Archives of Disease in Childhood最新文献

Objective: This retrospective observational study aimed to examine the associations among genetic mutations, demographic characteristics and hearing outcomes in children diagnosed with primary ciliary dyskinesia (PCD). By identifying potential predictors of adverse auditory outcomes, we hope to inform future approaches to clinical care and intervention.

Design: A total of 84 children, aged 1-17 years with confirmed PCD, underwent audiological assessments, including age-appropriate audiometry and tympanometry. Hearing loss severity scores (HLSS) were calculated (from 1 (worse hearing) to 4 (better hearing)) using hearing threshold data and analysed alongside tympanometry findings, in relation to age, sex, ethnicity and specific genetic variants, to determine factors influencing hearing outcomes.

Results: Children with oligocilia-associated genetic mutations demonstrated significantly worse hearing thresholds (mean HLSS 2.13) compared with the other groups (mean HLSS 3.44) (p<0.001) and had a greater incidence of type B tympanograms (p<0.001). Middle ear effusions were found to improve significantly with increasing age (p<0.001). Male participants showed significantly poorer tympanometry outcomes (p=0.017). Caucasian participants were found to have better hearing thresholds (mean=3.50) versus non-Caucasian children (mean=3.25) (p=0.018).

Implications: These results highlight key clinical considerations for the management of hearing in paediatric PCD. Routine, early audiological evaluation should be standard practice. Tympanostomy tube insertion should be considered carefully, given that some children exhibit age-related improvement. Male children may warrant more intensive monitoring for middle ear pathology. Genetic profiling may offer prognostic value and support a more individualised approach to management.

Objectives: Sleep-disordered breathing is a key childhood complication in children with achondroplasia. This retrospective study aimed to document the prevalence of sleep-disordered breathing in children with achondroplasia assessed by polysomnography.

Design: The prevalence of sleep-disordered breathing assessed by polysomnography among children aged 0-18 years with achondroplasia from 2013 to 2024 at The Royal Children's Hospital, Australia, was retrospectively reviewed.

Results: The cohort included 80 children with achondroplasia (54% females, 95% confirmed molecular diagnosis) with an average number of 3.6 polysomnographies collected per child (n=288). A total of 85% (68/80) had sleep-disordered breathing and 21% reported no prior symptoms. Sleep-disordered breathing subtypes included obstructive sleep apnoea in 81% (55/68), central sleep apnoea in 3% (2/68), mixed sleep apnoea in 7% (5/68) and primary snoring in 9% (6/68). Among those with obstructive and mixed sleep apnoea, 58% (35/60) had moderate or severe obstructive sleep apnoea. In 44 children, a corresponding MRI was evaluated for foramen magnum stenosis using the Achondroplasia Foramen Magnum Score. No correlation was found with sleep-disordered breathing severity (Spearman's coefficient (ρ)=0.03). Among 27 children who received a precision therapy for achondroplasia (vosoritide, n=18, infigratinib, n=8 and recifercept, n=1), the median respiratory disturbance index/hour improved from 2.7 (25th-75th percentile, (0.9-4.8)) to 1.1 (0.3-2.6) after 1 year of treatment compared with baseline.

Conclusions: Sleep-disordered breathing was present in 85% of 80 children with achondroplasia, with 21% being asymptomatic. Respiratory parameters did not correlate with foramen magnum stenosis severity and improved after 1 year of treatment in those treated with a precision therapy.

Objective: Gastro-oesophageal reflux (GER) is often reported on barium swallow studies. Our aim was to investigate whether GER on barium oesophagography (GERB) correlates with GER on pH-impedance monitoring (GERpH).

Design: Children who underwent both pH-impedance monitoring and barium studies between 2018 and 2022 were retrospectively identified at a high-volume tertiary paediatric hospital. All pH-impedance studies were independently reanalysed to extract acid exposure time (AET), number of reflux episodes, proximal reflux episodes, reflux-symptom association and mean nocturnal baseline impedance (MNBI). GERpH was diagnosed based on the Lyon Consensus 2.0 criteria and compared with GERB.

Results: Within the study timeframe, 90 children (median age 10 years (IQR 4-15 years), 56.7% female, median body mass index 17.6 kg/m²) fulfilled inclusion criteria. Overall, GERpH was seen in 20 patients (22.2%) and GERB in 38 (42.2%) patients, with no differences whether testing was performed off (26.2% vs 38.1%, respectively, p=0.491) or on (18.8% vs 45.8%, respectively, p=0.716) acid suppressive therapy. Neither conclusive GERpH nor individual reflux metrics were associated with GERB (p≥0.157 vs no GERB). 10 patients had hiatal hernia (HH), of which nine (90%) had GERB (p=0.002 compared with no HH); four of these also had GERpH with 72 (IQR 37-92) reflux episodes compared with 68 (IQR 35-98) without HH (p=0.314). In fact, HH was associated with GERB only when GERpH was negative.

Conclusions: In a symptomatic paediatric cohort evaluated for reflux symptoms, GERB does not associate with objective pathological reflux. Barium studies cannot be substituted for oesophageal testing with endoscopy and/or ambulatory reflux monitoring for objective GERD diagnosis.

Aim: To understand whether the risk of complications following paediatric cardiac surgery differs according to a child's ethnicity or the degree of residential deprivation.

Methods: We conducted a retrospective cohort study using data from the National Congenital Heart Disease Audit, including children younger than 18 years who underwent cardiac surgery between April 2015 and March 2022 across 10 paediatric cardiac surgical centres in England and Wales. We examined the occurrence of six defined postoperative complications and used previously reported descriptive models to account for case complexity. Multivariable analysis was used to assess the association between complications and individual ethnicity and socioeconomic deprivation.

Results: There were 23 423 30-day postoperative episodes. Children of Asian ethnicity were more likely to have a functionally univentricular heart or congenital cardiac risk factors, while children of Black ethnicity were more likely to have Down syndrome and prematurity than children of the remaining ethnicities. Children from the most versus the least deprived areas had higher rates of congenital comorbidity, functionally univentricular heart, high illness severity and urgent operations. After adjusting for case complexity, children from high compared with low deprivation areas had greater odds of prolonged pleural effusion (p=0.05), extracorporeal life support (p=0.001) and unplanned reintervention within 30 days (p=0.04).

Conclusions: Greater area deprivation in England is associated with increased preoperative medical complexity and a higher incidence of certain postoperative complications among children with congenital heart disease (CHD). Further research is needed to explore the relationship between ethnic background and perioperative outcomes in CHD and to develop pathways to improvement based on social factors.

Over the past 100 years, many important papers relating to growth and development have been published in Archives The aims of the study were to quantify time trends of such papers based on title keywords: to summarise them in terms of their citation counts and to highlight the top 10 most highly cited growth and development papers. Several patterns emerged: a rising then falling trend in papers referring to 'growth', the heyday being the 1960s to the 1990s, a rising trend in 'obesity', and many of the papers being highly cited. In the list of all Archives articles ranked by citations, growth and development topics fill the top five slots, and 10 of the top 16. This confirms the importance attached by the profession to research into growth and development.