the paper was to get an understanding about how the profession of social work explains its relevance and legitimacy in today's Russia, to enlighten the importance of socio-political, professional and educational contexts in explaining the societal position of the social work profession in Russia. This paper begins with the analysis of the processes of legitimization, professionalization and constitution of social work in today's Russia. In addition to functionalist and critical perspectives on these three processes, in its second part the paper employs phenomenological approach looking into everyday life theory of social work that is constructed in routine work at the social service agencies. The third part of this paper talks about the issues of social services and social work with family and children in contemporary Russia.

Care for Children in Botswana: The Social Work Role

The world over is experiencing an increase in the numbers of children who need care. The existence of children in need of care is not peculiar to contemporary Botswana society, it also prevailed in traditional Tswana society. What has changed is the volume of children who need care, and the resources available for their care. Like other African countries, Botswana is going through a process of rapid social, economic and cultural change. One of the characteristics of this change is the disintegration of the extended family. Consequently, the extended family can no longer cope with both the quality and quantity of care that children in need of care require (Botswana Human Development Report/BHDR 2000).

All in the family: atypical Hsp70 chaperones are conserved modulators of Hsp70 activity.

Divergent relatives of the Hsp70 protein chaperone such as the Hsp110 and Grp170 families have been recognized for some time, yet their biochemical roles remained elusive. Recent work has revealed that these "atypical" Hsp70s exist in stable complexes with classic Hsp70s where they exert a powerful nucleotide-exchange activity that synergizes with Hsp40/DnaJ-type cochaperones to dramatically accelerate Hsp70 nucleotide cycling. This represents a novel evolutionary transition from an independent protein-folding chaperone to what appears to be a dedicated cochaperone. Contributions of the atypical Hsp70s to established cellular roles for Hsp70 now must be deciphered.

Parenting Pioneers and Parenting Teams: Strengthening Extended Family Ties in Family Support

Starting with the premise that extended family members often have great influence on family functioning, this article describes social work practice techniques for helping families utilize resources available in the extended family network. Two key concepts are presented: "parenting pioneers," who, while attempting newly learned parenting skills, may struggle with resistance from extended family members; and "parenting teams," in which the focal family is giving to or receiving from extended family members substantial family support. The article presents these practice techniques in the context of family support services, which are characterized as voluntary, preventive, developmental, and based in the concept of empowerment and the ecological perspective.

The Family Preservation Philosophy and Therapy With Lesbian Clients

Family preservation is generally viewed in terms of a rather narrow practice definition. However, it's underlying philosophy offers a strong framework for building a positive, nonbiased helping alliance with lesbian clients in a therapeutic setting. The family preservation philosophy offers a unique heuristic for helping professionals to work with lesbians. Family preservation values teach that the therapist must start with the client's reality, recognize the particular needs of that client, and use the client's strengths in treatment. Also inherent in this perspective is respect and sensitivity to the lesbian client's "cultural context, experience, and history" (Family Preservation Institute, 1995). In other words, in the family preservation philosophy there is no assumption of heterosexuality in the therapeutic relationship; rather there is an assumption of unconditional positive regard. Further, clients are engaged in a dialogue and encouraged to name the challenges they encounter in their own words, from their own perspective. All of these principles will help empower lesbian clients. Lesbians may avoid traditional mental health services in times of need, preferring to depend on alternative services or friendship support networks. The choice not to seek help through mainstream agencies may be based on previous negative experience or on an assumption of the homophobic attitudes which are often inherent in such services. Traditional services are usually based on the medical model. Services based on the family preservation philosophy, however, have the capability of creating therapeutic relationships in which there is no assumption of heterosexuality, where the lesbian client is respected and viewed as a whole, healthy individual.

Toward the Development of Ethical Guidelines for Family Preservation

Family preservation workers need a standard set of ethical guidelines to assist them in providing their service in a proper manner. This paper describes how ethical codes have been developed for the "traditional" mental health care disciplines and why such codes are not sufficient for the type of work done in family preservation. The paper further provides examples of the types of ethical dilemmas family preservation workers encounter as well as suggestions for workers, supervisors, and agencies in dealing with such dilemmas.

Evaluating Family Preservation in Nevada: A University-State Agency Collaboration

In this paper, concepts from the emerging family-centered paradigm in child welfare and mental health are applied to evaluative research in family preservation: the ecological perspective, enhancement of competence, a consumer orientation, and collaborative relationships. The experience of family preservation research collaborators from the School of Social Work at the University of Nevada, Reno and the Nevada Division of Child and Family Services illustrate these concepts. The researchers apply the theory of isomorphism to the research endeavor to produce eight principles of effective research partnerships derived from family-centered concepts and their own experiences.

Editorial: The Demands of Protection, Preservation,and Permanency: Where Has Family Preservation Gone?

This Journal issue provides three important articles that will aid us in explaining what we do in service to families. We are very pleased to have the opportunity to print a major address delivered by William Meezan on "Translating Rhetoric to Reality: The Future of Family and Children's Services." The challenges of serving families under an evolution of models in Kansas is presented in "Family Preservation Services Under Managed Care: Current Practices and Future Directions" by Melanie Pheatt, Becky Douglas, Lori Wilson, Jody Brook, and Marianne Berry. What people doing the work think is addressed by the piece titled, "Perceptions of Family Preservation Practitioners: A Preliminary Study" by Judith Hilbert, Alvin L. Sallee, and James K. Ott. Finally, this issue presents a number of very interesting reviews of new resources.

Translating Rhetoric to Reality: The Future of Family and Children's Services

These remarks were first prepared by the author for the inauguration of the Marion Elizabeth Blue Endowed Professorship in Children and Families at the University of Michigan School of Social Work. They were delivered on October 5, 1999, and originally appeared as a monograph published by the University of Michigan School of Social Work in December 1999. They are reprinted here by permission.

What is Family Preservation and Why Does it Matter?

This paper describes competing ideas about family preservation, defined both as a defined program of social services and a philosophical approach to helping troubled families. A straightforward definition has become almost impossible because the phrase has taken on so many different meanings, provoking controversy about its "real" meaning and value. Indeed, "family preservation" has become the proverbial elephant whose splendors and horrors are described with great certainty by those impressed by only one of its aspects. While skirmishes between "child savers" and "family preservers" have been part of the child welfare field since its beginning at the turn of the last century, recent debates over family preservation have been especially heated, generating more confusion and animosity than might be expected from the ranks of the small and usually mild-mannered social work profession. The debate is so heated that the director of one of the nation's largest child welfare agencies said recently that he is afraid to "even use the two words on the same page." <1> While the debate about the value of family preservation is unresolved, experimentation with different approaches to service delivery over the last two decades has helped to lay the groundwork for a resurgence of interest in family and community-centered reforms. Better understanding of the family preservation "debates" may be helpful if these reforms are to be successful over the long term. The paper discusses the competing ideas, values, and perceptions that have led observers to their different understandings of family preservation. It briefly chronicles the history of child welfare and examines key theories that have helped lay the groundwork for the resurgence of interest in family-centered services. It concludes with observations about how the competing values at stake in family preservation may affect the next generation of reforms.

Individual, Family, and Neighborhood Characteristics and Children's Food Insecurity

A growing body of work documents the influence of neighborhood environments on child health and well-being. Food insecurity is likely linked to neighborhood characteristics via mechanisms of social disadvantage, including access to and availability of healthy foods and the social cohesion of neighbors. In this paper, we utilize restricted, geo-coded data from the Early Childhood Longitudinal Study, which allows us to link individual children with their neighborhood's census characteristics, to assess how the neighborhoods of food secure and food insecure children differ at both the kindergarten level and in third grade. The average food insecure child lives in a neighborhood with a higher proportion of black and Hispanic residents, a higher proportion of residents living in poverty, and a higher proportion of foreign-born and linguistically isolated residents. After accounting for individual and household-level characteristics, children living in neighborhoods with a high proportion of Hispanic and foreign-born residents have a significantly increased risk of food insecurity compared to children living in neighborhoods which are predominantly white and have high socioeconomic status. We argue that interventions which take neighborhood context into account may be most efficacious for curbing child food insecurity.

The Family Pasteurellaceae

This chapter describes the systematics and evolution of Pasteurellaceae with emphasis on new information generated since the 3rd edition of The Prokaryotes which only included chapters dealing with Haemophilus, Actinobacillus, and Pasteurella. A major source of new information for the current chapter has been provided by whole genome sequences now available for many taxa of the family. Some 100 species and species-like taxa have been documented and 18 genera of Pasteurellaceae reported so far. Members of the family include specialized commensals, potential pathogens, or pathogens of vertebrates and mainly survive poorly in other habitats including the external environment. The pathogenic members are of major importance to animal production and human health. Members of Pasteurellaceae have relatively small genomes, probably as a result of adaption to a special habitat. The most important species in veterinary microbiology include Pasteurella multocida, Actinobacillus pleuropneumoniae, [Haemophilus] parasuis, Mannheimia haemolytica, Bibersteinia trehalosi, and Avibacterium paragallinarum, while Haemophilus influenzae and Aggregatibacter actinomycetemcomitans represent the most important species as to human disease. Traditional isolation techniques are still used in both human and veterinary clinical diagnostic laboratories although genetically based diagnostic methods have replaced traditional biochemical/physiological methods for characterization and identification. For all species, MALDI-TOF can now be used as a diagnostic tool. As control and if MALDI-TOF equipment is not at hand, PCR-based specific detection is possible for Pasteurella multocida, Actinobacillus pleuropneumoniae, [Haemophilus] parasuis, Mannheimia haemolytica, Avibacterium paragallinarum, Gallibacterium anatis, Haemophilus influenzae, and Aggregatibacter actinomycetemcomitans. A lot of work has been directed towards identification of virulence factors and understanding host microbe interactions involved in disease.