RESUMO
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.
Assuntos
Transtornos Globais do Desenvolvimento Infantil/psicologia , Relações Interpessoais , Participação Social , Criança , Transtornos Globais do Desenvolvimento Infantil/reabilitação , Pré-Escolar , Feminino , Humanos , Masculino , Grupo Associado , Instituições AcadêmicasRESUMO
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.
Assuntos
Classificação Internacional de Funcionalidade, Incapacidade e Saúde/normasRESUMO
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.
Assuntos
Cuidadores/psicologia , Paralisia Cerebral/psicologia , Comunicação , Crianças com Deficiência/psicologia , Comportamento Alimentar/psicologia , Fala , Atividades Cotidianas/psicologia , Adulto , Criança , Feminino , Humanos , Comunicação não Verbal/psicologiaRESUMO
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.
Assuntos
Auxiliares de Comunicação para Pessoas com Deficiência , Avaliação da Deficiência , Pessoas com Deficiência , Classificação Internacional de Doenças , Adolescente , Criança , Meio Ambiente , Feminino , Humanos , Classificação Internacional de Doenças/normas , MasculinoRESUMO
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.
Assuntos
Atividades Cotidianas/classificação , Avaliação da Deficiência , Crianças com Deficiência/classificação , Relações Interpessoais , Adolescente , Fatores Etários , Criança , Proteção da Criança , Pré-Escolar , Crianças com Deficiência/reabilitação , Feminino , Humanos , Classificação Internacional de Doenças , Masculino , Qualidade de Vida , Fatores Sexuais , Perfil de Impacto da Doença , Participação SocialRESUMO
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.
Assuntos
Avaliação da Deficiência , Crianças com Deficiência/classificação , Adolescente , Criança , Formação de Conceito , Crianças com Deficiência/reabilitação , Documentação , Humanos , Classificação Internacional de DoençasRESUMO
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.
Assuntos
Crianças com Deficiência/classificação , Crianças com Deficiência/reabilitação , Adolescente , Criança , Pré-Escolar , Avaliação da Deficiência , Estudos de Viabilidade , Humanos , Modelos TeóricosRESUMO
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.
Assuntos
Avaliação da Deficiência , Pessoas com Deficiência , Política de Saúde , Criança , Pré-Escolar , Estudos de Coortes , Educação , Europa (Continente) , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Política Pública , Pesquisa , Meios de TransporteRESUMO
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.
Assuntos
Crianças com Deficiência/classificação , Classificação Internacional de Doenças , Adolescente , Adulto , Atitude do Pessoal de Saúde , Criança , Difusão de Inovações , Avaliação da Deficiência , Crianças com Deficiência/reabilitação , Feminino , Objetivos , Humanos , Lactente , Capacitação em Serviço , Masculino , Pessoa de Meia-Idade , Equipe de Assistência ao Paciente , Centros de Reabilitação/organização & administração , Inquéritos e Questionários , Recursos HumanosRESUMO
OBJECTIVE: To study the effects of in-service training on staff's self-reported knowledge, understanding use of the International Classification of Functioning, Disability and Health (ICF) and ICF Children and Youth version (ICF-CY). DESIGN: Quasi-experimental with a questionnaire prior to training and another one year after training. METHODS: Intervention was in-service training in using the ICF and ICF-CY. Subjects were 113 professionals working in habilitation services. Two subgroups were compared: (i) subjects who reported one year after the training that they had used the ICF and ICF-CY in daily practice; and (ii) subjects who had not used these frameworks. RESULTS: The gender, age, and years of work experience of the members in the subgroups were similar. The professionals who used what they learnt from the training, and who already had knowledge about and a positive attitude to the ICF/ICF-CY prior to the training, were found to benefit most from the training. They also increased their ability to apply it to statements about everyday work. These professionals should focus on increasing their understanding and use of the ICF/ICF-CY in their everyday work and in assessment, while those who have limited prior knowledge of the ICF/ICF-CY should focus on gaining knowledge and understanding the purpose, terms and components of the framework. CONCLUSION: It is recommended that in-service training in using the ICF and ICF-CY is tailored to different groups of professionals depending on their degree of knowledge of the ICF/ICF-CY.
Assuntos
Avaliação da Deficiência , Pessoas com Deficiência/classificação , Capacitação em Serviço , Desenvolvimento de Pessoal , Atividades Cotidianas/classificação , Adolescente , Adulto , Criança , Crianças com Deficiência/classificação , Crianças com Deficiência/reabilitação , Pessoas com Deficiência/reabilitação , Feminino , Humanos , Classificação Internacional de Doenças , Conhecimento , Masculino , Pessoa de Meia-Idade , Autoimagem , Inquéritos e Questionários , Adulto JovemRESUMO
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.
Assuntos
Deficiências do Desenvolvimento/classificação , Deficiências do Desenvolvimento/reabilitação , Avaliação da Deficiência , Crianças com Deficiência/classificação , Crianças com Deficiência/reabilitação , Inquéritos e Questionários/classificação , Adolescente , Análise de Variância , Criança , Pré-Escolar , Estudos de Viabilidade , Feminino , Humanos , Classificação Internacional de Doenças , Masculino , Probabilidade , Fatores de Risco , Sensibilidade e Especificidade , SuéciaRESUMO
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.
Assuntos
Transtornos da Comunicação/terapia , Deficiências do Desenvolvimento/terapia , Prática Clínica Baseada em Evidências , Saúde da Família , Relações Profissional-Família , Criança , Auxiliares de Comunicação para Pessoas com Deficiência , Transtornos da Comunicação/reabilitação , Deficiências do Desenvolvimento/reabilitação , Crianças com Deficiência , HumanosRESUMO
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.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Predisposição Genética para Doença , Esclerose Múltipla/genética , Polimorfismo Genético/genética , Regiões Promotoras Genéticas/genética , Adolescente , Adulto , Criança , Intervalos de Confiança , Repetições de Dinucleotídeos/genética , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/epidemiologia , Razão de Chances , Países Escandinavos e Nórdicos/epidemiologiaRESUMO
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.
Assuntos
Dendrímeros/química , Metais/química , Fotoquímica/métodos , Elementos de Transição/química , Físico-Química/métodos , Transferência de Energia , Cinética , Luz , Modelos Estatísticos , Conformação Molecular , Estrutura Molecular , Espectrofotometria/métodos , Raios UltravioletaRESUMO
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.
Assuntos
Auxiliares de Comunicação para Pessoas com Deficiência , Transtornos da Comunicação/classificação , Avaliação da Deficiência , Classificação Internacional de Doenças , Organização Mundial da Saúde , Transtornos da Comunicação/reabilitação , Pessoas com Deficiência , Indicadores Básicos de Saúde , HumanosRESUMO
We report on a study of singlet-singlet annihilation kinetics in a series of Zn(II)-porphyrin-appended dendrimers, where the energy transfer efficiency is significantly improved by extending the molecular chain that connects the light-harvesting chromophores to the dendrimeric backbone with one additional carbon. For the largest dendrimer having 64 Zn(II)-porphyrins, only approximately 10% of the excitation intensity is needed in order to observe the same extent of annihilation in the dendrimers with the additional carbon in the connecting chain as compared to those without. Complete annihilation, until only one chromophore remains excited, now occurs within subunits of seven chromophores, when half of the chromophores are excited. The improvement of the annihilation efficiency in the largest dendrimer with 64 porphyrins can be explained by the presence of a the two-step delayed annihilation process, involving energy hopping from excited to nonexcited chromophores prior to annihilation. In the smallest dendrimer with only four chromophores, delayed annihilation is not present, since the direct annihilation process is more efficient than the two-step delayed annihilation process. As the dendrimer size increases and the chances of originally exciting two neighboring chromophores decreases, the delayed annihilation process becomes more visible. The additional carbon, added to the connecting chain, results in more favorable chromophore distances and orientations for energy hopping. Hence, the improved energy transfer properties makes the Zn(II)-porphyrin-appended dendrimers with the additional carbon promising candidates as light-harvesting antennas for artificial photosynthesis.
Assuntos
Materiais Biomiméticos/síntese química , Dendrímeros/síntese química , Transferência de Energia , Metaloporfirinas/síntese química , Porfirinas/química , Zinco/química , Carbono/química , Cátions Bivalentes , Cinética , Modelos Moleculares , Estrutura Molecular , Fótons , Fotossíntese , Espectrometria de FluorescênciaRESUMO
A recent high-density linkage screen confirmed that the HLA complex contains the strongest genetic factor for the risk of multiple sclerosis (MS). In parallel, a linkage disequilibrium analysis using 650 single nucleotide polymorphisms (SNP) markers of the HLA complex mapped the entire genetic effect to the HLA-DR-DQ subregion, reflected by the well-established risk haplotype HLA-DRB1*15,DQB1*06. Contrary to this, in a cohort of 1,084 MS patients and 1,347 controls, we show that the HLA-A gene confers an HLA-DRB1 independent influence on the risk of MS (P = 8.4x10(-10)). This supports the opposing view, that genes in the HLA class I region indeed exert an additional influence on the risk of MS, and confirms that the class I allele HLA-A*02 is negatively associated with the risk of MS (OR = 0.63, P = 7x10(-12)) not explained by linkage disequilibrium with class II. The combination of HLA-A and HLA-DRB1 alleles, as represented by HLA-A*02 and HLA-DRB1*15, was found to influence the risk of MS 23-fold. These findings imply complex autoimmune mechanisms involving both the regulatory and the effector arms of the immune system in the triggering of MS.
Assuntos
Antígenos HLA-A/imunologia , Antígenos HLA-DR/imunologia , Esclerose Múltipla/genética , Esclerose Múltipla/imunologia , Primers do DNA/genética , Frequência do Gene , Ligação Genética , Predisposição Genética para Doença , Antígenos HLA-A/genética , Antígenos HLA-DQ/genética , Antígenos HLA-DR/genética , Cadeias HLA-DRB1 , Humanos , Desequilíbrio de Ligação , Pessoa de Meia-Idade , Esclerose Múltipla/epidemiologia , Polimorfismo de Nucleotídeo Único , Valores de Referência , Análise de Regressão , Fatores de Risco , SuéciaRESUMO
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.
Assuntos
Pesquisa Biomédica/métodos , Auxiliares de Comunicação para Pessoas com Deficiência , Classificação Internacional de Doenças , Organização Mundial da Saúde , Adulto , Criança , Transtornos da Comunicação/terapia , Meio Ambiente , Humanos , Modelos TeóricosRESUMO
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.
Assuntos
Proteínas de Ligação ao Cálcio/genética , Predisposição Genética para Doença , Testes Genéticos , Peptídeos e Proteínas de Sinalização Intercelular/genética , Desequilíbrio de Ligação/genética , Proteínas de Membrana/genética , Esclerose Múltipla/genética , Transativadores/genética , Europa (Continente)/epidemiologia , Feminino , Genótipo , Humanos , Proteína Jagged-1 , Masculino , Repetições de Microssatélites , Esclerose Múltipla/epidemiologia , Proteínas Serrate-JaggedRESUMO
To provide a definitive linkage map for multiple sclerosis, we have genotyped the Illumina BeadArray linkage mapping panel (version 4) in a data set of 730 multiplex families of Northern European descent. After the application of stringent quality thresholds, data from 4,506 markers in 2,692 individuals were included in the analysis. Multipoint nonparametric linkage analysis revealed highly significant linkage in the major histocompatibility complex (MHC) on chromosome 6p21 (maximum LOD score [MLS] 11.66) and suggestive linkage on chromosomes 17q23 (MLS 2.45) and 5q33 (MLS 2.18). This set of markers achieved a mean information extraction of 79.3% across the genome, with a Mendelian inconsistency rate of only 0.002%. Stratification based on carriage of the multiple sclerosis-associated DRB1*1501 allele failed to identify any other region of linkage with genomewide significance. However, ordered-subset analysis suggested that there may be an additional locus on chromosome 19p13 that acts independent of the main MHC locus. These data illustrate the substantial increase in power that can be achieved with use of the latest tools emerging from the Human Genome Project and indicate that future attempts to systematically identify susceptibility genes for multiple sclerosis will have to involve large sample sizes and an association-based methodology.