Associations between paediatric fatigue and eating behaviours.

Background: In adults, poor sleep quality is associated with increased obesogenic eating behaviours; less is known about this relationship in youth. The objectives of this study were to assess the strength of association between fatigue-related quality of life (QoL) and eating behaviours among youth and to describe the associations in participants with percent body fat (%BF) above and below the 90th percentile for sex and age.

Methods: Caregiver-reported measures of fatigue (Pediatric QoL Multidimensional Fatigue Scale) and eating behaviours (Child Eating Behaviour Questionnaire) were obtained from participants aged 8-17 years.

PMM2-CDG caused by uniparental disomy: Case report and literature review.

Background: Phosphomannomutase 2 deficiency PMM2-CDG) affects glycosylation pathways such as the N-glycosylation pathway, resulting in loss of function of multiple proteins. This disorder causes multisystem involvement with a high variability among patients. PMM2-CDG is an autosomal recessive disorder, which can be caused by inheriting two pathogenic variants, de novo mutations or uniparental disomy.