Posts

x-ray of a fracture

Genetic disorders rarely mimic child abuse

x-rays of fractures

In suspected child abuse cases, pediatric specialists are often called for clinical consultations or subpoenaed to courtrooms to discuss unexplained fractures and hemorrhage. During routine clinical practice, Children’s National Hospital geneticists, child abuse pediatricians and radiologists use a multidisciplinary, stepwise approach that differentiates genetic disorders from cases of suspected child abuse. These teams provide a clear process for when clinical and radiological review suffices versus cases when judicious use of genetic testing and biochemical testing should be considered.

Every year, approximately 675,000 children suffer abuse or neglect, and at least 1,700 die from abuse — one of the leading causes of childhood morbidity and mortality nationwide. When these regional cases reach the courtroom, Children’s National pediatricians often serve as clinician-educators and expert witnesses. According to Children’s National experts, Dr. Hinds and Dr. Shalaby-Rana, clinicians must share the best available medical practices in both the hospital and courtroom. Unfortunately, in some cases around the country, a handful of expert medical witnesses provide unique and unsubstantiated opinions, sometimes claiming the presence of a rare genetic disorder as a cause of fracture or hemorrhage, when this has not been diagnosed by mainstream genetics specialists.

“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,” said Natasha Shur, M.D., medical geneticist at Children’s National, and Nathaniel Robin, M.D., professor and clinical genetics director at the University of Alabama in an editorial published in Current Opinion in Pediatrics.

Tanya Hinds, M.D., a child abuse pediatrician at Children’s National, works on behalf of children to provide the best and most comprehensive work-up in cases of unexplained fractures or hemorrhage. As a board-certified child abuse pediatrician, she is responsible for implementing the evidence-based practice guidelines of the American Academy of Pediatrics and other similar societies. Dr. Hinds mentioned that it is possible to use medical history, physical examination and diagnostic testing to differentiate traumatic causes of fractures and subdural hematomas from genetic causes, a belief she states is held by the vast majority of child serving clinicians.

“In cases of suspected child abuse, a multidisciplinary group of clinicians at Children’s National routinely provides comprehensive and top-rate care and consider alternative explanations for fractures,” said Eglal Shalaby-Rana, M.D., a radiologist at Children’s National who has partnered with the hospital’s Child and Adolescent Protection Center team on these challenging cases since 1991. “A multidisciplinary team is crucial to the evaluation and often includes additional specialists such as pediatric radiology, trauma surgery, hematology and in some cases genetics.”

Further, these clinician-educators and researchers at Children’s National call for increased publication and use of consensus guidelines such as the consensus statement on abusive head trauma published in Pediatric Radiology in 2018. “Consensus guidelines synthesize the best available medical evidence and should be the basis for both clinical practice and education offered in the courtroom,” said Drs. Shur, Hinds and Shalaby-Rana.

Distinguishing child abuse from genetic disorders

Drs. Hinds, Shalaby-Rana and Shur have served as expert witnesses and in turn wanted to come together to help develop frameworks that share scientifically sound information with peers who might encounter spurious arguments in courtrooms regarding genetic disorders as an explanation for physical abuse and inflicted fractures. Their 2021 literature review, published in Current Opinion in Pediatrics, addresses some of these issues.

To help distinguish child physical abuse from a genetic disorder, Drs. Shur, Hinds and Shalaby-Rana worked as a multidisciplinary team to highlight best practices in six instances when genetic disorders were raised as explanations for inflicted fractures or hemorrhage, including Elhers-Danlos syndrome (EDS), osteogenesis imperfecta (OI), Menkes Disease and Glutaric Acidemia type I. In some cases, these explanations could be reasonable but should be diagnosed using routine clinical and radiological review, and when indicated, genetic and biochemical testing.

For instance, EDS is a diagnosis that is sometimes erroneously used to explain multiple fractures in cases of suspected physical abuse and can be misused in courtrooms. The most common EDS type is hypermobile EDS, often found in late adolescence or early adulthood. In some cases, babies erroneously receive hypermobility exams, or clinicians perform hypermobility assessments on parents of children with unexplained fractures — neither practice is indicated. Instead, the Children’s National team points out that children should receive a medical evaluation using the standard guidelines set by the American Academic of Pediatrics, American College of Radiology and other professional societies.

Dr. Shur also collaborated with radiologists at Boston Children’s Hospital in a related review published in Pediatric Radiology. There, George et al. addressed the clinical and molecular diagnosis criteria for EDS to help radiologists prevent misdiagnosis and support clinicians when seeing patients with multiple fractures.

“It is disturbing that the unsubstantiated EDS infant bone fragility hypothesis continues to be advanced in civil and criminal child abuse proceedings when fractures are not part of the diagnosis criteria for EDS,” said George et al.

The clinicians noted that the Beighton score, which helps diagnose hypermobile EDS, is not intended for children younger than 8 years old. Additionally, since the score provides insufficient data, other EDS features must be present, such as skin findings and connective tissue abnormalities.

OI, known as ‘‘brittle bone disease,’’ is a group of disorders that rarely present only with unexplained fractures. The researchers emphasize that infants and children with mild OI do not present exclusively with multiple fractures, which are specific to physical abuse such as multiple, bilateral rib fractures and classic metaphyseal lesions. Drs. Shur, Hinds and Shalaby-Rana share that pediatric specialists could overcome the diagnostic challenges between OI and child abuse through the inclusion of a genetic team in some cases, during the medical evaluation while also considering various criteria, such as family history, physical examination and laboratory findings. Molecular testing may be required in some instances, but it cannot substitute traditional clinical and radiology evaluations, according to these clinician-researchers.

Similarly, while Menkes disease can present with intracranial hemorrhage and fractures like child physical abuse, there are other distinguishing characteristics unique to Menkes disease, such as hair and facial dysmorphism. In a third related case-review published in Pediatric Radiology, Shur, Hinds and Shalaby-Rana et al. emphasize that diagnostic difficulties may arises when a multidisciplinary evaluation is omitted. They call upon all clinicians to provide ethical testimony in civil or criminal proceedings and to continue to utilize a multidisciplinary approach during daily clinical practice.

Irresponsible testimony and predatory journals

According to George et al., in collaboration with Dr. Shur, there are flawed publications on EDS associated with infant bone fragility that do not follow the gold standard of the scientific community. They believe this hypothesis must be rejected by experts in the field of pediatric imaging to safeguard the scientific integrity of the discipline. The lack of scientific design, peer review process and transparency causes negative consequences in the courtroom and threatens the proper adjudication of cases of suspected child physical abuse.

“Irresponsible testimony increasingly enters medico-legal proceedings dealing with allegations of child abuse, and so-called expert witnesses regularly cite these deeply flawed publications — in addition to misquoting the medical literature, loosely interpreting medical findings, presenting fictitious findings, and excluding salient and widely accepted facts from consideration,” said George et al.

In these pieces of literature, our Children’s National multidisciplinary team members reviewed the best available evidence and their collective decades of patient experience to highlight standard processes, which differentiate child physical abuse as a cause of fractures and hemorrhage from rare disorders. Rare does not mean mysterious, and with education and a multidisciplinary approach, every child can receive the best possible medical work-up and care, according to Drs. Shur, Hinds and Shalaby-Rana. They urge all physicians to share only mainstream clinical medicine in the courtroom to help ensure the best possible social outcomes for children and their families.

red flags for irresponsible testimony

3D Illustration Concept of Human Urinary System

Single diuretic renogram can predict surgery risk

3D Illustration Concept of Human Urinary System

In a new study published in the Journal of Pediatric Urology, Aaron Krill, M.D., urologist at Children’s National Hospital and leading author, shows that halftime from a single initial diuretic renogram in children with antenatally detected UPJO is predictive not only of worsening future drainage, but also of future surgical repair (pyeloplasty).

While spontaneous resolution of antenatally detected kidney obstruction, also known as ureteropelvic junction obstruction (UPJO), is relatively common, it can take several years and require frequent surveillance ultrasounds and diuretic renograms before patients reach a clinical outcome.

In a new study published in the Journal of Pediatric Urology, Aaron Krill, M.D., urologist at Children’s National Hospital and leading author, shows that halftime (T1/2) from a single initial diuretic renogram in children with antenatally detected UPJO is predictive not only of worsening future drainage, but also of future surgical repair (pyeloplasty).

The findings of the paper show promising results that will help to further subdivide the indeterminate drainage range and will help practitioners identify those children at increased risk for worsening drainage and future surgery.

“Among infants with UPJO, 52% to 79% can be expected to undergo spontaneous improvement,” said Dr. Krill.

Initial nonoperative management has become the standard of care for cases with indeterminate drainage patterns with preserved differential renal function (DRF). Diuretic renography has traditionally been the gold standard for diagnosis and surveillance of this condition. Identification of patients with very good drainage who can safely be discharged and those with very poor drainage who require early surgical repair has never been difficult. However, patients with indeterminate drainage have posed a unique diagnostic and therapeutic problem. Previously published ranges for indeterminate drainage were either too wide or too narrow to be clinically useful.

In the study, recent data shows a five-year surgery-free survival probability for patients with t1/2 of 5-20, 21-40 and 41-60 minutes to be: 79.7%, 46.7% and 33.3%. This suggests that patients with t1/2 of more than 21 minutes are at moderate to high risk of requiring surgery within the first five years of life while those with t1/2 20 minutes or less are at relatively low risk.

“This would allow us to concentrate our efforts appropriately on those who are at high risk of progressing to surgery and minimize the burden of testing and that of radiation exposure for children who are at low risk and likely to improve spontaneously,” Dr. Krill added.

Researchers identified patients younger than 18 months at presentation with unilateral, isolated moderate to severe hydronephrosis who underwent diuresis renography from 2000-2016. This group was sub-divided into three T1/2 intervals: 5-20, 21-40 and 41-60 minutes. Endpoints were pyeloplasty and pyeloplasty free survival. Indications for surgery were loss of DRF, worsening T1/2, family preference and/or pain.

“Being told that your newborn has an obstructed kidney and may require surgery in the future is typically a very stressful event for families,” Dr. Krill said. “Now after only a single diuretic renogram, we can provide families with accurate probability estimates of their child’s lifetime risk of surgery and risk of surgery within their first five years. This should allow us to appropriately set expectations and customize our surveillance routine for each patient.”

For decades, Children’s National has been working to refine and standardize diuretic renography. Some accomplishments over the years include establishing the safety of the test in infants, verifying its diagnostic utility, identifying new drainage parameters, and coupling it with machine learning to improve accuracy. This most recent manuscript capitalizes on a large database spanning 20 years of the team’s clinical experience to further improve the ability to predict who will need surgical repair and better counsel our patients.

Other authors include Briony K. Varda, M.D., M.P.H., Nicholas A. Freidberg, M.D., Sohel Rana, M.B.B.S., M.P.H., Eglal Shalaby-Rana, M.D., Bruce M. Sprague and Hans G. Pohl, M.D.