Editorial: Medical genetics, expert medical testimony, and suspected child abuse cases: a call for evidence-based standards in clinic and the courtroom : Current Opinion in Pediatrics

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Editorial: Medical genetics, expert medical testimony, and suspected child abuse cases: a call for evidence-based standards in clinic and the courtroom

Shur, Natashaa; Robin, Nathaniel H.b

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Current Opinion in Pediatrics 33(1):p 1-2, February 2021. | DOI: 10.1097/MOP.0000000000000987
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Physicians sometimes transition from the clinic into the courtroom and become involved in medical–legal cases as witnesses. A fact witness is called upon by the court because of knowledge about what happened in a particular case; an expert witness is enabled to provide opinion and expected to assist the court to understand the complex technical knowledge that lies at the heart of his/her testimony. Expert witnesses may be entitled to compensation. Just like in medical practice involving patients, doctors who serve as both fact and expert medical witnesses are expected, regardless of any personal incentive for testifying, to represent biomedical science and standards of care [1,2]. While all medical fields are incredibly complex, medical genetics – with evolving rules regarding diagnosis and testing – often presents especially confounding and unfamiliar topics to the lay public, juries, and even judges. As pediatricians and medical geneticists, we are particularly concerned when expert witnesses provide scientifically unsubstantiated opinions in cases that involve children, including suspected child abuse cases. On the part of expert witnesses, scientifically sound explanations versus unfounded hypotheses can influence outcomes in civil proceedings, which determine a child's placement, and criminal proceedings, which determine judgment on the perpetrators. These outcomes can make a difference between life and death for the child at hand.

It is for that reason we feel the need to address a recently published article in Current Opinion in Pediatrics. In the article by Charoenngam et al.[3] entitled, ‘Diagnosis and management of pediatric metabolic bone disease associated with skeletal fragility’, the authors present erroneous information regarding the differential and evaluation of infants with fractures. Specifically, the statement ‘Genetic disorders of collagen-elastin, such as osteogenesis imperfecta, Ehlers–Danlos syndrome (EDS), and Marfan syndrome are associated with skeletal fragility as well as the classic metaphyseal lesions, which can be misdiagnosed as caused by nonaccidental trauma/child abuse’ [3] represents one of many theories without medical validity that are espoused by a small handful of physicians to proffer alternative explanations for child abuse [4–6]. Theories that are not substantiated by medical evidence build the foundation for testimony that ‘lacks scientific validity and support by professional societies but could nonetheless come across as equally credible in the courtroom setting’ [4–6].

In the hospital and clinic, the multidisciplinary team that evaluates cases of suspected child abuse is composed of additional medical specialists and providers often including radiology, general pediatrics, and when indicated, hematology, neurology, and medical genetics. The team follows a thorough and comprehensive process to exclude alternative causes [7–9]. Dr David Chadwick, a pioneer in child abuse, championed the concept that making accurate diagnoses of child abuse was akin to treating cancer. In child abuse cases, a missed diagnosis potentially returns victims to perpetrators just as missing an oncologic diagnosis could have fatal consequences. On the other hand, overdiagnoses of child abuse could erroneously separate children from loving caregivers just as using chemotherapy unnecessarily causes devastating harm. International consensus and evidence-based guidelines are based on decades of evidence and carefully considered to prevent either of these tragic outcomes [7–9]. Physicians on the front lines must represent standard of care, whether considering a case of coronavirus disease (COVID), asthma, strep throat, a seizure, and/or a case of unexplained fractures or head trauma.

In the accompanying review, a panel including board-certified geneticists, a pediatric radiologist, and a child protection pediatrician review the proper approach to considering genetic disorders that are part of the differential for unexplained fractures and/or subdural hematoma, and retinal hemorrhage.

  • (1) Osteogenesis imperfecta (on the differential for fractures)
  • (2) Menkes disease (on the differential for fractures and subdural hematomas)
  • (3) Glutaric acidemia type 1 (on the differential for subdural hematomas)

In addition, we explain why the following conditions do not mimic child abuse and should not be considered part of the differential for unexplained fractures, subdural hematomas, and/or retinal hemorrhage.

  • (1) Hypermobility EDS
  • (2) Classical EDS
  • (3) Vascular EDS
  • (4) Galactosemia
  • (5) Vitamin D deficiency without radiographic evidence of rickets

While we do not cover every single disorder considered in the differential of suspected child abuse, we provide a framework for differentiating between unsubstantiated theories and evidence-based explanations based on multidisciplinary pediatric evaluations and consensus guidelines.

As physicians, when we transition from the courtroom to the clinic, it may be surprising to see testimony that is not scientifically valid used to negate medical diagnoses of child abuse. Some statements made in the article by Charoenngam et al.[3] lack scientific validation and therefore may be used to repudiate a diagnosis of child abuse. This review is intended to provide scientifically valid information for general pediatricians, pediatric specialists, and child abuse pediatricians who may need to counter contentions primarily regarding genetic disorders that are not supported by current medical evidence.

During this unprecedented time in history of the COVID-19 pandemic, it has been recognized around the world that children are now at heightened risk of abuse, neglect, exploitation, and violence [10]. As geneticists, we want to provide the most factually based and scientifically valid approach to the role of genetic disorders as explanations for physical findings such as fractures and subdural hematoma. The accompanying article by a panel of pediatric experts provides explicit, evidence-based guidance regarding the differential diagnosis of signs and symptoms commonly encountered in child abuse cases. As physicians, we are reminded daily and often tragically that accurate medical information, whether in the clinic or the courtroom, is of vital importance to ensuring the safety and well being of the children and families whom we are privileged to serve.


We would like to thank Dr Robert Marion for his support, our colleagues, and the patients and families we serve.

Financial support and sponsorship

The current work did not receive financial funding.

Conflicts of interest

N.S. was compensated in the last 3 years for travel expenses only in one case where she served as an expert witness. She does not have conflicts of interest to report.


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