Don Urquhart

NHS Lothian · Department of Paediatric Respiratory and Sleep Medicine

Objective There is currently no consensus about managing upper airway obstruction (UAO) in infants with Robin sequence (RS), in terms of treatment efficacy or clinical outcomes. This study describes UAO management in UK/Ireland, and explores relationships between patient characteristics, UAO management, and clinical outcomes in the first 2 years of...

Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct isotypes form cell type– and context-specific microtubule structures is poorly understood. Based on a cohort of 12 patients with primary ciliary dyskinesia as well as mouse mutants, we ident...

Objective There is currently no consensus about managing upper airway obstruction (UAO) in infants with Robin sequence (RS), in terms of treatment efficacy or clinical outcomes. This study describes UAO management in UK/Ireland, and explores relationships between patient characteristics, UAO management, and clinical outcomes in the first two years...

Background Elexacaftor in combination with Tezacaftor and Ivacaftor (ETI) became licensed in the United Kingdom in early 2022 for children aged 6–11 years with cystic fibrosis (CF) and an eligible mutation. Many in this age group have excellent prior lung health making quantitative measurement of benefit challenging. Clinical trials purport that lu...

Study objectives: Epilepsy and obstructive sleep apnea syndrome (OSAS) are each relatively common in children. OSAS may affect cognition, such that recognition of OSAS is important for children and young people with epilepsy (CYPWE). Published pilot data reported 55% CYPWE had symptoms suggestive of OSAS, compared with 7% typically developing cont...

Robin sequence (RS), a congenital disorder of jaw maldevelopment and glossoptosis, poses a substantial healthcare burden and has long-term health implications if airway obstruction is suboptimally treated. This study describes the global birth prevalence of RS and investigates whether prevalence estimates differ by geographical location, ethnicity...

https://youtu.be/EpABCWL0glE https://youtu.be/Cvh2GU2GxOY

Background Birth prevalence of Robin sequence (RS) is commonly reported as 1 case per 8000–14 000 live births. These estimates are based on single-source case ascertainment and may miss infants who did not require hospital admission or those without overt upper airway obstruction at birth. Objectives To identify the true birth prevalence of RS wit...

Regular exercise testing is recommended for all people with cystic fibrosis (PwCF). A range of validated tests, which integrate both strength and aerobic function, are available and increasingly being used. Together, these tests offer the ability for comprehensive exercise evaluation. Extensive research and expert consensus over recent years has en...

Objective To investigate the BMI trajectories of children attending a tertiary asthma clinic during the COVID-19 pandemic.Methods Data were collected retrospectively on children and young people with asthma who attended the Royal Hospital for Children and Young People (RHCYP) before March 2020 (pre-COVID-19) and after August 2021 (the lifting of na...

We present a challenging case that illustrates how the clinical manifestations in children with CFTR mutations of uncertain significance may change over time. This case highlights the evolution of confirming a diagnosis of CF and emphasises the importance of regular review and monitoring of this patient cohort.

Objectives Regular exercise testing is recommended for people with cystic fibrosis (pwCF), as is the provision and regular review of exercise training programmes. A previous survey on exercise testing and training for pwCF in the UK was conducted over a decade ago. With the landscape of CF changing considerably during this time, this survey aimed t...

Background: Increasing evidence suggests that vitamin D is associated with pulmonary health, which may benefit children and young people diagnosed with Cystic Fibrosis (cypCF). Therefore, the aim of this systematic review was to evaluate primary research to establish associations between 25OHD and pulmonary health in cypCF. Methods: Electronic data...

Background: Chest physiotherapy is an established cornerstone of care for people with cystic fibrosis (pwCF), but is often burdensome. Guidelines recommend at least one chest physiotherapy session daily, using various airway clearance techniques (ACTs). Exercise (with huffs and coughs) may offer an alternative ACT, however the willingness of pwCF t...

Cilia are small microtubule-based structures found on the surface of most mammalian cells, which have key sensory and sometimes motile functions. Primary ciliary dyskinesia (PCD) is a type of ciliopathy caused by defects in motile cilia. The genetic basis of PCD is only partially understood. Studying a cohort of 11 human patients with PCD, we find...

Background The roles of physical activity (PA) and exercise within the management of cystic fibrosis (CF) are recognised by their inclusion in numerous standards of care and treatment guidelines. However, information is brief, and both PA and exercise as multi-faceted behaviours require extensive stakeholder input when developing and promoting such...

Replacing traditional airway clearance therapy (tACT) with exercise (ExACT) in people with cystic fibrosis (pwCF) is a top research priority. A UK-based e-Delphi consensus was performed to inform the type(s), duration and intensity of ExACT. The expert panel comprised CF physiotherapists, doctors, pwCF and parents/partners. Exercise ACT was conside...

Background: Previous studies have reported differences in aerobic exercise capacity, expressed as peak oxygen uptake (VO2peak), between people with and without cystic fibrosis (CF) related diabetes (CFRD). However, none of the studies controlled for the potential influence of physical activity on VO2peak. We investigated associations between CFRD...

Objectives The COVID‐19 pandemic has resulted in unprecedent changes to clinical practice, and as the impact upon delivery of exercise services for people with cystic fibrosis (CF) in the United Kingdom was unknown, this was characterised via a national survey. Methods An electronic survey was distributed to healthcare professionals involved in th...

Pre-operative respiratory assessment of children with spinal deformity requires an understanding of the deformity, the proposed surgery and most importantly the children themselves. The assessment and the tailoring of investigations will differ according to the age, developmental level and co-morbidities of the child. This review uses a mixture of...

Sleep-related breathing disorders are a common problem in infancy and childhood. The most common type of sleep-related breathing disorder in this age group is obstructive sleep apnea syndrome (OSAS), generally caused by factors affecting airway patency, such as tonsillar hypertrophy or obesity. However, in adults OSAS can also be caused by processe...

Rationale The long-term effects of vigorous physical activity (PA) on lung function in cystic fibrosis are unclear. Objectives To evaluate effects of a 12-month partially supervised PA intervention using motivational feedback. Methods In a parallel-arm multicenter randomized controlled trial (ACTIVATE-CF), relatively inactive patients aged at lea...

Regular exercise training can make people with CF (pwCF) fitter and maintain their lung health. However, the positive effects of exercise are varied, with some pwCF do not benefitting as much as others. One reason is the lack of individualisation of training programmes in this new era of CF care. The increased life expectancy and availability of hi...

Bronchiectasis is typically associated with considerable morbidity, reduced exercise capacity, and may impact upon quality of life. Children with cystic fibrosis (CF), the most common cause of childhood bronchiectasis, are now living longer than ever before. Given the functional and prognostic importance of aerobic fitness as well as peripheral and...

Exercise is considered as an important component of the package of care delivered to people with cystic fibrosis (pwCF). However, despite the well-known short-term physiological and psychological benefits, training effects are heterogenous and the transfer of structured exercise programmes to the daily life of pwCF is challenging. Training concepts...

Background: 25-hydroxyvitamin D (25OHD) may exert immunomodulatory effects on respiratory health, which may translate to improvements in exercise physiology. Thus, we aimed to investigate whether plasma 25OHD is associated with lung function and aerobic fitness in people with cystic fibrosis (pwCF). Methods: A multi-centre retrospective review o...

The COVID-19 pandemic has resulted in unprecedent change to clinical practice. As the impact upon delivery of exercise services for people with cystic fibrosis (CF) in the UK was unknown, this was characterised via a national survey. In total, 31 CF centres participated. Principal findings included a significant reduction in exercise testing, and w...

Objective The impact on executive function performance of sleep‐related disorders in asthmatic children has been scarcely studied in community settings. The aims of the present study were to assess the prevalence of sleep‐related breathing disorders (SRBD) in children with intermittent or mild persistent asthma in primary care settings, and to exam...

Objectives To determine the indirect consequences of the COVID-19 pandemic on paediatric healthcare utilisation and severe disease at a national level following lockdown on 23 March 2020. Design National retrospective cohort study. Setting Emergency childhood primary and secondary care providers across Scotland; two national paediatric intensive...

In this chapter, we summarize the spectrum of disorders of respiratory control in childhood. The aim of this chapter is to provide a review of the physiology and pathophysiology of breathing control. The etiology of abnormalities of breathing control is considered as maturational, structural, situational or genetically-inherited. The article detail...

In this chapter, we summarize the neurophysiology of sleep and discuss the impact of sleep on the respiratory, cardiovascular and endocrine/metabolic systems, highlighting the differences across the age spectrum. The aim of this chapter is to provide an up to date review of the normal physiology, enabling a better understanding of the pathophysiolo...

Background The impact of lumacaftor/ivacaftor on exercise tolerance in people with cystic fibrosis (CF) has not been thoroughly studied. Methods We conducted a multisite Phase 4 trial comparing the impact of lumacaftor/ivacaftor on exercise tolerance with that of placebo in participants ≥ 12 years of age with CF homozygous for F508del-CFTR. The pr...

Background Severe disease directly associated with SARS-CoV-2 infection in children is rare. However, the indirect consequences of the COVID-19 pandemic on paediatric health have not been fully quantified. We examined paediatric health-care utilisation, incidence of severe disease, and mortality during the lockdown period in Scotland. Methods This...

There is paucity of evidence investigating the role of vitamin D on lung function in patients with CF (pwCF). The aim of this study was to determine the prevalence of vitamin D inadequacy (deficiency and insufficiency) and the relationship of vitamin D status to lung function in pwCF. 25OHD deficiency and insufficiency was prevalent despite vitami...

Background: Severe scoliosis can affect respiratory function in growing patients and produce cardiopulmonary complications, leading to significant morbidity. The development of spinal deformity may impact on young patients' level of function and reported quality of life (QOL). The aim of this study was to investigate the relationship between lung...

The objective of this document was to standardise published cardiopulmonary exercise testing (CPET) protocols for improved interpretation in clinical settings and multicentre research projects. This document: 1) summarises the protocols and procedures used in published studies focusing on incremental CPET in chronic lung conditions; 2) presents sta...

Objective: A high proportion of children and adolescents who have “difficult” or therapy-resistant asthma, are found to have poor adherence to maintenance therapies. Such individuals are thus difficult asthmatics (for reasons of poor adherence) rather than being young people with true difficult asthma. In our centers, once daily ICS/ULABA (Relvar™)...

Introduction Epilepsy and OSA are common conditions, affecting 0.5%¹ and 6%² of children respectively. Pilot data utilising the PSQ-SRBD reported a high risk of OSA in 55% of CWE versus 7% of controls.³ This study assessed symptoms of OSA in CWE and typically-developing children using subjective questionnaires, and compared these with objective lev...

Rationale: The prognostic value of cardiopulmonary exercise testing (CPET) for survival in cystic fibrosis (CF) in the context of current clinical management, when controlling for other known prognostic factors, is unclear. Objectives: To determine the prognostic value of CPET-derived measures beyond peak oxygen uptake ( V . o2peak) following...

Background Airflow limitation and dynamic hyperinflation may limit exercise capacity in patients with cystic fibrosis (CF). The aim was to investigate whether the undertaking of airway clearance physiotherapy (ACT) prior to cardiopulmonary exercise testing (CPET) results in improvements in exercise capacity. Methods A prospective randomised, cross...

Background Robin sequence (RS) is a congenital disorder characterized by cleft palate, micrognathia, and glossoptosis which can result in clinically significant upper airway obstruction (UAO). Historically, incidence of RS in the UK has been estimated as 1 in 8500 live births. Our study describes birth prevalence, clinical characteristics, and mana...

Annual review exercise testing is recommended by the Cystic Fibrosis (CF) Trust. Testing to date has focused on evaluating aerobic fitness, a key prognostic indicator. Tests available range from simple field tests, to comprehensive evaluations of aerobic exercise (dys)function – cardiopulmonary exercise testing (CPET). ‘Field tests’, although easy...

The sodium leak channel nonselective protein (NALCN) is a regulator of the pacemaker neurons that are responsible for rhythmic behavior (including respiration), maintaining the resting membrane potential, and are required for action potential production.NALCN-null mice show early death associated with disrupted respiratory rhythms, characterized by...

Aims Scoliosis may impair both lung function and exercise capacity. There is some evidence to suggest lung function is positively correlated with exercise capacity, however the exact relationship between these variables is poorly defined. This study investigated the relationship between exercise variables and lung function in children and young peo...

Background: Physical activity (PA) and exercise have become an accepted and valued component of cystic fibrosis (CF) care. Regular PA and exercise can positively impact pulmonary function, improve physical fitness, and enhance health-related quality of life (HRQoL). However, motivating people to be more active is challenging. Supervised exercise p...

Rationale: Cystic fibrosis transmembrane conductance regulator (CFTR) is expressed in human skeletal muscle cells. Variations of CFTR dysfunction among patients with CF may present an important determinant of aerobic exercise capacity in CF. Previous studies on the relationship between CFTR genotype and aerobic exercise capacity are scarce and con...

Abstract presented at the ECFC 2017

Background Lumacaftor and ivacaftor combination treatment showed efficacy in patients aged 12 years or older with cystic fibrosis homozygous for F508del-cystic fibrosis transmembrane conductance regulator (CFTR) in placebo-controlled studies and patients aged 6–11 years with cystic fibrosis homozygous for F508del-CFTR in an open-label study. We rep...

Catathrenia (from the Greek kata, meaning “below”, and threnia, meaning “to lament”) is a rare sleep disorder with very few cases reported in children. The principal feature of catathrenia is a monotonic expiratory groaning noise that may or may not be associated with an altered respiratory pattern. It is now classified amongst the sleep-related br...

Sleep-disordered breathing in children includes disorders of breathing that affect airway patency e.g. obstructive sleep apnoea (OSA), and also conditions that affect respiratory drive (central sleep disorders) or cause hypoventilation, either as a direct central effect or due to peripheral muscle weakness. OSA is an increasingly-recognised clinica...

Congenital central hypoventilation syndrome (CCHS) is a rare disorder associated with dysregulation of the autonomic ventilatory response to hypoxia and hypercarbia usually caused by polyalanine repeat expansion mutations in the PHOX2B gene. Non-polyalanine repeat mutations (NPARM) represent approximately 10% of cases, and usually require continuou...

Introduction: Cystic fibrosis (CF) transmembrane conductance regulator (CFTR) is expressed in human skeletal muscle cells and CFTR dysfunction may present an important determinant of aerobic exercise capacity in CF. Previous studies on the relationship between CFTR genotype and aerobic exercise capacity are scarce and contradictory. Aims and object...

Prader Willi syndrome, resulting from the partial deletion or lack of expression of a region of genes on the paternal chromosome 15, has a number of phenotypic features which predispose affected patients to ventilatory problems. These include generalised hypotonia, abnormal arousal and ventilatory responses to hypoxia and hypercapnia, scoliosis and...

Aim: To estimate symptoms of obstructive sleep apnoea (OSA) and excessive daytime sleepiness (EDS) in children with epilepsy (CWE) compared with those in a typically developing comparison group. CWE are known to have poor sleep, with increased rates of OSA suggested. Method: The Sleep-Related Breathing Disorder scale of the Pediatric Sleep Quest...

Aims To evaluate clinical and cost effectiveness of a rapid response respiratory physiotherapy service in the community. Methods Prospective review of frequently admitted children with complex needs and recurrent respiratory infections. Data on A+E attendances, hospital admissions and length of hospital stay were gathered for 2009 (year prior to in...

The aims are to define the demographic profile of the population discharged from paediatric intensive care unit (PICU) between 1 April 2014–31 March 2015; the proportion with chronic diseases; and to identify the clinical and financial burden of chronic disease within this population. Methods Data on PICU admissions was obtained from the PICANet da...

Educational aims: The reader will be able to: Understand normal sleep patterns in infancyAppreciate disorders of breathing in infancyAppreciate disorders of respiratory control. Normal sleep in infancy is a time of change with alterations in sleep architecture, sleep duration, sleep patterns and respiratory control as an infant grows older. Intera...

Spinal deformity in patients with cystic fibrosis (CF) is usually mild requiring no treatment. These patients are rarely considered as surgical candidates for scoliosis correction, as the pulmonary condition and other comorbidities increase the risk of general anaesthesia and recovery. This paper reviews all the literature up to date with regard to...

This statement summarizes the information available on specific exercise test protocols and outcome parameters used in patients with cystic fibrosis (CF) and provides expert consensus recommendations for protocol and performance of exercise tests and basic interpretation of results for clinicians. The conclusions were reached employing consensus me...

Whilst Listeria monocytogenes (L. monocytogenes) meningitis is more common in neonates and the immunosuppressed, consideration of listeriosis is also warranted in otherwise healthy children. We present a case of L. monocytogenes meningitis in an immunocompetent 6-year-old girl. She presented with fever, irritability, pain on neck flexion and signs...

Objectives Cardiopulmonary exercise test (CPET) testing is the gold standard exercise test in CF. Elevated breathing reserve index at anaerobic threshold (BRIAT) is a prognostic indicator of mortality in CF adults awaiting transplant, but no data on BRIAT in the paediatric CF population are reported. The aim of this study was to investigate the rel...