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

Young people with intellectual disabilities attending mainstream and segregated schooling: perceived stigma, social comparison and future aspirations

Mainstream schooling is a key policy in the promotion of social inclusion of young people with learning disabilities. Yet there is limited evidence about the school experience of young people about to leave mainstream as compared with segregated education, and how it impacts on their relative view of self and future aspirations. Sixty young people with mild to moderate intellectual disabilities in their final year of secondary school participated in this study. Twenty-eight individuals came from mainstream schools and 32 attended segregated school. They completed a series of self-report measures on perceptions of stigma, social comparison to a more disabled and non-disabled peer and the likelihood involved in attaining their future goals. The majority of participants from both groups reported experiencing stigmatized treatment in the local area where they lived. The mainstream group reported significant additional stigma at school. In terms of social comparisons, both groups compared themselves positively with a more disabled peer and with a non-disabled peer. While the mainstream pupils had more ambitious work-related aspirations, both groups felt it equally likely that they would attain their future goals. Although the participants from segregated schools came from significantly more deprived areas and had lower scores on tests of cognitive functioning, neither of these factors appeared to have an impact on their experience of stigma, social comparisons or future aspirations. Irrespective of schooling environment, the young people appeared to be able to cope with the threats to their identities and retained a sense of optimism about their future. Nevertheless, negative treatment reported by the children was a serious source of concern and there is a need for schools to promote the emotional well-being of pupils with intellectual disabilities.

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.

IQ in children with autism spectrum disorders: data from the Special Needs and Autism Project (SNAP)

Background Autism spectrum disorder (ASD) was once considered to be highly associated with intellectual disability and to show a characteristic IQ profile, with strengths in performance over verbal abilities and a distinctive pattern of ‘peaks’ and ‘troughs’ at the subtest level. However, there are few data from epidemiological studies. Method Comprehensive clinical assessments were conducted with 156 children aged 10–14 years [mean (s.d.)=11.7 (0.9)], seen as part of an epidemiological study (81 childhood autism, 75 other ASD). A sample weighting procedure enabled us to estimate characteristics of the total ASD population. Results Of the 75 children with ASD, 55% had an intellectual disability (IQ<70) but only 16% had moderate to severe intellectual disability (IQ<50); 28% had average intelligence (115>IQ>85) but only 3% were of above average intelligence (IQ>115). There was some evidence for a clinically significant Performance/Verbal IQ (PIQ/VIQ) discrepancy but discrepant verbal versus performance skills were not associated with a particular pattern of symptoms, as has been reported previously. There was mixed evidence of a characteristic subtest profile: whereas some previously reported patterns were supported (e.g. poor Comprehension), others were not (e.g. no ‘peak’ in Block Design). Adaptive skills were significantly lower than IQ and were associated with severity of early social impairment and also IQ. Conclusions In this epidemiological sample, ASD was less strongly associated with intellectual disability than traditionally held and there was only limited evidence of a distinctive IQ profile. Adaptive outcome was significantly impaired even for those children of average intelligence.

Social approach in preschool children with Williams syndrome: the role of the face

Background Indiscriminate social approach behaviour is a salient aspect of the Williams syndrome (WS) behavioural phenotype. The present study examines approach behaviour in preschoolers with WS and evaluates the role of the face in WS social approach behaviour. Method Ten preschoolers with WS (aged 3-6 years) and two groups of typically developing children, matched to the WS group on chronological or mental age, participated in an observed play session. The play session incorporated social and non-social components including two components that assessed approach behaviour towards strangers, one in which the stranger’s face could be seen and one in which the stranger’s face was covered. Results In response to the non-social aspects of the play session, the WS group behaved similarly to both control groups. In contrast, the preschoolers with WS were significantly more willing than either control group to engage with a stranger, even when the stranger’s face could not be seen. Conclusion The findings challenge the hypothesis that an unusual attraction to the face directly motivates social approach behaviour in individuals with WS.

Children's sociospatial (re)production of disability within primary school playgrounds

There is a contemporary shift in the institutional context of 'disabled' children's education in the United Kingdom from segregated special to mainstream schools. This change is tied to wider deinstitutionalised or reinstitutionalised geographies of disabled people, fragile globalised educational 'inclusion' agendas, and broader concerns about social cohesiveness. Although coeducating children is expected to transform negative representations of (dis)ability in future society, there are few detailed explorations of how children's everyday sociospatial practices (re)produce or transform dominant representations of (dis)ability. With this in mind, children's contextual and shifting performances of (dis)ability in two case study school playground (recreational) spaces are explored. The findings demonstrate that children with mind-body differences are variously (dis)abled, in comparison with sociospatially shifting norms of ability, which have body, learning, and emotional-social facets. The discussion therefore places an emphasis on the need to incorporate 'intellectual' and 'emotional' differences more fully into geographical studies of disability and identity. The paper has wider resonance for transformative expectations placed on colocating children with a variety of 'axes of difference' (such as gender, 'race, ethnicity, and social class) in schools.

Embodying and destabilising disability and childhood

Young people's bodies have been at the centre of much policy and media discourse of late, forming the focal point of moral panics about obesity, substance abuse, and anti-social behaviour, to name just a few. Political responses to these issues are often focused on finding 'pragmatic' solutions based on a normative understanding of child development. This book, instead, demonstrates the contested and differentiated nature of childhood and youth embodiment. It combines the critical analysis of imagined and disciplined youthful bodies with a focus on young people's lived and performed, embodied subjectivities. Contested Bodies of Childhood and Youth points towards ways of addressing the issues that affect young people's wellbeing without criminalising and stigmatising them. It presents cutting edge interdisciplinary research in an accessible style that seeks to bridge the divide between theory and practice in research.

Disabled access and heritage attractions

In a UK context, the importance of heritage tourism, the potential of the disabled market, and government policies concerning tourism, social inclusion, and the historic environment provide the setting within which access improvements at heritage attractions for disabled visitors are studied. At issue is how disabled access and conservation can be reconciled. The stakeholders range from the central actors, the disabled tourists and the heritage tourism service providers, through to the gatekeeper and lobby players in the conservation, disability, and tourism contexts. The critical power structures are identified. Changes to the historic environment are managed through the conservation planning system in which disability interests are not formally represented. Recent disability discrimination legislation has not altered this balance of power, and is a source of uncertainty over the access standards that should apply to heritage attractions. An evaluation of progress in implementing access improvements at heritage attractions reveals the limited extent of improvements undertaken to date. Consideration is given not only to physical access but also to alternative methods (intellectual access) of providing the heritage tourism service. In conclusion, the situation is examined from three perspectives. From the disabled tourists' perspective, choice of heritage attractions to visit remains restricted compared to that of nondisabled tourists. The lack of consultation with disabled stakeholders in the access improvements decision-making process is discussed, including the acceptability of alternative methods of service delivery to disabled tourists. The uncertainties facing heritage tourism service providers arising from the disability discrimination legislation are considered but, to ensure a more balanced recognition of disability interests, both conservation planning and disability discrimination legislation need to be amended, adjusting the roles of the legislative gatekeepers.

Access to historic environments for tourists with disabilities: a compromise?

Historic environments, the basis for heritage tourism, are difficult to access for people with disabilities. Many countries have introduced legislation to promote equal rights for people with disabilities. Historic environments, however, enjoy protection under national planning systems which limit the physical access improvements that can be made. The significance of historic environments for tourism in the UK is outlined. Barriers restricting tourists with disabilities accessing historic sites are reviewed from the heritage tourism service provider's viewpoint. Interests of the major stakeholders are considered in terms of the apparent conflict between conservation and access issues as heritage tourism service providers seek to comply with disability discrimination legislation. From a study of access improvements made by major heritage tourism service providers, good practice is identified. However, physical access improvements to enable tourists with disabilities to visit historic environments are a compromise because of the strength of conservation interests. Questions remain as to whether this compromise is acceptable to the tourist with disabilities and whether intellectual access is an acceptable substitute for physical presence.

Heritage property, tourism and the UK Disability Discrimination Act

Heritage tourism depends on a physical resource based primarily on listed buildings and scheduled monuments. Visiting or staying in a historic building provides a rich tourism experience, but historic environments date from eras when access for disabled people was not a consideration. Current UK Government policy now promotes social inclusion via an array of equal opportunities, widening participation and anti-discrimination policies. Historic environments enjoy considerable legislative protection from adverse change, but now need to balance conservation with public access for all. This paper discusses the basis of research being undertaken by The College of Estate Management funded by the Mercers Company of London and the Harold Samuel Trust. It assesses how the 1995 Disability Discrimination Act has changed the legal obligations of owners/operators in managing access to listed buildings in tourism use. It also examines the key stakeholders and power structures in the management of historic buildings and distinguishes other important players in the management process.

Intellectual property management in M&A transactions

Purpose – The purpose of this paper is to focus on the intellectual property (IP) aspects of mergers and acquisitions (M&A) transactions. Design/methodology/approach – A holistic approach is proposed that embraces IP as an integral part of the M&A process in the form of a roadmap for the strategic and purposeful management of IP assets in M&A deals. Findings – Addressing IP issues in transactions in isolation can lead to undesirable consequences (e.g. considerable costs for unplanned purchases of rights). IP due diligence and IP integration project processes can be automated using collaborative software solutions. Thereby, risk can be reduced through the creation of a high level of transparency and predefined responsibilities. Practical implications – Although the proposed IP management framework is based on intellectual property matters relevant to German jurisdiction, conclusions derived and the proposed roadmap are transferable to other jurisdictions and hence have a broader relevance. Evidence for this is provided by the successful application of the roadmap in the context of the multinational transaction stated above. Originality/value – This paper is based on the authors' collective experience, insight and reflected observation of M&A practice gained in advisory M&A roles in management consultancies over a period of more than a decade. The paper summarizes the authors' reflections and observations and brings these into the context of the current management literature. Moreover, this paper builds on earlier published research.