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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.

The study used the Pre-verbal Communication Schedule to evaluate communication skills in individuals with CdLS (n=14), aged five to14 years. The group was compared with a contrast group of individuals with Cri du Chat syndrome (CdCS; n=14) who were matched for age and intellectual ability.

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.

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.

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.

The behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and teens. The purpose of this study was to promote a better understanding of how this condition manifests in adults.

A total of 18 men of FXS were paired with men with Down syndrome on the basis of age and level of ID. A screening checklist was created on the basis of existing scales and the Hagerman et al. (2009) behavioral phenotype and completed by care providers.

Five of the 12 features of the phenotype were significantly more present among men with FXS than in men with Down syndrome.

This study provides partial confirmation for Hagerman et al.’s (2009) behavioral phenotype of FXS among men with moderate ID and identified some traits that warrant further investigation.

The adoption of a research-informed approach to teaching about homelessness has allowed the authors to provide diverse groups of learners with a range of traditional and more embodied educative experiences, both inside and outside of the classroom. While conventional research methods and outputs have provided a useful starting point for learners with no or limited working knowledge of homelessness, innovative approaches to research and outputs – which have prioritised giving a voice to homeless people themselves – have been particularly important in developing the critical empathy of learners towards the subject. To ensure an effective relationship between research and teaching (particularly when teaching those who work in the homelessness sector), the authors needed a good understanding of the prior learning and experiences, roles, operating contexts and needs of their learners, to teach from a position of empathy, and to work collaboratively with learners to further understanding.

The association between education and health is one of the most robust empiric findings over the past several decades. At each higher level of education, prevalence of most types of chronic disease decreases. However, understanding of the mechanisms through which education is related to chronic disease is limited. Specifically, the literature provides little evidence of the explanatory factors in the pathways linking education and health. Better scientific understanding of the pathways through which education influences health may help to explain the well-documented association between socioeconomic position (SEP) and health and could lead to improved intervention strategies for health disparities. We review the potential pathways through which education may influence health and the evidence that explicitly tests these hypothesized pathways and provide direction for future research in this field.

Any topic can be sensitive, and every subject area will have sensitive issues and topics that academics in higher education and further education settings will be expected to negotiate. Your ability to negotiate sensitive topics is important because the ways in which you engage and teach about sensitive topics will affect your ability to provide a positive learning experience and teaching alliance with students. In practice, you will face enormous pressure to ‘deliver’ on teaching, which will only be mirrored by similar freedoms in deciding on how and what needs to be done to get students to where they need to be. Negotiating, identifying, preparing for and delivering teaching on sensitive subjects and topics can be difficult in individual academics. This chapter, seeks to prepare you for developing a deeper understanding of some of the philosophical, theoretical, and practical-based concerns and issues related to teaching sensitive topics and subjects. This chapter begins with providing a rationale for what follows, and it explores some of the key themes, positionality, identity, transformational learning and lived experience, that are explored in greater depth in the collection. This chapter also contains a detailed breakdown of the structure and the content of this edited collection, and it concludes with some reflective comments about the implications of the collection for you as an individual and your career.

The purpose of this paper is to present a rationale for increasing initiatives for early intervention of emotional and behaviour difficulties.

The authors draw on existing literature regarding rates of emotional and behavioural difficulties together with risk factors and processes related to the development of such difficulties.

Rates of emotional and behavioural difficulties amongst children with learning and developmental difficulties are high. A combination of factors relating to the child, the family system, and wider social contexts is likely to account for this.

Increased attempts to provide early intervention to children with learning and developmental disabilities together with their families are warranted. Recommendations are made regarding how the development of such supports might best be taken forward.

Whilst drawing on pre-existing literature, the value of this paper is the way in which this has been drawn together to provide an overview of risk and development of behavioural and other difficulties amongst children with learning/developmental disabilities.

Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of autism spectrum disorder (ASD), yet no single genetic, neurological or neurophysiological risk marker is necessary or sufficient to increase risk for ASD. This paper aims to discuss the utility of adopting a developmental perspective.

The increasing number of TSC infants presenting with abnormalities prenatally provides a unique opportunity to study risk pathways to ASD from birth. Here, the authors review findings to date that support the investigation of infants with TSC to further our understanding of typical and atypical development.

Evidence has accumulated from studies of infants at familial risk for ASD (“baby siblings”) to suggest that early markers of ASD are present in the first year of life. The early waves of prospective studies of infants with TSC indicate dynamic changes in developmental trajectories to ASD and are likely to provide insight into cascading effects of brain “insult” early in development. Emerging evidence of phenotypic and biological homology between syndromic and idiopathic cases of ASD supports the notion of a convergence of risk factors on a final common pathway in ASD.

The delineation of brain-based biomarkers of risk, prediction and treatment response in TSC will be critical in aiding the development of targeted intervention and prevention strategies for those infants at high risk of poorer developmental outcomes.