Dealing with a problem that doesn't exist?:Professional responses to female perpetrated child sexual abuse

Female involvement in sexual offences against children is more common than is generally thought and has serious implications for the long-term emotional and psychological well-being of victims. Drawing on findings from: a comprehensive review of the literature; an overview of relevant literature and legislation; and an electronic survey of Multi-Agency Public Protection Panels; this paper explores the criminal justice response to female sex offending in England, Wales and Northern Ireland. The literature highlights that the way in which professionals identify and respond to child sexual abuse has been shown to be influenced by the gender of the perpetrator. Equally, whilst similar to male sex offending in terms of the intrusiveness and seriousness of the abuse, some aspects of female sex offending can cause particular problems for professionals. The fact that some sexual abuse can be disguised as childcare can make it difficult for professionals to identify this type of abuse whilst high rates of co-offending bring additional difficulties in determining the degree of female involvement and assigning responsibility. The survey findings indicate that risk assessment tools for female sex offenders is a key area requiring development and point towards small inconsistencies in the current practice of risk assessing females in the community. The survey also identifies the lack of treatment programmes for this group of offenders as well as drawing attention to the need for national policies and procedures, staff training and the identification of areas of good practice. Increased discussion and debate about how best to work with this group of sex offenders is also required. Copyright © 2007 John Wiley & Sons, Ltd.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information is invaluable for an accurate clinical diagnosis of RP due to its high genetic and clinical heterogeneity. Using a gene capture panel that covers 163 of the currently known retinal disease genes, including 48 RP genes, we performed a comprehensive molecular screening in a collection of 123 RP unsettled probands from a wide variety of ethnic backgrounds, including 113 unrelated simplex and 10 autosomal recessive RP (arRP) cases. As a result, 61 mutations were identified in 45 probands, including 38 novel pathogenic alleles. Interestingly, we observed that phenotype and genotype were not in full agreement in 21 probands. Among them, eight probands were clinically reassessed, resulting in refinement of clinical diagnoses for six of these patients. Finally, recessive mutations in CLN3 were identified in five retinal degeneration patients, including four RP probands and one cone-rod dystrophy patient, suggesting that CLN3 is a novel non-syndromic retinal disease gene. Collectively, our results underscore that, due to the high molecular and clinical heterogeneity of RP, comprehensive screening of all retinal disease genes is effective in identifying novel pathogenic mutations and provides an opportunity to discover new genotype-phenotype correlations. Information gained from this genetic screening will directly aid in patient diagnosis, prognosis, and treatment, as well as allowing appropriate family planning and counseling.