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.

Stimulation of multiple mitogen-activated protein kinase sub-families by oxidative stress and phosphorylation of the small heat shock protein, HSP25/27, in neonatal ventricular myocytes.

We investigated the activation of three subfamilies of mitogen-activated protein kinases (MAPKs), namely the stress-activated protein kinases/c-Jun N-terminal kinases (SAPKs/JNKs), the extracellularly responsive kinases (ERKs) and p38-MAPK, by oxidative stress as exemplified by H2O2 in primary cultures of neonatal rat ventricular myocytes. The 46 and 54 kDa species of SAPKs/JNKs were activated 5- and 10-fold, respectively, by 0.1 mM H2O2 (the maximally effective concentration). Maximal activation occurred at 15-30 min, but was still detectable after 2 h. Both ERK1 and ERK2 were activated 16-fold by 0.1 mM H2O2 with a similar time course to the SAPKs/JNKs, and this was comparable with their activation by 1 microM PMA, the most powerful activator of ERKs that we have so far identified in these cells. The activation of ERKs by H2O2 was inhibited by PD98059, which inhibits the activation of MAPK (or ERK) kinases, and by the protein kinase C (PKC) inhibitor, GF109203X. ERK activation was also inhibited by down-regulation of PMA-sensitive PKC isoforms. p38-MAPK was activated by 0.1 mM H2O2 as shown by an increase in its phosphorylation. However, maximal phosphorylation (activation) was more rapid (<5 min) than for the SAPKs/JNKs or the ERKs. We studied the downstream consequences of p38-MAPK activation by examining activation of MAPK-activated protein kinase 2 (MAPKAPK2) and phosphorylation of the MAPKAPK2 substrate, the small heat shock protein HSP25/27. As with p38-MAPK, MAPKAPK2 was rapidly activated (maximal within 5 min) by 0.1 mM H2O2. This activation was abolished by 10 microM SB203580, a selective inhibitor of certain p38-MAPK isoforms. The phosphorylation of HSP25/27 rapidly followed activation of MAPKAPK2 and was also inhibited by SB203580. Phosphorylation of HSP25/27 was associated with a decrease in its aggregation state. These data indicate that oxidative stress is a powerful activator of all three MAPK subfamilies in neonatal rat ventricular myocytes. Activation of all three MAPKs has been associated with the development of the hypertrophic phenotype. However, stimulation of p38-MAPK and the consequent phosphorylation of HSP25/27 may also be important in cardioprotection.

Conflicting language ideologies and contradictory language practices in Singaporean bilingual families

Informed by family language policy (FLP) as the theoretical framework, I illustrate in this paper how language ideologies can be incongruous and language policies can be conflicting through three multilingual families in Singapore representing three major ethnic groups – Chinese, Malay and Indian. By studying their family language audits, observing their language practices, and engaging in conversations about their language ideologies, I look at what these families do and do not do and what they claim to do and not to do. Data were collected over a period of 6 months with more than 700 minutes of recording of actual interactions. Analysis of the data reveals that language ideologies are ‘power-inflected’ and tend to become the source of educational and social tensions which in turn shape family language practices. In Singapore these tensions are illustrated by the bilingual policy recognising mother tongues (MTs) and English as official languages, and its educational policy establishing English as the medium of instruction. The view of English as having instrumental values and MTs as having cultural functions reveals that language choices and practices in family domains are value-laden in everyday interactions and explicitly negotiated and established through FLP.

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

We present clinical and molecular evaluation from a large cohort of patients with Stickler syndrome: 78 individuals from 21 unrelated Brazilian families. The patients were selected in a Hospital with a craniofacial dysmorphology assistance service and clinical diagnosis was based on the presence of cleft palate associated to facial and ocular anomalies of Stickler syndrome. Analysis of COL2A1 gene revealed 9 novel and 4 previously described pathogenic mutations. Except for the mutation c.556G>T (p.Gly186X), all the others were located in the triple helical domain. We did not find genotype/phenotype correlation in relation to type and position of the mutation in the triple helical domain. However, a significantly higher proportion of myopia in patients with mutations located in this domain was observed in relation to those with the mutation in the non-tripe helical domain (c.556G>T; P < 0.04). A trend towards a higher prevalence of glaucoma, although not statistically significant, was observed in the presence of the mutation c.556G>T. It is possible. that this mutation alters the splicing of the mRNA instead of only creating a premature stop codon and therefore it can lead to protein products of different ocular effects. One novel DNA variation (c.1266+7G>C) occurs near a splice site and it was observed to co-segregate with the phenotype in one of the two families with this DNA variation. As in silico analysis predicted that the c.1266+7G>C DNA variation can affect the efficiency of the splicing, we still cannot rule it out as non-pathogenic. Our study also showed that ascertainment through cleft palate associated to other craniofacial signs can be very efficient for identification of Stickler syndrome patients. Still, high frequency of familial cases and high frequency of underdevelopment of distal lateral tibial epiphyses observed in our patients suggested that the inclusion of this information can improve the clinical diagnosis of Stickler syndrome. (C) 2008 Elsevier Masson SAS. All rights reserved.

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

HTR1B and HTR2C in autism spectrum disorders in Brazilian families

Autism spectrum disorders (ASD) is a group of behaviorally defined neuro developmental disabilities characterized by multiple genetic etiologies and a complex presentation. Several studies suggest the involvement of the serotonin system in the development of ASD, but only few have investigated serotonin receptors. We have performed a case-control and a family-based study with 9 polymorphisms mapped to two serotonin receptor genes (HTR1B and HTR2C) in 252 Brazilian male ASD patients of European ancestry. These analyses showed evidence of undertransmission of the HTR1B haplotypes containing alleles -161G and -261A at HTR1B gene to ASD (P=0.003), but no involvement of HTR2C to the predisposition to this disease. Considering the relatively low level of statistical significance and the power of our sample, further studies are required to confirm the association of these serotonin-related genes and ASD. (C) 2008 Elsevier B.V. All rights reserved.

Famílias com desenvolvimento funcional e disfuncional : validação das escalas diagnósticas faces iii, beavers-timberlawn e escala global do funcionamento internacional (garf)

Realizou-se um estudo transversal de aplicação de três escalas americanas diagnósticas do funcionamento familiar (FACES III, Beavers-Timberlawn e GARF) em trinta e uma famílias, examinadas na clínica, visando sua validação, em nosso meio, em relação ao padrão-ouro da avaliação clínica, feita através de entrevista familiar semi-estruturada. Também estudou-se o comportamento da escala auto-respondida FACES III em cento e duas famílias da comunidade. Os resultados em relaçõa ao FACES III mostraram uma correlação linear positiva, mas baixa, entre a coesão familiar e risco para doença mental. Não apareceu correlação estatisticamente significativa em relação à adaptabilidade. Os achados confirmam os resultados publicados recentemente na literatura de que o FACES III é um instrumento que não traduz o modelo circumplexo de funcionamento familiar de Olson. As escalas Beavers-Timberlawn e GARF tiveram como resultado correlação positiva e alta com a avaliação clínica, demonstrando grande utilidade na formulação e classificação do diagnóstico do funcionamento familiar.

Caracterização de famílias de crianças em situação de violência intrafamiliar

Trata-se de um estudo descritivo do tipo exploratório que utilizou uma abordagem combinada quantitativa e qualitativa para caracterizar as famílias de crianças em situação de violência intrafamiliar, atendidas pela “Equipe de Proteção às Crianças Vítimas de Maus-tratos e Violência Sexual”, no Hospital de Clínicas de Porto Alegre (HCPA), no ano de 1999. A coleta de dados foi realizada por um roteiro estruturado elaborado pela pesquisadora, constituído de quatro dimensões pré-estabelecidos – sócioeconômica, estrutura e funcionamento familiar, situação atual do abuso do contexto familiar e história pregressa da família – preenchido através dos prontuários e protocolos das crianças atendidas no HCPA. Os dados quantificáveis foram analisados com auxílio da estatística descritiva, e os qualitativos pelo método de análise de conteúdo, segundo Bardin (2000). Assim formaram sete categorias: organização familiar, relacionamento familiar, percepção dos adultos sobre a criança vítima de violência, justificativas de utilização da violência, ações maternas frente à violência, motivos da procura do serviço de saúde e a trajetória da família na instituição hospitalar. A maioria das famílias pesquisadas possuíam precária inserção sócioeconômica com baixo nível de escolaridade, desempregadas, inseridas no mercado formal e/ou informal. Eram predominantes da região central de Porto Alegre, demonstrando uma diversidade de arranjos e fragilidade nas relações familiares, com confusão de papéis e disputa de autoridade. Algumas famílias registraram ausência da figura paterna Características importantes constatadas entre os adultos: progenitores adolescentes, jovens, vivendo responsabilidade de adulto, o elevado padrão do uso abusivo de drogas, presença de aleitamento materno e gravidez não desejada. Houve um predomínio de negligência em relação a outras formas de violência praticadas, sendo que o ato violento foi cometido de forma intencional, mas o agressor não apresentava justificativa para o fato. A mãe configurou-se como a maior agressora e, simultaneamente, a principal cuidadora da criança. Nesse estudo, a criança mais atingida foi a do sexo masculino, raça branca, evidenciando lesão e apresentando longo período de convivência com o agressor que sempre era alguém muito próximo a ela. As famílias envolvidas procuraram atendimento de forma espontânea, mas a queixa de violência estava implícita. A pesquisa permitiu contextualizar a violência como social e histórica, presente em larga escala na sociedade brasileira uma sociedade desigual na qual se pratica violência dentro da família contra a criança, legitimando uma forma de poder estruturante nas relações sociais e na interação com fatores individuais econômicos e culturais. Assim, verificou-se a fundamental importância da atuação do enfermeiro no enfrentamento da problemática questão da violência intrafamiliar contra a criança.

Resiliência e vulnerabilidade em famílias em situação de risco

Esta tese consiste em dois estudos qualitativos, que investigam os processos de resiliência e vulnerabilidade em três famílias - uma nuclear, uma reconstituída e uma uniparental, que vivem em condições adversas. Foram incluídas famílias com diferentes configurações com o objetivo de analisar a influência deste aspecto para os processos de resiliência e vulnerabilidade. Fatores de risco e proteção em nível intra e extrafamiliar foram analisados, com base na teoria dos sistemas ecológicos. A condição de risco foi determinada a priori a partir da situação de pobreza destas famílias e da violência existente na comunidade na qual elas vivem. O objetivo do primeiro estudo foi apresentar o método de inserção ecológica e os dados obtidos por meio dele, analisando o contexto no qual vivem as famílias. A inserção ecológica consistiu no acompanhamento das famílias, por quatro anos, pela equipe de pesquisa na comunidade, e incluiu observações, conversas informais e entrevistas formais com os membros das famílias. O objetivo do segundo estudo foi analisar os processos de vulnerabilidade e resiliência familiar através do método de estudo de caso com as três famílias, nos quais foram examinados diversos aspectos, como práticas educativas, qualidade da parentalidade, experiência dos pais em suas famílias de origem, apoio conjugal e social. A análise dos dois estudos permitiu identificar diversos fatores de risco e proteção, internos e externos a cada uma das famílias. A pobreza e a violência existente na comunidade tendem a potencializar os efeitos negativos associados com fatores de risco internos à família, como a violência doméstica, o alcoolismo e a depressão materna. No entanto, na ausência destes fatores, a pobreza e a violência não atuam como risco para estas famílias, uma vez que parecem ser moderadas pela presença de fatores de proteção, tanto internos como externos à família, como as características pessoais dos seus membros, a coesão familiar e o apoio conjugal/social. A interação destes fatores de proteção contribui para a promoção da resiliência, tanto através de um processo compartilhado pela família como um todo, como através de processos individuais. A inserção da equipe de pesquisa na comunidade e nas histórias das famílias possibilitou uma intervenção, pois foi possível compartilhar das relações familiares, conhecer as dificuldades enfrentadas por elas no cotidiano e promover reflexão e insight, que proporcionaram bem-estar, apoio emocional e instrumental e melhoria da qualidade de vida. Tal inserção garantiu a validade ecológica da tese.