Sheffield Children's Hospital

Autistic children and young people may be more likely than their peers to access healthcare services, but little is known about their experiences of healthcare as the literature tends to focus on the experiences of autistic adults and the views of healthcare professionals. The literature review detailed in this article aimed to gather evidence on the experiences of autistic children or young people and their parents in accessing healthcare services. Following a database search and screening, seven articles were selected for review. None of the studies captured children's experiences but the findings offer some insight into parents' views. Four main themes emerged from the data analysis: importance of the healthcare professional; relationship between families and staff; impact on parents; and healthcare services and environment. These themes encompass the need for: effective relationships between staff and parents to ensure the provision of family-centred care; further education among professionals in caring for autistic children and young people to enhance their experiences of healthcare; and greater flexibility in healthcare services to accommodate the needs of autistic children and young people and their families.

Scoliosis is a three-dimensional spinal deformity exceeding 10 degrees. Left untreated, it can lead to comorbidities, as well as surface deformity. Brace treatment is common in smaller curves (20-40 degrees), with strong evidence in adolescent idiopathic scoliosis (AIS), but overall effectiveness and impact on quality of life is controversial. This scoping review sought to map existing reviews on all aspects of bracing in scoliosis of any aetiology, to identify future research priorities. Searches were conducted in MEDLINE and EMBASE, excluding abstracts, narrative reviews and guidelines. Included articles reported on scoliosis patients of any age and aetiology and examined the use of spinal bracing. Four independent reviewers screened articles for inclusion and completed data extraction. Data were summarised narratively in themes, looking at effectiveness of bracing in AIS, patient factors influencing outcomes of AIS brace treatment, interventions to improve bracing success in AIS, patient and family experiences with bracing in AIS and bracing in adult and neuromuscular scoliosis. AMSTAR2 was used to assess confidence in the results in the reviews. Searches yielded 59 eligible studies which were included. Whilst bracing is recommended for curves 20°-40° in AIS, it may be successful in those over 40° with good compliance. Bracing is effective in lowering rates of curve progression in AIS and therefore reducing surgery rates. There is no strong evidence that one brace type produces superior outcomes over another, compared to other treatments. Brace adherence is associated with significantly lower rates of curve progression; this is affected by appearance, comfort and psychology. Evidence shows adherence improves with sensor monitoring and psychosocial interventions. Some evidence suggests in-brace correction can be predicted by curve flexibility. More remaining growth potential and associated factors (younger age, lower Risser stage, pre-menarchial, open triradiate cartilage) can increase the risk of curve progression during bracing. Scoliosis-specific exercises may be beneficial alongside brace treatment. Long-term QoL does not appear to be affected by brace treatment. Some low-quality evidence suggests reduced QoL during bracing compared to observation. Function may be impacted by brace treatment, but pain is not increased. In degenerative spinal deformity, there may be some shorter term benefit for pain and function. Little evidence on bracing in neuromuscular scoliosis exists. There is a large research base of evidence to support bracing for AIS; however, this base is limited due to the substantial amount of low-quality research it includes. The aim of this scoping review was to identify gaps in the literature to guide future research. This comprehensive review captured the breadth of existing review evidence on all aspects of bracing in scoliosis. Evidence supports bracing as an effective treatment in scoliosis, controlling curve progression, and often increasing patient satisfaction. Compliance is key, and measures such as compliance sensors can be effective. This scoping review has summarised the existing literature; however, the evidence base is limited. Further research could explore objective measures for compliance monitoring, optimal treatment protocols around brace cessation and effects of bracing on patient quality of life.

Prediction of suboptimal growth allows early intervention that can improve outcomes for developing fetus' as well as infants and children. We investigate the risk of bias in statistical or machine learning models to predict the height or weight of a fetus, infant or child under 20 years of age to inform the current standard of research and provide insight into why equations developed over 30 years ago are still recommended for use by national professional bodies. We systematically searched MEDLINE and EMBASE for peer reviewed original research studies published in 2022. We included studies if they developed or validated a multivariable model to predict height or weight of an individual using two or more variables, excluding studies assessing imaging or using genetics or metabolomics information. Risk of bias was assessed for all prediction models and analyses using the Prediction model Risk Of Bias ASsessment Tool (PROBAST). Sixty-four studies were included, in which we assessed the development of 180 models and validation of 61 models. Sample size was only considered in 10% of developed models and 13% of validated models. Despite height and weight being continuous variables, 77% of models developed predicted a dichotomised outcome variable. The review was registered on PROSPERO (ID: CRD42023421146), the International prospective register of systematic reviews on 26/4/2023.

ABSTRACTAdvancing age is associated with an increasing prevalence of dry skin conditions such as xerosis, asteatotic eczema and atopic dermatitis (AD). Although broad changes in stratum corneum (SC) lipids and AD history have been implicated, age‐related alterations in the SC lipidome within at‐risk populations remain unclear. We characterised SC structure and lipidomic profiles in 58 adults with dry, eczema‐prone skin across a wide age range. Assessments included visual dryness, biophysical properties (TEWL, capacitance, skin‐surface‐pH), irritant sensitivity, ATR‐FTIR spectroscopy and lipidomic analysis through quantification of extracted SC lipids via mass spectrometry. Age correlated significantly with increased dryness (r = 0.46, p ≤ 0.0001) and reduced hydration (r = −0.42, p ≤ 0.0001). Spectroscopy revealed declines in total lipids (p < 0.0026), water (p < 0.0009), lipid esters (p < 0.0001) and carboxylates (p < 0.0004) with age. Among 1385 quantified lipid species, triacylglycerol (TAG) was most abundant; TAG 46:1;0 associated with dryness (r = −0.42, p ≤ 0.0001). Ceramides CER[AH] (p < 0.0001), CER[AP] (p < 0.0001), CER[AdS] (p = 0.042), CER[NP] (p = 0.031) and CER[NdS] (p < 0.0001) all significantly increased with age relative to protein. Notably, CER[NdS] species shifted towards shorter (16ºC) acyl chains (+2.23%, p = 0.01) and away from longer (24ºC) chains (−3.9%, p < 0.0001). The CER[NdS]/CER[NH] ratio correlated with age (r = 0.59, p < 0.0001), dryness (r = 0.36, p = 0.0006), and barrier integrity (r = 0.59, p < 0.0001) (all p ≤ 0.0006). Within an at‐risk population, SC lipid levels change as the skin ages. These changes, especially an increase in short acyl chain NdS ceramides, were associated with the decline in skin barrier function and may help explain the increased prevalence of xerosis and the (re)emergence of eczema in later life.

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Abstract Total hip arthroplasty is one of the most successful operations of all time however the British NJR demonstrates a revision burden of 1.8% at 13.5 years. This creates a burden of 1500 revisions per annum across the UK. Various service improvement projects have demonstrated a need to consolidate specialist surgeries in specialist centres mandating the formation of revision networks. Exactly what information is required from a referring centre to make an on the day decision at a regional MDT has not been assessed. We aim to build a consensus on a minimum required data set for referral into a regional arthroplasty network in order to allow said MDT to categorise the revision indication, complexity and prescribe a bespoke surgical plan for the revision. A literature search will be performed across medical search engines to identify abstracts related to surgical decision making in revision arthroplasty. All abstracts will be assessed by two assessors and included or rejected for full paper retrieval. Every input for decision making within the included papers will be recorded. Once the input set is completed a group of experts in hip surgery will be invited to participate in a two round Delphi process to stratify the importance of each input. Once this process is completed a consensus setting meeting of all stakeholders will be held to formalise a consensus. It is anticipated that the consensus statement from this process will be used as a framework for regional if not nation-wide revision network referral forms.

A bstract Background: Urinary tract infections (UTIs) pose a serious risk to children and adolescents, potentially leading to chronic kidney damage if left untreated. Objectives: We aimed to determine the prevalence and risk factors of UTIs among adolescents in rural south-eastern Nigeria and the contribution of Staphylococcus saprophyticus as an etiological agent. Materials and Methods: A cross-sectional study was conducted from March to May 2023 among 210 secondary school students aged 10–18 in rural communities of Anambra State, Nigeria. Participants’ urine samples were analyzed using dipstick urinalysis and microscopy, culture, and sensitivity analyses. Data were analyzed with the STATA 16.0 at 95% confidence interval. Results: The prevalence of UTI was 6.19% (n = 13), and significant risk factors included being a day student ( P &lt; 0.001) and attending co-educational schools ( P &lt; 0.001). E. coli contributed to 53.9% (n = 7) of UTIs cases, followed by Klebsiella spp., 30.8% (n = 4), the least contributed by Enterobacter spp., 15.4% (n = 2). There was no recorded case of Staphylococcus saprophyticus . Conclusion: The low prevalence of UTI and the absence of S. saprophyticus as a causative agent suggest that routine screening may not be necessary for healthy in-school adolescents in this population. These findings highlight the importance of application of targeted prevention strategies for day students and adolescents in co-educational schools.

<h3></h3> Obscure gastrointestinal (GI) bleeding may cause refractory anaemia and require repeated endoscopic evaluations. In addition, this may require iron supplementation or blood transfusion if the fall is precipitous. GI bleeding in children with previous abdominal surgery can be associated with anastomotic ulcers and may require endoscopic intervention. We describe the case of a 10 -year-old boy, who had DBD (donation after brain death) liver transplant for cryptogenic liver disease at 2 years of age. He was subsequently diagnosed with Niemann-Pick type C at 6 years of age. He presented with multiple episodes of melena, over the course of a 7-year period, requiring numerous endoscopies to delineate the cause. Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder characterized by multiple venous malformations primarily affecting the skin and gastrointestinal (GI) tract. The lesions can affect the distal small bowel and present with either obvious melena or occult blood loss, resulting in refractory anaemia.¹ Pharmacological therapy includes somatostatin analogues like Octreotide in significant GI bleeding. Sirolimus (angiogenesis inhibitor) has been used as a therapeutic option with variable success.² The patient had multiple endoscopic assessments including upper GI endoscopy, ileocolonoscopy and wireless capsule endoscopy (WCE). The first endoscopic assessment was normal. A relook endoscopy identified an angioectatic lesion in the second part of duodenum to which argon plasma coagulation (APC) was applied. Double balloon enteroscopy (DBE) was planned during a precipitous episode, with a significant drop in haemoglobin of 3.5 g/dl. Multiple angioectatic lesions were identified close to the Roux-en-Y anastomosis; however, haemostasis could not be achieved using clips or thermal coagulation. The patient underwent laparotomy with resection and re-fashion of Roux-en-Y anastomosis. An on the table, lap-assisted enteroscopy did not identify any other lesions. The histology of the bleeding area of the resected segment showed multiple dilated vascular channels in the submucosa, appearing to be venous in nature. There has been no further bleeding since the operative intervention in a 2 year follow up. There are no guidelines for the management of BRBNS with GI involvement. The treatment is determined by the severity of the disease and the extent of intestinal involvement. Therapeutic options include interventional endoscopy, surgery, and angiogenesis inhibitors. Successful treatment is reported in 92% of cases. Surgical intervention is curative once the disease site is identified. Disease recurrence is known in 25% of treated patients.³ Sirolimus has proven to be effective as a second line of treatment, but there are possible limiting side effects (bone marrow suppression with increased risk of infections, toxicity, vascular complications, hyperlipidaemia, high blood pressure, abnormal renal function, impaired wound healing, mouth ulcers, rashes, arthralgia, diabetes, malignancy). Our case study suggests that the diagnosis of BRBNS lesions can be challenging, especially in children with previous abdominal surgery and without any cutaneous stigmata. DBE during an acute episode can be useful to localise the lesion and treat it using haemostatic clips, injections, diathermy probes. Surgical help maybe needed in more extensive lesions or when endoscopic intervention is difficult or not possible. <h3>References</h3> Isoldi S, Belsha D, Yeop I, <i>et al</i>. Diagnosis and management of children with blue rubber bleb nevus syndrome: a multi-center case series. <i>Dig Liver Dis</i>. 2019;<b>51</b>:1537–46. Rimondi A, Sorge A, Murino A, <i>et al</i>. Treatment options for gastrointestinal bleeding blue rubber bleb nevus syndrome: systematic review. <i>Dig Endoscopy</i>. 2024;<b>36</b>:162–171. O’Kelly F, Lim KT, Ravi N, <i>et al</i>. The value of double balloon enteroscopy in diagnosing blue rubber bleb naevus syndrome: a case report. <i>Cases J</i>. 2010;<b>18</b>(3):29. Duran Y, Celik SK, Aksoy B, <i>et al</i>. Double balloon enteroscopy experience in children from Turkey. <i>J Pediatr Gastroenterol Nutr</i>. 2018;<b>66</b>:276. Aravindan U, Ganesan R, Thamarai KM. Surgery for blue rubber bleb nevus syndrome: case report. <i>The Indian Journal of Surgery</i> 2018;<b>80</b>(3):272–274. Duong JT, Geddis A, Carlberg K, <i>et al</i>. Sirolimus for management of GI bleeding in blue rubber bleb nevus syndrome: a case series. <i>Pediatr Blood Cancer</i>. 2022;<b>69</b>:e29970.

<h3></h3> Coeliac crisis is a medical emergency, rarely encountered in clinical practice. It may be a consequence of a delayed diagnosis of coeliac disease (CD). Diagnostic criteria for coeliac crisis include severe dehydration including orthostatic changes, renal dysfunction, neurological dysfunction, metabolic acidosis, abnormal electrolyte levels, hypoproteinaemia with Albumin below 3 g/dl and weight loss more than 4.5 kg. A diagnosis is made if more than 2 criteria are present.¹ We describe the case of a 4-year-old girl who presented with coeliac crisis as the first manifestation of undiagnosed coeliac disease, to raise awareness of the diagnostic criteria for coeliac crisis and consideration of this in unwell patients. Our patient presented with chronic diarrhoea, fatigue, and exhaustion. On admission she was not clinically dehydrated, had peripheral oedema, mildly distended abdomen with no signs of ascites. She had 20% weight loss, and her BMI was 13.23 (on 2d centile). A no-biopsy diagnosis of coeliac disease was made as she had IgA anti-tissue transglutaminase antibodies more than ten times the upper limit of normal and positive endomysium antibodies.⁵ Bloods showed compensated metabolic acidosis, with bicarbonate of 13, normal glucose at 4.1, low magnesium at 0.39 mmol/L, low albumin at 13 g/L. She required magnesium and albumin infusions for deficit correction. In addition, she had deranged PT/INR which normalised after two doses of intravenous Vitamin K. She also had transaminitis, and an extensive hepatitis screen. Autoimmune hepatitis was ruled out. An abdominal ultrasound showed fatty liver and normal elastography. Metabolic screen was normal. The levels of Vitamin D, folic acid, copper and zinc were low, and she had supplementation. Our patient met 4 out of the 7 criteria for coeliac crisis. She was commenced on gluten free diet, initially via nasogastric tube, then orally from day 4. She was monitored for refeeding syndrome and discharged following nutritional rehabilitation after 11 days. At her 2 months clinic follow up her bloods were normal; she has gained weight. Four months after her presentation her BMI improved to 17.7 (on 91st centile). Coeliac crisis was first described by Andersen and Di Sant’ Agnese in 1953 when they reported 35 patients with coeliac crisis, among which 3 were complicated by fatality.^{3 4} It is rarely encountered, probably due to better screening and early diagnosis; however, this can occasionally be the initial presentation of CD. The only effective treatment is a life-long gluten free diet. In coeliac crisis, the emergency treatment of electrolyte abnormalities is followed by gluten free diet and monitoring for refeeding syndrome. The role of corticosteroids in coeliac crisis is controversial but there are case reports of coeliac crisis with a good response to steroids, as they can reduce intestinal inflammation and restore the brush border enzymes.² Our patient did not require steroids and responded well to gluten free diet. This case highlights the importance of considering coeliac crisis in an acutely unwell patient with chronic diarrhoea, weight loss and metabolic derangements. <h3>References</h3> Mauro A, Casini F. Celiac crisis as the life-threatening onset of celiac disease in children: a case report. <i>Frontiers in Pediatrcs</i>. DOI 10.3389/fped.2023.1163765. Gupta S, Kapoor K. Steroids in celiac crisis: doubtful role. <i>Indian Pediatrics</i> 2014;<b>51</b>(9):756–757. Di Sant’ Agnese PA. Idiopathic coeliac disease. II. Course and prognosis. <i>Pediatrics</i> 1953 Mar;<b>11</b>(3):224–37. Andersen DH, Di Sant’ Agnese PA. Idiopathic coeliac disease. I. Mode of onset and diagnosis. <i>Pediatrics</i> 1953 Mar;<b>11</b>(3):207–23. Husby S, Koletzko S, Wessels M, <i>et al</i>. European society paediatric gastroenterology, hepatology and nutrition guidelines for diagnosing coeliac disease 2020. <i>JPGN</i> 2020;<b>70</b>:141–157.