Online Data Supplement Primary Ciliary Dyskinesia: First Health-related Quality of Life Measures for Pediatric Patients
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1 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
2 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
3 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
4 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 Having snot coming from my nose makes me feel Having a constant runny nose makes me feel Lots of people do not understand PCD Classmates do not understand PCD I don't like doing physio I don't like that my Mum and Dad are worried I don't like my friends seeing me do physio Talking about PCD makes me feel Teachers do not understand PCD When I have to explain to others what PCD is I feel When I cough at school I feel I miss school because of PCD Having PCD makes me feel frustrated Having PCD is Sometimes I find it difficult to sleep because of PCD Having PCD makes me feel sad Having PCD makes me feel angry Therapy gets in the way with the amount of time I have to spend with friends Trying to understand PCD is difficult When I think of my airway clearing treatment, I feel PCD makes me feel tired I don't like taking my medicine when away from home Keeping up with my friends when they are playing sport is hard for 3.09 me PCD affects my senses of taste and smell I miss parties because of PCD Going to the doctors makes me feel 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
5 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 Embarrassment from coughing Embarrassment from running nose Distress from having a frequently blocked nose Missing school due to PCD Performing physiotherapy / airway clearance in front of others causes embarrassment Frustration about having PCD Concern about future due to PCD Reluctance to tell others about having PCD Therapy is not enjoyable Worry that PCD will make it more difficult to find a job after college Concern about always requiring treatment due to PCD Irritation from parents nagging about treatments Distress from coughing during the day Taking therapy several times a day Dislike taking / doing treatments away from home PCD causes parents stress Stress of fitting in treatment every day Therapy (e.g. physiotherapy) takes up a lot of time during the day Anger about having PCD Sadness about having PCD Frustration that loved ones worry about my PCD Affect of PCD on school attendance levels PCD affects self-esteem PCD causes stress Classmates not understanding PCD Teachers not understanding PCD Distress from ugly coloured substance running from nose PCD causes family stress Emotional stress from symptoms of PCD PCD symptoms cause tiredness Distress from coughing during sport at school Worry that PCD will make it more difficult to find a partner Dislike doing airway clearance treatment Lack of confidence (compared to other teens) in social situations due to PCD Affect of doctors appointments on school attendance levels E5
6 Therapy interferes with the amount of time spent with friends Worrying about PCD The general public does not understand PCD Distress from coughing during the night Irritation that my parents need to help with me treatments Distress from cough being productive Dislike taking inhalers Being more tired than friends Frustration that parents expect me to be responsible for treatments Difficulty of doing airway clearance treatment Concern about taking antibiotics PCD causes concern about physical wellbeing Physical distress from symptoms of PCD Impact of PCD on ability to smell and taste food PCD prevents me doing things I want to Being behind at school due to PCD PCD causes concern about emotional wellbeing PCD impacts on family holidays Sleeping problems due to symptoms of PCD (e.g. blocked nose) Missing work due to PCD Inability to participate in sports / PE Distress from hearing problems 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
7 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 My child dislikes doing airway clearing treatment My child wishes his / her PCD would go away Taking therapy several times a day is cumbersome Teachers do not understand PCD My child feels embarrassed by a constant running nose My child's classmates do not understand PCD Therapy is not enjoyable for my child My child's symptoms have improved since getting a diagnosis of PCD E The general public does not understand PCD My child is reluctant to tell others about his / her PCD My child is embarrassed because of his/her coughing My child is distressed when he/she has a blocked nose I am concerned about my child's physical health because of PCD My child has difficulty hearing I am concerned that my child takes antibiotics Symptoms of PCD cause my child emotional distress PCD affects my child's school attendance levels My child is sad about having PCD My child misses school due to PCD My child is frustrated about having PCD I am worried about my child's future My child's self-esteem has been impacted by PCD It is difficult to get my child to do his / her therapy My child worries about his / her PCD
8 Doctors appointments impact my child's school attendance levels My child is affected by earache / dull ear I worry about my child's PCD PCD (e.g. cough, shortness of breath) affects my child's ability to exercise / play My child is distressed by ugly coloured stuff from his / her nose My child is often tired because of the symptoms of PCD My child is distressed when he/she coughs during sport at school My child is distressed because he/she coughs during the day PCD impacts on my child's ability to smell and taste food My child is distressed when coughing is productive My child is distressed because he/she coughs during the night My child dislikes taking his / her inhalers My child is worried about his / her future Therapy interferes with the amount of time my child has to play with friends My child's PCD impacts on family activities It is stressful for me to have to fit in treatment for my child every day My child's PCD impacts on family holidays I am concerned about my child's emotional health because of PCD PCD affects my child's ability to participate in PE / sports Symptoms of PCD cause my child physical distress PCD affects my child's appetite I have difficulty helping with airway clearance treatment My child commonly suffers from chest infections and has to be admitted to hospital My child has sleeping problems (e.g. due to symptoms of PCD) My child has difficulty doing airway clearance treatment My child is angry about having PCD My child's PCD causes me stress E8
9 PCD affects my child's ability to take part in social activities I miss work due to my child's PCD My child is not as confident as other children in social situations because of PCD PCD affects my child's enjoyment of eating My child has been bullied because of PCD My child has difficulty concentrating in school My child feels left out in social activities because of PCD My child's PCD causes my family stress My child feels left out in physical activities because of PCD My child's PCD causes my partner stress My child is behind at school due to PCD PCD affects my child's ability to learn at school 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
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