Diagnosis and management of children with primary ciliary dyskinesia

Harris, Amanda

doi:10.7748/ncyp.2017.e936

Cited by 4 publications

(2 citation statements)

References 23 publications

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“…The diagnosis of PCD was confirmed by a specialist PCD diagnostic MDT, in line with European Respiratory Society (ERS) consensus guidelines 14 15. Annual reviews were carried out to a standardised service specification 14 16. To ensure that children received similar care across centres, national guidelines were developed, teams met regularly to discuss clinical cases and clinical outcome data were audited.…”

Section: Methodsmentioning

confidence: 99%

Clinical features and management of children with primary ciliary dyskinesia in England

et al. 2020

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ObjectiveIn England, the National Health Service commissioned a National Management Service for children with primary ciliary dyskinesia (PCD). The aims of this study were to describe the health of children seen in this Service and compare lung function to children with cystic fibrosis (CF).DesignMulti-centre service evaluation of the English National Management PCD Service.SettingFour nationally commissioned PCD centres in England.Patients333 children with PCD reviewed in the Service in 2015; lung function data were also compared with 2970 children with CF.ResultsMedian age at diagnosis for PCD was 2.6 years, significantly lower in children with situs inversus (1.0 vs 6.0 years, p<0.001). Compared with national data from the CF Registry, mean (SD) %predicted forced expiratory volume in one second (FEV1) was 76.8% in PCD (n=240) and 85.0% in CF, and FEV1 was lower in children with PCD up to the age of 15 years. Approximately half of children had some hearing impairment, with 26% requiring hearing aids. Children with a lower body mass index (BMI) had lower FEV1 (p<0.001). One-third of children had positive respiratory cultures at review, 54% of these grew Haemophilus influenzae.ConclusionsWe provide evidence that children with PCD in England have worse lung function than those with CF. Nutritional status should be considered in PCD management, as those with a lower BMI have significantly lower FEV1. Hearing impairment is common but seems to improve with age. Well-designed and powered randomised controlled trials on management of PCD are needed to inform best clinical practice.

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Section: Methodsmentioning

confidence: 99%

Clinical features and management of children with primary ciliary dyskinesia in England

et al. 2020

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“…Rare respiratory diseases who do have access to specialist centres and funded co‐ordinated care, cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) use the “Ready Steady Go” transition programme 9,10 . “Ready Steady Go” is disease agnostic and recommended by National Institute for Health and Care Excellence 11 ; however, not all hospitals adopt this as it requires a co‐ordination of communication between pediatric and adult teams 12 .…”

Section: Introductionmentioning

confidence: 99%

Experiences of UK‐based adult transition services for interstitial lung disease in childhood: “There's a lot less cushioning”

Gilbert

Bennett

Brown

et al. 2023

Pediatric Pulmonology

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Interstitial lung disease in childhood (chILD) is rare and no longer purely a childhood issue as many survive into adulthood, and so have to transition from pediatric to adult healthcare services. Transition is a significant life event that has the potential to impact on physical and mental health outcomes. The European Respiratory Society (ERS) statement on chILD transition highlighted the lack of standardised transition services for chILD transition resulting in a haphazard process. This qualitative study explores how young people and parents in the United Kingdom experienced transition from paediatric to adult healthcare services for chILD. Participants (n = 7) were recruited from chILD patient organisations and online communities. We focused on the experience of transition exploring if there were any information packs or support provided for the transition. Such support may be generic, such as “Ready Steady Go” which provides a systematic approach to transition and disease‐specific literature. These latter have not been developed for ILD. Data were analysed by constructivist grounded theory. We present a lived experience of transition with themes of lack of transition preparation and planning, challenges of adapting to adult services, and a changing healthcare scene. Due to the complexity of chILD, parents discussed their need to remain, in part, as an advocate for the young person. Respondents provided recommendations for how transition could be improved along with tips for young people who are new to the transition process, which include educating oneself about the condition, learning medical terminology, and reaching out for support.

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Genetics of male infertility

2018

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Male infertility is a multifactorial pathological condition affecting approximately 7% of the male population. The genetic landscape of male infertility is highly complex as semen and testis histological phenotypes are extremely heterogeneous, and at least 2,000 genes are involved in spermatogenesis. The highest frequency of known genetic factors contributing to male infertility (25%) is in azoospermia, but the number of identified genetic anomalies in other semen and aetiological categories is constantly growing. Genetic screening is relevant for its diagnostic value, clinical decision making, and appropriate genetic counselling. Anomalies in sex chromosomes have major roles in severe spermatogenic impairment. Autosome-linked gene mutations are mainly involved in central hypogonadism, monomorphic teratozoospermia or asthenozoospermia, congenital obstructive azoospermia, and familial cases of quantitative spermatogenic disturbances. Results from whole-genome association studies suggest a marginal role for common variants as causative factors; however, some of these variants can be important for pharmacogenetic purposes. Results of studies on copy number variations (CNVs) demonstrate a considerably higher CNV load in infertile patients than in normozoospermic men, whereas whole-exome analysis has proved to be a highly successful diagnostic tool in familial cases of male infertility. Despite such efforts, the aetiology of infertility remains unknown in about 40% of patients, and the discovery of novel genetic factors in idiopathic infertility is a major challenge for the field of androgenetics. Large, international, and consortium-based whole-exome and whole-genome studies are the most promising approach for the discovery of the missing genetic aetiology of idiopathic male infertility.

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Diagnosis and management of children with primary ciliary dyskinesia

Cited by 4 publications

References 23 publications

Clinical features and management of children with primary ciliary dyskinesia in England

Clinical features and management of children with primary ciliary dyskinesia in England

Experiences of UK‐based adult transition services for interstitial lung disease in childhood: “There's a lot less cushioning”

Genetics of male infertility

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