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Background: The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. Methods: Information on clinical and laboratory data at initial full assessment and during the course of the disease, treatment, outcome and quality of life was obtained in a survey-based, retrospective study from physicians caring for patients with the CblE or CblG defect. In addition, data on enzyme studies in cultured skin fibroblasts and mutations in the MTRR and MTR gene were analysed. Results: In 11 cblE and 13 cblG patients, failure to thrive, feeding problems, delayed milestones, muscular hypotonia, cognitive impairment and macrocytic anaemia were the most frequent symptoms. Delay in diagnosis depended on age at first symptom and clinical pattern at presentation and correlated significantly with impaired communication abilities at follow-up. Eighteen/22 patients presented with brain atrophy or white matter disease. Biochemical response to treatment with variable combinations of betaine, cobalamin, folate was significant. The overall course was considered improving (n = 8) or stable (n = 15) in 96% of patients, however the average number of CNS symptoms per patient increased significantly over time and 16 of 23 patients were classified as developmentally delayed or severely handicapped. In vitro enzyme analysis data showed no correlation with outcome. Predominantly private mutations were detected and no genotype- phenotype correlations evident. Conclusions: The majority of patients with the cblE and cblG defect show limited clinical response to treatment and have neurocognitive impairment.

Clinical practice guidelines, such as those focusing on traumatic stress treatment, can play an important role in promoting inclusion and equity. Based on a review of 14 international trauma treatment guidance documents that explicitly mentioned children, we reflect on two areas in which these guidelines can become more inclusive and equitable; a) representation of children's cultural background and b) children's opportunity to have their voice heard. While a few guidelines mentioned that treatment should be tailored to children's cultural needs, there was little guidance on how this could be done. Moreover, there still appears to be a strong white Western lens across all stages of producing and evaluating the international evidence base. The available documentation also suggested that no young people under the age of 18 had been consulted in the guideline development processes. To contribute to inclusion and equity, we suggest five elements for future national guideline development endeavours. Promoting research and guideline development with, by, and for currently under-represented communities should be a high priority for our field. Our national, regional and global professional associations are in an excellent position to (continue to) stimulate conversation and action in this domain.

This study assessed posttraumatic stress disorder (PTSD) and behavior problems in young children with burns and examined individual, injury-related, and family-related determinants. Seventy-six children, aged 12-49 months, were assessed at an average of 15 months after their burn injury, using parents as informants on the posttraumatic stress disorder semi-structured interview and observational record for infants and young children and the child behavior checklist. Ten children (13.2%) met the alternative criteria for PTSD proposed by Scheeringa et al. Number of PTSD symptoms were associated with family-related variables (maternal PTSD, quality of family relations). Compared to community norms, children with burns showed less externalizing behavior problems, and internalizing behavior problems were within the normal range. Overall, behavioral adjustment was associated with the quality of family relations (cohesion, expressiveness, conflicts). Whereas behavior was found to be normal in young children with burns, this study provides evidence for a substantial prevalence of PTSD

OBJECTIVE: This study assessed health-related quality of life (HRQOL) and posttraumatic stress disorder (PTSD) in pediatric burn survivors and examined associations between PTSD and HRQOL. METHODS: Forty-three burn survivors, ages 7-16 years, were interviewed at an average of 4.4 years after their accident using the Clinician-Administered PTSD Scale for Children and Adolescents and the TNO-AZL Child Quality of Life Questionnaire. RESULTS: Eight children (18.6%) met DSM-IV criteria for current PTSD. While most dimensions of HRQOL were within normal limits, social functioning was impaired. Severity of PTSD was significantly associated with physical, cognitive, and emotional dimensions of HRQOL. Children with PTSD reported an impaired overall HRQOL and limited physical (e.g., more bodily complaints) and emotional functioning (e.g., more feelings of sadness). CONCLUSIONS: This study provides tentative evidence for a considerably high prevalence of PTSD in pediatric burn survivors and for a negative association between PTSD and HRQOL