The importance of understanding the behavioural phenotypes of genetic syndromes associated with intellectual disability

Behavioural phenotype research is of benefit to a large number of children with genetic syndromes and associated developmental delay. This article presents an overview of this research area and demonstrates how understanding pathways between gene disorders and behaviour can inform our understanding of the difficulties individuals with genetic syndromes and developmental delay experience, including self-injurious behaviour, social exploitation, social anxiety, social skills deficits, sensory differences, temper outbursts and repetitive behaviours. In addition, physical health difficulties and their interaction with behaviour are considered. The article demonstrates the complexity involved in assessing a child with a rare genetic syndrome.

Exploring the Influence of Reporting Delay on Criminal Justice Outcomes: Comparing Child and Adult Reporters of Childhood Sexual Abuse

Delay between disclosure and reporting child sexual abuse is common and has significant implications for the prosecution of such offenses. While we might expect the relationship to be a linear one with longer delay reducing the likelihood of prosecution, the present study confirms a more complex interaction. Utilizing data from 2,079 police records in Northern Ireland, the study investigated the impact of reporting delay on pretrial criminal justice outcomes for child and adult reporters of child sexual abuse. While teenagers were found to be the group most disadvantaged by reporting delay, increased delay actually appeared advantageous for some groups, notably adult females reporting offenses that occurred when they were 0 to 6 years old. Conversely, adult males reporting child sexual abuse did not appear to benefit from increased delay, suggesting both an adult and gender bias within decision-making processes. The implications for future research are discussed. 

Early childhood neurodevelopment after intrauterine growth restriction: a systematic review

BACKGROUND AND OBJECTIVE: Children who experienced intrauterine growth restriction (IUGR) may be at increased risk for adverse developmental outcomes in early childhood. The objective of this study was to carry out a systematic review of neurodevelopmental outcomes from 6 months to 3 years after IUGR.

METHODS: PubMed, Embase, PsycINFO, Maternity and Infant Care, and CINAHL databases were searched by using the search terms intrauterine, fetal, growth restriction, child development, neurodevelopment, early childhood, cognitive, motor, speech, language. Studies were eligible for inclusion if participants met specified criteria for growth restriction, follow-up was conducted within 6 months to 3 years, methods were adequately described, non-IUGR comparison groups were included, and full English text of the article was available. A specifically designed data extraction form was used. The methodological quality of included studies was assessed using well-documented quality-appraisal guidelines.

RESULTS: Of 731 studies reviewed, 16 were included. Poorer neurodevelopmental outcomes after IUGR were described in 11. Ten found motor, 8 cognitive, and 7 language delays. Other delays included social development, attention, and adaptive behavior. Only 8 included abnormal Doppler parameters in their definitions of IUGR.

CONCLUSIONS: Evidence suggests that children are at risk for poorer neurodevelopmental outcomes following IUGR from 6 months to 3 years of age. The heterogeneity of primary outcomes, assessment measures, adjustment for confounding variables, and definitions of IUGR limits synthesis and interpretation. Sample sizes in most studies were small, and some examined preterm IUGR children without including term IUGR or AGA comparison groups, limiting the value of extant studies.

Awareness of sunburn in childhood, use of sunbeds and change of moles in Denmark, Northern Ireland, Norway and Sweden

Background: Malignant melanoma (MM) is increasing rapidly in Northern Europe. To reduce incidence and mortality through earlier diagnosis, public awareness of MM is important. Thus, we aim to examine awareness of risk factors and a symptom of MM, and how awareness varies by country and socio-demographic factors in Denmark, Northern Ireland (NI), Norway and Sweden.

Methods: Population-based telephone interviews using the ‘Awareness and Beliefs about Cancer’ measure were conducted in 2011 among 8355 adults ≥50 years as part of the International Cancer Benchmarking Partnership Module 2. Prevalence ratios (PRs) with 95% confidence intervals were calculated.

Results: In these four countries, lowest awareness was found for ‘sunburn in childhood’ (63%), whereas awareness was high for ‘use of sunbeds’ (91%) and ‘mole change’ (97%). Lack of awareness of ‘sunburn in childhood’ was more prevalent among respondents from Norway [PR = 1.38 (1.28–1.48)] but less prevalent among respondents from Northern Ireland (NI) [PR = 0.78 (0.72–0.85)] and Sweden [PR = 0.86 (0.79–0.93)] compared with respondents from Denmark. Lack of awareness of ‘use of sunbeds’ was more prevalent among respondents from Norway [PR = 2.99 (2.39–3.74)], Sweden [PR = 1.57 (1.22–2.00)], and NI [PR = 1.65 (1.30–2.10)] compared with respondents form Denmark. Being a man, age ≥70, living alone, and having lower education, were each independently associated with lack of MM-awareness.

Conclusions: The results indicate relatively low awareness of ‘sunburn in childhood’ as a risk factor for MM, and important disparities in MM-awareness across countries and socio-demographic groups. Improved and more directed initiatives to enhance public MM-awareness, particularly about ‘sunburn in childhood’, are needed.

Correlates of sport participation in adults with long-standing illness or disability.

Background: Little is known about why people with a long-standing illness/disability are less likely to participate in sport than others. This study aimed to identify for the first time sport participation levels and their correlates among Northern Ireland (NI) adults who report a long-standing illness/disability. Method Using data collected in the Continuous Household Survey, an annual survey of a random sample of the NI population, during 2007–2011, we examined responses for the total sample, those with a long-term illness/disability and those with no long-term health issues. We conducted univariate binary regression analysis for the whole sample and for those with a long-standing illness or disability, using sport participation as the dependent variable, and then carried significant variables into a multivariate analysis. Results: The sample included 13 683 adults; 3550 (26%) reported a long-term illness or disability. Multivariate analysis showed that, for the total sample and for those with a long-standing illness or disability, sport participation correlated positively with being male, aged <56 years, having a household car/van, health being ‘fairly good’/‘good’ in the previous year, doing work and living in an urban location. Also, for those with a long-standing illness or disability, being single and less socioeconomically deprived correlated positively with sport participation. Conclusions: The findings suggest that more focused efforts may promote sport participation for people with a long-standing illness or disability who are female, older, not working, living rurally, married/cohabiting, socioeconomically deprived and report having had poor health in the past year. Our findings should inform public health policy and help in developing initiatives to support sport participation and reduce health inequalities.

Merit, Speech Disability and Discrimination

There is a substantial body of evidence – going back over decades – which indicates that the employment sphere is difficult for those who suffer a speech disability. To a large extent, I argue, this is due to the setting of merit in terms of orality and aesthetic. It also relates to the low perception of competence of the speech disabled. I argue that to be effective against discrimination the notion of merit and its assessment requires focus. ‘Merit’ as a concept in discrimination law has had its critics, yet it remains important to investigate it as social construct in order to help understand discrimination and how to counter this. For example, in this article I look at an instance where the resetting of what was viewed as ‘meritorious’ in judicial recruitment successfully improved the diversity in lower judicial posts.

Further, given the relative failure of the employment tribunal system to improve the general position of those who are disabled, I look to alternative methods of countering disability discrimination. The suggestion provided is that an enforced ombudsman type approach capable of dealing with what may be the core issue around employment discrimination (‘merit’) would provide a better mechanism for handling the general situation of disability discrimination than the tribunal system.

The Sociology of Children, Childhood and Generation

Outlining sociology’s distinctive contribution to childhood studies and our understanding of contemporary children and childhood, The Sociology of Children provides a thought provoking and comprehensive account of the connections between the macro worlds of childhood and the micro worlds of children’s everyday lives.

Examining children’s involvement in areas such as the labour market, family life, education, play and leisure, the book provides an effective balance between understanding childhood as a structural phenomenon, and recognising children as meaning makers actively involved in constructing, co-constructing and reconstructing their everyday lives.

Through the concept of 'generagency' Madeleine Leonard offers a model for examining and illuminating how structure and agency are activated within interdependent relationships influenced by generational positioning. This framework provides a conceptual tool for thinking about the continuities, challenges and changes that impact on how childhood is lived and experienced.

European Union non-discrimination law and intersectionality:Investigating the triangle of racial, gender and disability discrimination

This book contributes to a critical reflection of current legislative and jurisprudential developments in Non-Discrimination Law, focusing on the European Union. The book is focused on intersectionality between gender, race and disability and the question of whether, and to what extent, this intersection can be adequately addressed in (EU) law. The discussion rests on two basic assumptions. First, the multiplication of 'discrimination grounds' in EU law and other legal regimes should not result in a dilution of the demands of equality law. Accordingly, the book focuses on the three key grounds - race, gender and disability. These constitute nodes around which other discrimination grounds can be grouped. Second, any multi-ground non-discrimination law framework needs to engage with the question of discrimination on several grounds. This book provides a critical evaluation of some of the problems presented by such intersectionality and an opportunity to explore the issues in depth. This collection offers some new proposals relating to the regrouping of identity categories and to the general approach to socio-legal research in the field. It also contains a comparative section, which expands on practical experiences with intersectionality and law, and a section dedicated to juridical responses to intersectionality.

Minimal residual disease detection in childhood acute lymphoblastic leukaemia patients at multiple time-points reveals high levels of concordance between molecular and immunophenotypic approaches

In this single centre study of childhood acute lymphoblastic leukaemia (ALL) patients treated on the Medical Research Council UKALL 97/99 protocols, it was determined that minimal residual disease (MRD) detected by real time quantitative polymerase chain reaction (RQ-PCR) and 3-colour flow cytometry (FC) displayed high levels of qualitative concordance when evaluated at multiple time-points during treatment (93.38%), and a combined use of both approaches allowed a multi time-point evaluation of MRD kinetics for 90% (53/59) of the initial cohort. At diagnosis, MRD markers with sensitivity of at least 0.01% were identified by RQ-PCR detection of fusion gene transcripts, IGH/TRG rearrangements, and FC. Using a combined RQ-PCR and FC approach, the evaluation of 367 follow-up BM samples revealed that the detection of MRD >1% at Day 15 (P = 0.04), >0.01% at the end of induction (P = 0.02), >0.01% at the end of consolidation (P = 0.01), >0.01% prior to the first delayed intensification (P = 0.01), and >0.1% prior to the second delayed intensification and continued maintenance (P = 0.001) were all associated with relapse and, based on early time-points (end of induction and consolidation) a significant log-rank trend (P = 0.0091) was noted between survival curves for patients stratified into high, intermediate and low-risk MRD groups.

Wilms' tumor gene 1 (WT1) expression in childhood acute lymphoblastic leukemia:a wide range of WT1 expression levels, its impact on prognosis and minimal residual disease monitoring

Wilms' tumor gene 1 (WT1) is overexpressed in the majority (70-90%) of acute leukemias and has been identified as an independent adverse prognostic factor, a convenient minimal residual disease (MRD) marker and potential therapeutic target in acute leukemia. We examined WT1 expression patterns in childhood acute lymphoblastic leukemia (ALL), where its clinical implication remains unclear. Using a real-time quantitative PCR designed according to Europe Against Cancer Program recommendations, we evaluated WT1 expression in 125 consecutively enrolled patients with childhood ALL (106 BCP-ALL, 19 T-ALL) and compared it with physiologic WT1 expression in normal and regenerating bone marrow (BM). In childhood B-cell precursor (BCP)-ALL, we detected a wide range of WT1 levels (5 logs) with a median WT1 expression close to that of normal BM. WT1 expression in childhood T-ALL was significantly higher than in BCP-ALL (P<0.001). Patients with MLL-AF4 translocation showed high WT1 overexpression (P<0.01) compared to patients with other or no chromosomal aberrations. Older children (> or =10 years) expressed higher WT1 levels than children under 10 years of age (P<0.001), while there was no difference in WT1 expression in patients with peripheral blood leukocyte count (WBC) > or =50 x 10(9)/l and lower. Analysis of relapsed cases (14/125) indicated that an abnormal increase or decrease in WT1 expression was associated with a significantly increased risk of relapse (P=0.0006), and this prognostic impact of WT1 was independent of other main risk factors (P=0.0012). In summary, our study suggests that WT1 expression in childhood ALL is very variable and much lower than in AML or adult ALL. WT1, thus, will not be a useful marker for MRD detection in childhood ALL, however, it does represent a potential independent risk factor in childhood ALL. Interestingly, a proportion of childhood ALL patients express WT1 at levels below the normal physiological BM WT1 expression, and this reduced WT1 expression appears to be associated with a higher risk of relapse.

Patterns of hematopoietic chimerism following bone marrow transplantation for childhood acute lymphoblastic leukemia from volunteer unrelated donors

Hematopoietic chimerism was analyzed in serial bone marrow samples taken from 28 children following T-cell depleted unrelated donor bone marrow transplants (UD BMT) for acute lymphoblastic leukemia (ALL). Chimeric status was determined by polymerase chain reaction (PCR) of simple tandem repeat (STR) sequences (maximal sensitivity, 0.1%). At least two serial samples were examined in 23 patients. Of these, two had evidence of complete donor engraftment at all times and eight showed stable low level mixed chimerism (MC) (<1% recipient hematopoiesis). All 10 of these patients remain in remission with a minimum follow-up of 24 months. By contrast, 13 patients demonstrated a progressive return of recipient hematopoiesis. Five of these relapsed (4 to 9 months post BMT), one died of cytomegalovirus pneumonitis and seven remain in remission with a minimum follow-up of 24 months. Five children were excluded from serial analysis as two serial samples were not collected before either relapse (3) or graft rejection (2). We conclude that as with sibling transplants, ex vivo T depleted UD BMT in children with ALL is associated with a high incidence of MC. Stable donor engraftment and low level MC always correlated with continued remission. However, detection of a progressive return of recipient cells did not universally correlate with relapse, but highlighted those patients at greatest risk. Serial chimerism analysis by PCR of STRs provides a rapid and simple screening technique for the detection of relapse and the identification of patients with progressive MC who might benefit from detailed molecular analysis for minimal residual disease following matched volunteer UD BMT for childhood ALL.

Childhood, Rights and Justice in Northern Ireland

Building on primary research and previous publications (Haydon, 2012; Haydon, 2014; Haydon and Scraton, 2008; McAlister, Scraton and Haydon, 2009; Scraton and Haydon, 2002), this chapter will provide a critical analysis of children’s rights and youth justice in Northern Ireland. More broadly, it will consider recent research concerning the criminalisation of children and young people in the United Kingdom and profound concerns regarding the policing and regulation of children raised in successive concluding observations about the UK Government’s implementation of the UN Convention on the Rights of the Child (UN Committee on the Rights of the Child, 1995, 2002, 2008). From this generic context, the chapter will map the ‘particular circumstances’ of Northern Ireland - a discrete legal jurisdiction to which powers for justice and policing were devolved only in 2010. Emerging from four decades of conflict and progressing through an uneasy ‘peace’, rights-based institutions and enabling legislation have, in principle, promoted and protected human rights. Yet children and young people living in communities marginalised by poverty and the legacy of conflict continue to experience inconsistent formal regulation by the police and the criminal justice system, while enduring often brutal informal regulation by paramilitaries. The chapter will explore evident tensions between the dynamics of criminalisation and promotion/ protection of children’s rights in a society transitioning from conflict. Further, it will analyse the challenges to securing children’s rights principles and provisions within a hostile political and ideological context, arguing for a critical rights-based agenda that promotes social justice through rights compliance together with policies and practices that address the structural inequalities faced by children and young people.