The Experience of Menarche for Young People With Sensory and Motor Impairments: A Systematic Review

Young people with disabilities may face barriers to optimal management of menstrual health, including the management of menarche, a unique stage of development. This systematic review examined the barriers to and facilitators of a positive experience of menarche for young people with visual, hearing, or mobility impairments. The MEDLINE, Embase, PsychINFO bibliographic databases, and grey literature were systematically searched in February 2022 to identify relevant research. Thematic synthesis of the extracted study findings was undertaken, using a team-based approach. A total of seven primary qualitative, and 1 mixed method studies were eligible for inclusion. The themes identified through metasynthesis were: timeliness of pre-menarcheal access, with many being unaware of menarche before it occurred, leading to fear and shock at their first period; resonance, with individuals reporting positive impacts of guidance from those with similar disabilities; and frame, the impact of surrounding societal narratives on the experience of menarche. Families, and those involved in the care of children with visual, hearing, and mobility impairments should be made aware of the importance of timely and resonant menarcheal support and guidance for these individuals and of broadcasting positive surrounding narratives of menarche. This should enable a positive experience of menarche for these vulnerable young people, supporting a good trajectory for later-life menstrual health

Delayed diagnosis of congenital cataract in preterm infants: Findings from the IoLunder2 cohort study

BACKGROUND AND OBJECTIVES: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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 role of screening and surveillance in the detection of childhood vision impairment and blindness in the UK

Objective: Understanding pathways to detection for childhood visual impairment (VI) is critical for planning services. We aimed to describe patterns of detection for childhood VI. // Design: and setting Cross-sectional study using data from British Childhood Visual Impairment and Blindness Study 2. // Patients: Children newly diagnosed with VI, severe vision impairment or blindness (SVI/BL)—that is, visual acuity worse than logMAR 0.5 in both eyes—were identified through active surveillance, with data collection at diagnosis and 1 year later. Outcome: measure Method of detection of vision/eyes problem. // Results: 784 children (45%, 356 girls) were identified, of whom 313 (40%) had VI, 471 (60%) had SVI/BL. Additional non-ophthalmic disorders or impairments (VI/SVI/BL ‘plus’), were diagnosed in 72% (559/784). Of the 784, 173 children were detected through routine screening (22%), 248 through targeted examinations (32%) and 280 through family self-referral (36%). Parents and carers had only reported symptoms in 55% of children who manifested them, with evidence that families living in socioeconomically deprived areas were less likely to report concerns. Paediatricians were the professionals most likely to raise initial suspicion of visual disability. // Conclusions: Our findings show that targeted screening and surveillance is important for the detection of full spectrum childhood visual impairment (VI/SVI/BL), as a significant proportion of children will not have symptoms, or their parents or carers will not report symptoms. As paediatricians were the professionals most commonly involved in detection, it would be helpful if their core competencies included the skills needed to undertake simple assessments of vision

Pediatric uveitis: Role of the pediatrician

The challenges of childhood uveitis lie in the varied spectrum of its clinical presentation, the often asymptomatic nature of disease, and the evolving nature of the phenotype alongside normal physiological development. These issues can lead to delayed diagnosis which can cause significant morbidity and severe visual impairment. The most common ocular complications include cataracts, band keratopathy, glaucoma, and macular oedema, and the various associated systemic disorders can also result in extra-ophthalmic morbidity. Pediatricians have an important role to play. Their awareness of the various presentations and etiologies of uveitis in children afford the opportunity of prompt diagnosis before complications arise. Juvenile Idiopathic Arthritis (JIA) is one of the most common associated disorders seen in childhood uveitis, but there is a need to recognize other causes. In this review, different causes of uveitis are explored, including infections, autoimmune and autoinflammatory disease. As treatment is often informed by etiology, pediatricians can ensure early ophthalmological referral for children with inflammatory disease at risk of uveitis and can support management decisions for children with uveitis and possible underling multi-system inflammatory disease, thus reducing the risk of the development of irreversible sequelae

Avoidable childhood blindness in a high-income country: findings from the British Childhood Visual Impairment and Blindness Study 2

BACKGROUND/AIMS: 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. METHODS: 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 apotentially preventable(isolated disorders with an effective intervention which reduces disease incidence) ortreatable(isolated eye or vision disorders for which there are routinely available effective interventions able to improve vision or halt progressive visual loss) are reported. RESULTS: 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. CONCLUSION: 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

Data saves lives: optimising routinely collected clinical data for rare disease research

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

Show don’t tell: assessing the impact of co-developed patient information videos in paediatric uveitis

Background/Objectives: There is a paucity of online educational content targeting children and young people with uveitis. We evaluated the impact of a co-designed patient education video on subjective and objective understanding of childhood uveitis. Subjects/Methods: Co-designed patient education media were produced in collaboration with the Childhood Uveitis Studies steering group and the Great Ormond Street Hospital Generation R Young People’s Advisory Group and narrated by children. Patients managed within the Uveitis service at GOSH were invited to take part in a pre–post survey, undertaken immediately prior to and following viewing of a patient education video. Results: Forty-three patients participated. These were stratified according to age, duration of disease, and treatment type for analysis. Self-rated knowledge improved across all groups (p = 0.001), particularly in those with a new diagnosis of uveitis (Z = −8.124, p < 0.001). Objective knowledge scores improved across all questions, especially in younger children, those with new disease, and those on steroid only treatment (Z = −3.847, p < 0.001, Z = −3.975, p < 0.001, Z = −3.448, p < 0.001; respectively). Most participants reported the videos to be easy to understand and with the right amount of information. All stated that they learned something new. Conclusions: Patient understanding of disease and treatment is crucial to achieving the best possible outcomes for this chronic, relapsing remitting and potentially blinding disorder. Our findings data shows the potential value of co-designed patient information videos, specifically in our study benefitting younger patients and those recently diagnosed. We suggest that other clinical teams could collaborate fruitfully with patient groups to develop similar videos to target possible misinformation and potentially improve patient outcomes

Limited Utility of Keratic Precipitate Morphology as an Indicator of Underlying Diagnosis in Ocular Inflammation

Objectives: We aimed to establish the degree of consensus among clinicians on descriptors of KP morphology.// Methods: A web-based exercise in which respondents associated KP descriptors, as identified through a scoping review of the published literature, to images from different disorders. Inter-observer agreement was assessed using the Krippendorff kappa alpha metric.// Results: Of the 76 descriptive terms identified by the scoping review, the most used included “mutton-fat” (n = 93 articles, 36%), “fine/dust” (n = 76, 29%), “stellate” (n = 40, 15%), “large” (n = 33, 12%), and “medium” (n = 33, 12%). The survey of specialists (n = 26) identified inter-observer agreement for these descriptors to be poor (“stellate,” kappa: 0.15, 95% confidence interval 0.13–0.17), limited (“medium”: 0.27, 95% CI 0.25–0.29; “dust/fine”: 0.36, 95% CI 0.34–0.37), or moderate (“mutton fat”: 0.40, 95% CI 0.36–0.43; “large”: 0.43, 95% CI 0.39–0.46).// Conclusion: The clinical utility of KP morphology as an indicator of disease classification is limited by low inter-observer agreement./