Kartagener's syndrome: a case report.

BACKGROUND: Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in Kartagener's syndrome. CASE PRESENTATION: A 24-year-old man from Gondar town, North-West Ethiopia, presented to University of Gondar Hospital with recurrent episodes of nasal congestion with itching and paranasal discomfort, and productive cough for more than a decade. Clinical and imaging findings revealed chronic sinusitis, bronchiectasis, dextrocardia, and situs inversus. He was treated with orally administered antibiotics, mucolytic, and chest physiotherapy. He was symptomatically better with the above therapy, and started on a long-term low-dose prophylactic antibiotic. CONCLUSIONS: Patients with Kartagener's syndrome exist in Ethiopia as cases of chronic recurrent sinopulmonary infections. As there is no easy, reliable non-invasive diagnostic test for Kartagener's syndrome and the correct diagnosis is often delayed by years, it may cause chronic respiratory problems with reduced quality of life. Genetic counseling and fertility issues should be addressed once Kartagener's syndrome is diagnosed.

Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD).

BACKGROUND: Quality of life (QOL)-primary ciliary dyskinesia (PCD) is the first disease-specific, health-related QOL instrument for PCD. Psychometric validation of QOL-PCD assesses the performance of this measure in adults, including its reliability, validity and responsiveness to change. METHODS: Seventy-two adults (mean (range) age: 33 years (18-79 years); mean (range) FEV1% predicted: 68 (26-115)) with PCD completed the 49-item QOL-PCD and generic QOL measures: Short-Form 36 Health Survey, Sino-Nasal Outcome Test 20 (SNOT-20) and St George Respiratory Questionnaire (SGRQ)-C. Thirty-five participants repeated QOL-PCD 10-14 days later to measure stability or reproducibility of the measure. RESULTS: Multitrait analysis was used to evaluate how the items loaded on 10 hypothesised scales: physical, emotional, role and social functioning, treatment burden, vitality, health perceptions, upper respiratory symptoms, lower respiratory symptoms and ears and hearing symptoms. This analysis of item-to-total correlations led to 9 items being dropped; the validated measure now comprises 40 items. Each scale had excellent internal consistency (Cronbach's α: 0.74 to 0.94). Two-week test-retest demonstrated stability for all scales (intraclass coefficients 0.73 to 0.96). Significant correlations were obtained between QOL-PCD scores and age and FEV1. Strong relationships were also found between QOL-PCD scales and similar constructs on generic questionnaires, for example, lower respiratory symptoms and SGRQ-C (r=0.72, p<0.001), while weak correlations were found between measures of different constructs. CONCLUSIONS: QOL-PCD has demonstrated good internal consistency, test-retest reliability, convergent and divergent validity. QOL-PCD offers a promising tool for evaluating new therapies and for measuring symptoms, functioning and QOL during routine 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 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; 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 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; FEV1, 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.

A quality-of-life measure for adults with primary ciliary dyskinesia: QOL-PCD.

Primary ciliary dyskinesia (PCD) is characterised by chronic suppurative lung disease, rhino-sinusitis, hearing impairment and sub-fertility. We have developed the first multidimensional measure to assess health-related quality of life (HRQoL) in adults with PCD (QOL-PCD).Following a literature review and expert panel meeting, open-ended interviews with patients investigated the impact of PCD on HRQoL in the UK and North America (n=21). Transcripts were content analysed to derive saturation matrices. Items were rated for relevance by patients (n=49). Saturation matrices, relevance scores, literature review, evaluation of existing measures, and expert opinion contributed to development of a preliminary questionnaire. The questionnaire was refined following cognitive interviews (n=18).Open-ended interviews identified a spectrum of issues unique to adults with PCD. Saturation matrices confirmed comprehensive coverage of content. QOL-PCD includes 48 items covering the following seven domains: Physical Functioning, Emotional Functioning, Treatment Burden, Respiratory and Sinus Symptoms, Ears and Hearing, Social Functioning, and Vitality and Health Perceptions. Cognitive testing confirmed that content was comprehensive and the items were well-understood by respondents.Content validity and cognitive testing supported the items and structure. QOL-PCD has been translated into other languages and is awaiting psychometric testing.

Growing up with Primary Ciliary Dyskinesia in Bradford, UK: exploring patients experiences as a physiotherapist.

Primary Ciliary Dyskinesia (PCD) is a condition which causes impaired mucociliary clearance, resulting in sputum retention and recurrent respiratory tract infections. Physiotherapy, in the form of airway clearance techniques and exercise is recommended to patients with PCD to facilitate sputum clearance. As children diagnosed with PCD develop into adults, understanding their experiences of growing up with this long-term condition and undertaking physiotherapy may help to provide insight to clinicians. No previous research has been published which explores the lived experiences of children and young people with PCD. The prevalence of PCD in Bradford in the North of the UK is unusually high, signifying the importance of understanding the experiences of this patient population. This qualitative study used Interpretive Phenomenological Analysis to allow the researcher, as a physiotherapist, to investigate the lived experiences of five paediatric patients with PCD. While patients' experiences are all unique, three themes emerged across the analysis of the interviews: (1) the experiences of day to day life with the symptoms and treatment burden of PCD; (2) participants' awareness of their own symptoms and knowledge of PCD; and (3) the development of mastery skills and devolution of management from the family to the growing child. The results from this study suggested that facilitation of disease acceptance, strategies to increase patient empowerment, the use of patient-centred communication and understanding the contextualisation of patients' experiences may all help to guide clinical practice.

Psychological, cognitive and maternal stress assessment in children with primary ciliary dyskinesia.

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare disorder due to structure and functional abnormalities of respiratory cilia. There are no reports on the behavioral and psychological aspects of children and adolescents with PCD. This study was undertaken to assess the cognitive and behavioural characteristics, and the parental stress of a population of school-aged children with PCD. METHODS: Ten PCD and 34 healthy school-aged children underwent Wechsler Intelligence Scale for Children-III edition, Child Behavior Check-List questionnaire (CBCL), Parenting Stress Index-Short Form tests in order to perform a behavioural and psychological evaluation. RESULTS: PCD children showed significant behavioral and social competent problems in CBCL scale than control children, in particular with regard to internalizing problems score (P<0.001). Parental distress, parent-child interaction and total stress in the mothers of PCD patients were higher than those in the controls' parents (P<0.001). CONCLUSION: Our findings pinpoint the importance of specific psychological support in the clinical management of children with PCD.

Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children.

BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormally beating cilia. In these patients, levels of nasal nitric oxide (nNO) are lower than those observed in healthy subjects. OBJECTIVES: We identify the nNO levels in healthy pre-school uncooperative children and in PCD patients, in order the application of nNO measurement in the early identification of young children with PCD. METHODS: We measured nNO in 77 healthy children (50 uncooperative and 27 cooperative) and in 10 PCD patients. Fifteen cooperative healthy children were also asked to perform an uncooperative test. RESULTS: PCD patients presented low nNO levels (29.7+/-5.7 ppb) compared to those observed in healthy children (358.8+/-35.2 ppb; p<0.05). nNO levels were increased in healthy cooperative children (650+/-60.6 ppb; p<0.05) as compared to those uncooperative aging more than 6 month (309.1+/-45.9 ppb; p<0.05) or less (128.1+/-16.2 ppb; p<0.05). Twenty-four uncooperative children with nNO values < or = 200 ppb performed a second evaluation at least 6 months later and mean levels increased from 104.7+/-10.5 ppb to 169.9+/-19.6 ppb (p<0.05). In the 15 collaborative children nNO levels were higher during the breath holding manoeuvre (687.7+/-96.9 ppb) than during the tidal breathing manoeuvre (335.9+/-57.9 ppb; p<0.05). CONCLUSIONS: Healthy children have higher nNO levels than PCD patients. In 15% of uncooperative healthy children can be found low nNO levels, similar to PCD patients, but those values increased some months later, in successive evaluations. Nasal NO may be used for PCD screening even though repeated evaluations may be necessary in young children.

Living with primary ciliary dyskinesia: a prospective qualitative study of knowledge sharing, symptom concealment, embarrassment, mistrust, and stigma.

BACKGROUND: Primary ciliary dyskinesia (PCD) is a chronic respiratory disease for which there is little psycho-social research and no qualitative studies of individuals living with the condition. A questionnaire-based survey in 2003 found evidence of stigmatisation in some individuals with PCD. Although the questionnaire had face and construct validity, stigmatisation was not cross-validated against interviews. The present study had the twin aims of carrying out a qualitative study of the adult patients living with PCD, and using a structured design to validate the questionnaire measure of stigma. METHODS: Interviews were carried out with six pairs of individuals with PCD, matched for sex, situs, and age, one with a high stigma score in 2003 and the other with a low stigma score. Depth-qualitative interviews were conducted by one author to explore themes surrounding the psycho-social impact of PCD using a grounded theory analysis. The interviewer was blind to the stigma scores of participants, and after the qualitative analysis was completed, the interviewer made an assessment of which member of each pair seemed the more stigmatised, after which the code was broken. RESULTS: Interviews revealed a number of themes, including other people's knowledge of PCD, the sharing of knowledge about PCD, the concealment of symptoms of PCD, embarrassment at symptoms, changes of behaviour in response to PCD, mistrust of medical care, in particular in relation to problems in diagnosis, a mistrust of general practitioners who were seen as poorly informed, and the importance of expert care at tertiary referral centres. Although stigmatisation as such was rarely mentioned directly by respondents, when the interviewer's judgement on level of stigmatisation was correlated with stigma scores from 2003, it was found that the more stigmatised member had been correctly identified in all six pairs (p = .016). CONCLUSION: Our results suggest that some people with PCD feel isolated through mistrust in medicine, and lack of knowledge surrounding PCD. Many responses to PCD can be explained in terms of stigmatisation, and in particular felt stigma. The correlation between questionnaire used several years previously, and the interviewer's judgements of stigmatisation suggest that the stigma questionnaire had both predictive validity and long-term stability. As in other chronic conditions, stigmatisation occurs only in some individuals with PCD, and the present study explores the basis of stigmatisation, and validate the questionnaire as a measure of difference in stigma.

Stigmatization, physical illness and mental health in primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) causes chronic cough, sinusitis and bronchiectasis, and half of patients also show situs inversus. The genetic basis and visible and concealed chronic symptoms provide potential for stigmatization. We describe a structural equation model linking a questionnaire measure of stigmatization to sex, age, personality (Big Five), symptoms (St George's Respiratory Questionnaire), health status (SF-36) and stress (GHQ-12). Stigma did not relate to physical symptoms or health, or to situs, but correlated with mental health and the social impact of symptoms. Neuroticism, extroversion, openness to experience, age, age at diagnosis and being female indirectly affected stigmatization via mental health.