BackgroundIsolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. Complex I comprises 44 structural subunits with at least 10 ancillary proteins; mutations in 29 of these have so far been associated with mitochondrial disease but there are limited genotype-phenotype correlations to guide clinicians to the correct genetic diagnosis.MethodsPatients were analysed by whole-exome sequencing, targeted capture or candidate gene sequencing. Clinical phenotyping of affected individuals was performed.ResultsWe identified a cohort of 10 patients from 8 families (7 families are of unrelated Irish ancestry) all of whom have short stature (<9th centile) and similar facial features including a prominent forehead, smooth philtrum and deep-set eyes associated with a recurrent homozygous c.64T>C, p.Trp22Arg NDUFB3 variant. Two sibs presented with primary short stature without obvious metabolic dysfunction. Analysis of skeletal muscle from three patients confirmed a defect in Complex I assembly.ConclusionsOur report highlights that the long-term prognosis related to the p.Trp22Arg NDUFB3 mutation can be good, even for some patients presenting in acute metabolic crisis with evidence of an isolated Complex I deficiency in muscle. Recognition of the distinctive facial features—particularly when associated with markers of mitochondrial dysfunction and/or Irish ancestry—should suggest screening for the p.Trp22Arg NDUFB3 mutation to establish a genetic diagnosis, circumventing the requirement of muscle biopsy to direct genetic investigations.

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Aim To investigate the effect of a musical intervention on neonatal stress response to venepuncture as measured by salivary cortisol levels and pain profile scores. Methods In a randomised control crossover trial, participants were randomised to both a control arm (sucrose) and intervention arm (sucrose and music) for routine venepuncture procedures. Salivary swabs were collected at baseline, 20 minutes post‐venepuncture and 4 hours post‐venepuncture. Pain levels were assessed using the Premature Infant Pain Profile (PIPP). A total of 16 preterm neonates participated in both arms to complete the study. Results Cortisol values were elevated at all timepoints in the intervention arm (baseline, 20 minutes, and 4 hours post‐procedure) but not significantly so (P = .056, P = .3, and P = .575, respectively). Median change in cortisol values from baseline was +128.48 pg/mL (−47.66 to 517.02) at 20 minutes and +393.52 pg/mL (47.88‐1221.34) at 4 hours post‐procedure in the control arm compared to −69.564 pg/mL (−860.96 to 397.289) and +100.48 pg/mL (−560.46 to 842.99) at 20 minutes and 4 hours post‐procedure in the intervention arm. There was no statistically significant difference observed between groups (P = .311 at 20 minutes, and P = .203 at 4 hours post‐procedure). PIPP scores were not significantly different between study arms. Conclusion Our findings did not support the additional benefit of music intervention on neonatal stress response to venepuncture in preterm infants.

ObjectiveCurrent guidelines for percutaneous endoscopic gastrostomy (PEG) placement focus largely on maintaining enteral feeding when oral feeding is no longer possible or adequate with an emphasis on nutrition and quality of life (QOL). Previous publications have also alluded to potential benefits in medication adherence, for example, in children with HIV, renal disease and neurodisability. We describe a cohort of children with refractory epilepsy who refused oral medication and in whom PEG tube placement was initiated for the purpose of drug administration.DesignWe identified children from the medical records of two tertiary paediatric units over a 9-year period who had PEG tube placement for administration of antiepileptic drug (AED) therapy and collected demographic and clinical details from chart reviews. We assessed parent-reported changes in seizure control and QOL using a structured questionnaire.ResultsTen patients met the inclusion criteria. All families reported an improvement in ease of administering medications and eight reported a significant improvement in QOL. Nine children had a decrease in seizure frequency (lasting more than 12 months) following PEG tube placement, including two who underwent surgical intervention for their epilepsy during that period. Four had either a decrease in the number of drugs administered or their doses and four went on to receive fluids and nutrition through their tube on a regular basis. Seven reported PEG complications, which did not require removal of the PEG.ConclusionsThis case series of children with resistant epilepsy demonstrates improvement in seizure control and QOL following PEG tube placement for AED administration.

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