Role of Cross-Sectional Imaging in Pediatric Inflammatory Bowel Disease.

BACKGROUND: The association between radiological remission and natural history of disease in children with inflammatory bowel diseases (IBD) is poorly known. AIMS: (i) To assess the correlation between cross-sectional imaging (CSI) (ultrasound and magnetic resonance imaging) and clinical, biomarker and endoscopic disease activity; (ii) to evaluate the impact of radiological activity on the occurrence of complications in pediatric patients with IBD. METHODS: A retrospective study including pediatric patients with IBD and radiological follow-up of at least one year was conducted between 2003 and 2019 at the Nancy University Hospital. RESULTS: In total, 118 patients (66 Crohn's disease (CD) and 52 ulcerative colitis (UC)) were included. Median follow-up duration was 5.2 years (range: 1.1-15.4). Seventeen (25.8%) patients with CD and 7 (13.5%) patients with UC achieved and maintained radiological remission until last follow-up. No IBD patient achieving radiological remission experienced complications or relapse. In patients not achieving radiologic remission, complications and surgery occurred in 13/49 (26.5%) and 8/49 (16.3%) patients with CD and in 5/45 (11.1%) and 5 (11.1%) subjects with UC. Among patients with CD, the association for remission status between radiological and endoscopic assessment was excellent (Cramer's V test (V) = 0.50), and moderate between radiological and either clinical (V = 0.30) or biochemical (V = 0.33) assessments. In UC, the association for remission status between radiological and either endoscopic or clinical assessments were weak (V = 0.19 and V = 0.20 respectively), and moderate (V = 0.23) between radiological and biochemical assessments. CONCLUSION: CSI may replace endoscopic monitoring in pediatric CD. Radiological remission status predicts long-term disease outcomes.

Clinical Remission and Psychological Management are Major Issues for the Quality of Life in Pediatric Crohn Disease.

OBJECTIVES: Crohn disease (CD) can affect patient's quality of life (QOL) with physical, social, and psychological impacts. This study aimed to investigate the QOL of children with CD and its relationship with patient and disease characteristics. METHODS: Children ages from 10 to 17 years with diagnosed CD for more than 6 months were eligible to this cross-sectional study conducted in 35 French pediatric centers. QOL was assessed by the IMPACT-III questionnaire. Patient and disease characteristics were collected. RESULTS: A total of 218 children (42% of girls) were included at a median age of 14 years (interquartile range [IQR]: 13--16). Median duration of CD was 3.2 years (IQR: 1.7-5.1) and 63% of children were in clinical remission assessed by wPCDAI. Total IMPACT-III score was 62.8 (±11.0). The lowest score was in "emotional functioning" subdomain (mean: 42.8 ±â€Š11.2). Clinical remission was the main independent factor associated with QOL of children with CD (5.74 points higher compared with those "with active disease", 95% confidence interval [CI] 2.77--8.70, P < 0.001). Age of patient at the evaluation was found negatively correlated with QOL (-0.76 per year, 95% CI: -1.47 to -0.06, P = 0.009). Presence of psychological disorders was associated with a lower QOL (-9.6 points lower to those without, 95% CI: -13.34 to -5.86, P < 0.0001). Total IMPACT-III and its subdomains scores were not related to sex, disease duration, or treatments. CONCLUSIONS: These results not only confirm that clinical remission is a major issue for the QOL of patients, but also highlights the importance of psychological care.

Cognitive Abilities of Children With Neurological and Liver Forms of Wilson Disease.

Cognitive impairment in adult patients experiencing Wilson disease is now more clearly described, even in liver forms of the disease. Although this condition can appear during childhood, the cognitive abilities of children have not yet been reported in a substantial case series. This retrospective study included 21 children with Wilson disease who had undergone general cognitive assessment. The results argue in favor of a poor working memory capacity in the liver form of the disease, and more extensive cognitive impairments in its neurological form. Extensive neuropsychological investigations on all children experiencing Wilson disease are thus required.

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

BACKGROUND: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) has recently emerged as an efficient diagnostic tool. The objective of this study is to evaluate the use of NGS in children with cholestasis. METHODS: Children presenting cholestasis were included between 2015 and 2020. Molecular sequencing was performed by targeted capture of a panel of 34 genes involved in cholestasis and jaundice. Patients were classified into three categories: certain diagnosis; suggested diagnosis (when genotype was consistent with phenotype for conditions without any available OMIM or ORPHANET-number); uncertain diagnosis (when clinical and para-clinical findings were not consistent enough with molecular findings). RESULTS: A certain diagnosis was established in 169 patients among the 602 included (28.1%). Molecular studies led to a suggested diagnosis in 40 patients (6.6%) and to an uncertain diagnosis in 21 patients (3.5%). In 372 children (61.7%), no molecular defect was identified. CONCLUSIONS: NGS is a useful diagnostic tool in pediatric cholestasis, providing a certain diagnosis in 28.1% of the patients included in this study. In the remaining patients, especially those with variants of uncertain significance, the imputability of the variants requires further investigations.