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

Objective In 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). Design Multi-centre service evaluation of the English National Management PCD Service. Setting Four nationally commissioned PCD centres in England. Patients 333 children with PCD reviewed in the Service in 2015; lung function data were also compared to 2970 children with CF. Results Median age at diagnosis for PCD was 2.6 years, significantly lower in children with situs inversus (1.0 vs 6.0 years, p<0.0001). Compared with national data from the CF Registry, mean (SD) %predicted FEV1 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 BMI had lower FEV1 (p<0.001). One third of children had positive respiratory cultures at review, 54% of these grew Haemophilus influenzae. Conclusions We 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

Measuring health-related quality of life for child maltreatment: a systematic literature review

<p>Abstract</p> <p>Background</p> <p>Child maltreatment causes substantial morbidity and mortality in the U.S. Morbidity associated with child maltreatment can reduce health-related quality of life. Accurately measuring the reduction in quality of life associated with child maltreatment is essential to the economic evaluation of educational programs and interventions to reduce the incidence of child maltreatment. The objective of this study was to review the literature for existing approaches and instruments for measuring quality-of-life for child maltreatment outcomes.</p> <p>Methods</p> <p>We reviewed the current literature to identify current approaches to valuing child maltreatment outcomes for economic evaluations. We also reviewed available preference-based generic QOL instruments (EQ-5D, HUI, QWB, SF-6D) for appropriateness in measuring change in quality of life due to child maltreatment.</p> <p>Results</p> <p>We did not identify any studies that directly evaluated quality-of-life in maltreated children. We identified 4 studies that evaluated quality of life for adult survivors of child maltreatment and 8 studies that measured quality-of-life for pediatric injury not related to child maltreatment. No study reported quality-of-life values for children younger than age 3.</p> <p>Currently available preference-based QOL instruments (EQ-5D, HUI, QWB, SF-6D) have been developed primarily for adults with the exception of the Health Utilities Index. These instruments do not include many of the domains identified as being important in capturing changes in quality of life for child maltreatment, such as potential for growth and development or psychological sequelae specific to maltreatment.</p> <p>Conclusion</p> <p>Recommendations for valuing preference-based quality-of-life for child maltreatment will vary by developmental level and type of maltreatment. In the short-term, available multi-attribute utility instruments should be considered in the context of the type of child maltreatment being measured. However, if relevant domains are not included in existing instruments or if valuing health for children less than 6 years of age, direct valuation with a proxy respondent is recommended. The choice of a proxy respondent is not clear in the case of child maltreatment since the parent may not be a suitable proxy. Adult survivors should be considered as appropriate proxies. Longer-term research should focus on identifying the key domains for measuring child health and the development of preference-based quality-of-life instruments that are appropriate for valuing child maltreatment outcomes.</p

The impact of primary ciliary dyskinesia on female and male fertility: a narrative review

Background: primary ciliary dyskinesia (PCD) is a genetic condition affecting the structure and function of sperm flagellum and motile cilia including those in the male and female reproductive tracts. Infertility is a commonly reported feature of PCD, but there is uncertainty as to how best to counsel patients on their fertility prognosis.Objective and rationale: this review aimed to summarize the prevalence of subfertility, possible underlying mechanisms, and the success of ART in men and women with PCD. The efficacy of ART in this patient group is relatively unknown and, hence, the management of infertility in PCD patients remains a challenge. There are no previous published or registered systematic reviews of fertility outcomes in PCD.Search methods: systematic literature searches were performed in Medline, Embase, Cochrane Library, and PubMed electronic databases to identify publications between 1964 and 2022 reporting fertility outcomes in men and women with PCD. Publications were excluded if they reported only animal studies, where gender was not specified or where subjects had a medical co-morbidity also known to impact fertility. Quality of evidence was assessed by critical appraisal and application of an appraisal tool for cross-sectional studies. The primary outcomes were natural conception in men and women with PCD, and conception following ART in men and women with PCD.Outcomes: a total of 1565 publications were identified, and 108 publications were included after screening by two independent researchers. The quality of available evidence was low. The exact prevalence of subfertility in PCD is unclear but appears to be higher in men (up to 83% affected) compared to women (up to 61% affected). Variation in the prevalence of subfertility was observed between geographic populations which may be explained by differences in underlying genotype and cilia function. Limited evidence suggests subfertility in affected individuals is likely caused by abnormal cilia motion in the fallopian tubes, endometrium and efferent ductules, and dysmotile sperm. Some men and women with PCD benefited from ART, which suggests its use should be considered in the management of subfertility in this patient group. Further epidemiological and controlled studies are needed to determine the predictors of fertility and optimal management in this patient group.Wider implications: it is important that patients with PCD receive evidence-based counselling about the potential impact of their condition on their fertility prognosis and what management options may be available to them if affected. Understanding the pathophysiology and optimal management of subfertility in PCD will increase our understanding of the role of cilia and the impact of wider secondary ciliopathies on reproduction