Archives of Disease in Childhood最新文献

Objective: To establish a birth rate for catecholaminergic polymorphic ventricular tachycardia (CPVT) diagnosed in childhood and observe trends in presentation and management.

Design: Retrospective cohort study.

Setting: The Inherited Arrhythmia Clinic at The Sydney Children's Hospitals Network, a paediatric tertiary referral network, New South Wales (NSW), Australia (2002-2021), where there are 86 000-97 000 live births/year.

Patients: Children diagnosed with CPVT aged 0-16 years.

Interventions: Clinical data were extracted and evaluated for trends. Using birth year data, the birth rate of CPVT detected in childhood was calculated.

Main outcome measures: Birth rate of CPVT detected in childhood in NSW (with post hoc comparison to New Zealand), trends in diagnosis and management, and outcome at last follow-up.

Results: 32 children in NSW were diagnosed with CPVT between 2002 and 2021 (0-16 years, median 9 years, 14 (54%) female). Of these, 28 (88%) presented with symptoms (cardiac arrest 20/32, 62.5%) and four (12%) were identified through family screening. Relevant genetic variants were identified in 25/31 (78%). During follow-up (median 4.5 years), symptomatic cardiac events (death n=1) occurred in 10 (33%), largely related to suboptimal adherence or monotherapy beta blocker. In NSW, CPVT was diagnosed during childhood following 1 in 65 000 live births (95% CI 1 in 91 000 to 1 in 46 000). In New Zealand, the corresponding figure was 1 in 84 000 live births (95% CI 1 in 138 000 to 1 in 52 000).

Conclusions: The rate of infants born who are later diagnosed with CPVT in childhood is approximately 1 in 65 000 live births. Suboptimal adherence and beta blocker therapy without flecainide appeared related to recurrent cardiac events.

Background and objective: Cardiorespiratory polygraphy (CRP) is the predominant technology used to diagnose obstructive sleep apnoea (OSA) in tertiary centres in the UK. Nocturnal pulse oximetry (NPO) is cheaper and more accessible. This study evaluates NPO indices' ability to predict OSA in children with Down syndrome (DS).

Methods: Indices from simultaneous NPO and CRP recordings were compared in children with DS (aged 2-16 years) referred to evaluate OSA in two tertiary centres across an 8-year period. Receiver operating characteristic curves assessed the diagnostic accuracy of NPO indices, including ODI3 (3% Oxygen Desaturation Index) and ODI4 (4% Oxygen Desaturation Index). Two-by-two tables determined the sensitivities and specificities of cut-off values for predicting OSA.

Results: 387 children with DS were included with stand-alone NPO; 177 female (46.7%), median age 6.1 years (range 2.02-15.97). There were 265 children (68.5%) with Obstructive Apnoea-Hypopnoea Index (OAHI) ≥1/hour, 164 with OAHI ≥1<5/hour (42.4%), 51 with OAHI ≥5<10/hour (13.2%) and 50 with OAHI ≥10/hour (12.9%). ODI3 and ODI4 demonstrated the best predictive value for predicting OSA. An ODI3 ≥19/hour and an ODI4 ≥8/hour were associated with the highest combined sensitivity (59.2%/63.8%) and specificity (74.6%/71.3%), respectively.

Conclusion: Raised ODI3 and ODI4 predict moderate and severe OSA in children with DS with moderate specificity/sensitivity and have a low sensitivity for detecting mild OSA. The poor predictive performance of oximetry reflects the multifactorial nature of sleep disordered breathing in children with DS. We recommend oximetry is not used for diagnosis of OSA in DS and CRP/polysomnography should be used.

Objective: Using normal pulse oximetry (SpO₂) values as basis, an oxygen saturation <98% could reflect hypoxaemia in childhood. The objectives were to define the level of SpO₂ associated with hypoxaemia, the prevalence of SpO₂ <98% in children suffering from chronic diseases referred to pulmonary function testing units.

Setting: Two university paediatric hospitals.

Design and patients: We retrospectively selected arterialised blood gas (ABG) analyses and SpO₂ recordings, and further recorded pulmonary function test (PFT) indices (z-scores of forced expiratory volume at 1 s (FEV₁), forced vital capacity (FVC), FEV₁/FVC and total lung capacity) of visits with SpO₂<98% (Radical-7 pulse oximeter, Masimo).

Results: The Bland-Altman analysis of saturations (n=1188) showed that SpO₂ overestimated arterialised saturation (bias: +1.3%, precision: ±1.1%). The 20 ABGs with SpO₂≤95% showed hypoxaemia (z-score of arterialised pressure of O₂<-1.96), while 48/74 (65%) ABGs with SpO₂ of 96% or 97% showed hypoxaemia. Three thousand eight hundred twenty-four PFTs were recorded in 2641 children (1186 girls, 1455 boys) with a mean age (±SD) of 12.3±3.5 years. The prevalence of SpO₂<98% was 114/2641 children (4.3%, 95% CI 3.6 to 5.2), showing that hypoxaemia was mainly observed in chronic obstructive diseases (96 children). Twelve children had SpO₂≤95% and all had ventilatory defects (based on international definitions of PFT).

Conclusions: An oxygen saturation ≤95%, using the Masimo oximeter, is indicative of hypoxaemia and PFT abnormalities, while oxygen saturation of 96% or 97% indicates possible hypoxaemia. Thus, chronic respiratory insufficiency can confidently be diagnosed if repeated SpO₂ is ≤95% using the Masimo oximeter.

Objective: To determine the predictive accuracy of an early high risk of cerebral palsy (CP) classification for CP diagnosed by 2 years' corrected age within an implementation study of international clinical CP guidelines.

Design: Implementation cohort study.

Setting: Eleven Australian neonatal intensive care units.

Patients: 453 infants born 2019-21 <28 weeks' gestation, or ≥28 weeks with other newborn-detectable risk factors for CP.

Interventions: Implementation included providing professional development for clinicians, technology (smartphone app) and health network peer support. Infants were classified as high risk of CP if they had abnormal findings on at least two of the following three assessments: neonatal neuroimaging, General Movements Assessment at 3-4 months or Hammersmith Infant Neurological Examination.

Main outcome measures: Baseline perinatal data and 2-year outcome data were collected from medical record review. Any parent-report of CP at the 2-year interview was confirmed by medical records and/or a paediatrician's report. We calculated predictive values for high risk of CP classification for confirmed CP at 2 years.

Results: We obtained 2-year outcomes from 425 infants (95%). High risk of CP was classified in 105 (25%) of these infants at a mean age of 3.5 months (SD 2.5). This classification demonstrated 91% sensitivity (95% CI 82% to 96%), 90% specificity (95% CI 86% to 93%) and 90% accuracy (95% CI 87% to 93%) for predicting CP, with a mean age of diagnosis of 10.8 months (SD 6.3).

Conclusion: Being classified as high risk of CP using a combination of neuroimaging, General Movements Assessment and/or Hammersmith Infant Neurological Examination can predict CP by 2 years of age with high accuracy.

Objective: To determine the prevalence of invasive bacterial infection (IBI) in a UK cohort of febrile infants aged 90 days and younger with positive urinalysis (PU) results.

Design: A planned secondary analysis of data from the Febrile Infant Diagnostic Assessment and Outcome study, a prospective multicentre observational cohort study.

Setting: 35 paediatric emergency departments and assessment units across the UK and Ireland, between 6 July 2022 and 31 August 2023.

Patients: Febrile infants aged 90 days and younger presenting to emergency care.

Main outcome measures: IBI rates, namely bacterial meningitis or bacteraemia, among febrile infants with PU results were compared with those with negative urinalysis (NU) results.

Results: 1480 of 1821 infants underwent urinalysis testing. 549 infants had PU results and 931 had NU results. 42/549 (7.7%) and 20/931 (2.2%) infants had IBI in the PU and NU groups, respectively. Of the IBI cases within the PU group, 5/549 (0.9%) were bacterial meningitis and 39/549 (7.1%) were bacteraemia, with two concomitant cases. Of the IBI cases in the NU group, there were 4/931 (0.4%) cases of bacterial meningitis and 18/931 (1.9%) cases of bacteraemia, with two concomitant cases. There were no bacterial meningitis cases in infants over 60 days of age or those with confirmed urinary tract infection (UTI).

Conclusions: The prevalence of bacteraemia was high (7.1%) among PU infants, while the prevalence of bacterial meningitis was low (0.9%), with PU or NU. These findings support existing data that older infants with suspected UTI are at low risk of bacterial meningitis.

Background: Research on spacers for paediatric breathing patterns is limited, especially for disposable types, which may be a practical alternative to reusable valved holding chambers (VHC) in certain clinical settings.

Methods: In vitro, the fine particle dose (FPD) of salbutamol from a pressurised metered-dose inhaler (pMDI) was tested using two paperboard spacers-DispozABLE (Diz) and LiteAire (LA)-and three reusable VHCs: AeroChamber Plus Flow-Vu (AC), EasyChamber (EC) and OptiChamber Diamond (OC). The pMDI+VHC setup was connected to a child throat model without a facemask. Salbutamol availability for inhalation was measured using a Next Generation Impactor under three paediatric breathing patterns: calm breathing (6 and 4 year olds) and obstructive breathing.

Results: Median FPD in the respirable range (1-5 µm) was significantly higher for EC compared with LA, Diz and AC. Obstructive breathing increased throat deposition for all spacers, with Diz showing the highest. LA had the lowest throat deposition in calm breathing, and EC in obstructive breathing.

Conclusion: Traditional VHCs, especially EC and OC, outperformed disposable spacers. Among disposables, the valved LA performed better than the valveless Diz and may offer a cost-effective, practical alternative to reusable spacers in specific scenarios.