Plasma Dynamics

Contains reports on two research projects.WADC Contract AF33(616)-3984Servomechanisms Research Laborator

The genetic epidemiology of joint shape and the development of osteoarthritis

Congruent, low-friction relative movement between the articulating elements of a synovial joint is an essential pre-requisite for sustained, efficient, function. Where disorders of joint formation or maintenance exist, mechanical overloading and osteoarthritis (OA) follow. The heritable component of OA accounts for ~ 50% of susceptible risk. Although almost 100 genetic risk loci for OA have now been identified, and the epidemiological relationship between joint development, joint shape and osteoarthritis is well established, we still have only a limited understanding of the contribution that genetic variation makes to joint shape and how this modulates OA risk. In this article, a brief overview of synovial joint development and its genetic regulation is followed by a review of current knowledge on the genetic epidemiology of established joint shape disorders and common shape variation. A summary of current genetic epidemiology of OA is also given, together with current evidence on the genetic overlap between shape variation and OA. Finally, the established genetic risk loci for both joint shape and osteoarthritis are discussed

Weighting sequence variants based on their annotation increases power of whole-genome association studies.

To access publisher's full text version of this article click on the hyperlink at the bottom of the pageThe consensus approach to genome-wide association studies (GWAS) has been to assign equal prior probability of association to all sequence variants tested. However, some sequence variants, such as loss-of-function and missense variants, are more likely than others to affect protein function and are therefore more likely to be causative. Using data from whole-genome sequencing of 2,636 Icelanders and the association results for 96 quantitative and 123 binary phenotypes, we estimated the enrichment of association signals by sequence annotation. We propose a weighted Bonferroni adjustment that controls for the family-wise error rate (FWER), using as weights the enrichment of sequence annotations among association signals. We show that this weighted adjustment increases the power to detect association over the standard Bonferroni correction. We use the enrichment of associations by sequence annotation we have estimated in Iceland to derive significance thresholds for other populations with different numbers and combinations of sequence variants

Assessing communicative participation in preschool children with the Focus on the Outcomes of Communication Under Six: a scoping review

Aim: To describe uses of the Focus on the Outcomes of Communication Under Six (FOCUS) in research since its publication in 2010. Method: Six databases were searched for the term ‘Focus on the Outcomes of Communication Under Six’. With additional searches we ascertained 70 articles, of which 25 met inclusion criteria for full review and data extraction. Results: The FOCUS has been used in research across multiple countries, purposes, populations, contexts, and versions. Evaluative studies have described the development of children’s communicative participation skills and factors that impact development of communicative participation; the impact of specific interventions on communicative participation; how FOCUS captures change relative to measures of impairment; and how FOCUS performs when used at different intervals. Adaptations included use of the FOCUS as a descriptive or discriminative tool; use with children outside the validated age range; using select items; and use with typically developing children. Interpretation: FOCUS is used worldwide in research and practice, and much has been learned about children’s communicative participation. Future research is needed to explore the relationship between children’s impairments and their communicative participation, develop a FOCUS App, and develop and validate of a school-age FOCUS

Ice on banks of Snowy River, Snowy Mountains, New South Wales, 1935, [3] [transparency]/

Title devised by cataloguer from list.; "Ice on banks of Snowy R. 10."--In ink on slide label.; Condition: Fair.; Part of: Collection of glass lantern slides of the Snowy Mountains, 1935.; Also available in an electronic version via the Internet at: http://nla.gov.au/nla.pic-vn4236846

The German Focus on the Outcomes of Communication Under Six (FOCUS-G): Reliability and Validity of a Novel Assessment of Communicative Participation

Purpose: Our purpose was to explore the validity and reliability of the German Focus on the Outcomes of Communication Under Six (FOCUS-G; Thomas-Stonell, Oddson, Robertson, & Rosenbaum, 2010, 2012), which is an authorized adaptation of the Focus on the Outcomes of Communication Under Six (Thomas-Stonell et al., 2010) tool, which measures communicative participation in preschool children. Method: Parents of typically developing children (TDC) and of children with speech impairment (CSI) completed the FOCUS-G and the Questionnaire for Measuring Health-Related Quality of Life in Children (KiddyKINDL; Ravens-Sieberer & Bullinger, 2000). To determine test-retest reliability, the FOCUS-G was readministered to a subsample of parents 1 week later. Results: The FOCUS-G had high values for internal consistency (alpha =.959, Omega =.941), test-retest reliability (intraclass correlation coefficient =.974), and split-half reliability (r =.832). Total scores on the FOCUS-G and KiddyKINDL demonstrated significant associations. FOCUS-G total scores and subdomain scores for both samples showed significant correlations, indicating good construct validity. The discriminatory ability of the FOCUS-G was indicated by significantly higher mean scores for TDC (M = 6.03, SD = 0.65) than CSI (M = 5.47, SD = 1.02). Conclusion: The overall good psychometric properties of this novel assessment of communicative participation support its use by speech-language pathologists for clinical and research purposes with German-speaking children

Holistic Communication Assessment for Young Children With Cleft Palate Using the International Classification of Functioning, Disability and Health:Children and Youth

Purpose Children with a cleft palate (± cleft lip; CP±L) can have difficulties communicating and participating in daily life, yet speech-language pathologists typically focus on speech production during routine assessments. The International Classification of Functioning, Disability and Health: Children and Youth Version (ICF-CY; World Health Organization, 2007) provides a framework for holistic assessment. This tutorial describes holistic assessment of children with CP±L illustrated by data collected from a nonclinical sample of seven 2- to 3-year-old children, 13 parents, and 12 significant others (e.g., educators and grandparents). Method Data were collected during visits to participants' homes and early childhood education and care centers. Assessment tools applicable to domains of the ICF-CY were used to collect and analyze data. Child participants' Body Functions including speech, language, and cognitive development were assessed using screening and standardized assessments. Participants' Body Structures were assessed via oral motor examination, case history questionnaires, and observation. Participants' Activities and Participation as well as Environmental and Personal Factors were examined through case history questionnaires, interviews with significant others, parent report measures, and observations. Results Valuable insights can be gained from undertaking holistic speech-language pathology assessments with children with CP±L. Using multiple tools allowed for triangulation of data and privileging different viewpoints, to better understand the children and their contexts. Several children demonstrated speech error patterns outside of what are considered cleft speech characteristics, which underscores the importance of a broader assessment. Conclusion Speech-language pathologists can consider incorporating evaluation of all components and contextual factors of the ICF-CY when assessing and working with young children with CP±L to inform intervention and management practices