Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families

Erythropoietic protoporphyria (EPP) is associated with a deficiency of protohaem ferrolyase. We have used a novel assay for this enzyme based on its ability to utilize zinc as a substrate to investigate the inheritance of EPP in nine affected families. Zinc chelatase activity was markedly reduced in peripheral blood mononuclear cells from 14 EPP patients (mean, 3.3 nmol Zn protohaem/h/mg protein; range, 0.3-8.0) when compared with 41 controls (16.8 +/- 3.6) p less than 0.01. In three families with parent-to-child transmission of disease, the asymptomatic parent had an enzymatic activity within the normal range. In three pedigrees where the parents were asymptomatic, enzymatic activities were below the 95% confidence limits in both. Zinc chelatase activity was below the mean control value in 17 of the 18 parents in nine affected pedigrees, and six of seven asymptomatic offspring of patients with protoporphyria. The findings suggest that EPP is not transmitted as a simple dominant trait and that inheritance of more than one gene may be required for disease expression.

A longitudinal study of child sleep in high and low risk families: relationship to early maternal settling strategies and child psychological functioning

Objectives To investigate whether sleep disturbances previously found to characterise high risk infants: (a) persist into childhood; (b) are influenced by early maternal settling strategies and (c) predict cognitive and emotional/behavioural functioning. Methods Mothers experiencing high and low levels of psychosocial adversity (risk) were recruited antenatally and longitudinally assessed with their children. Mothers completed measures of settling strategies and infant sleep postnatally, and at 12 and 18 months, infant age. At five years, child sleep characteristics were measured via an actigraphy and maternal report; IQ and child adjustment were also assessed. Results Sleep disturbances observed in high-risk infants persisted at five years. Maternal involvement in infant settling was greater in high risk mothers, and predicted less optimal sleep at five years. Poorer five year sleep was associated with concurrent child anxiety/depression and aggression, but there was limited evidence for an influence of early sleep problems. Associations between infant/child sleep characteristics and IQ were also limited. Conclusions Early maternal over-involvement in infant settling is associated with less optimal sleep in children, which in turn, is related to child adjustment. The findings highlight the importance of supporting parents in the early development of good settling practices, particularly in high-risk populations.

What next for children's services? Can policy at a local or national level have any significant impact on the outcomes for children and their families?

In England at both strategic and operational levels, policy-makers in the public sector have undertaken considerable work on implementing the findings of the Every Child Matters report and subsequently through the Children's Act 2004. Legislation has resulted in many local authorities seeking to implement more holistic approaches to the delivery of children's services. At a strategic level this is demonstrated by the creation of integrated directorate structures providing for a range of services, from education to children's social care. Such services were generally under the management of the Director of Children's Services, holding statutory responsibilities for the delivery of services formally divided into the three sectors of education, health and social services. At a national level, more fundamental policy developments have sought to establish a framework through which policy-makers can address the underlying causes of deprivation, vulnerability and inequality. The Child Poverty Act, 2010, which gained Royal Assent in 2010, provides for a clear intention to reduce the number of children in poverty, acknowledging that ‘the best way to eradicate child poverty is to address the causes of poverty, rather than only treat the symptoms’. However, whilst the policy objectives of both pieces of legislation hold positive aspirations for children and young people, a change of policy direction through a change of government in May 2010 seems to be in direct contrast to the intended focus of these aims. This paper explores the impact of new government policy on the future direction of children's services both at the national and local levels. At the national level, we question the ability of the government to deliver the aspirations of the Child Poverty Act, 2010, given the broad range of influences and factors that can determine the circumstances in which a child may experience poverty. We argue that poverty is not simply an issue of the pressure of financial deprivation, but that economic recession and cuts in government spending will further increase the number of children living in poverty.

Regulating working families in the European Union: a history of disjointed strategies

Families in market economies worldwide have long been confronted with the demands of participating in paid work and providing care for their dependent members. The social, economic and political contexts within which families do so differ from country to country but an increasing number of governments are being asked to engage, or better engage, with this important area of public policy. What seems like a relatively simple goal – to enable families to better balance care-giving and paid employment – has raised several difficulties and dilemmas for policy makers which have been approached in different ways. This paper aims to identify and critique the nature and development of the means by which legal engagement with work-family reconciliation has, historically, been framed in the European Union. In doing so, and with reference to specific cohorts of workers, we demonstrate how disjointed the strategies are in relation to working carers and argue that the EU is unlikely to provide the legal framework necessary to bring about effective change in this fundamentally important area of social policy.