Abstract Background Previous studies have shown evidence of hypoxemia and hypercapnia during cardiopulmonary exercise test (CPET) evaluation in children with congenital central hypoventilation syndrome (CCHS). However, there are no longitudinal studies which compared CPET findings to polysomnogram (PSG) or PHOX2B mutation, to date. Objectives To describe the longitudinal CPET findings in a cohort of children with CCHS and correlate the findings to the PSG results. Methods This retrospective study was conducted in children with CCHS followed in the Long‐term Ventilation Program at SickKids, Toronto, Canada between September, 2013 and January, 2020. CCHS genetic mutation, age of diagnosis, ventilatory support, family history, disease associations of CCHS, CPETs, and PSG parameters were recorded and analyzed. Results A total of nine patients with CCHS (46 CPETs and 46 PSGs) were enrolled. Four (44.4%) children had polyalanine repeat mutations. The mean ( SD ) age at the time of diagnosis and duration of ventilatory usage were 3.2 ± 3.4 years and 11.5 ± 2.8 years, respectively. All abnormal CPETs had hypercapnia in at least 1 phase of the exercise test. Hypercapnia (12/46; 26.1%) at peak of exercise was the most common abnormality. None of the children experienced an oxygen desaturation below 90%. End‐tidal CO 2 (PetCO 2 ) at rest and at peak exercise in the CPETs were significantly correlated with PSG TcCO 2 while PetCO 2 at anaerobic threshold was correlated with CO 2 in pre‐PSG capillary blood gas. Conclusion Nocturnal hypoventilation may impact the CPET results in CCHS children. Serial CPETs should be considered standard clinical care for all CCHS children.
Children with medical complexity (CMC) are a growing population of diagnostically heterogeneous children characterized by chronic conditions affecting multiple organ systems, the use of medical technology at home as well as intensive healthcare service utilization. Many of these children will experience either a respiratory-related complication and/or they will become established on respiratory technology at home during their care trajectory. Therefore, healthcare providers need to be familiar with the respiratory related complications commonly experienced by CMC as well as the indications, technical and safety considerations and potential complications that may arise when caring for CMC using respiratory technology at home. This review will outline the most common respiratory disease manifestations experienced by CMC, and discuss various respiratory-related treatment options that can be considered, including tracheostomy, invasive and non-invasive ventilation, as well as airway clearance techniques. The caregiver requirements associated with caring for CMC using respiratory technology at home will also be reviewed.
For the clinician, the diagnosis of arterial ischemic stroke (AIS) in children is a challenge. Prompt diagnosis of pediatric AIS within 6 hours enables stroke-specific thrombolytic and neuroprotective strategies.We conducted a retrospective study of prospectively enrolled consecutive cohort of children with AIS, admitted to The Hospital for Sick Children, Toronto, from January 1992 to December 2004. The data on clinical presentation, symptom onset, emergency department arrival, neuroimaging and stroke diagnosis were recorded. The putative predictors of delayed diagnosis were selected a priori for analysis.A total of 209 children with AIS were studied. The median interval from symptom onset to AIS diagnosis was 22.7 hours (interquartile range: 7.1 to 57.7 hours), prehospital delay (symptom onset to hospital arrival) was 1.7 hours (interquartile range: 49 minutes to 8.1 hours), and the in-hospital delay (presentation to diagnosis) was 12.7 hours (interquartile range: 4.5 to 33.5 hours). The initial assessment was completed in 16 minutes and initial neuroimaging in 8.8 hours. The diagnosis of AIS was suspected on initial assessment in 79 (38%) children and the initial neuroimaging diagnosed AIS in 47%. The parent's help seeking action, nonabrupt onset of symptoms, altered consciousness, milder stroke severity, posterior circulation infarction and lack of initial neuroimaging at a tertiary hospital were predictive delayed AIS diagnosis.In the diagnosis of AIS, significant prehospital and in-hospital delays exist in children. Several predictors of the delayed AIS diagnosis were identified in the present study. Efforts to target these predictors can reduce diagnostic delays and optimize the management of AIS in children.
'%3e%3cpath fill='%23012169' d='M0 0v30h60V0z'/%3e%3cpath stroke='%23fff' stroke-width='6' d='m0 0 60 30m0-30L0 30'/%3e%3cpath stroke='%23C8102E' stroke-width='4' d='m0 0 60 30m0-30L0 30' clip-path='url(%23b)'/%3e%3cpath stroke='%23fff' stroke-width='10' d='M30 0v30M0 15h60'/%3e%3cpath stroke='%23C8102E' stroke-width='6' d='M30 0v30M0 15h60'/%3e%3c/g%3e%3c/svg%3e)