MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction.

Antigen presentation to T cells by MHC molecules is essential for adaptive immune responses. To determine the exact position of a gene affecting expression of MHC molecules, we finely mapped a previously defined rat quantitative trait locus regulating MHC class II on microglia in an advanced intercross line. We identified a small interval including the gene MHC class II transactivator (Mhc2ta) and, using a map over six inbred strains combined with gene sequencing and expression analysis, two conserved Mhc2ta haplotypes segregating with MHC class II levels. In humans, a -168A --> G polymorphism in the type III promoter of the MHC class II transactivator (MHC2TA) was associated with increased susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction, as well as lower expression of MHC2TA after stimulation of leukocytes with interferon-gamma. We conclude that polymorphisms in Mhc2ta and MHC2TA result in differential MHC molecule expression and are associated with susceptibility to common complex diseases with inflammatory components.

Patterns of communicative interaction between a child with severe speech and physical impairments and her caregiver during a mealtime activity.

BACKGROUND: Interaction between caregivers and children with severe impairments is closely related to the demands of daily activities. This study examines the relationship between interaction and the routine mealtime activity at home. METHOD: Patterns of interaction between a child (aged 6 years and 6 months) with severe speech and physical impairments and her caregiver (focus dyad) and a child without impairments (aged 6 years and 6 months) and her caregiver (comparison dyad) were analysed using video recordings and activity-based communication analysis. RESULTS: The focus dyad's interaction was unaided. The dyad did not use the Blissymbol board but communicated using words, vocalisations, word approximations, and body communication. Interaction in the focus dyad included relatively few pauses and frequent interchanges of short and sometimes simultaneous communicative contributions. Strong relations between patterns of interaction and immediate activity management goals such as assisting with eating, eating and drinking were found and compared for the two dyads. Results were discussed with regard to child development and communication intervention. CONCLUSIONS: The focus dyad showed interactive efficiency and the fulfilment of goals relating to basic understanding and closeness, but mainly with regard to immediate mealtime issues. The comparison child and caregiver were more independent in the activity which made it possible for them to reach more extensive, and from a child perspective, age-adequate goals than the focus dyad.

Communication, disability, and the ICF-CY.

The child's interactions with persons in the proximal environment constitute the context for development of communication. Within early close relationships, the child acquires communication skills; developmental outcomes are defined by the continuous dynamic interactions of the child, the experiences provided by the family and close environment, and the use of different means of augmentative and alternative communication (AAC). Communication problems manifest in a variety of ways and at different levels of severity. The nature of problems differs as a function of the child's age and diagnosed condition, the communication skills of interaction partners, and the availability of communication aids. The focus for assessment and intervention may be the child, the family, the close environment and/or the interactions between them. Clarifying these varied functions and environmental factors is crucial for appropriate assessment and provision of augmentative and alternative communication (AAC) interventions. This paper reviews issues in assessment and intervention for children in need of AAC and presents the World Health Organizations' (WHO) International Classification of Functioning, Disability and Health version for Children and Youth (ICF-CY) as a tool to enhance assessment and intervention in the AAC field.

Beyond diagnosis: the relevance of social interactions for participation in inclusive preschool settings.

Purpose: This study aims to explore the role of three specific factors within the child-environment interaction process - engagement, independence and social interactions - in influencing development and learning of children with disabilities in inclusive preschool settings. The main question is whether children can be categorised in homogenous groups based on engagement, independence and social interactions (proximal variables within a biopsychosocial framework of human development). The study also examined whether children with the same diagnosis would group together or separately, when trying to identify clusters of engagement, independence and social interactions, and additionally whether such clusters vary as a function of individual child characteristics, and/or as a function of structural and process characteristics of preschool environment. Methods: Data was taken from an intervention study conducted in mainstream preschools in Portugal. A person-centered cluster analysis was conducted to explore group membership of children with various diagnoses, based on their engagement, independence and social interaction profiles. Results: Results show that children clustered based on similarity of engagement, independence and social interaction patterns, rather than on diagnosis. Besides, it was found that quality of peer interaction was the only predictor of cluster membership. Conclusion: These findings support the argument that participation profiles may be more informative for intervention purposes than diagnostic categories, and that preschool process quality, namely peer interaction, is crucial for children's participation.

The SH2D2A gene and susceptibility to multiple sclerosis.

We previously reported an association between the SH2D2A gene encoding TSAd and multiple sclerosis (MS). Here a total of 2128 Nordic MS patients and 2004 controls were genotyped for the SH2D2A promoter GA repeat polymorphism and rs926103 encoding a serine to asparagine substitution at amino acid position 52 in TSAd. The GA(16)-rs926103()A haplotype was associated with MS in Norwegians (OR 1.4, P=0.04). A similar trend was observed among Danes. In the independent Norwegian, Danish and Swedish sample sets the GA(16) allele showed a combined OR of 1.13, P=0.05. Thus, the present study shows that the SH2D2A gene may contribute to susceptibility to MS.

AAC interventions for children in a family environment: implementing evidence in practice.

Interventions that focus on implementing augmentative and alternative communication (AAC) strategies and methods have been available to children in need of AAC and their families for at least 30 years. To date, most of the research that has considered AAC in family settings has been focused on gathering evidence of the effects of AAC interventions, rather than on implementing evidence-based strategies in everyday practice to improve outcomes. The purpose of this article is to discuss the research that has focused on parents as AAC interventionists, the family as a context for AAC intervention, and the effects of AAC interventions on children and other family members. The discussion is framed within the four steps associated with the process of knowledge translation: (a) deciding on desired outcomes of interventions, (b) evaluating evidence of the effectiveness of different AAC methods to obtain the desired outcomes, (c) translating the research evidence into everyday practice, and (d) implementing knowledge in practice.

Extending the light-harvesting properties of transition-metal dendrimers.

We report a study of the electronic energy-transfer dynamics within the transition-metal polypyridine complex OsRu3pyr6 (Os[(dpp)Ru(bpy{pyrene})2]3(8+), where dpp=2,3-bis(2'-pyridyl)pyrazine and bpy=2,2'-bipyridine) after excitation with UV light. By using a broadband visible femtosecond probe, we are able to simultaneously detect both the energy transfer from the peripheral aromatic ligands to the Os center and the sub-picosecond energy transfer from the initially excited Ru-bpy ligand-centered state to the Os triplet metal-to-ligand charge-transfer (MLCT) state. Pyrene energy transfer occurs from both the nonrelaxed and the relaxed S(1) states on timescales of 6 and 45 ps, respectively. In both cases, the energy transfer is described by means of Förster energy transfer theory. Sub-picosecond energy transfer within the OsRu3 metal-ligand core most likely includes a direct energy transfer between the higher-lying ligand-centered states on Ru and Os, in addition to the transfer between the MLCT states. The absorption cross-sections in both the UV and the visible spectral regions are enhanced by attaching the aromatic pyrene ligands. Furthermore, energy transfer is directed only towards the Os core, which ultimately leads to an exclusive population of the Os-based triplet MLCT state, thus making the OsRu3pyr6 transition metal-polypyridine dendrimer an obvious candidate for artificial light-harvesting systems.

The World Health Organization's International Classification of Functioning, Disability and Health: implications for clinical and research practice in the field of augmentative and alternative communication.

In 2001, the World Health Organization (WHO) ratified and published a new classification system, the International Classification of Functioning, Disability and Health (ICF). There has been a varying amount of discussion and debate across the health and disability fields about what the ICF means and what it has to offer. However, there has been little discussion of its use and value in the field of augmentative and alternative communication (AAC). This article describes the earlier International Classification of Impairments, Disabilities, and Handicaps (ICIDH), upon which the current ICF was based; and outlines the ICF and the preliminary, derived Child and Youth version of the ICF (ICF-CY). The article also proposes what the ICF has to offer the AAC field, from both a clinical and research perspective; and concludes with a discussion of the advantages and challenges of using the ICF.

The World Health Organization's International Classification of Functioning, Disability and Health: implications for clinical and research practice in the field of augmentative and alternative communication.

In 2001, the World Health Organization (WHO) ratified and published a new classification system, the International Classification of Functioning, Disability and Health (ICF). There has been a varying amount of discussion and debate across the health and disability fields about what the ICF means and what it has to offer. However, there has been little discussion of its use and value in the field of augmentative and alternative communication (AAC). This article describes the earlier International Classification of Impairments, Disabilities, and Handicaps (ICIDH), upon which the current ICF was based; and outlines the ICF and the preliminary, derived Child and Youth version of the ICF (ICF-CY). The article also proposes what the ICF has to offer the AAC field, from both a clinical and research perspective; and concludes with a discussion of the advantages and challenges of using the ICF.

Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans.

By combining all the data available from the Genetic Analysis of Multiple sclerosis in EuropeanS (GAMES) project, we have been able to identify 17 microsatellite markers showing consistent evidence for apparent association. As might be expected five of these markers map within the Major Histocompatibility Complex (MHC) and are in LD with HLA-DRB1. Individual genotyping of the 12 non-MHC markers confirmed association for three of them--D11S1986, D19S552 and D20S894. Association mapping across the candidate genes implicated by these markers in 937 UK trio families revealed modestly associated haplotypes in JAG1 (p=0.019) on chromosome 20p12.2 and POU2AF1 (p=0.003) on chromosome 11q23.1.

Refining the linkage analysis on chromosome 10 in 449 sib-pairs with multiple sclerosis.

Genome-wide screens for linkage in multiplex families with multiple sclerosis (MS) from United Kingdom, Sardinia, Italy and the Nordic countries (Denmark, Finland, Norway and Sweden) have each shown suggestive or potential linkage on chromosome 10. The partially overlapping regions identified by these studies encompass around 60 cM of the chromosome. In order to explore this region further, we typed 13 microsatellite markers in the same 449 families originally studied in the individual screens. This additional genotyping increased the information extraction in the region from 52% to 79% and revealed increased support for linkage (MLS 2.5) peaking at 10p15.

Two genome-wide linkage disequilibrium screens in Scandinavian multiple sclerosis patients.

We report the first two genome-wide screens for linkage disequilibrium between putative multiple sclerosis (MS) susceptibility genes and genetic markers performed in the genetically homogenous Scandinavian population, using 6000 microsatellite markers and DNA pools of approximately 200 MS cases and 200 controls in each screen. Usable data were achieved from the same 3331 markers in both screens. Nine markers from eight genomic regions (1p33, 3q13, 6p21, 6q14, 7p22, 9p21, 9q21 and Xq22) were identified as potentially associated with MS in both screens.

ICF and ICF-CY lessons learned: Pandora's box of personal factors.

PURPOSE: The aim of this article is to examine the component of "personal factors" described as a contextual factor in the ICF and ICF-CY. METHODS: A critical examination of the construct of "personal factors" and description of the component was made with reference to conceptual and taxonomic criteria. RESULTS: The "personal factors" component in the ICF/ICF-CY is not defined, there is no taxonomy of codes, there is no explicit purpose stated for its use and no guidelines are provided for its application. In spite of these constraints, the component of "personal factors" is being applied as part of the classifications. Such uncontrolled applications constitute significant risks for the status of ICF/ICF-CY as the WHO reference classification in that: (a) the component is accepted for use by default simply by being applied; (b) component content is expanded with idiosyncratic exemplars by users; and (c) there is potential misuse of "personal factors" in documenting personal attributes, including "blaming the victim". CONCLUSION: In the absence of formal codes, any application of the component of "personal factors" lacks the legitimacy that documentation with a scientific taxonomy should provide. Given the growing use of the ICF/ICF-CY globally, a priority for the revision process should be to determine if there is in fact need for "personal" or any other factors in the ICF/ICF-CY. IMPLICATIONS FOR REHABILITATION: A central contribution of the ICF/ICF-CY is the universal language of codes for the components of body structure, body function, activities and participation and Environmental Factors. As such the codes provide taxonomical legitimacy and power for documenting dimensions of functioning and disability in clinical and rehabilitation contexts. As there are no codes of "personal factors", there is no basis for documentation of the component. Demographic information, if needed for identification, should be recorded in customary formats, independent of any component or codes of the ICF/ICF-CY.

Differentiating activity and participation of children and youth with disability in Sweden: a third qualifier in the International Classification of Functioning, Disability, and Health for Children and Youth?

OBJECTIVE: This article discusses the use of a third qualifier, subjective experience of involvement, as a supplement to the qualifiers of capacity and performance, to anchor activity and participation as separate endpoints on a continuum of actions. DESIGN: Empirical data from correlational studies were used for secondary analyses. The analyses were focused on the conceptual roots of the participation construct as indicated by the focus of policy documents, the support for a third qualifier as indicated by correlational data, differences between self-ratings and ratings by others in measuring subjective experience of involvement, and the empirical support for a split between activity and participation in different domains of the activity and participation component. RESULTS: Participation seems to have two conceptual roots, one sociologic and one psychologic. The correlational pattern between the qualifiers of capacity, performance, and subjective experience of involvement indicates a possible split between activity and participation. Self-ratings of participation provide information not obtained through ratings by others, and later domains in the activities and participation component fit better with measures of experienced involvement than earlier domains did. CONCLUSIONS: The results from secondary analyses provide preliminary support for the use of a third qualifier measuring subjective experience of involvement to facilitate the split between activity and participation in the International Classification of Functioning, Disability and Health, Children and Youth version, activity and participation domain.

Using content analysis to link texts on assessment and intervention to the International Classification of Functioning, Disability and Health - version for Children and Youth (ICF-CY).

OBJECTIVE: To explore how content analysis can be used together with linking rules to link texts on assessment and intervention to the International Classification of Functioning, Disability and Health - version for children and youth (ICF-CY). METHODS: Individual habilitation plans containing texts on assessment and intervention for children with disabilities and their families were linked to the ICF-CY using content ana-lysis. Texts were first divided into meaning units in order to extract meaningful concepts. Meaningful concepts that were difficult to link to ICF-CY codes were grouped, and coding schemes with critical attributes were developed. Meaningful concepts that could not be linked to the ICF-CY were assigned to the categories "not-definable" and "not-covered", using coding schemes with mutually exclusive categories. RESULTS: The size of the meaning units selected resulted in different numbers and contents of meaningful concepts. Coding schemes with critical attributes of ICF-CY codes facilitated the linking of meaningful concepts to the most appropriate ICF-CY codes. Coding schemes with mutually exclusive categories facilitated the classification of meaningful concepts that could or could not be linked to the ICF-CY. CONCLUSION: Content analysis techniques can be applied together with linking rules in order to link texts on assessment and intervention to the ICF-CY.

Exploring changes over time in habilitation professionals' perceptions and applications of the International Classification of Functioning, Disability and Health, version for Children and Youth (ICF-CY).

OBJECTIVE: This study explored how professionals in inter-disciplinary teams perceived the implementation of the World Health Organization's International Classification of Functioning, Disability and Health, version for Children and Youth (ICF-CY) in Swedish habilitation services. DESIGN: Descriptive longitudinal mixed-methods design. METHODS: Following participation in a 2-day in-service training on the ICF-CY, 113 professionals from 14 interdisciplinary teams described their perceptions of the implementation of the ICF-CY at 3 consecutive time-points: during in-service training, after 1 year, and after 2.5 years. RESULTS: Implementation of the ICF-CY in daily work focused on assessment and habilitation planning and required adaptations of routines and materials. The ICF-CY was perceived as useful in supporting analyses and in communication about children's needs. Professionals also perceived it as contributing to new perspectives on problems and a sharpened focus on participation. CONCLUSION: Professionals indicated that the ICF-CY enhanced their awareness of families' views of child participation, which corresponded to organizational goals for habilitation services. An implementation finding was a lack of tools fitting the comprehensive ICF-CY perspective. The study points to the need for ICF-CY-based assessment and intervention methods focusing on child participation.

The International Classification of Functioning, Disability and Health and the version for children and youth as a tool in child habilitation/early childhood intervention--feasibility and usefulness as a common language and frame of reference for practice.

Early childhood intervention and habilitation services for children with disabilities operate on an interdisciplinary basis. It requires a common language between professionals, and a shared framework for intervention goals and intervention implementation. The International Classification of Functioning, Disability and Health (ICF) and the version for children and youth (ICF-CY) may serve as this common framework and language. This overview of studies implemented by our research group is based on three research questions: Do the ICF-CY conceptual model have a valid content and is it logically coherent when investigated empirically? Is the ICF-CY classification useful for documenting child characteristics in services? What difficulties and benefits are related to using ICF-CY model as a basis for intervention when it is implemented in services? A series of studies, undertaken by the CHILD researchers are analysed. The analysis is based on data sets from published studies or master theses. Results and conclusion show that the ICF-CY has a useful content and is logically coherent on model level. Professionals find it useful for documenting children's body functions and activities. Guidelines for separating activity and participation are needed. ICF-CY is a complex classification, implementing it in services is a long-term project.

Integrating research into policy planning: MHADIE policy recommendations.

MHADIE project (Measuring Health and Disability in Europe: Supporting policy development) aimed at developing realistic, evidence-based and effective national policies for persons with disabilities. A preliminary step towards this goal was the demonstration on the feasibility of employing the ICF in clinical, educational and statistical fields, which corresponds to the recognised need to enhance the European Union's capacity of analysis of disability, as highlighted in its Disability Action Plan 2006-2007. The ultimate outcome of the project is the production of 13 policy recommendations, dealing with statistics clinical and educational areas, and four general policy recommendations focusing on: (a) the need of coordinating and integrating disability conceptualization at all policy levels and across sectors; (b) the need of conducting longitudinal cohort studies which include children aged 0-6; (c) the need of reviewing transportation policies in light of the requirements of persons with disabilities; (d) the need of reviewing all disability policies to emphasise and support the role of the family, which is a consistent and substantial environmental facilitator in the lives of persons with disabilities.

Field trial of ICF version for children and youth (ICF-CY) in Sweden: logical coherence, developmental issues and clinical use.

INTRODUCTION: For ICF-CY to be used in clinical practice several issues have to be resolved concerning the logical coherence in the model, developmental and functional issues as well as clinical feasibility. PURPOSE: The aim is to investigate feasibility of ICF-CY as expressed by ICF-CY questionnaires in assessment prior to intervention. METHODS: One hundred and thirty-nine professionals working with intervention for children with disabilities used ICF-CY questionnaires in assessment. The professionals rated and commented on the feasibility of ICF-CY and ICF-CY questionnaire. Logical coherence, developmental issues and clinical use were investigated. RESULTS: The logical coherence on component level was good (KMO = 0.126, p < 0.005). To investigate developmental and functional issues in the model children, four age groups were compared with the help of one-way ANOVA. Significant differences were found between children younger than 3 and children 3-6 and 7-12 in four chapters in the component Activities/Participation. Professionals consider that ICF-CY is feasible in intervention but experience difficulties when using the components and qualifiers in the ICF-CY and suggest changes. DISCUSSION: ICF-CY as expressed in ICF-CY questionnaires is a feasible tool in assessment and intervention. However, several issues can be developed and discussed to facilitate implementation of ICF-CY in clinical practice.