Responding to the changing burden of disease for children and adolescents in modern Britain: the RCPCH State of Child Health Report 2017

The Royal College of Paediatrics and Child Health published the State of Child Health (SOCH) 2017, summarising the changing burden of disease in UK children and young people (CYP) over the past 20 years. These data show clearly that the three great challenges of our time for CYP are obesity, mental health problems and the impact of poverty and inequality on health. In this review, we summarise key findings from SOCH 2017 and outline key responses the UK must make to improve health and well-being for its CYP

Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.

The ribosome is an evolutionarily conserved organelle essential for cellular function. Ribosome construction requires assembly of approximately 80 different ribosomal proteins (RPs) and four different species of rRNA. As RPs co-assemble into one multi-subunit complex, mutation of the genes that encode RPs might be expected to give rise to phenocopies, in which the same phenotype is associated with loss-of-function of each individual gene. However, a more complex picture is emerging in which, in addition to a group of shared phenotypes, diverse RP gene-specific phenotypes are observed. Here we report the first two mouse mutations (Rps7(Mtu) and Rps7(Zma)) of ribosomal protein S7 (Rps7), a gene that has been implicated in Diamond-Blackfan anemia. Rps7 disruption results in decreased body size, abnormal skeletal morphology, mid-ventral white spotting, and eye malformations. These phenotypes are reported in other murine RP mutants and, as demonstrated for some other RP mutations, are ameliorated by Trp53 deficiency. Interestingly, Rps7 mutants have additional overt malformations of the developing central nervous system and deficits in working memory, phenotypes that are not reported in murine or human RP gene mutants. Conversely, Rps7 mouse mutants show no anemia or hyperpigmentation, phenotypes associated with mutation of human RPS7 and other murine RPs, respectively. We provide two novel RP mouse models and expand the repertoire of potential phenotypes that should be examined in RP mutants to further explore the concept of RP gene-specific phenotypes

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.

Clinical reports of cases with deletions in chromosome 6p are relatively rare. We present a detailed study by fluorescent in situ hybridisation (FISH) of six new cases with distinct but overlapping 6p deletions involving the 6p24-pter chromosomal segment. Chromosomal breakpoints in individual cases were investigated using a large panel of probes previously mapped and characterised in our laboratory to cover the distal region of 6p. These cases have allowed refinement of genotype-phenotype correlations and strongly suggest a gene involved in regulating the development of hearing is localised within 6p25. There is also evidence for one or more loci involved in heart, skeletal and craniofacial development in the 6p24-p25 region. Furthermore, the Dandy-Walker malformation is associated with deletion of 6p24-pter

Exploration of friendship experiences, before and after illness onset in females with Anorexia Nervosa: A qualitative study

BACKGROUND:Difficulties with social relationships have been implicated in both the development and maintenance of Anorexia Nervosa (AN) but the friendship experiences of individuals with AN have not been explored in depth. METHOD:Ten adults with AN took part in a semi-structured interview about their friendship experiences both before and since the onset of their illness. RESULTS:Five principle themes were identified through thematic analysis: Social Concern; Impact of AN; Social Connectedness; Inflexibility and Preferred Social Activity. Difficulties with friendship were present prior to the onset of AN in all cases, with participants experiencing anxiety in relation to various aspects of their friendships. Participants described mixed experiences of how their AN has affected their friendships but most participants described having less contact with their friends since becoming unwell. CONCLUSION:This research highlights the role that social difficulties may play in the development of AN, whilst also emphasising the importance of addressing problems with friendship in the course of inpatient treatment