Primary Ciliary Dyskinesia: First Health-related Quality of Life Measures for Pediatric Patients

Rationale: Primary ciliary dyskinesia (PCD) is a rare disease. There are no available data on disease-specific pediatric patient–reported outcomes

Development of Health-Related Quality of Life Instruments for Young Children With Disorders of Sex Development (DSD) and Their Parents

Research in disorders of sex development (DSD) is hindered by a lack of standardized measures sensitive to the experiences of affected children and families. We developed and evaluated parent proxy (children 2-6 years) and parent self-report (children ≤6 years) health-related quality of life (HRQoL) instruments for DSD. Items were derived from focus groups and open-ended interviews. Clarity and comprehensiveness were assessed with cognitive interviews. Psychometric properties were examined in a field survey of 94 families. Measures demonstrated adequate to good psychometrics, including internal consistency, test-retest reliability, convergent validity, and ability to detect known-group differences. Parents reported greatest stress on Early Experiences , Surgery , and Future Concerns scales. These instruments identify patients' and families' needs, monitor health and quality of life status, and can evaluate clinical interventions. Findings highlight the need for improved psychosocial support during the diagnostic period, better parent-provider communication, and shared decision-making. HRQoL measures are needed for older youth

Initial evaluation of the Parent Cystic Fibrosis Questionnaire--Revised (CFQ-R) in infants and young children

There is an urgent need to evaluate treatments for young children with cystic fibrosis (CF); however, efforts have been hampered by a lack of reliable, practical endpoints. To examine whether a patient-reported outcome could be reliable in children 4 to 60 months of age, we assessed the psychometric properties of the modified Parent Cystic Fibrosis Questionnaire--Revised (CFQ-R) using data from the Infant Study of Inhaled Saline (ISIS). We also characterized patterns of symptom presentation and daily functioning in children in this age range to inform future measure development. Parents (N=314) completed the CFQ-R and Treatment Adherence Questionnaire (TAQ) at five quarterly visits, as well as a weekly Parent Symptom Diary. The Parent CFQ-R demonstrated good construct validity and adequate internal consistency (α's .58-.75). Associations with age, TAQ, and Parent Symptom Diary were observed. The Treatment Burden scale demonstrated responsiveness to change. Parents were reliable observers of young children's symptoms and daily functioning, and PROs show promise for this age group. Research is needed to identify key symptoms in infants and young children with CF, and to develop a parent proxy PRO according to FDA/EMA guidelines

Challenges of Disorders of Sex Development: Diverse Perceptions across Stakeholders

BACKGROUND/AIMS: Disorders of Sex Development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. Optimal management is patient- and family-centered and delivered by interdisciplinary teams. The present pilot study elicits concerns held by important stakeholders on issues affecting young patients with DSD and their families. METHODS: Content from focus groups with expert clinicians (pediatric urologists [n=7], pediatric endocrinologists [n=10], mental health professionals [n=4]), DSD patient advocates (n=4), and interviews with parents of DSD-affected children (newborn to 6 yrs; n=11) was coded and content-analyzed to identify health-related quality of life issues. RESULTS: Key stressors varied across stakeholder groups. In general, family-centered issues were noted more than child-centered. In the child-centered domain, providers worried more about physical functioning; family and advocates emphasized gender concerns and body image. In the family-centered domain, parental concerns about medication management outweighed those of providers. Advocates reported more stressors regarding communication/information than other stakeholders. CONCLUSION: Variability exists across stakeholder groups in the key concerns affecting young children/families with DSD. Interdisciplinary DSD healthcare team development should account for varying perspectives when counseling families and planning treatment

Primary Ciliary Dyskinesia: First Health-related Quality of Life Measures for Pediatric Patients

Rationale: Primary ciliary dyskinesia (PCD) is a rare disease. There are no available data on disease-specific pediatric patient–reported outcomes. Objectives: Our objective was to create developmentally appropriate, health-related quality-of-life questionnaires (QOL-PCD) for children (6–12 yr) and adolescents (13–17 yr) with PCD and a parent proxy measure. Methods: The QOL-PCD was developed using a cross-cultural protocol-driven approach satisfying both North American and European drug regulatory agency guidelines. A conceptual framework was generated by literature review, focus groups (expert clinicians and patients/parents), and open-ended interviews with children, adolescents, and parents of patients with PCD. We recruited participants from international research consortiums, PCD clinics, and patient advocacy groups, aiming for representation of a wide spectrum of disease severity, sociodemographic status, and ethnicity. Qualitative interviews were conducted by trained and experienced research assistants and psychologists. Transcripts were content-analyzed with Atlas.ti/NVivo to assess saturation of content. A self-completed item relevance survey was administered to E.U. participants. Qualitative and quantitative data were used to construct draft instruments. Questionnaires were further refined after cognitive interviews. Measurements and Main Results: Focus groups (n = 62 experts; n = 20 patients/parents) and open-ended interviews with patients/parents (n = 69; 34 males; age at diagnosis, 0–15 yr; FEV(1), 58–118% predicted) revealed a wide spectrum of issues unique to this population. Content analysis of transcripts identified the following domains, depending on age: Respiratory Symptoms, Physical Functioning, Emotional Functioning, Treatment Burden, Ears and Hearing, Sinus Symptoms, Social Functioning, Role Functioning, Vitality, Health Perceptions, School Functioning, and Eating and Weight. Various items were retained in questionnaires, based on age and role of respondent: 37, 43, and 41 items for children, adolescents, and parent proxy, respectively. The item relevance survey (n = 57) yielded results similar to those of open-ended interviews. Cognitive testing (n = 47; 20 males; age at diagnosis, 0–11 yr; FEV(1), 49–124% predicted) confirmed that items and response choices were clear and understood by respondents, and that all relevant items were included. Conclusions: The QOL-PCD measures, developed using rigorous, protocol-driven methods and international collaborations, have demonstrated content validity and cross-cultural equivalence for implementation in English-speaking populations. Psychometric testing is underway to determine their measurement properties for evaluating clinical interventions and informing quality of care

Primary ciliary dyskinesia: first health-related quality of life measures for pediatric patients

Rationale: Primary ciliary dyskinesia (PCD) is a rare disease. There are no available data on disease-specific pediatric patient-reported outcomes. Objectives: Our objective was to create developmentally-appropriate, health-related quality of life questionnaires (QOL-PCD) for children (6-12 years) and adolescents (13-17 years) with PCD and a parent proxy measure. Methods: QOL-PCD was developed using a cross-cultural protocol-driven approach satisfying both North American and European drug regulatory agency guidelines. A conceptual framework was generated by literature review, focus groups (expert clinicians and patients/parents) and open-ended interviews with children, adolescents and parents of PCD patients. We recruited participants from international research consortiums, PCD clinics and patient advocacy groups, aiming for representation of a wide spectrum of disease severity, sociodemographic status and ethnicity. Qualitative interviews were conducted by trained and experienced research assistants and psychologists. Transcripts were content-analyzed with Atlas.ti/Nvivo to assess saturation of content. A self-completed item relevance survey was administered to European Union participants. Qualitative and quantitative data were used to construct draft instruments. Questionnaires were further refined following cognitive interviews. Measurement and Main Results: Focus groups (n=62 experts; n=20 patients/parents) and open-ended interviews with patients/parents (n=69; 34 males; age of diagnosis 0-15 years; forced expiratory volume in one second (FEV1) 58-118% predicted) revealed a wide spectrum of issues unique to this population. Content analysis of transcripts identified the following domains, depending on age: Respiratory Symptoms, Physical Functioning, Emotional Functioning, Treatment Burden, Ears &amp; Hearing, Sinus Symptoms, Social Functioning, Role Functioning, Vitality, Health Perceptions, School Functioning, and Eating &amp; Weight. Different items were retained in questionnaires based on age and role of respondent: 37, 43 and 41 items for children, adolescents, and parent proxy respectively. The item relevance survey (n=57) yielded similar results to open-ended interviews. Cognitive testing (n=47; 20 males; age of diagnosis 0-11 years; FEV 49-124% predicted) confirmed that items and response choices were clear, understood by respondents and that all relevant items were included. Conclusions: QOL-PCD measures developed using rigorous, protocol-driven methods and international collaborations have demonstrated content validity and cross-cultural equivalence for implementation in English-speaking populations. Psychometric testing is underway to determine their measurement properties for evaluating clinical interventions and informing quality of care.<br/