Background The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intellectual disability (collectively ‘treatable IDs’). Our aim is to update the 2012 review on treatable IDs and App to capture the advances made in the identification of new IMDs along with increased pathophysiological insights catalyzing therapeutic development and implementation. Methods Two independent reviewers queried PubMed, OMIM and Orphanet databases to reassess all previously included disorders and therapies and to identify all reports on Treatable IDs published between 2012 and 2021. These were included if listed in the International Classification of IMDs (ICIMD) and presenting with ID as a major feature, and if published evidence for a therapeutic intervention improving ID primary and/or secondary outcomes is available. Data on clinical symptoms, diagnostic testing, treatment strategies, effects on outcomes, and evidence levels were extracted and evaluated by the reviewers and external experts. The generated knowledge was translated into a diagnostic algorithm and updated version of the App with novel features. Results Our review identified 116 treatable IDs (139 genes), of which 44 newly identified, belonging to 17 ICIMD categories. The most frequent therapeutic interventions were nutritional, pharmacological and vitamin and trace element supplementation. Evidence level varied from 1 to 3 (trials, cohort studies, case–control studies) for 19% and 4–5 (case-report, expert opinion) for 81% of treatments. Reported effects included improvement of clinical deterioration in 62%, neurological manifestations in 47% and development in 37%. Conclusion The number of treatable IDs identified by our literature review increased by more than one-third in eight years. Although there has been much attention to gene-based and enzyme replacement therapy, the majority of effective treatments are nutritional, which are relatively affordable, widely available and (often) surprisingly effective. We present a diagnostic algorithm (adjustable to local resources and expertise) and the updated App to facilitate a swift and accurate workup, prioritizing treatable IDs. Our digital tool is freely available as Native and Web App (www.treatable-id.org) with several novel features. Our Treatable ID endeavor contributes to the Treatabolome and International Rare Diseases Research Consortium goals, enabling clinicians to deliver rapid evidence-based interventions to our rare disease patients.

Only a small proportion of all paediatric fractures is caused by child abuse or neglect, especially in highly prevalent long bone fractures. It can be difficult to differentiate abusive fractures from non-abusive fractures. This article focuses on femoral fractures in young children. Based on three cases, this article presents a forensic evidence-based approach to differentiate between accidental and non-accidental causes of femoral fractures. We describe three cases of young children who were presented to the emergency department because of a suspected femur fracture. Although in all cases, the fracture had a similar location and appearance, the clinical history and developmental stage of the child led to three different conclusions. In the first two cases, an accidental mechanism was a plausible conclusion, although in the second case, neglect of parental supervision was the cause for concern. In the third case, a non-accidental injury was diagnosed and appropriate legal prosecution followed. Any doctor treating children should always be aware of the possibility of child abuse and neglect in children with injuries, especially in young and non-mobile children presenting with an unknown trauma mechanism. If a suspicion of child abuse or neglect arises, a thorough diagnostic work-up should be performed, including a full skeletal survey according to the guidelines of the Royal College of Radiologists and the Royal College of Paediatrics and Child Health. In order to make a good assessment, the radiologist reviewing the skeletal survey needs access to all relevant clinical and social information.

Child maltreatment is a major social problem with many adverse consequences, and a substantial number of maltreated children are not identified by health care professionals. In 2010, in order to improve the identification of maltreated children in hospitals, a new hospital-based policy was developed in Amsterdam, The Netherlands. This policy was adapted from another policy that was developed in The Hague, the Netherlands, in 2007. In the new Amsterdam policy, all adults presenting at the emergency department due to domestic violence, substance abuse, and/or a suicide attempt are asked whether they have any children in their care. If this is the case, parents are urged to visit the outpatient pediatric department together with all of their children. During this visit, problems are evaluated and voluntary referrals can be arranged to different care organizations. If parents refuse to cooperate, their children are reported to the Dutch Child Abuse Counseling and Reporting Centre. The two aims of this study are to describe (1) characteristics of the identified families and (2) the referrals made to different voluntary and involuntary care organizations during the first 2 years after implementation of the policy. Data were collected from medical records. One hundred and six children from 60 households were included, of which 68 children because their mother was a victim of domestic violence. Referrals to care organizations were arranged for 99 children, of which 67 on a voluntary basis. The Amsterdam policy seems successful in arranging voluntary support for the majority of identified children.

According to existing data, the prevalence of a history of CSA in pediatric patients with CAP is lower than in adult patients; however, no well-designed studies have been conducted in children. Future research is required to determine a reliable prevalence of CSA in children with CAP.