Module 1 | | |
Demographic information | Date of birth, sex, ethnicity | 98–100 |
Diagnostic status | Current diagnosis and date, other ciliopathies | 93–95 |
Diagnostic tests performed and results |
nNO measurement: date, result, information on equipment and manoeuvre EM: date, sample quality, EM phenotype and % of affected cilia, ciliary culture HSVM: date, sample quality, beat frequency, beat pattern, ciliary culture Genetic analysis: date, technique, genes tested, result, variant nomenclature used Immunofluorescence: date, absent proteins, positive proteins
| 95–100 |
Differential diagnosis |
| 83–100 |
Baseline medical history |
Detailed history of neonatal period (symptoms, management, gestational age, birth weight, information on breastfeeding) Laterality defects (laterality status and cardiovascular malformations, tests and dates of diagnosis) Fertility problems (test performed, date and result, number of own children) Retinitis pigmentosa (date of diagnosis) Hydrocephalus (test performed, date and result) Kidney problems (problem description, date of diagnosis) Gastrointestinal problems (problem description, test performed, date of diagnosis) Upper and lower respiratory symptoms (overview of selected characteristics from the past history, e.g. age of symptom onset, bronchiectasis location and age of diagnosis, pathogens and duration of chronic upper or lower respiratory colonisation, level of hearing impairment and date of evaluation) Previous surgical interventions related to PCD Other PCD-related problems
| 80–100 |
Non-PCD-related comorbidities | Information on atopic diseases, e.g. asthma, hay fever, atopic dermatitis, tests performed and results, medication allergies | 80–93 |
Family history | Consanguinity, PCD in the family, family history of other relevant manifestations | 98–100 |
Module 2 | | |
Vital signs | Respiratory rate, SpO2 | 93–95 |
Clinical examination | e.g. signs of dyspnoea, clubbing | 95–100 |
Lung auscultation | Pathological sounds and location | 93–95 |
Heart auscultation | Description of pathological findings | 80–93 |
Module 3 | | |
Examination of the nose | Discharge and aspect, mucosa, polyps, other findings | 80–95 |
Examination of the sinuses | Facial pain/sensitivity | 93–95 |
Examination of the ears | Discharge and aspect, otoscopy, audiometry and tympanometry findings | 95–100 |
Module 4 | | |
Growth measurements | Height, weight, date of measurement | 98–100 |
Lung function |
Spirometry (date and several indices) Plethysmography (date and several indices) Lung diffusion testing (date and DLCO result) Inert gas washout measurements (date, type of test, type of gas and concertation, number of trials, several indices) Exhaled breath analyses (date and FeNO result) Information on bronchodilation testing (pre- and post-results) Information on quality of test performed and references used
| 93–100 |
Imaging (date and findings) |
Chest radiography (date, findings, e.g. atelectasis, infiltrations, bronchial thickening) Chest CT (date, findings, e.g bronchiectasis, atelectasis, infiltrations, lobar collapse, mucus plugging, location of bronchiectasis, Brody II score) Lung MRI (date, findings, e.g bronchiectasis, atelectasis, infiltrations, lobar collapse, mucus plugging, location of bronchiectasis) Sinus radiography (date and findings) Sinus CT (date, findings and location: aplasia, hypoplasia, bone thickening, Lund–Mackay score)
| 95–100 |
Microbiology | Date of culture, type of sample, isolated pathogens, antibiotic resistance | 95–100 |
Module 5 | | |
Hospitalisations and surgeries | Reason for hospitalisation and numbers of hospitalisation days | 93–95 |
Medication |
Antibiotics for acute infection (diagnosis, antibiotic class, route, length of treatment) Prophylactic antibiotics (antibiotic class, route, dosage, start date) Oxygen supplementation/ventilation (type and frequency of ventilation) Other prescribed medication (e.g. bronchodilators, corticosteroids) Relevant vaccinations (type and date of flu and pneumococcal vaccine)
| 93–100 |
Physiotherapy |
Upper airways management (type and frequency of intervention) Lower airways management (type and frequency of interventions performed routinely and during exacerbations, nebulisation of lower airways, routine visits to professional physiotherapist) Compliance to treatment Exercise recommendations
| 80–95 |
Module 6 | | |
Symptoms from the upper airways and ears | Description, severity and periodicity:
chronic nose symptoms headaches ear symptoms snoring
| 93–100 |
Symptoms from the lower airway | Description, severity and periodicity:
cough sputum production wheezing shortness of breath chest pain
| 95–100 |
General symptoms | e.g. fever | 93–95 |
Module 7 | | |
Daily activities | Information on working status, days off work/school because of PCD, sports | 80–95 |
Smoking | Active, passive, type and frequency | 93–95 |
Nutrition | Appetite, dietary supplements | 85–93 |
Environment | Information on neighbourhood traffic, condensation/mould in the house | 80–85 |