Early detection is critical to achieving optimal outcomes in children with congenital cataract. We hypothesized that detection of congenital cataract in preterm infants would be delayed compared with ...term/post-term peers due to delayed delivery of whole population child health interventions. Secondary analysis of data using a nested case-control study approach in a prospective population-based cohort study. Inclusion criteria comprised children diagnosed with congenital cataract requiring surgical intervention during the first two years of life in UK and Ireland in 2009 and 2010. Association between late detection (after eight weeks post-natal age, ie outside the neonatal and infant eye national screening programme) of cataract and preterm birth (gestational age less than 37 weeks) was assessed using multivariable logistic regression. Of 186 children with congenital cataract, 17 children were born preterm (9%, gestational age range 24-37weeks). Neonatal detection occurred in 64/186 (34%), and late detection in 64 children (34%). Late detection was independently associated with premature birth, specifically moderate/late preterm birth (adjusted odds ratio 3.0, 95%CI 1.1 to 8.5). Our findings suggest that, despite enhanced eye surveillance being recommended for those born moderate/late preterm (32+ weeks gestational age, ie not eligible for retinopathy of prematurity screening), congenital cataract is not being effectively detected through the routine screening programme for this vulnerable group. It is necessary to improve the effectiveness of the screening programme, and care must be taken to ensure that competing health care needs of preterm children do not prevent universal child health interventions.
The presence of these large deposits—aggregates of polymorphonuclear cells, lymphocytes, and epithelioid cells—suggests granulomatous disease indicating differential diagnoses and investigations. ...Prompt diagnosis and management of the associated systemic disease, with coordinated care involving specialists, affords the best opportunity of disease control, and reduced burden of avoidable later-life morbidity and disability. The funders had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; or decision to submit the manuscript for publication.
We investigated glaucoma related adverse events, predictors and impact at 5 years following surgery in the IoLunder2 cohort METHODS: Population based observational cohort study of children undergoing ...cataract surgery aged 2 years or under between January 2009 and December 2010. Glaucoma was defined using internationally accepted taxonomies based on the consequences of elevated intraocular pressure (IOP). Glaucoma related adverse events were any involving elevated IOP. Multivariable analysis was undertaken to investigate potential predictors of secondary glaucoma with adjustment for within-child correlation in bilateral cataract. Unilateral and bilateral cataract were analysed separately.
Complete follow-up data were available for 235 of 254, 93% of the inception cohort. By 5 years after primary cataract surgery, 20% of children with bilateral cataract and 12% with unilateral had developed secondary glaucoma. Glaucoma related complications had been diagnosed in 24% and 36% of children, respectively. Independent predictors of glaucoma were younger age at surgery (adjusted OR for reduction of week in age: 1.1, 95%C I 1.1 to 1.2, p<0.001); the presence of significant ocular comorbidity (adj OR 3.2, 95% CI 1.1 to 9.6, p=0.01); and shorter axial length (adj OR for each mm 1.7, 95% CI 10.0 to 1, p=0.05) for bilateral cataract. Shorter axial length was the single independent factor in unilateral disease (adj OR 9.6, 95% CI 1.7 to 52, p=0.009) CONCLUSIONS: Both younger age at surgery (the strongest marker of ocular 'immaturity') and smaller ocular size (a marker of both immaturity and developmental vulnerability) can be used to identify those at greatest risk of glaucoma due to early life cataract surgery.
Addressing childhood visual disability is an international priority, with data on causes needed to plan, implement and evaluate public health and clinical care. We have examined the contribution of ...'avoidable' blinding disorders to childhood visual impairment, severe visual impairment and blindness (VI/SVIBL) in the UK.
National prospective observational longitudinal study, the British Childhood Visual Impairment and Blindness Study 2 (BCVIS2), of children (aged 18 years or under) newly diagnosed with vision worse than 0.48 logMAR (logarithm of the minimum angle of resolution) or equivalent in both eyes. Proportions of children with an 'avoidable' disorder comprising either a
(isolated disorders with an effective intervention which reduces disease incidence) or
(isolated eye or vision disorders for which there are routinely available effective interventions able to improve vision or halt progressive visual loss) are reported.
Of the 784 children within BCVIS2, isolated potentially preventable disorders were present in only 17% (132/784) and treatable disorders in an additional 13% (99/784). The most common treatable causes were cataract, retinopathy of prematurity and glaucoma. Of the 132 children with potentially preventable disease, 64 had hypoxic-ischaemic encephalopathy. Non-accidental injury accounted for almost two-thirds (11/16, 69%) of those with VI/SVIBL due to injury.
Despite significant progress in the past decades in high-income countries, there remains a need to be vigilant about implementing preventive strategies and treatments. Attention to disorders that are currently neither preventable nor treatable remains a priority in these settings and will become increasingly important in lower-income and middle-income countries undergoing economic transition.
Necessity driven organisational change in the post-pandemic landscape has seen health care providers adopting innovations to manage and process health data. These include the use of 'real-world' ...datasets of routinely collected clinical information, enabling data-driven delivery. Rare disease risks being 'left-behind' unless our clinical and research communities engage with the challenges and opportunities afforded by the burgeoning field of health data informatics. We address the challenges to the meaningful use and reuse of rare disease data, and, through a series of recommendations around workforce education, harmonisation of taxonomy, and ensuring an inclusive health data environment, we highlight the role that those who manage rare disease must play in addressing them.
Anterior segment optical coherence tomography (AS-OCT) assessment of anterior chamber inflammation is an emerging tool. We describe the performance of AS-OCT in a paediatric population.
A ...mixed-methods prospective study, using routine clinical assessment as reference standard, and AS-OCT, with Tomey CASIA2 or Heidelberg Spectralis HS1, as index test, with data collected on patient perceptions of imaging. Repeatability, diagnostic indices, responsiveness to clinical change and clinical correlations of imaging-based metrics (image cell count, size, density and brightness) were assessed, with construction of receiver operated characteristic curves. Exploratory thematic analysis of responses from families was undertaken.
A total of 90 children (180 eyes) underwent imaging. Bland Altman limits of agreement for CASIA2 repeatability ranged from +17 cells (95% CI 13.6 to 21.1) to -19 cells (95% CI -15.6 to -23.2) and HS1 from +1 (95% CI 0.9 to 1.2) to -1.0 (-1.2 to -0.8) cells. CASIA2 imaging had higher sensitivity of 0.92 (95% CI 0.78 to 0.97) vs HS1 imaging 0.17 (95% CI 0.07 to 0.34), with positive correlation between clinical grade and CASIA2 cell count (coefficient 12.8, p=0.02, 95% CI 2.2 to 23.4). Change in clinical grade at follow-up examinations correlated with change in image based 'cell' count (r
=0.79, p<0.001). Patients reported a potential positive impact of seeing their disease activity.
Our findings suggest that OCT-based imaging holds the promise of deeper understanding of disease, improved patient experience and more granular monitoring of activity with resultant improved outcomes, but further work is needed to refine acquisition and analysis protocols.
Botulinum toxin injection chemodenervation is a well-established intervention for adult strabismus, and has also been recognised as an effective alternative to routine incisional surgery for ...paediatric disease. We aimed to investigate the temporal patterns of practice, indications and outcomes of chemodenervation for paediatric strabismus at national and tertiary centre level.
Retrospective study using routinely collected patient data: Hospital Episode Statistics (HES) data were used to identify children undergoing non-incisional strabismus procedures in England from 2007 to 2016. Single-centre retrospective data on children undergoing botulinum toxin injections (Dysport® 2.5 units/ 0.1ml) as an isolated intervention (not involving incisional procedures) was undertaken to identify indications and outcomes. Successful outcome was defined as deviation <11 prism dioptres (PD).
Between 2007 and 2016, there was no increase in the proportion of childhood strabismus involving non-incisional procedures. Amongst 150 children undergoing chemodenervation for strabismus within the tertiary centre, the most common diagnoses were acute onset esotropia (n = 34), infantile esotropia (n = 16) and consecutive exotropia (n = 15). Median age at injection was 8.5 years (range 0.9-15 years), and median follow up 12 months (6 months-11 years). Success rates differed by diagnosis, from 66% (non or partially accommodative esotropia) to 0% (congenital cranial disorders). Adverse events were seen in 62/150, 41%, most commonly transient ptosis (39%, n = 58). Overcorrection was seen in 14/119, 13%. Mild subconjunctival haemorrhage (n = 2) was the only other adverse event.
Botulinum toxin for childhood strabismus has an acceptable safety profile, and considerable potential therapeutic benefit. However, nationally there has been no increased uptake of chemodenervation non-incisional procedures. Further prospective studies are necessary to understand the predictors of outcome within the separate clinical subgroups, to guide clinical decision making.
Investigate if impaired vision is associated with reduced levels and differences in types of physical activity (PA) to identify barriers or enablers to achieving healthy PA levels.
Data from the ...Millennium Cohort Study of children born in the UK in 2000-2001 and followed-up to age 14 years (
=11 571). Using parental report on eye conditions coded by clinicians, children were categorised as having no, unilateral or bilateral impaired vision. Outcomes included objective accelerometer-derived time spent in moderate-to-vigorous physical activity (MVPA), and 16 PA types reported by parents, teachers and/or participants, covering physical education (PE), organised sports, self-organised sports and hobbies.
Overall, 50% of 7-year-olds and subsequently 41% as 14-year-olds achieved the internationally recommended level of ≥60 MVPA min/day, irrespective of vision status, and mainly attributable to PE and organised sports. Bilateral impaired vision (vs none) was associated with parent-reported difficulties with PE (adjusted OR, 4.67; 95% CI, 2.31 to 9.41), self-rated poor ability in PE (3.21; 1.44 to 7.15) and
enjoy indoor PA (0.48; 0.26 to 0.88). Unilateral impaired vision was associated with both parent-rated difficulties (1.80; 1.26 to 2.59) and teachers' perception of low ability in PE (2.27; 1.57 to 3.28), and reduced odds of high participation in organised sports (0.77; 0.59 to 0.99). Age-related trajectories showed suboptimal PA in childhood tracked into adolescence, with no difference by vision status.
Population-wide programmes to increase PA levels in children should pay special attention to those with impaired vision and include early interventions to encourage participation and confidence in PE and organised sports, starting in primary school and maintained afterwards.
To determine the incidence, causes and neurodevelopmental impact of severe microcephaly (head circumference <-3SD) up to age 2 years.
Binational active paediatric surveillance study undertaken in ...2017-2018 to identify and characterise new diagnoses of severe microcephaly.
UK and Ireland.
Infants aged under 12 months at diagnosis.
Observational study.
Incidence, aetiology and neurodevelopmental outcomes at age 2 years.
Fifty-nine infants met the case definition, of whom 30 (51%) were girls; 24 (41%) were born preterm (<37 weeks' gestation); and 34 (58%) were of 'white' ethnicity. Eight (14%) children died before 12 months of age. Incidence of severe microcephaly was 5.5 per 100 000 infants (95% CI 4.0 to 7.3). Higher relative risk (RR) was associated with preterm birth (RR 7.7, 95% CI 3.8 to 15.1) and British Asian ethnicity (RR 3.6, 95% CI 1.6 to 7.8). Microcephaly was mainly due to genetic causes (59%), brain ischaemia/hypoxia (10%) and congenital infection (8%), and 19% remained undetermined. Each child was referred on average to eight specialists, and 75% had abnormal brain imaging. By 2 years of age, 55 children experienced neurodevelopmental abnormalities, including feeding problems (68%), motor delay (66%), visual impairment (37%), hearing loss (24%) and epilepsy (41%).
Although severe microcephaly is uncommon, it is associated with high mortality, complex multimorbidity and neurodisability, thus representing a significant ongoing burden for families and healthcare services. Potentially preventable causes include preterm birth, hypoxic/ischaemic brain injury and congenital infections. Clinical guidelines are essential to standardise aetiological investigation and optimise multidisciplinary management.
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