Primary ciliary dyskinesia (PCD) is a heterogeneous genetic disorder characterized by structural and functional abnormalities of motile cilia, leading to chronic oto-sino-pulmonary symptoms and progressive lung damage. Markers of early lung disease in PCD may help to identify individuals who may benefit from closer monitoring or earlier, more aggressive interventions. Multiple Breath Washout (MBW) offers a noninvasive assessment of ventilation distribution inhomogeneity. Whether MBW could serve as a marker of early lung disease in PCD or could be used as an efficacy endpoint in clinical trials in PCD remains to be established. This narrative review evaluates current literature on the role of MBW in early detection and tracking of PCD-related lung disease progression, focusing on its sensitivity compared to spirometry and to the results obtained in different PCD genotypes and phenotypes. Current evidence suggests that LCI outperforms spirometry in detecting early lung abnormalities, but it may also be overly sensitive in this population. The role of LCI in long-term disease monitoring remains uncertain, requiring more robust longitudinal data. Alternative MBW indices, such as S cond and S acin, might offer additional insights into the source of ventilation heterogeneity along the respiratory tract but need further validation. The correlation of MBW with imaging modalities, though inconsistent, underscores the potential value of LCI as a non-invasive marker for tracking PCD lung disease, supporting further research to confirm its clinical utility in PCD management.

Cystic Fibrosis Transmembrane Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis describes children with a positive newborn screen for whom follow-up tests do not confirm CF. Many are healthy carriers, but some will convert to a CF diagnosis; the natural history is not yet well understood. In children with chronic illnesses, unpredictable disease process and limited knowledge of long-term consequences present significant challenges to parental mental health. We wanted to understand the emotional wellbeing of parents with children with CRMS/CFSPID to guide the mental health support offered within the service. Parents were invited to complete validated depression and anxiety screening questionnaires and a short interview. Interview responses were transcribed and analysed using thematic analysis. Thirteen parents from 10 families completed questionnaires and/or the interview. Two of the parents had raised scores on the questionnaires. Our interviews revealed five themes explored here: difficulty adjusting to the label; concern about the future and its uncertainty; fluctuating states of anxiety (subthemes linked to respiratory tract infections and to medical appointments); difficulty explaining the label (subthemes to healthcare professionals and non-healthcare professionals); and satisfaction with the CRMS/CFSPID service. Our data reveal relatively benign scores using objective screening tools, but the qualitative data paints a picture of significant impact on wellbeing. We recommend screening parents from the time their child receives the label, and later the children themselves, for depression and anxiety and signposting to existing resources. Ultimately, a better understanding of the CRMS/CFSPID trajectory may enable us to give families the answers they need.

A document by Natalia Galaz-Souza. Click on the document to view its contents.

The global health emergency of COVID-19 in early 2020 placed much of the population under quarantine. Interstitial Lung Disease in childhood (chILD) was recommended to be a paediatric clinically extremely vulnerable (CEV) group in April 2020 for shielding due to the unknown health consequences of COVID-19 in children with chronic respiratory conditions. This qualitative longitudinal research study explores how chILD parents in the UK experienced COVID-19 lockdown from over two interview time points. Participants ( n = 8) were recruited from chILD patient organisations and online communities. Interview one focused on the period between January 2020 to July 2020, gaining personal insight into respondent’s experience of lockdowns, which included questions on support systems and media coverage of COVID-19. The second interview asked how respondents managed further UK lockdowns between September 2020 and May 2021. The main themes were uncertainty and adaptation. Respondents described how they navigated the UK lockdowns and undertook various risk management strategies for pandemic isolation. Once these were established, routine and positive family bonding was reported, along with a reluctant acceptance of the COVID-19 virus and continued shielding. As new COVID-19 information emerged, risk management strategies changed or remained for some respondents, bringing a feeling of living with COVID-19 as a ‘new’ normal. Understanding the unique insights people with rare diseases such as chILD face during a global pandemic adds to policy and healthcare literature. Recommendations include further study of caregiver traits and resilience, essential facets of positive pandemic adaptation.

Pre-school wheeze is very common and often difficult to treat. Most children do not require any investigations, only a detailed history and physical examination to ensure an alternative diagnosis is not being missed; the differential diagnosis, and hence investigation protocols for the child in whom a major illness is suspected, shows geographical variation. The pattern of symptoms may be divided into episodic viral and multiple trigger to guide treatment, but the pattern of symptoms must be re-assessed regularly. However, symptom patterns are a poor guide to underlying pathology. Attention to the proper use of spacers, and adverse environmental exposures such as tobacco smoke exposure, is essential. There are no disease-modifying therapies, so therapy is symptomatic. This paper reviews recent advances in treatment, including new data on the place of leukotriene receptor antagonists, prednisolone for acute attacks of wheeze and antibiotics, based on new attempts to understand the underlying pathology in a way that is clinically practical.