Entry for:TSANZ 50th Anniversary Benevolent Grant
1. Summary of your project
This project aims to develop an educational resource for medical staff to aid in the early and accurate diagnosis of the progressive lung disease PCD. In addition resources will be developed to assist treating physicians understand the basics of targeted treatment for this condition as well as the array of possible presenting symptoms. PCD presents with common respiratory symptoms such as cough and sinusitis and is often overlooked when patients with these symptoms are seen. Increased knowledge of the specific suggestive points of PCD will help alert doctors to the possibility of PCD and direct patients to specific diagnostic settings.
2. Outline of your proposal
Primary Ciliary Dyskinesia (PCD) is an uncommon but progressive airway disease which untreated causes significant morbidity including irreversible lung damage, severe sinusitis and progressive deafness. A major challenge to early diagnosis is that many presenting symptoms including chronic cough and recurrent otitis media are also present, often frequently, in otherwise normal children and adults. Several specific suggestive diagnostic points have been identified and targeted questioning about these features would help medical personnel identify which patients would appropriately be referred for specific diagnostic testing at one of the 3 diagnostic centers in Australia in Perth, Sydney and Melbourne. Delay in diagnosis results in increased symptoms and deterioration in lung health. Increased medical awareness of the condition will shorten the time to diagnosis and minimise lung health deterioration. A significant number of patients diagnosed with PCD each year are of adult age and awareness of this condition is equally important for medical personnel involved in assessing adult patients with progressive lung disease
An online educational resource will be developed to increase medical awareness of suggestive symptoms as well as referral directions for diagnostic testing. A section will also be developed to explain the detailed diagnostic pathway that occurs at the diagnostic centers.
One of the major challenges facing people diagnosed with PCD is the lack of medical knowledge about specific therapy aims for PCD. While it is recommended that patients with PCD are supervised by PCD experienced medical personnel our data suggests, particularly in the adult PCD population, that medical personnel with specific knowledge of the condition and aims of targeted treatment are often difficult to identify. The planned on-line resource will contain suggestive points for treating medical staff on the basis of PCD specific treatment, including issues such as "when should I start antibiotics?" Why don't the antibiotics clear up my cough", "How often should I have my hearing tested?" "Should my child have ear vent tubes inserted?" While these issues are often part of the treatment plan of similar conditions such as Cystic Fibrosis or non CF bronchiectasis there are specific issues that need consideration when they occur in PCD that medical personnel and families should be aware of.
The resource will be developed in conjunction with the three PCD treatment centers in Australia in Perth, Sydney and Melbourne with the assistance and advice of PCD Australia. As principally the resource will aimed at medical people involved with PCD diagnosis and treatment it will be positioned on a stand alone platform that will allow linkage from any medical site such as GP training platforms, TSANZ clinical guidelines, local health services or hospital clinical practice guidelines. It will also be referenced on the PCD Australia website as a resource available for medical personnel.
PCD is increasingly being diagnosed as improved access to diagnostic facilities and increased medical awareness of the condition occurs. While relatively uncommon, evidence from international studies suggests that with improved access to diagnostic facilities the number of cases of PCD will not only increase but the actual incidence of PCD will become better defined and generally more frequent than previously identified. Increased medical awareness of PCD and wider understanding of the principals of specific treatment issues in PCD will improve lung health for patients with PCD by providing earlier diagnosis, earlier initiation of targeted therapy and avoidance of ineffective therapy.
Funds available if this application is successful would be allocated to development of the web platform and preparation of the actual content of the resource including video recording and editing.
1) Towards an earlier diagnosis of Primary Ciliary Dyskinesia?
Kuehni CE, Lucas JS.
Annals of American Thoracic Society 2016; 13(8);1239
2) Diagnosis of PCD; potential options for resource poor countries
Rumman N, Jackson C, Collins S, Goggin P, Coles J, Lucas JS.
European Respiratory Review 2017; 26(143)
3) When to suspect PCD in Children
Fitzgerald D, Shapiro A.
Paediatric Respiratory Reviews 2016; 18:3-7
4) Primary ciliary Dyskinesia in Adults
Honore I, Burgel PR.
Revue des maladies Respiratoires 2016: 33(2) 165-89.
5) PICADAR: A diagnostic predictive tool for primary ciliary dyskinesia
Behan l, Dimitrov BD, Keuhni CE, Hogg C, Carroll M, Evans MH, Goutaki M, Harris A,
Packham S, Walker WT, Lucas J.
European Respiratory Journal 2016 47(4) 1103-12.
Dr Phil Robinson is a pediatric lung specialist at the Royal Children's Hospital in Melbourne Australia. In 2013 he established a state wide diagnostic service, only the second in Australia, for th...