Online Data Supplement Primary Ciliary Dyskinesia: First Health-related Quality of Life Measures for Pediatric Patients Sharon D Dell, Margaret W. Leigh, Jane S Lucas, Thomas W. Ferkol, Michael R. Knowles, Adrianne Alpern, Laura Behan, Anjana M. Morris, Claire Hogg, Audrey DunnGalvin, Alexandra L. Quittner
Supplemental Files e-appendix 1. PCD North American* Clinician Focus Group Themes Physical Cough more frequent when running Functioning Stop activities because of coughing Children are involved in sports and extracurricular activities o Need to slow down during exacerbations o Can t keep up with others during exacerbations Limit physical activities due to cough Chest pain and shortness of breath during exacerbations Emotional Depression/sadness Functioning Reduced social network Anxiety about breathing or shortness of breath Prescribed Vacuum for nose Treatments Nasal saline Daily airway clearance Inhaled albuterol Antibiotics prescribed for small percentage Infections - some colonized with Pseudomonas Aeruginosa Exercise vigorous activities (trampoline, running) 30 minutes; 3 times per week Dornase alpha - for some- cost and coverage issues Inhaled corticosteroids prescribed for high percentage Oral antibiotics - bad taste Asthma medication use Ears and Hearing Chronic otitis media Children report that sounds are like listening to people under water A small percentage use some form of amplification (eg. a hearing aid; more common in adults) Speech delays are common in children Hearing improves with age, but ear problems continue Ear drainage, diffusion, and ear pain o Ear tubes - hear better Respiratory & Sinus Daily wet cough Symptoms Productive cough Nose always runny Cough-related incontinence Fatigue during exacerbation Wheezing (whistling, rattling, gurgling) Sniffles Headaches are common E2
Snoring in both children and adults (more common in adults) Daytime sleepiness Sometimes wake up coughing Feeling tired- with serious sinusitis or during exacerbation Adults have aches/chest pain due to cough Sinus surgery Polyps are not as common as in CF Post nasal drip Nasal congestion Social Functioning Keeping illness secret Runny nose leading to bullying Embarrassed to cough up phlegm Marriage- worried about finding a partner Suppressing cough (girls specifically) Embarrassed by frequent cough Concerns about contagion at school Adult infertility Bullying, teasing Looking different from others (ear drainage) Role Functioning Problems with sports, keeping up and fatigue School absences Need for therapies at school (occupational or speech therapy) Speech delays Eating & Digestion Trouble eating in infants Decreased appetite with worse symptoms Poor smell or taste (common in younger children) No appetite in morning Bowel movement or digestive problems rare Body Image Chest may be inward (pectus); girls self-conscious Growth is normal Miscellaneous 3-5% congenital heart disease Home IV use occurs in some centers Hospitalizations * Focus groups of the European Respiratory Society PCD Group generated similar themes, but eating issues were not identified as a problem in Europe. The impact of teachers, general physicians and others having limited knowledge of PCD was discussed in Europe E3
e-appendix 2: Relevance scores for children s items: A long list of potential items for inclusion in the child version of QOL-PCD was developed based on literature review, European expert focus group and in depth interviews with children. Each item on the list was scored for relevance by 23 children with PCD from the UK (using a smiley face score (1=very happy 5= very sad)). The mean (SD) scores for items that scored >2.5 are presented and the items with scores <2.5 are listed in descending order of relevance. Mean SD I wish my PCD would go away 4.50 0.913 Having snot coming from my nose makes me feel 4.35 0.775 Having a constant runny nose makes me feel... 4.35 0.647 Lots of people do not understand PCD 4.32 0.839 Classmates do not understand PCD 4.05 1.090 I don't like doing physio 3.95 1.174 I don't like that my Mum and Dad are worried 3.86 0.889 I don't like my friends seeing me do physio 3.86 1.125 Talking about PCD makes me feel 3.65 0.775 Teachers do not understand PCD 3.62 1.431 When I have to explain to others what PCD is I feel 3.57 0.843 When I cough at school I feel 3.52 0.665 I miss school because of PCD 3.50 1.371 Having PCD makes me feel frustrated 3.45 1.101 Having PCD is 3.41 0.796 Sometimes I find it difficult to sleep because of PCD 3.35 1.526 Having PCD makes me feel sad 3.33 1.017 Having PCD makes me feel angry 3.27 1.120 Therapy gets in the way with the amount of time I have to spend with friends 3.23 1.307 Trying to understand PCD is difficult 3.23 1.412 When I think of my airway clearing treatment, I feel 3.23 1.020 PCD makes me feel tired 3.17 1.435 I don't like taking my medicine when away from home 3.13 1.486 Keeping up with my friends when they are playing sport is hard for 3.09 me 1.676 PCD affects my senses of taste and smell 2.73 1.241 I miss parties because of PCD 2.68 1.359 Going to the doctors makes me feel 2.57 0.945 Items with mean scores <2.5 in descending order of relevance I have been bullied because of PCD; I sometimes find school work difficult due to PCD; I feel left out during sports because of PCD; I don't enjoy eating as much as other kids; I don't mind having PCD; I suffer from car sickness because of my PCD. E4
e-appendix 3: Relevance scores for teenage items: A long list of potential items for inclusion in the teenage version of QOL-PCD was developed based on literature review, European expert focus group and in depth interviews with teenagers. Each item on the list was scored for relevance by 22 teenagers with PCD from UK (1=not at all relevant; 5= very relevant). The mean (SD) scores for items that scored >2.5 are presented and the items with scores <2.5 are listed in descending order of relevance. Mean SD Wishing PCD would go away 4.05 1.090 Embarrassment from coughing 3.73 1.241 Embarrassment from running nose 3.73 1.241 Distress from having a frequently blocked nose 3.68.894 Missing school due to PCD 3.67 1.278 Performing physiotherapy / airway clearance in front of others causes embarrassment 3.64 1.497 Frustration about having PCD 3.55 1.143 Concern about future due to PCD 3.55 1.224 Reluctance to tell others about having PCD 3.50 1.263 Therapy is not enjoyable 3.45 1.471 Worry that PCD will make it more difficult to find a job after college 3.45 1.335 Concern about always requiring treatment due to PCD 3.45 1.224 Irritation from parents nagging about treatments 3.32 1.585 Distress from coughing during the day 3.32 1.171 Taking therapy several times a day 3.27 1.316 Dislike taking / doing treatments away from home 3.23 1.445 PCD causes parents stress 3.23 1.270 Stress of fitting in treatment every day 3.23 1.541 Therapy (e.g. physiotherapy) takes up a lot of time during the day 3.18 1.500 Anger about having PCD 3.18 1.140 Sadness about having PCD 3.18 1.140 Frustration that loved ones worry about my PCD 3.14 1.424 Affect of PCD on school attendance levels 3.14 1.490 PCD affects self-esteem 3.09 1.477 PCD causes stress 3.09 1.377 Classmates not understanding PCD 3.09 1.109 Teachers not understanding PCD 3.05 1.253 Distress from ugly coloured substance running from nose 3.05 1.133 PCD causes family stress 3.05 1.290 Emotional stress from symptoms of PCD 3.00 1.195 PCD symptoms cause tiredness 2.95 1.463 Distress from coughing during sport at school 2.95 1.527 Worry that PCD will make it more difficult to find a partner 2.95 1.495 Dislike doing airway clearance treatment 2.95 1.605 Lack of confidence (compared to other teens) in social situations due to PCD 2.91 1.444 Affect of doctors appointments on school attendance levels 2.91 1.231 E5
Therapy interferes with the amount of time spent with friends 2.86 1.612 Worrying about PCD 2.86 1.125 The general public does not understand PCD 2.86 1.125 Distress from coughing during the night 2.82 1.332 Irritation that my parents need to help with me treatments 2.82 1.563 Distress from cough being productive 2.81 1.123 Dislike taking inhalers 2.81 1.401 Being more tired than friends 2.77 1.378 Frustration that parents expect me to be responsible for treatments 2.77 1.572 Difficulty of doing airway clearance treatment 2.77 1.478 Concern about taking antibiotics 2.77 1.270 PCD causes concern about physical wellbeing 2.73 1.279 Physical distress from symptoms of PCD 2.73 1.352 Impact of PCD on ability to smell and taste food 2.68 1.393 PCD prevents me doing things I want to 2.64 1.560 Being behind at school due to PCD 2.64 1.590 PCD causes concern about emotional wellbeing 2.59 1.182 PCD impacts on family holidays 2.57 1.248 Sleeping problems due to symptoms of PCD (e.g. blocked nose) 2.55 1.438 Missing work due to PCD 2.53 1.744 Inability to participate in sports / PE 2.50 1.504 Distress from hearing problems 2.50 1.371 Items with mean scores <2.5 in descending order of relevance PCD has financial implications; Distress from earache / dull ear; PCD affects my ability to take part in social activities; Inability to take part in social activities due to PCD (e.g. cough, shortness of breath); PCD impacts on family activities; Inability to exercise due to PCD; Feeling left out of physical activities due to PCD; Concern about body height and shape being different from friends and classmates; Dislike seeing doctors; Feeling left out of social activities due to PCD; Being bullied due to PCD; PCD affects my ability to learn at school; Being uncomfortable attending outpatient appointments; Difficulty finding information on PCD; Difficulty concentrating at school; Effect of PCD on appetite; Distress from dizziness; Effect of PCD on enjoyment of eating; Distress from facial pain / pressure; Effect of PCD on ability to learn new things. E6
e-appendix 4: Relevance scores for parent proxy items: A long list of potential items for inclusion in the parent proxy version of QOL-PCD was developed based on literature review, European expert focus group and in depth interviews with parents of children with PCD. Each item on the list was scored for relevance by 48 parents of children with PCD from UK (1=not at all relevant; 5= very relevant). The mean (SD) scores for items that scored >2.5 are presented and the items with scores <2.5 are listed in descending order of relevance. Mean SD My child's doctor provides good care 4.24 0.916 My child dislikes doing airway clearing treatment 4.17 1.049 My child wishes his / her PCD would go away 4.07 1.162 Taking therapy several times a day is cumbersome 4.02 1.183 Teachers do not understand PCD 3.87 1.076 My child feels embarrassed by a constant running nose 3.85 1.304 My child's classmates do not understand PCD 3.85 1.203 Therapy is not enjoyable for my child 3.74 1.276 My child's symptoms have improved since getting a diagnosis of PCD E7 3.67 1.289 The general public does not understand PCD 3.65 1.376 My child is reluctant to tell others about his / her PCD 3.59 1.185 My child is embarrassed because of his/her coughing 3.58 1.269 My child is distressed when he/she has a blocked nose 3.58 1.108 I am concerned about my child's physical health because of PCD 3.56 1.246 My child has difficulty hearing 3.54 1.473 I am concerned that my child takes antibiotics 3.53 1.403 Symptoms of PCD cause my child emotional distress 3.52 1.167 PCD affects my child's school attendance levels 3.51 1.397 My child is sad about having PCD 3.48 1.260 My child misses school due to PCD 3.47 1.487 My child is frustrated about having PCD 3.45 1.299 I am worried about my child's future 3.41 1.224 My child's self-esteem has been impacted by PCD 3.41 1.275 It is difficult to get my child to do his / her therapy 3.40 1.388 My child worries about his / her PCD 3.39 1.220
Doctors appointments impact my child's school attendance levels 3.36 1.293 My child is affected by earache / dull ear 3.33 1.506 I worry about my child's PCD 3.33 1.457 PCD (e.g. cough, shortness of breath) affects my child's ability to exercise / play 3.32 1.400 My child is distressed by ugly coloured stuff from his / her nose 3.29 1.414 My child is often tired because of the symptoms of PCD 3.27 1.395 My child is distressed when he/she coughs during sport at school 3.26 1.151 My child is distressed because he/she coughs during the day 3.23 1.387 PCD impacts on my child's ability to smell and taste food 3.21 1.320 My child is distressed when coughing is productive 3.17 1.078 My child is distressed because he/she coughs during the night 3.17 1.419 My child dislikes taking his / her inhalers 3.14 1.457 My child is worried about his / her future 3.13 1.279 Therapy interferes with the amount of time my child has to play with friends 3.12 1.606 My child's PCD impacts on family activities 3.11 1.418 It is stressful for me to have to fit in treatment for my child every day 3.09 1.444 My child's PCD impacts on family holidays 3.04 1.459 I am concerned about my child's emotional health because of PCD 3.02 1.352 PCD affects my child's ability to participate in PE / sports 3.02 1.511 Symptoms of PCD cause my child physical distress 3.02 1.313 PCD affects my child's appetite 3.02 1.376 I have difficulty helping with airway clearance treatment 2.98 1.456 My child commonly suffers from chest infections and has to be admitted to hospital 2.98 1.589 My child has sleeping problems (e.g. due to symptoms of PCD) 2.96 1.473 My child has difficulty doing airway clearance treatment 2.96 1.398 My child is angry about having PCD 2.89 1.269 My child's PCD causes me stress 2.88 1.364 E8
PCD affects my child's ability to take part in social activities 2.88 1.468 I miss work due to my child's PCD 2.86 1.519 My child is not as confident as other children in social situations because of PCD 2.81 1.454 PCD affects my child's enjoyment of eating 2.77 1.418 My child has been bullied because of PCD 2.68 1.576 My child has difficulty concentrating in school 2.68 1.476 My child feels left out in social activities because of PCD 2.62 1.468 My child's PCD causes my family stress 2.61 1.394 My child feels left out in physical activities because of PCD 2.60 1.526 My child's PCD causes my partner stress 2.60 1.411 My child is behind at school due to PCD 2.55 1.515 PCD affects my child's ability to learn at school 2.51 1.502 Items with mean scores <2.5 in descending order of relevance My child is concerned that his / her body height and shape is different to his / her peers; It is difficult to get information on PCD; My child dislikes seeing doctors; My child has dizziness; My child is not comfortable going to outpatient appointments; I am not comfortable going to outpatient appointments. E9