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Improving diagnosis of chronic lung, ear and sinus infections in young children


Southampton researchers have recommended a method to help diagnose preschool children with Primary Ciliary Dyskinesia (PCD).


PCD is a rare, inherited condition that leads to chronic lung, ear and sinus infections. Children with the condition have a problem with mucus build-up. This leads to inflammation in the airways, and infections in the lungs, nose, sinuses and ears.


Difficulties diagnosing young children


Most people with PCD have symptoms from birth or early childhood, but some children may not be diagnosed until much later.


Currently, a commonly used diagnostic test for PCD is measuring the nitric oxide (nNO) in the nose. This is done using a chemiluminescent analyser, holding a sampling tube at the nostril.


The patient must hold their breath or breathe out through their mouth against a resistance. But controlled breathing in these ways is not always possible for young children. Chemiluminescence analysers are also extremely expensive, not portable, and unavailable in most countries.


New recommendations


Prof Jane Lucas at the NIHR Southampton Biomedical Research Centre led an international task force. This aimed to find better methods for diagnosing PCD in young children. They reviewed existing studies and literature to find more effective and accessible methods.


The task force concluded that adequate measurements could be achieved by measuring nasal nitric oxide whilst a preschool child breathes normally. They therefore recommend this as the standard way to diagnose PCD in children under the age of five. They published their findings in the European Respiratory Journal.


They also suggested electrochemical devices have a role in healthcare systems with limited resources. These are more portable, so may be useful in countries where patients live long distances from a specialist centre. However, chemiluminescence analysers are more reliable.


The task force also recommends that future research is needed to ensure the technical standard is kept up to date.


Professor Lucas, Professor of Paediatric Respiratory Medicine at the University of Southampton, said:


“We know that the earlier we can diagnose a condition, the better the chances are of implementing the best treatment plan for the patient. But current guidelines and technical standards focus on nNO measurements in older, cooperative children using technology that is not widely available.


“Preschoolers often need different methods to be employed when measuring nNO, methods that are less invasive and adaptable. Without guidelines for younger children, and electrochemical analysers there is huge variability in how people take the measurements and interpret them.


“This paper is the first step towards standardising sampling, analysis, and reporting of nNO measured as part of the diagnostic testing for PCD in all age groups including preschool-age children. We hope this will promote earlier diagnosis of PCD, and a standardised approach to interpreting and reporting results.”


Support from charities and parents


The findings have received support from charities and parents.


A spokesperson from Primary Ciliary Dyskinesia (PCD) Support UK said:


“We support the recommendations outlined by the European Respiratory Society Task Force. The use of nNO in preschool children will help to facilitate an earlier diagnosis for many with PCD.


"PCD is a multi-system disorder, requiring multi-disciplinary care. This includes respiratory management, Ear, Nose and Throat (ENT), cardiology, dietetics and fertility input. Earlier diagnosis will ensure PCD patients get timely access to appropriate care. This is vital for preventing irreversible airway damage and poor quality of life.”


One parent said:


“As a parent of a child with PCD, it is now clear to me why early diagnosis is so important. Diagnosis was only confirmed because I advocated for my son and insisted on further testing. My child had all of the classic symptoms of PCD but unfortunately, he had six operations for glue ear and the insertion of grommets (not recommended in PCD) before he was referred for PCD testing.


“Access to testing and an early diagnosis would have prevented these unsuccessful and unnecessary procedures. Earlier intervention may have prevented his bronchiectasis from developing at such a young age.”

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