Challenges in the evaluation for possible abuse: Presentations of congenital bleeding disorders in childhood
ABSTRACT To describe children with congenital bleeding disorders that present in a manner that may be concerning for non-accidental trauma (NAT), and to evaluate associations with disease and demographic characteristics.
Ten year retrospective chart review of subjects at a Hemophilia Treatment Center. Demographic, historical, and disease characteristics were collected. Findings were compared to a priori criteria for bleeding/bruising that is concerning for abuse.
Twenty-nine (15.3%) of the 189 children in the study had an initial presentation that was concerning for NAT. Of those 29, 75.9% were <5 years of age, 44.8% had von Willebrand disease (vWD), 51.8% had hemophilia, and 48.3% had a family history of a named bleeding disorder. Children from 9 months through 5 years of age were more likely than older children to present with findings concerning for abuse (OR 3.32, 1.21-9.10). No association was detected between presentation concerning for abuse and gender (OR 1.51, 0.6-3.77). Hemophilia was no more likely than vWD to present in a manner that was concerning for abuse (OR 0.7, 0.31-1.58). No children presented with patterned bruising.
Children with bleeding disorders may present with bruising/bleeding that is clinically highly suggestive of NAT.
Infants and young mobile children who have non-patterned bruising or bleeding as the only symptom concerning for abuse require an evaluation that includes testing for hemophilia and vWD. Children who have laboratory testing that indicates the presence of a bleeding disorder, but have clinical findings concerning for abuse, may benefit from a collaborative evaluation including a pediatric hematologist and a child abuse pediatrician.
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- "With research carried out in the fields of transcriptomics and proteomics, opportunities are emerging to develop and add to the already existing genomic platforms. Evidence of physical abuse is often left of the skin of victims, with bruising found to be the most common form of injury (Dye et al., 2008; Pierce et al., 2010; Jackson et al., 2012). The ability to accurately and reliably determine the age of a bruise, in living individuals, is currently lacking. "
ABSTRACT: The Canadian National DNA Database was created in 1998 and first used in the mid-2000. Under management by the RCMP, the National DNA Data Bank of Canada offers each year satisfactory reported statistics for its use and efficiency. Built on two indexes (convicted offenders and crime scene indexes), the database not only provides increasing matches to offenders or linked traces to the various police forces of the nation, but offers a memory repository for cold cases. Despite these achievements, the data bank is now facing new challenges that will inevitably defy the way the database is currently used. These arise from the increasing power of detection of DNA traces, the diversity of demands from police investigators and the growth of the bank itself. Examples of new requirements from the database now include familial searches, low-copy-number analyses and the correct interpretation of mixed samples. This paper aims to develop on the original way set in Québec to address some of these challenges. Nevertheless, analytic and technological advances will inevitably lead to the introduction of new technologies in forensic laboratories, such as single cell sequencing, phenotyping, and proteomics. Furthermore, it will not only request a new holistic/global approach of the forensic molecular biology sciences (through academia and a more investigative role in the laboratory), but also new legal developments. Far from being exhaustive, this paper highlights some of the current use of the database, its potential for the future, and opportunity to expand as a result of recent technological developments in molecular biology, including, but not limited to DNA identification.Frontiers in Genetics 11/2013; 4:249. DOI:10.3389/fgene.2013.00249
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ABSTRACT: Bruising or bleeding in a child can raise the concern for child abuse. Assessing whether the findings are the result of trauma and/or whether the child has a bleeding disorder is critical. Many bleeding disorders are rare, and not every child with bruising/bleeding concerning for abuse requires an evaluation for bleeding disorders. In some instances, however, bleeding disorders can present in a manner similar to child abuse. The history and clinical evaluation can be used to determine the necessity of an evaluation for a possible bleeding disorder, and prevalence and known clinical presentations of individual bleeding disorders can be used to guide the extent of the laboratory testing. This clinical report provides guidance to pediatricians and other clinicians regarding the evaluation for bleeding disorders when child abuse is suspected.PEDIATRICS 03/2013; 131(4). DOI:10.1542/peds.2013-0195 · 5.30 Impact Factor
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ABSTRACT: Bruises commonly occur in children and are most often the result of a minor accidental injury. However, bruises can also signal an underlying medical illness or an inflicted injury (maltreatment). Although bruising is the most common manifestation of child physical maltreatment, knowing when to be concerned about maltreatment and how to assess bruises in this context can be challenging for clinicians. Based on current literature and published recommendations, this practice point will help clinicians to distinguish between accidental and inflicted bruises, to evaluate and manage bruising in the context of suspected child maltreatment, and to evaluate for an underlying medical predisposition to bruising.Paediatrics & child health 10/2013; 18(8):433-42. · 1.55 Impact Factor