Protecting the integrity of children and young people's nursing as a distinct field of practice.

At certain points in nursing history, it has been necessary to make a case for children and young people to be cared for by specialist nurses educated to meet their specific needs. However, in 2018 the updated Nursing and Midwifery Council (NMC) standards of proficiency for registered nurses adopted a generic rather than field-specific approach. This article reiterates that children, young people and their families have unique needs that are best met by nurses who are trained specifically to care for them. The case is made from a historical and legal perspective, concluding with a proposal that in the best interests of children, young people and their families, the NMC should embed specific competencies for children's nurses into its standards of proficiency to future-proof this field of practice.

Just-in-Time: A Caregiver-Mediated Intervention for Toddlers With Autism.

PURPOSE: We investigated effects of an adaptive telehealth coaching model on caregiver implementation of enhanced milieu teaching (EMT) with newly diagnosed toddlers with autism. METHOD: Three caregiver-child dyads participated in a multiple-baseline-across-behaviors, single-case design. Caregivers were taught EMT via telehealth using the teach-model-coach-review approach. EMT strategies were taught sequentially in four components corresponding to design tiers. Caregivers reported their needs for support and adaptation via weekly surveys. Primary outcomes were measures of caregiver's implementation, including (a) a fidelity checklist for wholistic use of EMT and (b) a percentage of correct use of a subset of key EMT strategies (e.g., matched turns, target talk, expansions, play actions, milieu episodes). Generalization and maintenance of caregiver strategy use in uncoached home activities were measured. The number of different words used by children was measured as a secondary, descriptive outcome. Social validity data were collected through ratings and interviews at the end of the study. RESULTS: There was a functional relation between the intervention and caregiver's implementation of EMT for all dyads. Caregiver's use of EMT strategies often generalized and maintained post-intervention. Child response to intervention was variable. Social validity data indicated that the model was beneficial to caregivers and children. CONCLUSIONS: An adaptive telehealth coaching model is effective for teaching caregivers of toddlers with autism to implement EMT and potentially helps to bridge the gap between diagnosis and comprehensive intervention. Further exploration of the relation between caregiver fidelity and dosage of active ingredients and child spoken language outcomes is needed. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25156223.

Comparing Interventions With Speech-Generating Devices and Other Augmentative and Alternative Communication Modes: A Meta-Analysis.

PURPOSE: Optimal augmentative and alternative communication (AAC) systems for children with complex communication needs depend in part on child characteristics, child preferences, and features of the systems themselves. The purpose of this meta-analysis was to describe and synthesize single case design studies comparing young children's acquisition of communication skills with speech-generating devices (SGDs) and other AAC modes. METHOD: A systematic search of published and gray literature was conducted. Data related to study details, rigor, participant characteristics, design information, and outcomes were coded for each study. A random effects multilevel meta-analysis was performed using log response ratios as effect sizes. RESULTS: Nineteen single case experimental design studies with 66 participants (M age = 4.9 years) met inclusion criteria. All but one study featured requesting as the primary dependent variable. Visual analysis and meta-analysis indicated no differences between use of SGDs and picture exchange for children learning to request. Children demonstrated preferences for and learned to request more successfully with SGDs than with manual sign. Children who preferred picture exchange also learned to request more easily with picture exchange than with SGDs. CONCLUSIONS: Young children with disabilities may be able to request equally well with SGDs and picture exchange systems in structured contexts. More research is needed comparing AAC modes with diverse participants, communication functions, linguistic complexity, and learning contexts. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.22111181.

An investigation into the relationship between nutritional status, dietary intake, symptoms and health-related quality of life in children and young people with juvenile idiopathic arthritis: a systematic review and meta-analysis.

BACKGROUND: The association between diet, symptoms and health related quality of life in children and young people with Juvenile idiopathic arthritis (JIA) is not clearly understood. The objectives of this systematic review and meta-analysis were to explore the evidence for a relationship between nutritional status, dietary intake, arthritis symptoms, disease activity and health-related quality of life in children and young people with JIA considering both observational and interventional studies separately. METHOD: The databases PubMed, CINAHL, PsycINFO, Web of Science and Cochrane were searched in October 2019, updated in September 2020 and October 2021. Searches were restricted to English language, human and age (2-18 years old). Studies were included if they measured the effect of dietary supplements, vitamins or minerals, or diet in general, on quality of life and/ or arthritis symptom management. Two researchers independently screened titles and abstracts. Full texts were sourced for relevant articles. PRISMA guidelines were used for extracting data. For variables (vitamin D and disease activity), a random-effects meta-analysis model was performed. Two authors using a standardized data extraction form, extracted data independently. RESULTS: 11,793 papers were identified through database searching, 26 studies met our inclusion criteria with 1621 participants. Overall studies quality were fair to good. Results from controlled trial and case control studies with total 146 JIA patients, found that Ɯ-3 PUFA improved the mean active joint count (p < 0.001), Juvenile Arthritis Disease Activity Score (JADAS-27) (p < 0.001) and immune system (≤ 0.05). Furthermore, n-3 and n-6 PUFAs have a negative correlation with CRP (C-reactive protein) and ESR (erythrocyte sedimentation rate) (p < 0.05). Improvement in JIA symptoms were observed in one case, one pilot and one exploratory study with overall 9 JIA patients after receiving Exclusive Enteral Nutrition (EEN) which contains protein and what is required for a complete nutrition, A clinical trial study found Kre-Celazine nutrition (composed of a proprietary alkali buffered, creatine monohydrate and fatty acids mixture) in 16 JIA patients improved symptoms of JIA. No association was found between vitamin D and disease activity from three studies. Height and weight values in relation to healthy controls varied across studies (p = 0.029). CONCLUSIONS: We were only able to include small studies, of lower design hierarchy, mainly pilot studies. We found some evidence of lower height and weight across studies in JIA, but were unable to confirm an association between diet, symptoms and health-related quality of life in children and young people with JIA. Well-designed, carefully measured and controlled interventional studies of dietary patterns in combination with important contributing factors such as medication and lifestyle behaviours, including physical activity, are required to determine the impact of diet in improving symptoms and growth patterns in children and young people with JIA, with an aim to improve the quality of their life. TRIAL REGISTRATION: PROSPERO [CRD42019145587].

Partially Automated Training for Implementing, Summarizing, and Interpreting Trial-Based Functional Analyses.

Trial-based functional analysis (TBFA) is an accurate and ecologically valid assessment of challenging behavior. Further, there is evidence to suggest that individuals with minimal exposure to behavior analytic assessment methodology (e.g., parents, teachers) can quickly be trained to conduct TBFAs in naturalistic settings (e.g., schools, homes). Notwithstanding, the response effort associated with training development can be prohibitive and may preclude incorporation of TBFA into practice. To address this, we developed a partially automated training package, intended to increase the methodology's accessibility. Using a multiple-probe across skills design, we assessed the degree to which the package increased caregiver accuracy in (a) implementing TBFAs, (b) interpreting TBFA outcomes, and (c) managing TBFA data. Six caregivers completed this study and all demonstrated proficiency following training, first during structured roleplays and again during assessment of their child's actual challenging behavior.

Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE.

OBJECTIVES: Juvenile-onset systemic lupus erythematosus (jSLE) affects 15-20% of lupus patients. Clinical heterogeneity between racial groups, age groups and individual patients suggests variable pathophysiology. This study aimed to identify highly penetrant damaging mutations in genes associated with SLE/SLE-like disease in a large national cohort (UK JSLE Cohort Study) and compare demographic, clinical and laboratory features in patient sub-cohorts with 'genetic' SLE vs remaining SLE patients. METHODS: Based on a sequencing panel designed in 2018, target enrichment and next-generation sequencing were performed in 348 patients to identify damaging gene variants. Findings were integrated with demographic, clinical and treatment related datasets. RESULTS: Damaging gene variants were identified in ∼3.5% of jSLE patients. When compared with the remaining cohort, 'genetic' SLE affected younger children and more Black African/Caribbean patients. 'Genetic' SLE patients exhibited less organ involvement and damage, and neuropsychiatric involvement developed over time. Less aggressive first line treatment was chosen in 'genetic' SLE patients, but more second and third line agents were used. 'Genetic' SLE associated with anti-dsDNA antibody positivity at diagnosis and reduced ANA, anti-LA and anti-Sm antibody positivity at last visit. CONCLUSION: Approximately 3.5% of jSLE patients present damaging gene variants associated with younger age at onset, and distinct clinical features. As less commonly observed after treatment induction, in 'genetic' SLE, autoantibody positivity may be the result of tissue damage and explain reduced immune complex-mediated renal and haematological involvement. Routine sequencing could allow for patient stratification, risk assessment and target-directed treatment, thereby increasing efficacy and reducing toxicity.

Real world treatment of juvenile-onset systemic lupus erythematosus: Data from the UK JSLE cohort study.

BACKGROUND: In the absence of clinical trials evidence, Juvenile-onset Systemic Lupus Erythematosus (JSLE) treatment plans vary. AIM: To explore 'real world' treatment utilising longitudinal UK JSLE Cohort Study data. METHODS: Data collected between 07/2009-05/2020 was used to explore the choice/sequence of immunomodulating drugs from diagnosis. Multivariate logistic regression determined how organ-domain involvement (pBILAG-2004) impacted treatment choice. RESULT: 349 patients met inclusion criteria, median follow-up 4-years (IQR:2,6). Mycophenolate mofetil (MMF) was most commonly used for the majority of organ-domains, and significantly associated with renal involvement (OR:1.99, 95% CI:1.65-2.41, pc < 0.01). Analyses assessing the sequence of immunomodulators focused on 197/349 patients (meeting relevant inclusion/exclusion criteria). 10/197 (5%) solely recieved hydroxychloroquine/prednisolone, 62/197 (31%) received a single-immunomodulator, 69/197 (36%) received two, and 36/197 patients (28%) received ≥three immunomodulators. The most common first and second line immunomodulator was MMF. Rituximab was the most common third-line immunomodulator. CONCLUSIONS: Most UK JSLE patients required ≥two immunomodulators, with MMF used most commonly.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia and distinctive facial and physical characteristics. To further explore the genetic heterogeneity, paralog contribution, and phenotypic variability of RS, we investigated a cohort of 22 individuals clinically diagnosed with RS from 18 unrelated families. Pathogenic or likely pathogenic variants in genes associated with RS or RS phenocopies were identified in all 22 individuals, including the first variant to be reported in DVL2. We retrospectively collected medical records of 16 individuals from this cohort and extracted clinical descriptions from 52 previously published cases. We performed Human Phenotype Ontology (HPO) based quantitative phenotypic analyses to dissect allele-specific phenotypic differences. Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles. Probands with biallelic NXN variants clustered together with the majority of probands carrying DVL1, DVL2, and DVL3 variants, demonstrating no phenotypic distinction between the NXN-autosomal recessive and dominant forms of RS. While phenotypically similar diseases on the RS differential matched through HPO analysis, clustering using phenotype similarity score placed RS-associated phenotypes in a unique cluster containing WNT5A, FZD2, and ROR2 apart from non-RS-associated paralogs. Through human phenotype analyses of this RS cohort and OMIM clinical synopses of Mendelian disease, this study begins to tease apart specific biologic roles for non-canonical WNT-pathway proteins.

Extending functional communication training to multiple language contexts in bilingual learners with challenging behavior.

Little research has highlighted how evidence-based practices (e.g., functional communication training [FCT]) might be adapted for bilingual learners with disabilities. In the current study, we served 2 children with autism spectrum disorder (ASD) and challenging behavior whose parents primarily spoke Spanish at home, and whose teachers primarily spoke English at school. Following traditional FCT (i.e., 1 language only), we systematically replicated the findings of Neely, Graber et al. (2020) by demonstrating that mands in the untrained language (i.e., English) did not emerge when trained mands (i.e., Spanish) contacted extinction in alternative-language contexts. Simultaneously, challenging behavior consistently resurged. After children received explicit training with both languages and were taught to change the language of request when initial attempts were unsuccessful (i.e., "repair the message" training), these same children successfully obtained high rates of reinforcement in both language contexts, and challenging behavior rarely occurred.

Attainment of low disease activity and remission targets reduces the risk of severe flare and new damage in childhood lupus.

OBJECTIVES: To assess the achievability and effect of attaining low disease activity (LDA) or remission in childhood-onset SLE (cSLE). METHODS: Attainment of three adult-SLE derived definitions of LDA (LLDAS, LA, Toronto-LDA), and four definitions of remission (clinical-SLEDAI-defined remission on/off treatment, pBILAG-defined remission on/off treatment) was assessed in UK JSLE Cohort Study patients longitudinally. Prentice-Williams-Petersen gap recurrent event models assessed the impact of LDA/remission attainment on severe flare/new damage. RESULTS: LLDAS, LA and Toronto-LDA targets were reached in 67%, 73% and 32% of patients, after a median of 18, 15 or 17 months, respectively. Cumulatively, LLDAS, LA and Toronto-LDA was attained for a median of 23%, 31% and 19% of total follow-up-time, respectively. Remission on-treatment was more common (61% cSLEDAI-defined, 42% pBILAG-defined) than remission off-treatment (31% cSLEDAI-defined, 21% pBILAG-defined). Attainment of all target states, and disease duration (>1 year), significantly reduced the hazard of severe flare (P < 0.001). As cumulative time in each target increased, hazard of severe flare progressively reduced. LLDAS attainment reduced the hazard of severe flare more than LA or Toronto-LDA (P < 0.001). Attainment of LLDAS and all remission definitions led to a statistically comparable reduction in the hazards of severe flare (P > 0.05). Attainment of all targets reduced the hazards of new damage (P < 0.05). CONCLUSIONS: This is the first study demonstrating that adult-SLE-derived definitions of LDA/remission are achievable in cSLE, significantly reducing risk of severe flare/new damage. Of the LDA definitions, LLDAS performed best, leading to a statistically comparable reduction in the hazards of severe flare to attainment of clinical remission.

Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus: Data from the UK Juvenile-onset systemic lupus erythematosus cohort study.

INTRODUCTION: Juvenile-onset systemic lupus erythematosus (JSLE) is a rare autoimmune/inflammatory disease with significant morbidity and mortality. Neuropsychiatric (NP) involvement is a severe complication, encompassing a heterogeneous range of neurological and psychiatric manifestations. METHODS: Demographic, clinical, and laboratory features of NP-SLE were assessed in participants of the UK JSLE Cohort Study, and compared to patients in the same cohort without NP manifestations. RESULTS: A total of 428 JSLE patients were included in this study, 25% of which exhibited NP features, half of them at first visit. Most common neurological symptoms among NP-JSLE patients included headaches (78.5%), mood disorders (48.6%), cognitive impairment (42%), anxiety (23.3%), seizures (19.6%), movement disorders (17.7%), and cerebrovascular disease (14.9%). Peripheral nervous system involvement was recorded in 7% of NP-SLE patients. NP-JSLE patients more frequently exhibited thrombocytopenia (<100 × 109/L) (p = 0.04), higher C-reactive protein levels (p = 0.01), higher global pBILAG score at first visit (p < 0.001), and higher SLICC damage index score at first (p = 0.02) and last (p < 0.001) visit when compared to JSLE patients without NP involvement. CONCLUSIONS: A significant proportion of JSLE patients experience NP involvement (25%). Juvenile-onset NP-SLE most commonly affects the CNS and is associated with increased overall disease activity and damage.

Formative applications of ongoing visual inspection for trial-based functional analysis: A proof of concept.

Trial-based functional analysis (TBFA) possesses many strategic advantages which make it an ideal candidate for adoption in applied settings. Notwithstanding, some aspects of the analysis remain underdeveloped, including structured guidelines for interacting with obtained data reliably in formative and summative ways. The purpose of this study was to adapt existing ongoing visual-inspection (OVI) criteria to match the idiosyncrasies of TBFA and then to assess their practical utility in applied settings. Thus, we first drafted OVI criteria appropriate for trial-based FA (i.e., TB-OVI). Then, we trained 5 caregivers to conduct TBFAs of their children's challenging behavior and to react to their data as they obtained it, using the TB-OVI criteria as their guide. Finally, we validated interpretations of TBFA outcomes based on TB-OVI criteria through effective intervention. Across 5 participants and 7 opportunities, function-based interventions successfully eliminated challenging behavior.

Continuous intravenous anakinra for treating severe secondary haemophagocytic lymphohistiocytosis/macrophage activation syndrome in critically ill children.

The cytokine storm of secondary haemophagocytic lymphohistiocytosis (sHLH)/macrophage activation syndrome (MAS) can cause life-threatening multiorgan failure. Interleukin-1 (IL-1) receptor blockade with anakinra can be effective in the management of sHLH/MAS. Subcutaneous (SC) dosing regimens are widely described; however, intravenous (IV) dosing is advantageous where time-critical intervention is vital and where SC oedema and/or hypoperfusion limits absorption. We review three critically ill children (aged 9, 11 and 17) with sHLH and rapidly progressive multiorgan dysfunction, successfully treated with continuous IV anakinra infusion. This case series significantly enhances the incipient knowledge regarding the safety and efficacy of IV anakinra for life-threatening sHLH.

Limited sensitivity and specificity of the ACR/EULAR-2019 classification criteria for SLE in JSLE?-observations from the UK JSLE Cohort Study.

OBJECTIVES: This study aimed to test the performance of the new ACR and EULAR criteria, that include ANA positivity as entry criterion, in JSLE. METHODS: Performance of the ACR/EULAR-2019 criteria were compared with Systemic Lupus International Collaborating Clinics (SLICC-2012), using data from children and young people (CYP) in the UK JSLE Cohort Study (n = 482), with the ACR-1997 criteria used as reference standard. An unselected cohort of CYP positive for ANA (n = 129) was used to calculate positive/negative predictive values of the criteria. RESULTS: At both first and last visits, the number of patients fulfilling the different classification criteria varied significantly (P < 0.001). The sensitivity of the SLICC-2012 criteria was higher when compared with that of the ACR/EULAR-2019 criteria at first and last visits (98% vs 94% for first visit, and 98% vs 96% for last visit; P < 0.001), when all available CYP were considered. The ACR/EULAR-2019 criteria were more specific when compared with the SLICC-2012 criteria (77% vs 67% for first visit, and 81% vs 71% for last visit; P < 0.001). Significant differences between the classification criteria were mainly caused by the variation in ANA positivity across ages. In the unselected cohort of ANA-positive CYP, the ACR/EULAR-2019 criteria produced the highest false-positive classification (6/129, 5%). CONCLUSION: In CYP, the ACR/EULAR-2019 criteria are not superior to those of the SLICC-2012 or ACR-1997 criteria. If classification criteria are designed to include CYP and adult populations, paediatric rheumatologists should be included in the consensus and evaluation process, as seemingly minor changes can significantly affect outcomes.

Clinical and laboratory phenotypes in juvenile-onset Systemic Lupus Erythematosus across ethnicities in the UK.

Systemic lupus erythematosus (SLE) is a systemic autoimmune/inflammatory disease. Patients diagnosed with juvenile-onset SLE (jSLE), when compared to individuals with adult-onset SLE, develop more severe organ involvement, increased disease activity and greater tissue and organ damage. In adult-onset SLE, clinical characteristics, pathomechanisms, disease progression and outcomes do not only vary between individuals and age groups, but also ethnicities. However, in children and young people, the influence of ethnicity on disease onset, phenotype and outcome has not been investigated in detail. In this study, we investigated clinical and laboratory characteristics in pediatric SLE patients from different ethnic backgrounds (White Caucasian, Asian, Black African/Caribbean) accessing data from a national cohort of jSLE patients (the UK JSLE Cohort Study). Among jSLE patients in the UK, ethnicity affects both the disease's clinical course and outcomes. At diagnosis, Black African/Caribbean jSLE patients show more "classical" laboratory and clinical features when compared to White Caucasian or Asian patients. Black African/Caribbean jSLE patients exhibit more renal involvement and more frequently receive cyclophosphamide and rituximab. Studies targeting ethnicity-specific contributors to disease expression and phenotypes are necessary to improve our pathophysiological understanding, diagnosis and treatment of jSLE.

A Handoff Protocol for Pediatric Trauma Patients at a Rural Level One Trauma Center Reduces Length of Stay.

BACKGROUND: The management of the pediatric trauma patient is variable among trauma centers. In some institutions, the trauma surgeon maintains control of the patient throughout the hospital stay, while others transfer to a pediatric specialist after the initial evaluation and resuscitation period. We hypothesized that handoff to the pediatric surgeon would decrease the length of stay by more efficient coordination with pediatric subspecialists and ancillary staff. METHODS: A retrospective review from October 2014 to October 2018 was conducted at our rural level 1 trauma center analyzing the length of stay across all demographics and trauma triage levels before and after institution of a handoff protocol from adult specialized trauma surgeons to pediatric surgeons within a 24-hour window. Further analysis included emergency department (ED) disposition to include the effect of handoff on the length of stay in the setting of a higher post-ED acuity, that is, disposition of monitored beds. RESULTS: 1267 patient charts were analyzed and the mean length of stay was reduced by .38 days (t = 5.92, P < .0005) across all demographics, trauma triage levels, post-ED dispositions, and mechanisms of injury after institution of our handoff protocol. CONCLUSION: Handoff from adult specialized trauma surgeons to pediatric surgeons within a 24-hour window at a rural level 1 trauma center significantly improved the length of stay by .38 (t = 5.92, P < .0005) among pediatric trauma patients in all demographics, trauma triage activations levels, mechanisms of injury, and post-ED dispositions acuity levels.

Identifying rheumatic disease patients at high risk and requiring shielding during the COVID-19 pandemic.

Rheumatology teams care for patients with diverse, systemic autoimmune diseases who are often immunosuppressed and at high risk of infections. The current COVID-19 pandemic has presented particular challenges in caring for and managing this patient group. The office of the chief medical officer (CMO) for England contacted the rheumatology community to provide expert advice on the identification of extremely vulnerable patients at very high risk during the COVID-19 pandemic who should be 'shielded'. This involves the patients being asked to strictly self-isolate for at least 12 weeks with additional funded support provided for them to remain at home. A group of rheumatologists (the authors) have devised a pragmatic guide to identifying the very highest risk group using a rapidly developed scoring system which went live simultaneous with the Government announcement on shielding and was cascaded to all rheumatologists working in England.