Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center

Abstract

Background: Evaluations of suspected non-accidental trauma (NAT) often include consultation with genetic and metabolic teams to assess patients for rare genetic conditions that can mimic or exacerbate child abuse. Diagnoses that may be questioned during court proceedings include osteogenesis imperfecta (OI) and glutaric aciduria type 1 (GA1). Currently there are no official society guidelines for the genetic or metabolic workup of suspected NAT.

Objective: To standardize consult recommendations for suspected NAT through collaboration between the Genetics and Genomics Division and the Child Protection Team (CPT).

Participants and settings: Children evaluated for suspected NAT at a single pediatric referral center.

Methods: A year of inpatient consult requests for suspected NAT to the genetics division were reviewed. The most common indications for consult were fractures and subdural hematoma. Consult recommendations for similar indications varied between providers. A standard operating procedure (SOP) with specific recommendations for suspected NAT consults for fractures, intracranial hemorrhage, and other indications was created based on expert reviews and other relevant literature. A questionnaire assessing division practice patterns for these consults was distributed both pre (n = 17) and post-introduction of the SOP (n = 11).

Results: Adherence to the SOP and impact on suspected NAT consult recommendations were assessed at 18 months after SOP introduction. Consult recommendations were in line with the SOP for 7/11 consults pre-intervention and 6/7 consults post-intervention. Providers were more likely to report feeling extremely or very confident they were using evidence-based medicine for NAT consults post-intervention.

Keywords: Genetics; Glutaric aciduria type 1; Non-accidental trauma; Osteogenesis imperfecta; Quality improvement.