Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule

It has come to our attention that across the country and around the world the flawed Ehlers–Danlos syndrome (EDS) infant bone fragility theory continues to be allowed by defense witnesses in civil and criminal proceedings in child abuse cases. Dr Colin Paterson places this theory into the correct historical context in his original letter published in this issue in this journal. In this response, a group of geneticists, radiologists, and child protection pediatricians outlines the reasons why this flawed theory should not be employed as a defense in the courtroom. The paradigm of flawed fracture theories is indeed called temporary brittle bone disease (TBBD) (Mendelson, 2005). This “diagnosis” was made in infants who presented with classic fractures highly suggestive of child abuse, including multiple rib fractures and classic metaphyseal lesions. The fractures were termed “temporary” because they ceased when the child was taken into protective custody. This TBBD theory has been repudiated by the AAP Committee on Child Abuse and Neglect (Jenny, 2006), and multiple professional societies (Mendelson, 2005; Servaes et al., 2016). It is important to distinguish TBBD from metabolic bone disease (MBD), a comorbidity in preterm, low birth weight, and chronically ill neonates estimated to occur in 16–40% of very low birth weight (<1,500 g) and extremely low birth weight (<1,000 g) infants. MBD is associated with decreased bone mineral content and fractures most commonly seen in the neonatal intensive care unit. Early nutritional intervention can reduce both the prevalence and the severity of osteopenia seen in MBD (Rehman & Narchi, 2015). TBBD, on the other hand, is characterized by multiple unexplained fractures commonly seen in term babies (Paterson & Monk, 2014). Dr Paterson was the leading proponent of TBBD, and he was “struck off” by the General Medical Counsel in England in 2004 for providing scientifically unfounded testimony in court (Dyer, 2004).

Nonetheless, Dr Paterson continues to promote the TBBD concept, including the idea that infants with findings consistent with TBBD upon his examinations had, as he says, “at least one parent with a Beighton score of 4 or more, conventionally regarded as indicative of the hypermobility syndrome… We draw attention to the likely autosomal dominant inheritance of this risk factor for TBBD as well as the potential value of assessing parental joint laxity in evaluating children with fractures.” (Paterson & Mole, 2012). Paterson is actually describing joint hypermobility syndrome (JHS), and many people with hypermobile joints are asymptomatic. About 30% of the general population has a Beighton score of 4, so there is a 60% chance that one of two parents would have this score (Tinkle et al., 2017). Historically, the unsubstantiated EDS infant bone fragility theory has grown from the discredited root of TBBD.

To explain further why the EDS infant bone fragility theory is false, it is necessary to review the background on EDS and its current diagnostic criteria, the distinction of EDS from osteogenesis imperfecta (OI), the principle that adult studies should not be extrapolated onto infants, and the idea that combining two flawed theories (EDS and low vitamin D) does not create one correct theory. In these cases, two wrongs do not make a right.

There are actually 13 types of EDS, but the types alluded to in this flawed theory include primarily hypermobile EDS and classic EDS (cEDS), so this discussion focuses on those types. EDS most commonly comes to our medical attention in late childhood or early adulthood. Joint laxity, just one of the criteria for EDS, is often confirmed by a score of five or more on the 9-point Beighton score, a scale designed to assess children greater than 5 years of age and adults. However, flexibility in and of itself is not a genetic syndrome. Swimmers, dancers, gymnasts, and many people in the general population tend to be flexible. Athletes tend to be flexible. Every person has a flexible friend or relative who does party tricks. A clinical diagnosis of EDS does not rely on flexibility alone but also takes into account physical examination findings, a family history, and a history of chronic joint dislocations and pain (Malfait et al., 2017). Signs on physical examination may include soft, velvety, or stretchy skin, easy skin scarring, and stretch marks in unusual places. Fractures are not mentioned or even considered in the diagnostic criteria, because they are not a hallmark or characteristic of EDS (Levy, 2004; Tinkle et al., 2017; Castori et al., 2017). In the work-up for unexplained fractures, clinical evaluation and/or genetic testing for EDS are not indicated in infants or their parents (Byers et al., 2006; Christian & Committee on Child Abuse and Neglect, 2015; Pepin & Byers, 2015).

EDS differs from OI, which is commonly known as brittle bone disease. OI is a connective tissue disorder that can be associated with fractures, but with careful medical work-up, and review of clinical history, laboratory data, family history, physical examination, and radiological evidence, OI can be differentiated from child abuse (Pereira, 2015; Greely & Donaruma-Kwoh, 2015; Zarate et al., 2016). In the work-up of unexplained fractures, ruling out OI and consideration of genetic testing, when appropriate, is the standard of care (Byers et al., 2006; Pepin & Byers, 2015). There is no currently recognized subtype of EDS/OI (Malfait et al., 2017), because with greater genetics knowledge, we are now aware that earlier reported cases were actually OI or other disorders and can be more properly categorized and diagnosed today (Pepin & Byers, 2015).

Some studies of adult EDS patients suggest a risk of low bone density and occult vertebral or other fractures later in life. For example, a study of 50 Caucasian adults between the ages of 30 and 50 years showed reduced bone density and increased risk of vertebral fractures (Eller-Vainicher et al., 2016). In another study of 23 Caucasian adults, the mean age of 39, there was a report of decreased bone density and greater fracture recall in patients with EDS (Dolan, Arden, Grahame, & Spector, 1998). This makes sense, since adult patients with chronic joint pain may have lower functional status, decreased mobility, and multiple medications. Further, proprioceptive deficits and orthostasis significantly increase fall risk in those with EDS and those fractures (e.g., ankle, foot, wrist, elbow) can be explained by those falls (Castori, 2015). When corrected for activity, fracture risk and rate were not significantly different from the control population. None of those fractures were unexplained nor did they mimic child abuse. Infants and adults are very different in terms of growth, movement, and nutritional needs. It is clearly inappropriate to take studies performed in adults and extrapolate them to infants. Most babies are flexible, and they do not break with normal handling.

The only published case series suggesting that infants with EDS are fragile (Holick, Hossein-Nezhad, & Tabatabaei, 2017) consists entirely of infants previously diagnosed as victims of abuse and does not contain accurate scientific methods, data, legitimate peer-review, or conclusions. However, the false claim that a child has “EDS/OI/EDS and vitamin D deficiency/infantile rickets associated with fragility fractures in infants that can be misinterpreted as … child abuse.” (Holick et al., 2017) can be convincing to credulous judges and juries in the courtroom, allowing perpetrators of abuse to escape consequences and placing abused children at further risk. Holick offers no scientific evidence of bone fragility or vitamin D status to support his claims. In addition, the erroneous association ignores current diagnostic criteria, and confuses EDS with JHS.

In a recent retrospective, population-based, age-controlled study of fracture incidence in EDS, no fractures were identified in patients with possible EDS diagnoses in the first year of life (Rolfes et al., 2019). This study supports decades of clinical genetics and child abuse experience and practice.

In summary, neither hypermobility EDS nor cEDS cause infantile fractures (Tinkle et al., 2017). Low vitamin D levels without association of radiographic evidence of infantile rickets does not cause fractures (Servaes et al., 2016). The flawed theories that EDS or EDS combined with low vitamin D cause “fragility fractures” (Holick et al., 2017) are not evidence-based, and these diagnoses appear to have stemmed from courtroom defense arguments rather than clinical purposes and practice. Such unfounded theories should not be the basis of expert testimony (Paul, Narang, & Committee on Medical Liability and Risk Management, 2017; Tinkle, 2019).

The flawed EDS infant bone fragility theory has had quite a heyday in the courts, potentially changing the outcomes in many civil and criminal proceedings for likely a decade. Such unfounded theories potentially place the infant back into an abusive environment. Enough is enough already. Institutions, medical boards, and professional societies need to support faculty who follow professional guidelines and to uphold standards—otherwise, their letterheads, faculty titles, and licenses lose credibility. If those certificates and accolades do not stand for scientific accuracy and integrity, then what is their value? Do faculty appointments at prestigious institutions and state or other licenses just grant the right to practice, or does that right come with responsibility for academic truth, at least when under oath? Most importantly, these professionals, licensing boards, institutions, and so forth should hold the safety of children and the rule of law in the highest regard.

Colleagues from the United Kingdom and around the world should always feel free to question dogma, do more research, and challenge current guidelines and standard of care. Peer-reviewed journals and professional societies provide excellent forums for open discussion, and this discussion need not be censored. There should never be repercussions for academic debate, and we wholeheartedly believe in academic freedom. However, demonstrably flawed, unsubstantiated theories should not be presented in civil or criminal proceedings as though they reflect current clinical practice or standards of care. The role of the expert witness in the courtroom is to provide unbiased expert testimony based on standard and accepted practice (Paul et al., 2017). On the contrary, “irresponsible testimony” is testimony that “lacks scientific validity and support by professional societies but could nonetheless come across as equally credible in the courtroom setting” (Leventhal & Edwards, 2017). A call to end irresponsible testimony is a call to ensure integrity and fairness in the legal process.

CONFLICT OF INTEREST

The authors declare no conflict of interest.

DATA AVAILABILITY STATEMENT

Data sharing is not applicable to this article as no new data were created or analyzed in this study.