Impact of initial flow rate of high-flow nasal cannula on clinical outcomes in infants with bronchiolitis.

AIM: Bronchiolitis is a common condition in the paediatric population. Severe cases often receive respiratory support with high-flow nasal cannula (HFNC). Significant variation in the application of HFNC exists throughout Australia and internationally. This study aimed to determine if the flow rate used initially and when ceasing HFNC at the end of the illness alters clinical outcomes. METHODS: A retrospective analysis was conducted of 251 children less than 12 months of age when admitted to the Women's and Children's Hospital Adelaide with bronchiolitis requiring HFNC therapy between the period of April 2016 to April 2019. The primary outcome was to determine if commencing HFNC therapy at different rates (1 L/kg/min, 1.5 L/kg/min and 2 L/kg/min) affected length of stay or treatment failure (escalation in physiological parameters or respiratory support). RESULTS: Treatment failure occurred in 33%, 13% and 26% of those starting at 1 L/kg/min, 1.5 L/kg/min and 2 L/kg/min, respectively. Commencing HFNC therapy at 1 L/kg/min increased length of stay by an average of 30 h (P < 0.001) and the likelihood of treatment failure (P < 0.002) compared with starting at 1.5 L/kg/min. There was no statistical difference in outcomes between starting at 1.5 L/kg/min and 2 L/kg/min. There was no significant difference in the length of stay from the starting of weaning HFNC to time of discharge. CONCLUSIONS: The commencing flow rates of initial HFNC therapy impact individual patient's outcomes, including length of stay and rates of treatment failure. Clinicians should consider commencing HFNC at 1.5 L/kg/min or 2 L/kg/min in infants that have failed low-flow oxygen therapy.

Presenting age and features of females diagnosed with autism spectrum disorder.

AIM: Autism spectrum disorder (ASD) is reportedly more prevalent in males than in females. Hypotheses for this gender imbalance include differing presentations in females. The aim of this study was to identify gender-based ASD differences in age at presentation, clinical features, comorbidities and severity levels. METHODS: A cross-sectional study was conducted at a Child Development Unit. Children diagnosed with ASD during a 6-month period were analysed. RESULTS: A total of 195 children were analysed with a male-to-female ratio of 2.8:1. No difference was found between gender and age at diagnosis. Males were more likely to display deficits in imaginative play and use repeated or learned phrases. Females were more likely to present with proprioception and vestibular issues, fears reflecting sensory avoidance and ASD of lesser severity. CONCLUSION: Our study supports the hypothesis that gender-based differences exist within ASD presenting features. These differences should be considered when assessing for ASD in females to avoid under recognition.

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

The aim of this study was to determine prospectively the frequency of pathogenic chromosomal microdeletions and microduplications in a large group of referred patients with developmental delay (DD), intellectual disability (ID) or autism spectrum disorders (ASD) within a genetic diagnostic service. First tier testing was applied using a standardised oligo-array comparative genomic hybridization (CGH) platform, replacing conventional cytogenetic testing that would have been used in the past. Copy number variants (CNVs) found to be responsible for the clinical condition on the request form could all be subdivided into three groups: well established pathogenic microdeletion/microduplication/aneuploidy syndromes, predicted pathogenic CNVs as interpreted by the laboratory, and recently established pathogenic disease susceptibility CNVs. Totalled from these three groups, with CNVs of uncertain significance excluded, detection rates were: DD (13.0%), ID (15.6%), ASD (2.3%), ASD with DD (8.2%), ASD with ID (12.7%) and unexplained epilepsy with DD, ID and ASD (10.9%). The greater diagnostic sensitivity arising from routine application of array CGH, compared with previously used conventional cytogenetics, outweighs the interpretative issues for the reporting laboratory and referring clinician arising from detection of CNVs of uncertain significance. Precise determination of any previously hidden molecular defect responsible for the patient's condition is translated to improved genetic counselling.

Spinal arteriovenous malformation presenting as spastic monoplegic cerebral palsy in a child.

A case of spinal arterio-venous malformation (AVM) initially diagnosed as unilateral cerebral palsy (CP) is reported. The presentation was of a long-standing spastic monoparesis of the left leg, with initial response to Botulinum toxin injections to the calf and tibialis posterior muscles. This was followed by progressive deterioration occurring over a 3-month period before further investigation and definitive diagnosis at 7 years. Imaging demonstrated a large extra-medullary spinal AVM compressing the mid-thoracic cord. This was successfully managed by embolisation with a non-adhesive polymer: ethylene-vinyl alcohol copolymer injected into the dominant feeding vessel. This case highlights the need to consider alternative diagnoses when a child with a diagnosis of CP presents with atypical clinical features such as monoparesis and has worsening or altered clinical signs. Moreover, a normal magnetic resonance imaging brain scan and the absence of ipsilateral upper limb neurological signs or functional impairment should raise suspicion even in the context of static lower limb signs. A literature review was performed on the management of spinal AVM in children and this will be is discussed.