An altered gut microbiota composition has recently been linked to obesity. The principal aim of this study is to investigate and compare the gut microbiota composition in obese and lean children. Secondly, associations between analysed gut bacterial species, dietary compounds, energy intake and biochemical blood parameters are evaluated.

Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine–Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are known to be a typical cause of very early onset hereditary neuropathies. In addition, mutations in several other dominant and recessive genes for Charcot–Marie–Tooth disease may lead to similar phenotypes. To estimate mutation frequencies and to gain detailed insights into the genetic and phenotypic heterogeneity of early onset hereditary neuropathies, we selected a heterogeneous cohort of 77 unrelated patients who presented with symptoms of peripheral neuropathy within the first year of life. The majority of these patients were isolated in their family. We performed systematic mutation screening by means of direct sequencing of the coding regions of 11 genes: MFN2, PMP22, MPZ, EGR2, GDAP1, NEFL, FGD4, MTMR2, PRX, SBF2 and SH3TC2. In addition, screening for the Charcot–Marie–Tooth type 1A duplication on chromosome 17p11.2-12 was performed. In 35 patients (45%), mutations were identified. Mutations in MPZ, PMP22 and EGR2 were found most frequently in patients presenting with early hypotonia and breathing difficulties. The recessive genes FGD4, PRX, MTMR2, SBF2, SH3TC2 and GDAP1 were mutated in patients presenting with early foot deformities and variable delay in motor milestones after an uneventful neonatal period. Several patients displaying congenital foot deformities but an otherwise normal early development carried the Charcot–Marie–Tooth type 1A duplication. This study clearly illustrates the genetic heterogeneity underlying hereditary neuropathies with infantile onset.

This study was designed to validate the Dutch Physical Activity Questionnaires for Children (PAQ-C) and Adolescents (PAQ-A). After adjustment of the original Canadian PAQ-C and PAQ-A (i.e. translation/back-translation and evaluation by expert committee), content validity of both PAQs was assessed and calculated using item-level (I-CVI) and scale-level (S-CVI) content validity indexes. Inter-item and inter-rater reliability of 196 PAQ-C and 95 PAQ-A filled in by both children or adolescents and their parent, were evaluated. Inter-item reliability was calculated by Cronbach’s alpha (α) and inter-rater reliability was examined by percent observed agreement and weighted kappa (κ). Concurrent validity of PAQ-A was examined in a subsample of 28 obese and 16 normal-weight children by comparing it with concurrently measured physical activity using a maximal cardiopulmonary exercise test for the assessment of peak oxygen uptake (VO2 peak). For both PAQs, I-CVI ranged 0.67-1.00. S-CVI was 0.89 for PAQ-C and 0.90 for PAQ-A. A total of 192 PAQ-C and 94 PAQ-A were fully completed by both child and parent. Cronbach’s α was 0.777 for PAQ-C and 0.758 for PAQ-A. Percent agreement ranged 59.9-74.0% for PAQ-C and 51.1-77.7% for PAQ-A, and weighted κ ranged 0.48-0.69 for PAQ-C and 0.51-0.68 for PAQ-A. The correlation between total PAQ-A score and VO2 peak – corrected for age, gender, height and weight – was 0.516 (p = 0.001). Both PAQs have an excellent content validity, an acceptable inter-item reliability and a moderate to good strength of inter-rater agreement. In addition, total PAQ-A score showed a moderate positive correlation with VO2 peak. Both PAQs have an acceptable to good reliability and validity, however, further validity testing is recommended to provide a more complete assessment of both PAQs.