Pedigree construction and disease confirmation: a pilot study in Wales exploring the role of nonclinical personnel.

Pedigree construction and disease confirmation are the means by which reported family histories are translated into a verified clinical tool informing risk assessment and management decisions by clinical genetics staff. In this study, we hypothesised that pedigree generation data processes do not generally require the clinical expertise of genetic counsellors and that they could be successfully transferred to nonclinical data administrators. We made a pragmatic comparison of two processes of pedigree generation by different personnel from 14 consecutive family history questionnaires containing 88 living and decease affected individuals. The pedigrees generated by the genetic counsellor and the data administrator were compared; discrepancies were quantified and their source determined. The information gathered by the data administrator mirrored that of the genetic counsellors in 89% of cases. Time was saved by permitting direct access to cancer registry and local oncology centre databases. Constructing a pedigree is not always a case of transferring clear-cut data. Decisions need to be made about which cancers to confirm. Notable differences emerged in the number of pieces of information not transferred. Ambiguous information was often interpreted differently, suggesting the need for clinical staff to review pedigrees after their initial plotting by the data administrator. This study demonstrates a good degree of concordance between pedigrees constructed by a nonclinical data administrator and those of experienced genetic counsellors. However, the redirection of all pedigree activity to nonclinical personnel up to the point of risk review is not possible at present.

Analysing spatial trends in referral patterns to cancer genetics services: a preliminary investigation of regional variations in Wales.

This paper discusses spatial trends in referral patterns to a cancer genetics service. It presents a literature review outlining the paucity of existing research, a preliminary analysis at the Unitary Authority level in Wales and advances a programme of further research to be conducted at a more detailed spatial level. The preliminary analysis shows a weak negative relationship between referral rates from primary care and social deprivation by Unitary Authority (Spearman rank correlation coefficient, sigma = -0.38). There is also a weak positive relationship between average settlement size and referral rates (sigma = +0.28), which taken together may indicate that primary care practices in affluent urban areas are more likely to refer than those in poorer rural areas. Future research will be conducted at a finer spatial scale, and will take into account characteristics of primary care practices and the patients being referred, amongst other variables.

Characteristics of child dental neglect: a systematic review.

OBJECTIVE: Neglect of a child's oral health can lead to pain, poor growth and impaired quality of life. In populations where there is a high prevalence of dental caries, the determination of which children are experiencing dental neglect is challenging. This systematic review aims to identify the features of oral neglect in children. METHODS: Fifteen databases spanning 1947-2012 were searched; these were supplemented by hand searching of 4 specialist journals, 5 websites and references of full texts. Included: studies of children 0-18 years with confirmed oral neglect undergoing a standardised dental examination; excluded: physical/sexual abuse. All relevant studies underwent two independent reviews (+/- 3rd review) using standardised critical appraisal. RESULTS: Of 3863 potential studies screened, 83 studies were reviewed and 9 included (representing 1595 children). Features included: failure or delay in seeking dental treatment; failure to comply with/complete treatment; failure to provide basic oral care; co-existent adverse impact on the child e.g. pain and swelling. Two studies developed and implemented 'dental neglect' screening tools with success. The importance of Quality of Life tools to identify impact of neglected dental care are also highlighted. CONCLUSIONS: A small body of literature addresses this topic, using varying definitions of neglect, and standards of oral examination. While failure/delay in seeking care with adverse dental consequences were highlighted, differentiating dental caries from dental neglect is difficult, and there is a paucity of data on precise clinical features to aid in this distinction. CLINICAL SIGNIFICANCE: Diagnosing dental neglect can be challenging, influencing a reluctance to report cases. Published evidence does exist to support these referrals when conditions as above are described, although further quality case control studies defining distinguishing patterns of dental caries would be welcome.

Implementing scientific evidence to improve the quality of Child Protection.

In contrast to other areas of medical practice, there was a lack of a clear, concise and accessible synthesis of scientific literature to aid the recognition and investigation of suspected child abuse, and no national training program or evidence based guidelines for clinicians. The project's aim was to identify the current scientific evidence for the recognition and investigation of suspected child abuse and neglect and to disseminate and introduce this into clinical practice. Since 2003 a comprehensive program of Systematic Reviews of all aspects of physical abuse, emotional abuse, and neglect of children, has been developed. Based on NHS Centre for Reviews and Dissemination standards, methodology was devised and reviewers trained. Dissemination was via peer reviewed publications, a series of leaflets highlighting key points in a Question and Answer format, and a website. To date, 21 systematic reviews have been completed, generating 28 peer reviewed publications, and six leaflets around each theme (eg fractures, bruising). More than 250,000 have been distributed to date. Our website generates more than 10,000 hits monthly. It hosts primary reviews that are updated annually, links to all included studies, publications, and detailed methodology. The reviews have directly informed five national clinical guidelines, and the first evidence based training in Child Maltreatment. Child abuse is every health practitioner's responsibility, and it is vital that the decisions made are evidence based, as it is expected in all other fields of medicine. Although challenging, this project demonstrates that it is possible to conduct high quality systematic reviews in this field. For the first time a clear concise synthesis of up to date scientific evidence is available to all practitioners in a range of accessible formats. This has underpinned high quality national guidance and training programs. It ensures all professionals have the appropriate knowledge base in this difficult and challenging field.

Emotional, behavioral, and developmental features indicative of neglect or emotional abuse in preschool children: a systematic review.

IMPORTANCE: Early intervention for neglect or emotional abuse in preschoolers may mitigate lifelong consequences, yet practitioners lack confidence in recognizing these children. OBJECTIVE: To define the emotional, behavioral, and developmental features of neglect or emotional abuse in preschoolers. EVIDENCE REVIEW: A literature search of 18 databases, 6 websites, and supplementary searching performed from January 1, 1960, to February 1, 2011, identified 22 669 abstracts. Standardized critical appraisal of 164 articles was conducted by 2 independent, trained reviewers. Inclusion criteria were children aged 0 to 6 years with confirmed neglect or emotional abuse who had emotional, behavioral, and developmental features recorded or for whom the carer-child interaction was documented. FINDINGS: Twenty-eight case-control (matched for socioeconomic, educational level, and ethnicity), 1 cross-sectional, and 13 cohort studies were included. Key features in the child included the following: aggression (11 studies) exhibited as angry, disruptive behavior, conduct problems, oppositional behavior, and low ego control; withdrawal or passivity (12 studies), including negative self-esteem, anxious or avoidant behavior, poor emotional knowledge, and difficulties in interpreting emotional expressions in others; developmental delay (17 studies), particularly delayed language, cognitive function, and overall development quotient; poor peer interaction (5 studies), showing poor social interactions, unlikely to act to relieve distress in others; and transition (6 studies) from ambivalent to avoidant insecure attachment pattern and from passive to increasingly aggressive behavior and negative self-representation. Emotional knowledge, cognitive function, and language deteriorate without intervention. Poor sensitivity, hostility, criticism, or disinterest characterize maternal-child interactions. CONCLUSIONS AND RELEVANCE: Preschool children who have been neglected or emotionally abused exhibit a range of serious emotional and behavioral difficulties and adverse mother-child interactions that indicate that these children require prompt evaluation and interventions.

A pilot study of spatial patterns in referrals to a multicentre cancer genetics service.

OBJECTIVES: To analyse spatial and temporal patterns in patients referred to a cancer genetics service in order to monitor service utilization and accessibility. METHODS: Postcodes of patients during a 4-year period were used to examine spatial patterns using a Geographical Information System (GIS). Referral rates were compared visually and statistically to explore yearly variation for administrative areas in Wales. RESULTS: There has been a four-fold increase in actual referrals to the service over the period of study. The variance between unitary authority referral rates has decreased from the inception of the service from an almost ten-fold difference between lowest and highest in year 1 to less than a three-fold difference in year 4. CONCLUSIONS: This study shows the potential of GIS to highlight spatial variations in referral rates across Wales. Although the disparity in referral rates has decreased, trends in referral rates are not consistent. Ongoing research will examine those referral and referrer characteristics affecting uptake.