Evelina London Children's Healthcare

Achondroplasia (ACH), the most common skeletal dysplasia, arises from gain-of-function variants in the fibroblast growth factor receptor 3 gene. Children with ACH experience lifelong medical, functional and psychosocial challenges requiring coordinated and anticipatory care. Although international guidance exists, the UK lacks national clinical care recommendations specific to its healthcare systems. To develop UK-specific, multidisciplinary clinical recommendations for the care of children and young people (CYP) with ACH. The UK Achondroplasia Network developed guidance in stages: stakeholder mapping of the care pathway, integration of contemporary literature with clinical expertise to draft age-specific guidance and Delphi statements, and a modified Delphi process with 25 multidisciplinary experts. The Delphi process involved two voting rounds and an in-person meeting, with consensus defined as ≥80% agreement. In the first Delphi round, all 20 statements achieved consensus; nine achieved 100% agreement. To strengthen consensus, after meeting in person, 17 statements were refined (four were divided into two statements), one created and one removed, resulting in 24 statements for Round 2; all achieved consensus, with 21 reaching 100% agreement. The guidance outlines age-specific monitoring and referral from infancy to adolescence. Recommendations address medical management of complications, psychosocial support, educational planning and transfer to adult care. These are the first UK-specific multidisciplinary recommendations for the care of CYP with ACH. Aligned with international best practices and tailored to UK healthcare systems, they support anticipatory care, promote independence and enhance health and psychosocial outcomes. The guidelines offer a foundation for service planning, standardisation and equitable care.

Children with intellectual disability are at a higher risk of presenting with behaviours that challenge. Video Interaction Guidance (VIG) is a brief, personalised, strengths-based therapy that focuses on improving the parent-child relationship and interactions. A strong parent-child relationship may reduce the risk of behaviours that challenge. Access to support is difficult for families of children with intellectual disability. Remotely delivered support may enhance access to therapy for those who might otherwise struggle to access support. To date, no definitive effectiveness trial of VIG, or remotely delivered VIG, has been conducted, including in intellectual disability. A feasibility randomised controlled trial (RCT) aimed to recruit 50 parents of a child with intellectual disability (aged 6-12) referred to specialist mental health services. Participants were randomised on a 1:1 basis to VIG plus treatment as usual (TAU) or just TAU. Measures were collected remotely at baseline, 3-month, and 6-month follow-up. A parallel economic study explored the feasibility of a future economic evaluation, while an embedded process evaluation explored feasibility and acceptability through qualitative interviews. A survey investigated TAU in specialist mental health services. A Parent Carer Advisory Group of 10 parents of children with intellectual disability worked with the research team on design, recruitment, data analysis and interpretation. Forty-four parents consented to participate in the study and 40 were randomised to the RCT. Of those, 75% remained in the study at 6-month follow-up, and 70% of the VIG-arm participants completed at least 3 cycles of VIG. At 6-month follow-up, between 83.3% and 100% of parent-completed questionnaires were completed, including the Developmental Behaviour Checklist (DBC2 at 86.7% completion rate). The acceptability of VIG was high among parents and practitioners. Parents identified few barriers to participation when VIG was delivered remotely. The cost of VIG was calculated at £153.35 per session and £306.70 per cycle. Video-feedback interventions are not typically part of TAU: just 15% of 66 specialist mental health services reported offering any video-feedback intervention to parents of children with intellectual disability. Findings supported the feasibility and acceptability of a definitive trial of remotely delivered VIG to parents of children with intellectual disability referred for support to specialist mental health services. Adaptations will be needed to enhance recruitment and align some of the study outcomes and processes more closely to parent preferences. ISCTRN 13171328, Registration date 28 December 2022.

Abstract Purpose To determine the feasibility and acceptability of delivering ACHIEVE—a home‑based, parent‑coached OT/SLT intervention—in everyday UK practice and to describe recruitment/retention, data completeness, working alliance, delivery logistics, and exploratory changes in parent‑reported functional, behavioural, communication and stress outcomes. Methods Single‑arm, non‑randomised feasibility study aligned with CONSORT pilot/feasibility guidance. Thirty‑six families of adolescents (11–19 years) with moderate–severe learning disabilities (many also autistic) were recruited via three special schools. Individually tailored OT/SLT sessions focused on parent‑nominated goals in self‑care/daily living, communication and behaviour. Hybrid delivery (home visits + secure video); feasibility and acceptability were primary outcomes; exploratory secondary outcomes included DBC, HSQ, APSI, COPM and GAS. Results Recruitment via schools was practicable (36 families). Attendance was high (159/190 sessions; 83.7%) with 99 home and 59 video sessions. Endpoint data were obtained for 22 families. Parents reported strong alliance (WAI median 89.5, IQR 73.0–91.0). Exploratory signals suggested improvement: DBC T‑score − 3.90 (p = 0.004; n = 19); HSQ mean severity − 0.71 (p = 0.018; n = 19); APSI total − 6.80 (p = 0.046; n = 20). COPM median change + 3.0 (performance) and + 4.0 (satisfaction) (both p < 0.001; n = 17). GAS modelling suggested dose effects: ~7 sessions linked to ~ 80% probability of achieving expected goals, and ~ 10 to exceeding them (n = 31). Conclusion ACHIEVE was feasible and acceptable in UK practice with high engagement and manageable data collection. Dose–response signals and alliance strength support a minimum session count and continued coaching emphasis. Findings inform outcome selection, dose and schedules for a definitive trial; clinical changes remain exploratory.

Abstract The ability to detect sensory regularities and their violations (i.e. deviance) is fundamental for learning and the orientation of attention across the lifespan. This starts from the prenatal period, where the environment is rich in regular patterns and deviations of auditory stimulation which likely provides the basis for the emergence of early learning capacities. Following birth, EEG recordings of brain activity have demonstrated that neonates detect violations of regularity and show a robust mismatch response to deviant auditory stimuli. However, it is unknown how this processing is integrated across wider regions within emergent brain networks. To gain comprehensive insight into both the temporal and spatial properties of the processing underlying sensory deviance detection in the neonatal brain, we acquired simultaneous EEG and fMRI data in sleeping neonates during an auditory oddball paradigm. A mismatch response was identified with EEG when a deviant sound appeared after a sequence of identical sounds but not when a sound was omitted, suggesting encoding of deviances that violated local sequence regularity, but not global sequence structure. Simultaneous fMRI demonstrated engagement of distributed cortical networks during sound sequence processing, encompassing temporal, sensori-motor, and inferior frontal cortices, as well as subcortical regions including the thalamus and hippocampus. Deviance detection was associated with activity in the superior and ventromedial (hippocampus and parahippocampus) parts of the temporal lobe, and the precentral gyrus. Together, these findings suggest that neonatal brain detects deviance in sound sequences through the encoding of local regularities, supported by distinct processing pathways within sensory and limbic systems. These insights help advance our understanding of early auditory learning mechanisms, with implications for understanding how atypical developmental trajectories may emerge in these substrates.

Purpose of reviewThe prevalence of both obesity and hypertension is increasing in childhood, with considerable overlap in disease and causative factors. Evidence from studies over the past decade suggests both obesity and hypertension have summative effects on both cardiac remodelling in childhood and major adverse cardiovascular events in adulthood.Recent findingsWe highlight recent high-quality evidence reporting epidemiology of obesity, hypertension and hypertension-mediated organ damage (HMOD) in those with obesity-related hypertension. We discuss the early life influences on BP and BMI trajectory and the clustering of cardiovascular risk factors (CVRFs) seen in obesity hypertension. We discuss management options highlighting key contributors to compounding risk for obesity-associated hypertension across the first two decades of life, with potential windows for both individual and population-level intervention.SummaryCurrently, a large and expanding cohort of young people with multiple CVRFs is progressing toward adulthood, where they are likely to experience disproportionate cardiovascular morbidity when compared with age-matched healthy peers. These trends underscore the urgent need for co-ordinated healthcare responses to manage affected children and for robust governmental and public-health interventions to mitigate the environmental and societal drivers of this convergent epidemic.

BackgroundAchalasia is rare disease in children and young people (CYP) that causes significant symptoms and often requires invasive interventions. There is currently no consensus on the optimal management strategy. This study investigated the current management and outcomes of CYP with achalasia in the UK.MethodsA retrospective study was conducted of CYP (aged ≤ 16 years) diagnosed with achalasia between 2011 and 2021 in the UK. The study was co-designed with the patient group Achalasia Action. Data were collected from patient records. The primary outcome was treatment success.ResultsIn all, 126 patients were included from 13 UK centres; 64 of the patients (50.8%) were male and the median age at diagnosis was 12 (interquartile range (i.q.r.) 9–14) years. The most frequent presenting features were dysphagia (73.8%), vomiting (53.2%), and weight loss (38.9%). The median time from symptom onset to diagnosis was 11 (i.q.r. 6–24) months. Treatment success was achieved in 55 of 120 patients (45.8%) after first-line intervention. Heller’s cardiomyotomy (HCM) as the first-line intervention had a higher success rate than endoscopic balloon dilatation (EBD; (52 of 72 (72%) versus 3 of 48 (6%), respectively; P < 0.001). However, overall HCM had a higher frequency of complications than EBD (17 of 98 (17%) versus 3 of 57 (5%), respectively; P = 0.045). In the entire cohort, 53% of patients reported symptoms at the 1-year follow-up.ConclusionsVariation exists in the management of CYP with achalasia in the UK. The highest rates of treatment success were associated with HCM. Many CYP remain symptomatic after treatment and require multiple interventions. The present data can be used to inform management decisions in CYP with achalasia.