Wright, Marie; (2023) Epidemiology, clinical management, and outcomes of Robin sequence in the United Kingdom and Ireland: an active surveillance study. Doctoral thesis (M.D(Res)), UCL (University College London).

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Abstract

Introduction Robin sequence (RS) is a congenital craniofacial disorder associated with upper airway obstruction (UAO) and feeding difficulties, which can occur in isolation or in conjunction with additional congenital anomalies (non-isolated RS). Disease burden can be high, including protracted hospital admissions, multiple airway and feeding interventions, and need for multidisciplinary involvement. Birth prevalence of RS throughout the United Kingdom and Republic of Ireland (UK/ROI) has not been previously investigated. Treatment options for management of UAO are varied and there is no current consensus about best practice in terms of treatment efficacy and resulting clinical outcomes. Aims This study aimed to investigate the birth prevalence, describe the approach to airway management, and explore the relationship between management and clinical outcomes over the first two years of life, amongst infants with RS in UK/ROI. Methods Active surveillance of RS was carried out throughout UK/ROI via the British Paediatric Surveillance Unit and regional cleft services over a 13-month period (01/2016 – 01/2017). Clinical data were collected by survey at initial case notification and at 12-month follow-up. The derived birth prevalence estimate was compared to data from an existing national congenital anomaly registry (CRANE Database). Results 173 cases of RS were identified from the two sources of case ascertainment. Birth prevalence of RS was 19.1 per 100,000 live births (95% CI 16.2 – 21.9/ 100,000) and was substantially higher in Scotland (37.1 per 100,000, 95% CI 21.6 – 52.7/ 100,000). Both were significantly higher than the pooled birth prevalence identified by a systematic review and meta-analysis of global birth prevalence (10.0 per 100,000 live births, 95% CI 7.3 – 13.1/ 100,000), and prevalence derived from the CRANE Database (10.8 per 100,000, 95% CI 8.5 – 13.1/ 100,000). RS carried a substantial healthcare burden: 92% of infants were admitted to hospital for median 21 days, a median of five specialist team referrals were made per child, and 94% required supplementary tube feeding and 69% an airway intervention. Nasopharyngeal airway was the main non-surgical intervention and tracheostomy the main surgical intervention for management of UAO throughout UK/ROI. Surgical airway management and non-isolated RS were associated with a range of adverse clinical outcomes. However, infants with isolated RS were also at risk of adverse outcomes: 18% had neurodevelopmental delay at follow-up and 48% experienced growth faltering. Outcomes amongst children with Stickler syndrome, the most prevalent RS-associated syndrome, were comparable to isolated RS. Conclusions Birth prevalence of RS in UK/ROI is higher than reported by many comparable epidemiological studies, which may reflect geographical differences in birth prevalence, differences in diagnostic criteria between studies, or higher case ascertainment within this study. Surgical approach to airway management is not advantageous, except in cases of severe or refractory UAO. The associated burden of disease and approach to management of RS within UK/ROI is now understood, which can be used for benchmarking purposes and to inform commissioning groups about the services that affected children require. Targets for future research include improving understanding of RS aetiology and reasons for geographical variations in birth prevalence, comparison of outcomes between types of non-surgical airway intervention, and delineating long-term neurodevelopmental trajectory.

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