Further refinement of the nature of the communication impairment in Cornelia de Lange syndrome

Purpose – Research into the communication skills of individuals with Cornelia de Lange syndrome (CdLS) is extremely limited. This paper aims to evaluate the nature of these skills and impairments in CdLS using a detailed informant assessment of pre-verbal communication skills.
Design/methodology/approach – The study used the Pre-verbal Communication Schedule to evaluate communication skills in individuals with CdLS (n ¼ 14), aged five to14 years. The group was compared with a contrast group of individuals with Cri du Chat syndrome (CdCS; n ¼ 14) who were matched for age and intellectual ability.
Findings – A significant difference was identified in understanding non-vocal communication (p , 0.005), with the CdLS group showing a greater deficit. These findings indicate the presence of a syndrome-specific deficit in understanding non-verbal communication in individuals with CdLS and suggest that there may be a dissociation between the processing of verbal and non-verbal communication.
Originality/value – The findings indicate that, in many ways, these two syndrome groups are not dissimilar in terms of their communication skills. However, individuals with CdLS show a syndrome-specific deficit in understanding non-vocal communication relative to the CdCS group.

Impairment in movement skills of children with autistic spectrum disorders

We undertook this study to explore the degree of impairment in movement skills in children with autistic spectrum disorders (ASD) and a wide IQ range. Movement skills were measured using the Movement Assessment Battery for Children (M-ABC) in a large, well defined, population-derived group of children (n=101: 89 males,12 females; mean age 11y 4mo, SD 10mo; range 10y-14y 3mo) with childhood autism and broader ASD and a wide range of IQ scores. Additionally, we tested whether a parent-completed questionnaire, the Developmental Coordination Disorder Questionnaire (DCDQ), was useful in identifying children who met criteria for movement impairments after assessment (n=97 with complete M-ABCs and DCDQs). Of the children with ASD, 79% had definite movement impairments on the M-ABC; a further 10% had borderline problems. Children with childhood autism were more impaired than children with broader ASD, and children with an IQ less than 70 were more impaired than those with IQ more than 70. This is consistent with the view that movement impairments may arise from a more severe neurological impairment that also contributes to intellectual disability and more severe autism. Movement impairment was not associated with everyday adaptive behaviour once the effect of IQ was controlled for. The DCDQ performed moderately well as a screen for possible motor difficulties. Movement impairments are common in children with ASD. Systematic assessment of movement abilities should be considered a routine investigation.

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

The recent identification of multiple dominant mutations in the gene encoding β-catenin in both humans and mice has enabled exploration of the molecular and cellular basis of β-catenin function in cognitive impairment. In humans, β-catenin mutations that cause a spectrum of neurodevelopmental disorders have been identified. We identified de novo β-catenin mutations in patients with intellectual disability, carefully characterized their phenotypes, and were able to define a recognizable intellectual disability syndrome. In parallel, characterization of a chemically mutagenized mouse line that displays features similar to those of human patients with β-catenin mutations enabled us to investigate the consequences of β-catenin dysfunction through development and into adulthood. The mouse mutant, designated batface (Bfc), carries a Thr653Lys substitution in the C-terminal armadillo repeat of β-catenin and displayed a reduced affinity for membrane-associated cadherins. In association with this decreased cadherin interaction, we found that the mutation results in decreased intrahemispheric connections, with deficits in dendritic branching, long-term potentiation, and cognitive function. Our study provides in vivo evidence that dominant mutations in β-catenin underlie losses in its adhesion-related functions, which leads to severe consequences, including intellectual disability, childhood hypotonia, progressive spasticity of lower limbs, and abnormal craniofacial features in adults

Pretend play and maternal scaffolding : comparisons of toddlers with advanced development, typical development, and hearing impairment

This study used measures of pretend play and maternal scaffolding to explore and compare the early development of deaf children, typically developing children, and children showing advanced intellectual development. Marked differences were found among the groups in both play development and characteristics of mother-child interactions. In particular, children who scored above 130 IQ at four years of age were found, as toddlers, to have demonstrated significantly advanced pretend play. In addition, the mothers of the high IQ children engaged in scaffolding behaviors involving higher stages of pretend transformations, verbal analogies and world links. The findings are discussed in relation to children's learning in Vygotsky's Zone of Proximal Development, as well as possible implications for future research on early gifted development.

Intersections between disability, type of impairment, gender and socio-economic disadvantage in a nationally representative sample of 33,101 working aged Australians

Background:People with disabilities are socio-economically disadvantaged and have poorer health than people without disabilities; however, little is known about the way in which disadvantage is patterned by gender and type of impairment.Objectives:1. To describe whether socio-economic circumstances vary according to type of impairment (sensory and speech, intellectual, physical, psychological and acquired brain injury) 2. To compare levels of socio-economic disadvantage for women and men with the same impairment typeMethods:We used a large population-based disability-focused survey of Australians, analysing data from 33,101 participants aged 25 to 64. Indicators of socio-economic disadvantage included education, income, employment, housing vulnerability, and multiple disadvantage. Stratified by impairment type, we estimated: the population weighted prevalence of socio-economic disadvantage; the relative odds of disadvantage compared to people without disabilities; and the relative odds of disadvantage between women and men.Results:With few exceptions, people with disabilities fared worse for every indicator compared to people without disability; those with intellectual and psychological impairments and acquired brain injuries were most disadvantaged. While overall women with disabilities were more disadvantaged than men, the magnitude of the relative differences was lower than the same comparisons between women and men without disabilities, and there were few differences between women and men with the same impairment types.Conclusions:Crude comparisons between people with and without disabilities obscure how disadvantage is patterned according to impairment type and gender. The results emphasise the need to unpack how gender and disability intersect to shape socio-economic disadvantage.

High Prevalence of Dementia in a Community-Based Survey of Older People from Brazil: Association with Intellectual Activity Rather than Education

Although several surveys have been conducted around the world, few surveys have investigated the prevalence of dementia in Latin America. The aim of this study was to estimate dementia prevalence in a community sample in Ribeirao Preto, Brazil, and to evaluate its distribution across several socio-demographic and clinical characteristics and habits. The population was aged 60 years and older and a representative sample from three different social regions. The screening instruments used in the first phase were the Mini-Mental State Examination, the Fuld Object-Memory Evaluation, the Informant Questionnaire on Cognitive Decline in the Elderly, and the Bayer Activities of Daily Living Scale. In the second phase, the Cambridge Examination was employed to diagnose dementia according to the DSM-IV criteria. The estimate of dementia prevalence was adjusted for screening instrument performance, using the positive and negative predictive values. The data were weighted to compare frequencies, considering the sampling and the non-response effect, and subjected to multivariate analysis. In all, 1.145 elderly subjects were evaluated (mean age: 70.9 years), of whom 63.4% were female and 52.8% had up to 4 years of schooling (participation rates at the first and the second phases were 62.6 and 60%, respectively). The observed and estimated prevalences of dementia were 5.9% and 12.5%, respectively (n = 68). Alzheimer's disease was the main cause (60.3%). Dementia was associated with old age, low education, stroke, absence of arthritis, and not reading books. The estimated prevalence of dementia was higher than the prevalence previously found. Associated factors confirmed the importance of intellectual activities in prevention.

Firm social, cultural and intellectual capital : strategic indicators of international client satisfaction

Despite the increasing significance of the construction industry as an emerging sector of the Australian economy, there is inadequate research performed on construction design firms in terms of theoretical and empirical foundations. Although past research has identified the barriers and success factors for firm market entry, evidence suggests that to date no research has explicitly explored the sustainability of construction design firms in international markets. SMEs and their approach to firm internationalisation differ significantly from large manufacturing firms and a vast majority of construction design firms operate as SMEs. This paper develops a sustainable business model for construction design SMEs, which rely upon the development of clear Client Following (CF) versus Market Seeking (MS) strategies to support internal firm strategic and operational management. The understanding of these strategies is vital as the application of either will shape the design management approach of firms, which would in turn impact on the sustainability of these firms in foreign markets. Long-term sustainability of firms in international markets relies heavily upon client satisfaction. Client and project team participants’ communication during various design processes has often been problematic and the added difficulty of communicating across international boundaries further compounds the problem of capturing and maintaining client’s requirements. Therefore this paper develops a model for economic sustainability of Australian construction design firms working in international markets by exploring factors that affect client satisfaction across international boundaries, through the development of business performance indicators. These include not only the critical financial capital but also other ‘softer’ indicators, namely: social, cultural and intellectual capital. These act as a firm’s measure of success and the acquisition of this type of capital will provide significant advantages to firms’ success, hence sustainability in international markets.

Literacy, numeracy and learning in school-aged children identified as having speech and language impairment in early childhood

The progress of a nationally representative sample of 3632 children was followed from early childhood through to primary school, using data from the Longitudinal Study of Australian Children (LSAC). The aim was to examine the predictive effects of different aspects of communicative ability, and of early vs. sustained identification of speech and language impairment, on children's achievement and adjustment at school. Four indicators identified speech and language impairment: parent-rated expressive language concern; parent-rated receptive language concern; use of speech-language pathology services; below average scores on the adapted Peabody Picture Vocabulary Test-III. School outcomes were assessed by teachers' ratings of language/literacy ability, numeracy/mathematical thinking and approaches to learning. Comparison of group differences, using ANOVA, provided clear evidence that children who were identified as having speech and language impairment in their early childhood years did not perform as well at school, two years later, as their non-impaired peers on all three outcomes: Language and Literacy, Mathematical Thinking, and Approaches to Learning. The effects of early speech and language status on literacy, numeracy, and approaches to learning outcomes were similar in magnitude to the effect of family socio-economic factors, after controlling for child characteristics. Additionally, early identification of speech and language impairment (at age 4-5) was found to be a better predictor of school outcomes than sustained identification (at aged 4-5 and 6-7 years). Parent-reports of speech and language impairment in early childhood are useful in foreshadowing later difficulties with school and providing early intervention and targeted support from speech-language pathologists and specialist teachers.

An exploration of knowledge management and intellectual capital in a nonprofit organisation context

In recent years, practitioners and researchers alike have turned their attention to knowledge management (KM) in order to increase organisational performance (OP). As a result, many different approaches and strategies have been investigated and suggested for how knowledge should be managed to make organisations more effective and efficient. However, most research has been undertaken in the for-profit sector, with only a few studies focusing on the benefits nonprofit organisations might gain by managing knowledge. This study broadly investigates the impact of knowledge management on the organisational performance of nonprofit organisations. Organisational performance can be evaluated through either financial or non-financial measurements. In order to evaluate knowledge management and organisational performance, non-financial measurements are argued to be more suitable given that knowledge is an intangible asset which often cannot be expressed through financial indicators. Non-financial measurement concepts of performance such as the balanced scorecard or the concept of Intellectual Capital (IC) are well accepted and used within the for-profit and nonprofit sectors to evaluate organisational performance. This study utilised the concept of IC as the method to evaluate KM and OP in the context of nonprofit organisations due to the close link between KM and IC: Indeed, KM is concerned with managing the KM processes of creating, storing, sharing and applying knowledge and the organisational KM infrastructure such as organisational culture or organisational structure to support these processes. On the other hand, IC measures the knowledge stocks in different ontological levels: at the individual level (human capital), at the group level (relational capital) and at the organisational level (structural capital). In other words, IC measures the value of the knowledge which has been managed through KM. As KM encompasses the different KM processes and the KM infrastructure facilitating these processes, previous research has investigated the relationship between KM infrastructure and KM processes. Organisational culture, organisational structure and the level of IT support have been identified as the main factors of the KM infrastructure influencing the KM processes of creating, storing, sharing and applying knowledge. Other research has focused on the link between KM and OP or organisational effectiveness. Based on existing literature, a theoretical model was developed to enable the investigation of the relation between KM (encompassing KM infrastructure and KM processes) and IC. The model assumes an association between KM infrastructure and KM processes, as well as an association between KM processes and the various levels of IC (human capital, structural capital and relational capital). As a result, five research questions (RQ) with respect to the various factors of the KM infrastructure as well as with respect to the relationship between KM infrastructure and IC were raised and included into the research model: RQ 1 Do nonprofit organisations which have a Hierarchy culture have a stronger IT support than nonprofit organisations which have an Adhocracy culture? RQ 2 Do nonprofit organisations which have a centralised organisational structure have a stronger IT support than nonprofit organisations which have decentralised organisational structure? RQ 3 Do nonprofit organisations which have a stronger IT support have a higher value of Human Capital than nonprofit organisations which have a less strong IT support? RQ 4 Do nonprofit organisations which have a stronger IT support have a higher value of Structural Capital than nonprofit organisations which have a less strong IT support? RQ 5 Do nonprofit organisations which have a stronger IT support have a higher value of Relational Capital than nonprofit organisations which have a less strong IT support? In order to investigate the research questions, measurements for IC were developed which were linked to the main KM processes. The final KM/IC model contained four items for evaluating human capital, five items for evaluating structural capital and four items for evaluating relational capital. The research questions were investigated through empirical research using a case study approach with the focus on two nonprofit organisations providing trade promotions services through local offices worldwide. Data for the investigation of the assumptions were collected via qualitative as well as quantitative research methods. The qualitative study included interviews with representatives of the two participating organisations as well as in-depth document research. The purpose of the qualitative study was to investigate the factors of the KM infrastructure (organisational culture, organisational structure, IT support) of the organisations and how these factors were related to each other. On the other hand, the quantitative study was carried out through an online-survey amongst staff of the various local offices. The purpose of the quantitative study was to investigate which impact the level of IT support, as the main instrument of the KM infrastructure, had on IC. Overall several key themes were found as a result of the study: • Knowledge Management and Intellectual Capital were complementary with each other, which should be expressed through measurements of IC based on KM processes. • The various factors of the KM infrastructure (organisational culture, organisational structure and level of IT support) are interdependent. • IT was a primary instrument through which the different KM processes (creating, storing, sharing and applying knowledge) were performed. • A high level of IT support was evident when participants reported higher level of IC (human capital, structural capital and relational capital). The study supported previous research in the field of KM and replicated the findings from other case studies in this area. The study also contributed to theory by placing the KM research within the nonprofit context and analysing the linkage between KM and IC. From the managerial perspective, the findings gave clear indications that would allow interested parties, such as nonprofit managers or consultants to understand more about the implications of KM on OP and to use this knowledge for implementing efficient and effective KM strategies within their organisations.

Learning to drive with cognitive impairment : the experience of young ADHD diagnosed drivers and their parent supervisors

A subset of novice drivers exhibit executive function impairments which may adversely impact on the learn-to-drive period and subsequent driving experience, potentially explaining their overrepresentation in traffic offences and crashes. This paper presents the results of a qualitative analysis of a small series of in-depth semi-structured interviews undertaken individually with affected young drivers (n = 7) and each of their parent supervisors (n = 6). Young drivers were selected on the basis of their ADHD diagnosis, as a sample particularly affected by executive function impairments. Standardised rating scale measures confirmed the currency of the young drivers’ ADHD symptoms and executive function impairment. Results are discussed in terms of common experiences of the young affected drivers and those of their parents as supervising drivers of the learn-to-drive process and subsequent driving behaviour. Key themes included difficulties that were related to core executive function impairments symptomatic of ADHD. Themes also included common emotions that the young drivers associated with driving, with particular types of impact on their driving behaviour. Common strategies that were used by both the young driver and their parent during this learning process and their perceived effectiveness are also discussed. Those that were perceived to be most effective tended to focus on reducing the cognitive load for the young driver when introducing new information and skills.

Social adaptation of children with mild intellectual disability : effects of partial integration within primary school classes

Examined the social adaptation of 32 children in grades 3–6 with mild intellectual disability: 13 Ss were partially integrated into regular primary school classes and 19 Ss were full-time in separate classes. Sociometric status was assessed using best friend and play rating measures. Consistent with previous research, children with intellectual disability were less socially accepted than were a matched group of 32 children with no learning disabilities. Children in partially integrated classes received more play nominations than those in separate classes, but had no greater acceptance as a best friend. On teachers' reports, disabled children had higher levels of inappropriate social behaviours, but there was no significant difference in appropriate behaviours. Self-assessments by integrated children were more negative than those by children in separate classes, and their peer-relationship satisfaction was lower. Ratings by disabled children of their satisfaction with peer relationships were associated with ratings of appropriate social skills by themselves and their teachers, and with self-ratings of negative behaviour. The study confirmed that partial integration can have negative consequences for children with an intellectual disability.

“I want to see the Queen” : experiences of service use by ageing people with an intellectual disability

People with intellectual disability are a relatively new but growing minority group within Australia's ageing population. Disability policies point to the equal right of people with disabilities to a quality of life similar to that of other citizens. Disability services are increasingly required to provide individualised and responsive services, irrespective of age, for people with lifelong disabilities. The present study explored the everyday lives of older people with intellectual disability in Victoria and Queensland, examining their experiences of using disability services and the ways in which services responded to their ageing. The aim of the study was to inform practice and service development for older people with intellectual disability. The findings suggest that services facilitate important social relationships with other service users and staff. Most older people had a sense of belonging and led busy but directionless lives in two disconnected worlds. Their lives were subject to significant external present-focused control. Yet, despite this, neither services nor family members took responsibility for ensuring their sense of continuity or supporting the development of plans about their future. The experiences described suggest an urgent need for, but significant challenges in the implementation of, holistic indivdualised planning similar to the UK concept of person-centred planning.