Ingrid Hein

October 02, 2017

Flawed theories are being used in the courtroom to make the science that supports a diagnosis of physical child abuse look debatable, when, in fact, "there is no significant controversy about the diagnosis of physical abuse and abusive head trauma in clinical medicine," according to an opinion piece published online recently in JAMA.

"When defense witnesses have decided to cite opinions that are not real diagnoses, or when they cherry pick information by looking at half a child's findings and ignoring the other half, it's upsetting," said John Leventhal, MD, from the Yale School of Medicine in New Haven, Connecticut, who cowrote the piece with George Edwards, MD, from the University of Texas in Austin.

This is not how physicians work.

"This is not how physicians work," Dr Leventhal told Medscape Medical News. "We try to understand symptoms, look at physical findings, do laboratory tests, and come up with a specific scientific diagnosis."

"The defense experts are seeing things that are not present on the x-rays. They are seeing things that aren't there," he said. "That's not good medicine."

When a child presents at a hospital or medical clinic with bruising, broken bones, head trauma, or other physical evidence that doesn't correspond with the explanation given, other possibilities are investigated. Tests are performed to check for medical explanations, and the purposeful infliction of physical harm — child abuse — is considered.

Blood and urine tests can rule out health conditions that can cause weak bones, such as rickets, and testing for a genetic mutation can confirm brittle bone disease.

A Multitiered Approach to Diagnosis

By the time a child is referred to a child abuse specialist, "we're dealing with a very small subset of the population," said James Metz, MD, from the Seattle Children's Hospital.

Sorting out the evidence can be a daunting task. "A radiologist alone cannot make a diagnosis of metabolic bone disease or rickets, even though sometimes it's pretty cut and dried," he told Medscape Medical News.

Dr Metz and his team use a multitiered approach to gather facts, which includes consulting with radiology, looking at lab work, examining the patient, and taking a history from family members.

A suspicion of abuse can lead to further investigation, during which a child might be separated from his or her parents. The situation can become incredibly contentious, he added.

Over the past couple of years, there has been an increase in the documentation of medical conditions that mimic child abuse, and the time required to make a diagnosis has shortened, Dr Metz reported.

"New imaging technology has helped us considerably to identify injuries, and has given us a different understanding of injuries we do see often," he explained. For example, "bucket handle fractures and corner fractures — very specific to child abuse — are sometimes misidentified as rickets."

At the recent American Academy of Pediatrics 2017 National Conference, pediatricians met to discuss child abuse and neglect and address discrepant interpretations of findings with child welfare and the courts.

"There has been incredible work done to distinguish abuse," Dr Leventhal pointed out, citing research by Paul Kleinman, MD, from Boston Children's Hospital, and his colleagues (Radiology. 2015;275:810-821).

Frequency of Medical Mimics

In a prospective multicenter cohort of 2890 children evaluated for physical abuse, Dr Metz and his colleagues identified noncutaneous medical mimics in 137 (4.7%) cases (Arch Dis Child. 2014;99:817-823).

Of the mimics identified, the team classified 28% as metabolic bone disease, 20% as hematologic or vascular, 16% as infectious, 10% as skeletal dysplasia, 9% as neurologic, 5% as oncologic, and 2% as gastrointestinal. For the 10% of mimics in the "other" category, classifications included congenital sacral swelling, urticaria pigmentosa, and hyponatremia.

The most common noncutaneous mimic was osteomalacia or osteoporosis, followed by vitamin D deficiency.

However, "identification of a mimic does not exclude concurrent abuse," Dr Metz and his colleagues write. In their cohort, six (7.4%) children were assigned a high level of abuse concern despite the identification of a mimic, and 17 (20.1%) were assigned an intermediate level.

Vigorous testing is the only way to rule out abuse or mimics and, in the current climate of controversy, child abuse specialists have become more cautious.

"We have doctors testing for things even when they are certain it's abuse, just because they want to be sure the testing has been done in case it gets to court," Dr Metz explained.

Improvements in radiology, genetic testing, and laboratory tests have made it easier to identify signs that a child might be suffering from a disease that causes bruising, fractures, or other physical injuries that present as abuse, said Cindy Christian, MD, professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania in Philadelphia.

Sometimes injuries are not easily diagnosed.

"Sometimes injuries are not easily diagnosed," she told Medscape Medical News. And "sometimes diseases look like an injury."

In a recent literature review, Dr Christian and her coauthor— pediatric radiologist Lisa States, MD, also from the Perelman School of Medicine — highlight common and uncommon diseases that can mimic physical and sexual abuse (AJR Am J Roentgenol. 2017;208:982-990).

The pair describes a 7-week-old boy born with hip contractures who developed left leg swelling related to a fracture. Although clinicians first thought there might be abuse, genetic testing revealed mutations in the FKBP65 gene consistent with Bruck syndrome, which is characterized by the combination of arthrogryposis multiplex congenita and osteogenesis imperfecta.

They also describe an 11-month-old boy whose femur was fractured as the result of a minor trauma. The boy was exclusively breast-fed without vitamin D supplementation. A laboratory evaluation revealed findings consistent with vitamin D–deficient rickets: 25-hydroxy vitamin D below 6 ng/mL, intact parathyroid hormone of 1291 pg/mL, and alkaline phosphatase of 914 U/L.

But the diagnosis does not always go smoothly.

"I've seen radiologists and other physicians who think something is child abuse when it's a disease, and I've seen cases where they think it's a disease and its child abuse," Dr Christian reported.

The literature is "replete with examples of medical diseases that mimic abuse," write Drs Christian and States, who explain that "physicians have a responsibility to children and families to identify signs of abuse, think broadly and objectively about differential diagnosis, and challenge unsubstantiated theories of causation to meet the historical medical standard of primum non nocere."

Unsubstantiated Theories of Causation Disputed

For example, the validity of long-time theories about the relation between shaken baby syndrome and subdural hematoma and retinal hemorrhages was refuted in a review by Steven Gabaeff, MD, an emergency medicine physician in Sacramento, California (West J Emerg Med. 2011;12:144-158).

Without evidence of neck damage, an incident of shaken baby syndrome is unlikely to have taken place, he asserts.

But in a stern response, the methodology on which that review was based was challenged by Christopher Greeley, MD, from the University of Texas Health Science Center at Houston (West J Emerg Med. 2012;13:82-89).

"I fear the piece by Dr Gabaeff contributes little to the discussion and merely obfuscates the truth," Dr Greeley writes.

A more recent response casts doubt on the quality of evidence in a Swedish systemic review (Acta Paediatr. 2017;106:1021-1027) and in a 2016 report from the Swedish Agency for Health Technology Assessment and Assessment of Social Services (SBU) that looks at shaken baby syndrome.

The systemic review questioning shaken baby syndrome "raises major medical concern," and "may already have disrupted efforts to protect vulnerable children," write Dawn Saunders, MD, from the Great Ormond Street Hospital NHS Trust for Children, Institute of Child Health, in London, and her colleagues (Pediatr Radiol. 2017;47:1386-1389).

"Recent efforts to cast unwarranted doubt on the medical fact that the diagnostic triad (subdural hematoma, cerebral edema, and retinal hemorrhages) can reliably be associated with abusive head trauma may have catastrophic consequences. It should be noted that in contrast to the inexplicably narrow focus of the SBU panel, pediatric radiologists consider shaking as a possible — but not the only — form of physical abuse. As physicians, we do not diagnose shaking, we diagnose abuse," they explain.

Dr Metz compared the deliberation over shaken baby syndrome with the one on climate change.

"A large majority of the scientific community has an overwhelming opinion about the science, while a very few loud people object, raising doubts in people's minds," he explained.

It is helpful to have a debate that pushes science and looks at where science falls short, "but when the science is irrefutable, or well documented, the debate does it an injustice," he said.

Still, it does not take much to cast doubt on abuse.

The diagnosis of abuse is a process that has to be tackled with the help of a professional team, with an open mind for any diagnosis, using all available tools. But, Dr Christian stressed, there is no 100% guarantee.

"People would like us to diagnose child abuse with 100% sensitivity and specificity," she said. "But there is no disease diagnosis process in which there's perfect sensitivity and perfect specificity" — that's the reality.

Extra Caution, Tests, to Rule out Mimics

Because "the concept of mimics can be raised in court in a way that is disingenuous, it can make something that is abuse sound like it is not abuse to a nonmedical audience," said Daniel Lindberg, MD, from the Kempe Center for the Prevention and Treatment of Child Abuse at the University of Colorado Medical School in Aurora.

The defense of, for example, "temporary brittle bone disease" is a classic example of something bogus, he explained. "There's no scientific evidence for that."

Rickets is another disease that comes up often, but the dominant view among pediatric radiologists is that if there is no radiographic evidence, it is unlikely that fractures are related to undiagnosed rickets, said Dr Lindberg.

There is an increasing need to be extra cautious when ruling out disease in the face of strong evidence for child abuse. "There's certainly a heightened standard to show evidence that something is not, for example, osteogenesis imperfecta," he said. "Child abuse pediatricians have told me they feel pressured to order tests for diseases that are not being considered by any reasonable physician only to address arguments that might be made in court."

But things are changing, and it is becoming easier to diagnose mimics, according to Dr Christian.

"We're always improving on radiologic testing," she explained. "MRIs are getting more accurate at identifying changes in the brain, and our ability to do skeletal surveys gives us additional information."

Genetic testing is the way of the future for medical diagnoses. "There are biomarkers that investigators have been researching to identify victims of abuse early," she said. "The future is bright."

American Academy of Pediatrics (AAP) 2017 National Conference and Exhibition: H2115 Section on Child Abuse and Neglect Program. Presented September 17, 2017.

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