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Objective Generic preference-based HRQOL assessments used expressly for economic evaluation have not been examined in pediatric Crohn’s disease (CD) and ulcerative colitis (UC). The objective was to further assess the construct validity of preference-based HRQOL measures in pediatric IBD by comparing the Child Health Utility 9 Dimensions (CHU9D) and Health Utilities Index (HUI) to the disease-specific IMPACT-III and to the generic PedsQL in children with CD and with UC. Methods The CHU9D, HUI, IMPACT-III and/or PedsQL were administered to Canadian children aged 6 to 18 years with CD and UC. CHU9D total and domain utilities were calculated using adult and youth tariffs. HUI total and attribute utilities were determined for the HUI2 and HUI3. Total scores for IMPACT-III and PedsQL were determined. Spearman correlations were calculated between generic preference-based utilities and the IMPACT-III and PedsQL scores. Results The questionnaires were administered to 157 children with CD and 73 children with UC. Moderate to strong correlations were observed between the CHU9D, HUI2, HUI3 and the disease-specific IMPACT-III or generic PedsQL. As hypothesized, domains with similar constructs demonstrated stronger correlations, such as the Pain and Well-being domains. Conclusions While all questionnaires were moderately correlated with the IMPACT-III and PedsQL questionnaires, the CHU9D using youth tariffs and the HUI3 were most strongly correlated and would be suitable choices to generate health utilities for children with CD or UC for the purpose of economic evaluation of treatments in pediatric IBD.

Improved survival rates for children with intestinal failure (IF) have resulted in an increased population of children receiving long-term parenteral nutrition (PN). Our objective was to determine burden on caregivers of children with IF receiving long-term PN.We performed a cross-sectional study of caregivers of children with IF receiving long-term PN in our intestinal rehabilitation program. A healthy comparison group matched on age of the child was enrolled. All participants completed standardized questionnaires, including the Parental Stress Index - Short Form (PSI-SF), Hospital Anxiety and Depression Scale (HADS), and PedsQL Family Impact Module (PedsQL FIM). Univariate analysis was completed using a Student t test and chi-square, with an alpha value of0.05 considered significant.Thirty-eight caregivers of children with IF and 29 caregivers of healthy children consented, with response rates of 89% and 96.5%, respectively. Our study demonstrated increased stress for caregivers compared with comparison parents (PSI-SF total score of 83 [SD = 26.8] vs 62.9 [SD = 13.5]; P 0.01). Caregivers had increased anxiety (HADS anxiety score of 9.3 [SD = 4.8] vs 6.7 [SD = 3.2]; P = 0.02) and higher depression scores (HADS depression score of 6.3 [SD = 4.3] vs 4.1 [SD = 2.6]; P = 0.02) compared with the comparison group. Caregivers of children with IF demonstrated decreased health-related quality of life (HRQoL) (reduced PedsQL FIM total score of 50.6 [SD = 18.2] vs 84.1 [SD = 20.5]; P 0.01).Our results demonstrated significant burden of care in caregivers of children with IF receiving long-term PN, with elevated stress, anxiety, and depression and decreased HRQoL.

Genome sequencing (GS) outperforms other rare disease diagnostics, but standardized approaches to assessing its clinical utility are limited. This study assessed the validity of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE), a novel tool for assessing the utility of genetic testing from a clinician’s perspective, for GS. C-GUIDE ratings were completed for patients who received GS results. For each patient, total C-GUIDE and single item global scores were calculated. Construct validity was assessed using linear regression to determine the association between C-GUIDE total and global item scores and measure the effects of potential explanatory variables. Ratings were completed for 67 pediatric and 36 adult patients. GS indications were neurological for 70.9% and results were diagnostic for 28.2%. When the C-GUIDE assessed primary (PV), secondary (SV), and pharmacogenomic (PGx) variants, on average, a one unit increase in the global item score was associated with an increase of 7.3 in the C-GUIDE score (p p p p

Genome sequencing (GS) can aid clinical management of multiple pediatric conditions. Insurers require accurate cost information to inform funding and implementation decisions. The objective was to compare the laboratory workflows and microcosts of trio GS testing in children with developmental delay (DD) and in children with cardiac conditions.Cost items related to each step in trio GS (child and 2 parents) for both populations were identified and measured. Program costs over 5 years were estimated. Probabilistic and deterministic analyses were conducted.The mean cost per trio GS was CAD$6634.11 (95% CI = 6352.29-6913.40) for DD and CAD$8053.10 (95% CI = 7699.30-8558.10) for cardiac conditions. The 5-year program cost was CAD$28.11 million (95% CI = 26.91-29.29) for DD and CAD$5.63 million (95% CI = 5.38-5.98) for cardiac conditions. Supplies constituted the largest cost component for both populations. The higher cost per sample for the population with cardiac conditions was due to the inclusion of pharmacogenomics, higher bioinformatics labor costs, and a more labor intensive case review.This analysis indicated important variation in trio GS workflow and costs between pediatric populations in a single institution. Enhanced understanding of the clinical utility and costs of GS can inform harmonization and implementation decision-making.

To facilitate robust economic analyses of clinical exome and genome sequencing, this study was taken up with the objective of establishing a framework for organizing diagnostic testing trajectories for patients with rare disease.We collected diagnostic investigations-related data before exome sequencing from the medical records of 228 cases. Medical geneticist experts participated in a consensus building process to develop the SOLVE Framework for organizing the complex range of observed tests. Experts categorized tests as indicator or nonindicator tests on the basis of their specificity for diagnosing rare diseases. Face validity was assessed using case vignettes.Most cases had symptom onset at birth (42.5%) or during childhood (43.4%) and had intellectual disability (73.3%). On average, the time spent seeking a diagnosis before sequencing was 1989 days (SD = 2137) and included 16 tests (SD = 14). Agreement across experts on test categories ranged from 83% to 96%. The SOLVE Framework comprised observed tests, including 186 indicator and 39 nonindicator tests across cytogenetic/molecular, biochemical, imaging, electrical, and pathology test categories.Real-world diagnostic testing data can be ascertained and organized to reflect the complexity of the journey of the patients with rare diseases. SOLVE Framework will improve the accuracy and certainty associated with value-based assessments of genomic sequencing.

Purpose Health utilities are challenging to ascertain in children and have not been studied in pediatric Crohn’s disease (CD) and ulcerative colitis (UC). The objective was to assess discriminative validity by comparing utilities elicited using the Child Health Utility-9 Dimension (CHU9D) to the Health Utilities Index (HUI) across multiple disease activity scales in pediatric UC and CD. Methods Preference-based instruments were administered to 188 children with CD and 83 children with UC aged 6 to 18 years. Utilities were calculated using CHU9D adult and youth tariffs, and HUI2 and HUI3 algorithms in children with inactive (quiescent) and active (mild, moderate, and severe) disease. Differences between instruments, tariff sets and disease activity categories and were tested statistically. Results In CD and UC, all instruments detected significantly higher utilities for inactive compared to active disease (p Conclusion CHU9D and HUI discriminated between levels of disease activity in CD and UC regardless of the clinical scale used, with the CHU9D youth tariff most often displaying the lowest utilities for worse health states. Distinct utilities for different IBD disease activity states can be used in health state transition models evaluating the cost-effectiveness of treatments for pediatric CD and UC.

A randomized feasibility trial of a parent coaching (PC) intervention was conducted across 16 community agencies in a Canadian province. Parents of toddlers with suspected autism were assigned to either a PC group (n = 24) or an enhanced community treatment (ECT) group (n = 25). PC participants received 24 weeks of coaching support from community service providers trained in the project. Children in both groups also received available community services and supplementary materials. PC children made significantly greater gains in word understanding and PC parents had significantly higher quality of life, satisfaction, and self-efficacy scores. Results are discussed in terms of the challenges of conducting feasibility studies in community settings and the lessons learned in the project. Supplementary Information The online version contains supplementary material available at 10.1007/s10803-021-05390-1.

Early Intensive Behavioural Intervention (EIBI) is effective for preschoolers with autism spectrum disorder (ASD). Parental measures are rarely included in EIBI effectiveness studies, yet parental distress and lower self-efficacy are associated with poorer child outcomes. Parents of preschoolers with ASD (N = 485) were surveyed at baseline (T1), one-year post-intervention (T2), and school entry (T3) about family distress/crisis, parental self-efficacy, and satisfaction with services in two Canadian provinces. Family distress/crisis decreased and parental self-efficacy increased from T1 to T2. Increases in self-efficacy were largely maintained at T3. Parents were highly satisfied with services. Greater satisfaction for those residing in the province utilizing a parent-coaching model suggests that parent involvement is associated with positive parent outcomes.

To synthesize and appraise economic evaluations of vision screening to detect vision impairment in children.Literature searches were conducted on seven electronic databases, grey literature, and websites of agencies conducting health technology assessments. Studies were included if they (1) were full, comparative economic evaluations that used cost-utility, cost-benefit, cost-effectiveness, cost-consequence, or cost-analysis methods; (2) described screening services designed to detect amblyopia, strabismus, or uncorrected refractive errors in children under 6 years of age; and (3) published after 1994. High-quality studies were synthesized descriptively. Currencies were reported in 2019 Canadian dollars. Quality was assessed with the Pediatric Quality Appraisal Questionnaire (PQAQ).Vision screening services were conducted by paid staff, volunteers, or health care professionals in schools or clinics. Thirteen studies were published from five countries: China (n = 1), United States (n = 4), United Kingdom (n = 1), Canada (n = 1), and Germany (n = 6). Analytical techniques included cost-utility/cost-effectiveness combination (n = 2), cost-effectiveness analysis (n = 7), cost-utility analysis (n = 1), cost-benefit analysis (n = 1), cost-consequence analysis (n = 1), and cost analysis (n = 1). Incremental cost-effectiveness ratios ranged from C$1,056 to C$151,274 per additional case detected/prevented and from C$9,429 to C$30,254,703 per additional QALY gained, depending on the type of screening service and comparator. Six studies were determined to be of high quality.Vision screening to detect amblyopia for young children may be cost-effective compared with no screening if amblyopia reduced quality of life. Studies varied significantly in the type of screening services and comparators used. Methodological limitations were common. Future studies would be aided immensely by prospective studies on the impact of amblyopia on the health-related quality of life of young children and guidelines on the effective conduct of vision screening.RéSUMé: OBJECTIF: Synthétiser et évaluer des évaluations économiques de dépistages visuels visant à détecter la déficience visuelle chez les enfants. MéTHODE: Nous avons interrogé sept bases de données électroniques, la littérature grise et les sites Web d’organismes effectuant des évaluations des technologies de la santé. Nous avons inclus les études correspondant aux critères suivants : (1) évaluations économiques comparatives exhaustives utilisant l’analyse coûts-utilité, coûts-bénéfices, coûts-efficacité ou coûts-conséquences ou l’analyse des coûts; (2) décrivant des services de dépistage visant à détecter l’amblyopie, le strabisme ou les anomalies de la réfraction non corrigées chez les enfants de moins de six ans; et (3) publiées après 1994. Nous avons fait la synthèse descriptive des études de haute qualité. Les devises ont été converties en dollars canadiens de 2019. Nous avons évalué la qualité des études à l’aide de l’outil PQAQ (Pediatric Quality Appraisal Questionnaire). RéSULTATS: Les services de dépistage visuel étaient offerts par du personnel rémunéré, des bénévoles ou des professionnels de santé dans des écoles ou des cliniques. Treize études ont été publiées dans cinq pays : Chine (n = 1), États-Unis (n = 4), Royaume-Uni (n = 1), Canada (n = 1) et Allemagne (n = 6). Les techniques d’analyse employées étaient la combinaison analyse coûts-utilité/analyse coûts-efficacité (n = 2), l’analyse coûts-efficacité (n = 7), l’analyse coûts-utilité (n = 1), l’analyse coûts-avantages (n = 1), l’analyse coûts-conséquences (n = 1) et l’analyse des coûts (n = 1). Les rapports coût-efficacité différentiels s’échelonnaient entre 1 056 $ CA et 151 274 $ CA par cas supplémentaire détecté/prévenu et entre 9 429 $ CA et 30 254 703 $ CA par année de vie pondérée par la qualité (AVPQ) supplémentaire gagnée, selon le type de service de dépistage et le comparateur. Six études ont été jugées être de haute qualité. CONCLUSION: Comparativement à l’absence de dépistage, les dépistages visuels pour détecter l’amblyopie chez les jeunes enfants peuvent être efficaces par rapport à leur coût lorsque l’amblyopie réduit la qualité de vie. Le type de services de dépistage et les comparateurs utilisés variaient considérablement d’une étude à l’autre. Les contraintes méthodologiques étaient courantes. Les études futures seraient grandement favorisées par des études prospectives des incidences de l’amblyopie sur la qualité de vie liée à la santé chez les jeunes enfants et par des lignes directrices sur l’exécution efficace des dépistages visuels.

ImportanceClinicians, patients, and policy makers rely on published results from clinical trials to help make evidence-informed decisions. To critically evaluate and use trial results, readers require complete and transparent information regarding what was planned, done, and found. Specific and harmonized guidance as to what outcome-specific information should be reported in publications of clinical trials is needed to reduce deficient reporting practices that obscure issues with outcome selection, assessment, and analysis.ObjectiveTo develop harmonized, evidence- and consensus-based standards for reporting outcomes in clinical trial reports through integration with the Consolidated Standards of Reporting Trials (CONSORT) 2010 statement.Evidence ReviewUsing the Enhancing the Quality and Transparency of Health Research (EQUATOR) methodological framework, the CONSORT-Outcomes 2022 extension of the CONSORT 2010 statement was developed by (1) generation and evaluation of candidate outcome reporting items via consultation with experts and a scoping review of existing guidance for reporting trial outcomes (published within the 10 years prior to March 19, 2018) identified through expert solicitation, electronic database searches of MEDLINE and the Cochrane Methodology Register, gray literature searches, and reference list searches; (2) a 3-round international Delphi voting process (November 2018-February 2019) completed by 124 panelists from 22 countries to rate and identify additional items; and (3) an in-person consensus meeting (April 9-10, 2019) attended by 25 panelists to identify essential items for the reporting of outcomes in clinical trial reports.FindingsThe scoping review and consultation with experts identified 128 recommendations relevant to reporting outcomes in trial reports, the majority (83%) of which were not included in the CONSORT 2010 statement. All recommendations were consolidated into 64 items for Delphi voting; after the Delphi survey process, 30 items met criteria for further evaluation at the consensus meeting and possible inclusion in the CONSORT-Outcomes 2022 extension. The discussions during and after the consensus meeting yielded 17 items that elaborate on the CONSORT 2010 statement checklist items and are related to completely defining and justifying the trial outcomes, including how and when they were assessed (CONSORT 2010 statement checklist item 6a), defining and justifying the target difference between treatment groups during sample size calculations (CONSORT 2010 statement checklist item 7a), describing the statistical methods used to compare groups for the primary and secondary outcomes (CONSORT 2010 statement checklist item 12a), and describing the prespecified analyses and any outcome analyses not prespecified (CONSORT 2010 statement checklist item 18).Conclusions and RelevanceThis CONSORT-Outcomes 2022 extension of the CONSORT 2010 statement provides 17 outcome-specific items that should be addressed in all published clinical trial reports and may help increase trial utility, replicability, and transparency and may minimize the risk of selective nonreporting of trial results.

Cascade genetic testing is the identification of individuals at risk for a hereditary condition by genetic testing in relatives of people known to possess particular genetic variants. Cascade testing has health system implications, however cascade costs and health effects are not considered in health technology assessments (HTAs) that focus on costs and health consequences in individual patients. Cascade health service use must be better understood to be incorporated in HTA of emerging genetic tests for children. The purpose of this review was to characterise published research related to patterns and costs of cascade health service use by relatives of children with any condition diagnosed through genetic testing. To this end, a scoping literature review was conducted. Citation databases were searched for English-language papers reporting uptake, costs, downstream health service use, or cost-effectiveness of cascade investigations of relatives of children who receive a genetic diagnosis. Included publications were critically appraised, and findings were synthesised. Twenty publications were included. Sixteen had a paediatric proband population; four had a combined paediatric and adult proband population. Uptake of cascade testing varied across diseases, from 37% for cystic fibrosis, 39% to 65% for hypertrophic cardiomyopathy, and 90% for rare monogenic conditions. Two studies evaluated costs. It was concluded that cascade testing in the child-to-parent direction has been reported in a variety of diseases, and that understanding the scope of cascade testing will aid in the design and conduct of HTA of emerging genetic technologies to better inform funding and policy decisions.

Background Executive functioning (EF) varies in children with autism spectrum disorder (ASD) and is associated with clinical symptoms, academic, and adaptive functioning. Here, we examined whether middle-childhood EF mediates associations between early-childhood autism symptoms and adolescent outcomes in children with ASD. Methods The Pathways in ASD Cohort comprising children recruited at the time of ASD diagnosis (at 2-4 years-of-age) and followed prospectively across eight subsequent timepoints over ˜10 years was used. A subset of Pathways participants (n = 250) with Behavior Rating Inventory of Executive Function (BRIEF)-Parent Form data from at least one timepoint when participants were school-aged was analyzed. A mediation framework was used to examine whether BRIEF-measured EF across age 7-10 years (middle-childhood) mediated associations between early-childhood autism symptoms (measured using the parent-report Social Responsiveness Scale across age 2-6 years) and clinical, academic, and functional outcomes, indexed at age >10-11.8 years (early-adolescence) using the Child Behavior Checklist (CBCL)-Internalizing and Externalizing Scales, Academic Performance from the Teacher's Report Form, and Vineland Adaptive Behavior Scales. Models were rerun substituting clinician-rated and teacher-rated measures, where possible. Results Mediation models indicated a significant indirect effect of middle-childhood EF on associations between early-childhood autism symptoms and externalizing behavior, academic performance, or adaptive functioning in early adolescence; kappa squared (κ2 ) effect sizes ranged from large to small. Model findings were stable across raters. Middle-childhood EF did not mediate associations between early-childhood autism symptoms and adolescent internalizing behavior. Conclusions Among children with an ASD diagnosis, middle-childhood EF may be one pathway through which early-childhood autism symptoms influence a variety of outcomes in early-adolescence. An experimental study targeting middle-childhood EF to improve adolescent academic, emotional/behavioral, and adaptive functioning is needed to evaluate the clinical meaningfulness of these findings.

Precision health aims to personalize treatment and prevention strategies based on individual genetic differences. While it has significantly improved healthcare for specific patient groups, broader translation faces challenges with evidence development, evidence appraisal, and implementation. These challenges are compounded in child health as existing methods fail to incorporate the physiology and socio-biology unique to childhood. This scoping review synthesizes the existing literature on evidence development, appraisal, prioritization, and implementation of precision child health. PubMed, Scopus, Web of Science, and Embase were searched. The included articles were related to pediatrics, precision health, and the translational pathway. Articles were excluded if they were too narrow in scope. In total, 74 articles identified challenges and solutions for putting pediatric precision health interventions into practice. The literature reinforced the unique attributes of children and their implications for study design and identified major themes for the value assessment of precision health interventions for children, including clinical benefit, cost-effectiveness, stakeholder values and preferences, and ethics and equity. Tackling these identified challenges will require developing international data networks and guidelines, re-thinking methods for value assessment, and broadening stakeholder support for the effective implementation of precision health within healthcare organizations. This research was funded by the SickKids Precision Child Health Catalyst Grant.

While electrolyte maintenance solution is recommended and commonly used in pediatric gastroenteritis, it can be more costly and less palatable than preferred fluids such as apple juice. To assess the incremental cost-effectiveness of apple juice/preferred fluids versus electrolyte maintenance solution in reducing treatment failures in children in an emergency department from societal and health care perspectives. A probabilistic cost-effectiveness analysis was performed using clinical trial and chart data. All intervention, and direct and indirect costs were included, with a 14-day time horizon. Cost-effectiveness was examined by calculating the difference in mean number of treatment failures and mean cost/patient between treatment groups. The probabilistic point estimate and 95% confidence intervals for incremental costs and incremental effectiveness were determined. The apple juice strategy was less costly than electrolytes with average per child savings of CAD $171 (95% CI $22 to $1097) from a societal perspective, and $147 (95% CI $23 to $1056) from a health care perspective. There were 0.08 fewer treatment failures per child (95% CI − 0.15 to − 0.02). The higher electrolyte maintenance solution cost was due to more frequent hospitalizations, ongoing care, and greater lost parental productivity due to additional medical visits. Apple juice/preferred fluids strategy was dominant over electrolytes in the treatment of children with minimal dehydration secondary to acute gastroenteritis as this option yielded fewer treatment failures and a lower societal cost. Given the high prevalence of acute gastroenteritis, this approach may result in significant cost savings while leading to improved clinical outcomes.

Purpose Genetic testing is routine practice for individuals with unexplained developmental disabilities and multiple congenital anomalies. However, current testing pathways can be costly and time consuming, and the diagnostic yield low. Genome-wide sequencing, including exome sequencing (ES) and genome sequencing (GS), can improve diagnosis, but at a higher cost. This study aimed to assess the cost-effectiveness of genome-wide sequencing in Ontario, Canada. Methods A cost-effectiveness analysis was conducted using a discrete event simulation from a public payer perspective. Six strategies involving ES or GS were compared. Outcomes reported were direct medical costs, number of molecular diagnoses, number of positive findings, and number of active treatment changes. Results If ES was used as a second-tier test (after the current first-tier, chromosomal microarray, fails to provide a diagnosis), it would be less costly and more effective than standard testing (CAN$6357 [95% CI: 6179-6520] vs. CAN$8783 per patient [95% CI: 2309-31,123]). If ES was used after standard testing, it would cost an additional CAN$15,228 to identify the genetic diagnosis for one additional patient compared with standard testing. The results remained robust when parameters and assumptions were varied. Conclusion ES would likely be cost-saving if used earlier in the diagnostic pathway.

This study examined the trajectories of autistic symptom severity in an inception cohort of 187 children with ASD assessed across four time points from diagnosis to age 10. Trajectory groups were derived using multivariate cluster analysis. A two trajectory/cluster solution was selected. Change in trajectory slopes revealed a turning point marked by plateauing in symptom reduction during the period of transition to school (age 6) for one of the two trajectories. Trajectories were labelled: Continuously Improving (27%) and Improving then Plateauing (73% of sample). Children in the two trajectories differed in levels of symptom severity, language, cognitive, and adaptive functioning skills. Study findings can inform the development of more personalized services for children with ASD transitioning into the school system. Supplementary Information The online version of this article (10.1007/s10803-021-04949-2) contains supplementary material, which is available to authorized users.

This study examined parental perceptions of the character traits of children with autism from early childhood to age 11. Parents (n = 153) provided descriptions of the "best things" about their children on the Child Behavior Checklist (CBCL) at ages 3-4, 7-8, and 10-11 years. Descriptions were coded using the framework of the Values in Action Classification of Strengths, with additional traits added as needed. Parent-endorsed traits included love, kindness, happiness, and humor in children across all ages and traits such as perseverance as children entered school. Higher CBCL scores were associated with a lower likelihood of endorsement for Humanity traits. Results are congruent with a contemporary neurodiversity perspective that emphasizes strengths and resilience.

Genome-wide sequencing has emerged as a promising strategy for the timely diagnosis of rare diseases, but it is not yet available as a clinical test performed in Canadian diagnostic laboratories. We describe the protocol for evaluating a 2-year pilot project, Genome-wide Sequencing Ontario, to offer high-quality clinical genome-wide sequencing in Ontario, Canada.The Genome-wide Sequencing Ontario protocol was codesigned by the Ontario Ministry of Health, the Hospital for Sick Children in Toronto and the Children's Hospital of Eastern Ontario in Ottawa. Enrolment of a prospective cohort of patients began on Apr. 1, 2021. Eligible cases with blood samples available for the index case and both parents (i.e., trios) are randomized to receive exome sequencing or genome sequencing. We will collect patient-level data and ascertain costs associated with the laboratory workflow for exome sequencing and genome sequencing. We will compare point estimates for the diagnostic utility and timeliness of exome sequencing and genome sequencing, and we will determine an incremental cost-effectiveness ratio (expressed as the incremental cost of genome sequencing versus exome sequencing per additional patient with a causal variant detected).Findings from this work will provide robust evidence for the diagnostic utility, cost-effectiveness and timeliness of exome sequencing and genome sequencing, and will be disseminated via academic publications and policy briefs. Findings will inform provincial and cross-provincial policy related to the long-term organization, delivery and reimbursement of clinical-grade genome diagnostics for rare disease.

For children with autism spectrum disorder (ASD), a lifelong neurodevelopmental condition, assessment and treatment services vary widely across Canada—potentially creating inequities. To highlight this, the Preschool Autism Treatment Impact study compared children’s services and outcomes in New Brunswick (NB) and Nova Scotia (NS). Diagnostic practices, service delivery models, wait times, and treatment approaches differed, as did children’s 1-year outcomes and costs for families and the public sector. Considering NB and NS strengths, we suggest that an optimal system would include: rapid access to high-quality diagnostic and intervention services; adherence to research-informed practice guidelines; interventions to enhance parents’ skills and self-efficacy; and measures to minimize financial burdens for families. Our results also suggest that provinces/territories must do more to ensure equitable access to effective services, including sharing and reporting on national comparative data. Canadian children with ASD deserve access to effective and consistent services, no matter where they live.

Temperament is a construct that is relatively stable over time but varies between individuals. Research suggests that children with autism spectrum disorder have a ‘reactive’ temperament profile when compared to peers with or without disabilities. However, our understanding of how temperament varies within children with autism and how it relates to child symptoms and outcomes is limited. This study aimed to (a) explore the variation of individual temperament traits within a sample of school-aged children with autism to determine whether subgroups of children with similar trait profiles emerge and (b) examine whether temperament influences the relationship between autism symptoms and adaptive functioning outcomes. Results revealed that children with autism can be classified empirically into two distinct profiles – ‘Even’ and ‘Reactive’ temperaments. Correlational and hierarchical regression analyses indicated that both temperament profiles and baseline symptom severity predicted adaptive functioning outcomes 1 year later. There was a significant interaction between temperament and symptom severity, suggesting temperament can influence the impact of increasing symptom severity on adaptive functioning skills in children with autism. Study findings highlight the importance of considering temperament in understanding the individual differences that influence the development of daily functioning and developmental outcomes in children with autism. Lay Abstract Temperament is often thought of as behavioural traits that are relatively stable over time but can vary between individuals. Children diagnosed with autism spectrum disorder are often characterized as having ‘reactive’ and ‘negative’ temperaments when compared to same-aged peers with or without disabilities, which can negatively impact the development of adaptive functioning skills but little is known about variations of temperament between individual children diagnosed with autism spectrum disorder. This study aimed to (a) explore the variation of individual temperament traits within a sample of school-aged children with autism spectrum disorder to determine whether subgroups with similar trait profiles emerge and (b) examine whether temperament influences the relationship between autism symptoms and adaptive functioning outcomes. Results from our dataset suggest that children diagnosed with autism spectrum disorder fit under two profiles: ‘even’ and ‘reactive’. Furthermore, our analysis shows that temperament can influence the impact of increasing symptom severity on adaptive functioning skills in children with autism spectrum disorder. Study findings highlight the importance of considering temperament when trying to understand the individual differences that influence the development of functioning and developmental outcomes in children with autism spectrum disorder.

Objective: The purpose of the study was to identify profiles and predictors of academic and social functioning in a sample of school-age children with autism spectrum disorder.Method: The study inc...

This study investigated rates of suicidal ideation (SI) and suicidal and/or self-injurious behaviour (SSIB) reported by parents on the Child Behavior Checklist for 178 children with ASD over four annual assessments (ages 7-11 years). Analyses examined the frequency and persistence of SI and SSIB, and the association of SI and SSIB at any time point with child characteristics and internalizing and externalizing problems at age 7. SI occurred in 9.6% of children and was associated with fewer ASD symptoms and better adaptive functioning at age 7. SSIB occurred in 14.6% and was associated with poorer adaptive functioning and more externalizing behaviour at age 7. Internalizing problems were not associated with SI or SSIB at any time point. SI and SSIB rarely co-occurred (4%).

Direct-to-consumer (DTC) genetic testing exists largely outside of any regulatory schemes, and studies providing a comprehensive overview of the ethical, social, legal, and technological considerations for regulating these types of technologies are lacking. This paper uses the 3-I framework for policy analysis to analyze the ideas, interests, and institutions relevant to policy development for DTC genetic testing in North America and internationally. A scoping review was conducted. Citation databases were searched for papers addressing the ethical, social, legal, and technological implications of DTC genetic testing; stakeholder perspectives on and experiences with DTC genetic testing; or the effect of such testing on the healthcare system. Ninety-nine publications, organizational reports, governmental documents, or pieces of legislation were included. The ideas included are autonomy, informed decision making, privacy, and clinical validity and utility. The interests discussed are those of the public and healthcare providers. The institutions included are regulatory organizations such as the Food and Drug Administration in the United States, laws governing the implementation or delivery of genetic testing in general, and legislation created to protect against genetic discrimination. This analysis clarifies the ethical, social, legal, and technological issues of DTC genetic testing regulation. This information can be used by policy makers to develop or strengthen regulations for DTC genetic testing such as requiring an assessment of the clinical validity of tests before they become publicly available, controlling how tests are marketed, and stipulating requirements for healthcare provider involvement and informed consent. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-022-00582-3.

To measure the time that caregivers spend on tasks related to providing care to their child with intestinal failure receiving home parenteral nutrition (PN).We conducted an exploratory cross-sectional study of caregivers of children with intestinal failure receiving long-term PN followed by our intestinal rehabilitation program. Caregivers completed a daily diary of care-related tasks. Data were analyzed using descriptive statistics. Exploratory models were completed to evaluate factors that influenced the amount of time that caregivers spent providing care. SAS University Edition 2018 (SAS Institute, Cary, NC) was used for data analysis with a P value of less than .05 considered significant.Thirty-four caregivers of children with intestinal failure consented with response rates of 85%. The mean age of the primary caregiver was 37 ± 7.9 years of age with 97% being the child's mother. The median PN exposure was 1239 days (IQR, 432-3012). Caregivers reported a median of 29.2 hours per week (IQR, 20.8-45.7 hours per week) of direct medical care. The majority of time was spent on providing PN and care of the central venous catheter (6.1 hours; IQR, 5.2-8.8).Caregivers of children with intestinal failure receiving long-term PN provide a significant amount of care to ensure their child remains healthy at home. The most significant amounts of time were spent on the administration of the PN and care of the central venous catheter.

Children with intestinal failure (IF) receiving long-term parenteral nutrition (PN) require significant medical care, including high-risk procedures such as accessing a central venous catheter, with the majority provided by family caregivers in the home. This study sought to understand the experiences of family caregivers.This was a qualitative study of family caregivers of children with IF. Participants were recruited from an intestinal rehabilitation program to participate in virtual focus groups, which were recorded and transcribed. Thematic analysis was used to capture and describe experiences.Thirteen caregivers providing care to 11 children participated in three virtual focus groups held between May and June 2020. Data analysis revealed five primary themes: (1) caregiving as a 24/7 commitment, (2) facing constant risk of death, (3) chronic illness creates difficult feelings and emotions, (4) effects on all aspects of family life, and (5) adapting and functioning as a family. The findings of this study pair well with the biopsychosocial model highlighting the need for multifaceted assessment and supports.The impact of caring for a child with IF receiving long-term PN is significant for caregivers and their families and has implications for all aspects of their lives. A better understanding of the impact on caregivers and their coping strategies lays the groundwork for the optimization of quality of life for caregivers and their family.

Language regression, broadly defined as the loss of acquired language skills in early childhood, is a distinctive feature of autism. Little is known about the factors underlying regression or the prognosis of children who exhibit regression. We examine potential predictors of language regression and test its association with language development in a prospective longitudinal sample of children with autism spectrum disorder (ASD) from diagnosis to age 10 years.We analysed data from Pathways in ASD, a prospective longitudinal study of 421 children enrolled around the time of an autism diagnosis between 2 and 5 years. Autism Diagnostic Interview-Revised data were available for 408 children, of whom 90 (22%) were classified as having language regression.Demographic and other health factors including caregiver education, family income, child sex, reported seizures, and age of enrolment did not differ between children with and without language regression. Children with language regression walked earlier and attained first words sooner than those without regression. However, both groups attained phrase speech at comparable ages. Those with regression exhibited greater delays in expressive and receptive communication over the follow-up period, although this effect was attenuated when accounting for baseline differences in motor and cognitive ability. Overall, those with language regression continued to exhibit expressive but not receptive communication delay compared to those without regression. Communication trajectories were heterogeneous to age 10 years, irrespective of regression status.Although language regression can be alarming, our findings confirm that its occurrence does not necessarily foreshadow worse developmental outcomes relative to those without regression. Although a discrepancy in age-equivalent communication skills may persist, this can be expected to be of less practical importance with rising average levels of skills. Future studies need to account for the significant variability in language trajectories by considering factors beyond developmental regression.

Children with autism spectrum disorder (ASD) receive a wide range of services.To examine the association between behavioural services received by children with ASD between ages 2 and 5 years and outcomes during primary school years.A total of 414 preschool-aged children diagnosed with ASD were enrolled at five Canadian sites and were assessed within four months of diagnosis (T1), six months later (T2), 12 months later (T3), at school entry (T4), and then annually (T5-T8) to 11 years of age. The association between the receipt of behavioural services during T1 to T3 and T8 outcomes related to adaptive behaviour and behavioural problems was modelled using linear regressions adjusted for immigrant status, family income, child's age at diagnosis, site, sex assigned at birth, and baseline (T1) outcome.Children who received behavioural services during at least one time period from T1 to T3 did not have significantly different outcomes at T8 than children who did not receive any behavioural services.Pre-school use of behavioural services was not found to affect outcomes during later childhood. Numerous challenges accompany studies of the association between pre-school service use and later outcomes in a heterogeneous ASD sample. Recommendations for study design are provided.

This study evaluated the fidelity and effectiveness of a parent coach training program for toddlers at risk for autism spectrum disorder and identified factors required for successful training implementation under real-world conditions. Training addressed four tiers of clinical competence and was delivered to early intervention providers across 23 partner agencies in a large Canadian province. Results indicated that mean trainee fidelity scores were within the range reported in previous community-based training studies but there was considerable variability across trainees. Implementation facilitators included agency learning climate, leadership support, and trainee readiness for change. Implementation barriers included time/caseload demands and challenges related to technology learning and infrastructure. Results have implications for parent coach training in community settings. Supplementary Information The online version contains supplementary material available at 10.1007/s10803-021-05363-4.

Early Intensive Behavioural Intervention (EIBI) is effective for preschoolers with autism spectrum disorder (ASD). Parental measures are rarely included in EIBI effectiveness studies, yet parental distress and lower self-efficacy are associated with poorer child outcomes. Parents of preschoolers with ASD (N = 485) were surveyed at baseline (T1), one-year post-intervention (T2), and school entry (T3) about family distress/crisis, parental self-efficacy, and satisfaction with services in two Canadian provinces. Family distress/crisis decreased and parental self-efficacy increased from T1 to T2. Increases in self-efficacy were largely maintained at T3. Parents were highly satisfied with services. Greater satisfaction for those residing in the province utilizing a parent-coaching model suggests that parent involvement is associated with positive parent outcomes.

ImportanceScreening for amblyopia in primary care visits is recommended for young children, yet screening rates are poor. Although the prevalence of amblyopia is low (3%-5%) among young children, universal screening in schools and mandatory optometric examinations may improve vision care, but the cost-effectiveness of these vision testing strategies compared with the standard in primary care is unknown.ObjectiveTo evaluate the relative cost-effectiveness of universal school screening and mandated optometric examinations compared with standard care vision screening in primary care visits in Toronto, Canada, with the aim of detecting and facilitating treatment of amblyopia and amblyopia risk factors from the Ontario government’s perspective.Design, Setting, and ParticipantsAn economic evaluation was conducted from July 2019 to May 2021 using a Markov model to compare 15-year costs and quality-adjusted life-years (QALYs) between school screening and optometric examination compared with primary care screening in Toronto, Canada. Parameters were derived from published literature, the Ontario Schedule of Benefits and Fees, and the Kindergarten Vision Testing Program. A hypothetical cohort of 25 000 children aged 3 to 5 years was simulated. It was assumed that children in the cohort had irreversible vision impairment if not diagnosed by an optometrist. In addition, incremental costs and outcomes of 0 were adjusted to favor the reference strategy. Vision testing programs were designed to detect amblyopia and amblyopia risk factors.Main Outcomes and MeasuresFor each strategy, the mean costs per child included the costs of screening, optometric examinations, and treatment. The mean health benefits (QALYs) gained were informed by the presence of vision impairment and the benefits of treatment. Incremental cost-effectiveness ratios were calculated for each alternative strategy relative to the standard primary care screening strategy as the additional cost required to achieve an additional QALY at a willingness-to-pay threshold of $50 000 Canadian dollars (CAD) ($37 690) per QALY gained.ResultsSchool screening relative to primary care screening yielded cost savings of CAD $84.09 (95% CI, CAD $82.22-$85.95) (US $63.38 [95% CI, US $61.97-$64.78]) per child and an incremental gain of 0.0004 (95% CI, −0.0047 to 0.0055) QALYs per child. Optometric examinations relative to primary care screening yielded cost savings of CAD $74.47 (95% CI, CAD $72.90-$76.03) (US $56.13 [95% CI, $54.95-$57.30]) per child and an incremental gain of 0.0508 (95% CI, 0.0455-0.0561) QALYs per child. At a willingness-to-pay threshold of CAD $50 000 (US $37 690) per QALY gained, school screening and optometric examinations were cost-effective relative to primary care screening in only 20% and 29% of iterations, respectively.Conclusions and RelevanceIn this study, because amblyopia prevalence is low among young children and most children in the hypothetical cohort had healthy vision, universal school screening and optometric examinations were not cost-effective relative to primary care screening for detecting amblyopia in young children in Toronto, Canada. The mean added health benefits of school screening and optometric examinations compared with primary care screening did not warrant the resources used.

Background. Policies mandating the use of lower cost biosimilars in patients with inflammatory bowel disease (IBD) have created concerns for patients who prefer their original biologic. Purpose. To inform the cost-effectiveness of biosimilar infliximab treatment in IBD by systematically reviewing the effect of infliximab price variation on cost-effectiveness for jurisdictional decision making. Data Sources. MEDLINE, Embase, Healthstar, Allied and Complementary Medicine, Joanna Briggs Institute EBP Database, International Pharmaceutical Abstracts, Health and Psychosocial Instruments, Mental Measurements Yearbook citation databases, PEDE, CEA registry, HTA agencies. Study Selection. Economic evaluations of infliximab for adult or pediatric Crohn’s disease and/or ulcerative colitis published from 1998 through 2019 in which drug price was varied in sensitivity analysis were included. Data Extraction. Study characteristics, main findings, and results of drug price sensitivity analyses were extracted. Studies were critically appraised. The cost-effective price of infliximab was determined based on the stated willingness-to-pay (WTP) thresholds for each jurisdiction. Data Synthesis. Infliximab price was examined in sensitivity analysis in 31 studies. Infliximab showed favorable cost-effectiveness at a price ranging from CAD $66 to $1,260 per vial, depending on jurisdiction. A total of 18 analyses (43%) demonstrated cost-effectiveness ratios above the jurisdictional WTP threshold. Limitations. Drug prices were not always reported separately, WTP thresholds varied, and funding sources were not consistently reported. Conclusion. Despite the high cost of infliximab, few economic evaluations examined price variation, limiting the ability to infer the effects of biosimilar introduction. Alternative pricing strategies and access to treatment could be considered to enable IBD patients to maintain access to their current medications. Highlights In an effort to reduce public drug expenditures, Canadian and other jurisdictional drug plans have mandated the use of lower cost, but similarly effective, biosimilars in patients with newly diagnosed inflammatory bowel disease or require a nonmedical switch for established patients. This switch has created concerns for patients and clinicians who want to maintain the ability to make treatment decisions and remain with the original biologic. It is customary for economic evaluations to assess the robustness of results to variations in high-cost items such as medications. In the absence of economic evaluations of biosimilars, examining biologic drug price in sensitivity analysis provides insight into the cost-effectiveness of biosimilar alternatives. A total of 31 economic evaluations of infliximab for the treatment of inflammatory bowel disease varied the infliximab price in sensitivity analysis. The infliximab price deemed to be cost-effective within each study ranged from CAD $66 to CAD $1,260 per 100-mg vial. A total of 18 analyses (43%) demonstrated an incremental cost-effectiveness ratio above the jurisdictional willingness-to-pay threshold. If policy decisions are based on price, then originator manufacturers could consider reducing the price or negotiating alternative pricing models to enable patients with inflammatory bowel disease to remain on their current medications.

Fetal alcohol spectrum disorder (FASD) is a condition that results from prenatal alcohol exposure. Though diagnosis is important for individuals with FASD to receive appropriate care, diagnosis can be difficult to obtain. Accurate diagnoses can be impeded because of an inability to confirm prenatal alcohol exposure. This is particularly problematic in instances when family cannot confirm prenatal alcohol exposure. DNA methylation testing represents a novel approach to identifying prenatal alcohol exposure via epigenetic biomarkers. The objective was to assess the impact on laboratory expenditures from adopting DNA methylation additively to the diagnostic workup for patients suspected of having FASD for whom prenatal alcohol exposure cannot be otherwise confirmed. A budget impact model was developed that incorporates laboratory cost data, population data for Manitoba Canada, literature, and expert opinion. Probabilistic analysis was conducted for the primary analysis and deterministic sensitivity analyses were conducted to assess the sensitivity of the budget impact to changes in model parameters. The perspective of the present study is that of the laboratory budget holder at a centralized laboratory in Manitoba, Canada. Over a 5-year period, it was estimated that there would be 500 DNA methylation tests and the predicted budget impact to the laboratory budget holder was $207,574 (95% credible interval: 70,208–408,161) in Canadian dollars (CAD). Over a 10-year period, it was estimated that there would be 1017 DNA methylation tests and the predicted budget impact to the laboratory budget holder was CAD$439,470 (95% credible interval: 148,902–867,328). Findings provide insight into the impact that DNA methylation testing would have on laboratory budgets if used in the diagnostic workup for FASD in individuals for whom prenatal alcohol exposure cannot be confirmed otherwise.

Background Anti–tumor necrosis factor–α (anti-TNF-α) treatments are increasingly used to treat pediatric Crohn’s disease, even without a prior trial of immunomodulators, but the cost-effectiveness of such treatment algorithms has not been formally examined. Drug plan decision-makers require evidence of cost-effectiveness to inform funding decisions. The objective was to assess the incremental cost-effectiveness of early intervention with anti-TNF-α treatment vs a conventional step-up strategy per steroid-free remission-week gained from public health care and societal payer perspectives over 3 years. Methods A probabilistic microsimulation model was constructed for children with newly diagnosed moderate to severe Crohn’s disease receiving anti-TNF-α treatment and concomitant treatments within the first 3 months of diagnosis compared with children receiving standard care consisting of steroids and/or immunomodulators with the possibility of anti-TNF-α treatment after 3 months of diagnosis. A North American multicenter observational study with 360 patients provided input into clinical outcomes and health care resource use. Results Early intervention with anti-TNF-α treatment was more costly, with an incremental cost of CAD$31,112 (95% confidence interval [CI], $2939–$91,715), and more effective, with 11.3 more weeks in steroid-free remission (95% CI, 10.6–11.6) compared with standard care, resulting in an incremental cost per steroid-free remission-week gained of CAD$2756 from an Ontario public health care perspective and CAD$2968 from a societal perspective. The incremental cost-effectiveness ratio was sensitive to the price of infliximab. Conclusions The results suggest that although early anti-TNF-α was not cost-effective, it was clinically beneficial. These findings, along with other randomized controlled trial evidence, may inform formulary decision-making.

Preschool children with autism spectrum disorder (ASD) experience slower development of daily living skills (DLS) that are essential for independent functioning compared to typically developing children. Few studies have examined the trajectories of DLS in preschoolers with ASD and the existing literature has reported conflicting results. This study examined DLS trajectories and potential covariates for preschoolers with ASD from a multi-site longitudinal study following children from diagnosis to the end of grade 1. Multi-level modeling was conducted with DLS domain scores from the Vineland Adaptive Behavior Scales-2. The results demonstrated a positive trajectory of increasing scores over time, associations of age of diagnosis, developmental level, stereotypy, and language skills with the mean score at T4 or age 6 years, whereas rate of change was only associated with ASD symptom severity, such that an improvement in DLS trajectory was associated with lower and improving ASD symptom severity.

Purpose Clinical utility describes a genetic test’s value to patients, families, health-care providers, systems, or society. This study aims to define clinical utility from the perspective of clinicians and develop a novel outcome measure that operationalizes this concept. Methods Item selection for the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) was informed by a scoping review of the literature. Item reduction was guided by qualitative and quantitative feedback from semistructured interviews and a cross-sectional survey of genetics and nongenetics specialists. Final item selection, index scoring, and structure were guided by feedback from an expert panel of genetics professionals. Results A review of 194 publications informed the selection of a preliminary set of 25 items. Feedback from 35 semistructured interviews, 113 surveys, and 11 expert panelists informed the content and wording of C-GUIDE’s final set of 18 items that reflect on the utility of testing related to diagnosis, management, and familial/psychosocial impact. C-GUIDE achieves content and face validity for use in a range of diagnostic genetic testing settings. Conclusion Work to establish reliability and construct validity is underway. C-GUIDE will be useful in comparative studies to generate policy-relevant evidence pertaining to the clinical utility of genetic testing across a range of settings.

BACKGROUND Parents are confronted with a range of direct costs and intense caregiving demands following their child's cancer diagnosis, which may potentially threaten the financial stability of the family. OBJECTIVE The aims of this study were to explore the financial impact of a new childhood cancer diagnosis on families and understand the strategies families use to manage these financial impacts. METHODS As part of the mixed-methods Childhood Cancer Cost Study, a descriptive qualitative design was conducted. Parents discussed costs and their impact in a semistructured, audio-taped interview. A qualitative content analysis was used to analyze the transcribed data. RESULTS Seventy-eight parents participated. Parents used several strategies to maintain financial stability. These strategies consisted of managing expenses, which entailed reducing living expenses and cutting unexpected cancer costs. Efforts to absorb these expenses required families to increase their debt while seeking ways to tap into available resources, including relying on their savings and leveraging their benefits and assets, increasing their paid work hours, relying on their support networks, and seeking help from philanthropy and government agencies for financial help. CONCLUSION Parents used several strategies to manage the increased out-of-pocket expenses and reduced household income. IMPLICATIONS FOR PRACTICE Our findings of the financial impact of cancer costs on families provide insight into needed practice and policy changes aimed at lessening the economic impact of a childhood cancer diagnosis on the family and allow healthcare professionals and researchers to pursue more in-depth cost assessments in the future.

Background Inadequate and poor quality outcome reporting in clinical trials is a well-documented problem that impedes the ability of researchers to evaluate, replicate, synthesize, and build upon study findings and impacts evidence-based decision-making by patients, clinicians, and policy-makers. To facilitate harmonized and transparent reporting of outcomes in trial protocols and published reports, the Instrument for reporting Planned Endpoints in Clinical Trials (InsPECT) is being developed. The final product will provide unique InsPECT extensions to the SPIRIT (Standard Protocol Items: Recommendations for Interventional Trials) and CONSORT (Consolidated Standards of Reporting Trials) reporting guidelines. Methods The InsPECT SPIRIT and CONSORT extensions will be developed in accordance with the methodological framework created by the EQUATOR (Enhancing the Quality and Transparency of Health Research Quality) Network for reporting guideline development. Development will consist of (1) the creation of an initial list of candidate outcome reporting items synthesized from expert consultations and a scoping review of existing guidance for reporting outcomes in trial protocols and reports; (2) a three-round international Delphi study to identify additional candidate items and assess candidate item importance on a 9-point Likert scale, completed by stakeholders such as trial report and protocol authors, systematic review authors, biostatisticians and epidemiologists, reporting guideline developers, clinicians, journal editors, and research ethics board representatives; and (3) an in-person expert consensus meeting to finalize the set of essential outcome reporting items for trial protocols and reports, respectively. The consensus meeting discussions will be independently facilitated and informed by the empirical evidence identified in the primary literature and through the opinions (aggregate rankings and comments) collected via the Delphi study. An integrated knowledge translation approach will be used throughout InsPECT development to facilitate implementation and dissemination, in addition to standard post-development activities. Discussion InsPECT will provide evidence-informed and consensus-based standards focused on outcome reporting in clinical trials that can be applied across diverse disease areas, study populations, and outcomes. InsPECT will support the standardization of trial outcome reporting, which will maximize trial usability, reduce bias, foster trial replication, improve trial design and execution, and ultimately reduce research waste and help improve patient outcomes. Electronic supplementary material The online version of this article (10.1186/s13063-019-3248-0) contains supplementary material, which is available to authorized users.

Background While mental health disorders are common in the postpartum period, the mental health of parents of infants in the neonatal intensive care unit (NICU) may be further compromised. Previous research demonstrates that up to 40% of NICU parents exhibit elevated levels of depression and anxiety, and endorse trauma symptoms shortly after their baby’s birth. Objectives To describe the parental and infant characteristics and costs associated with MHS use in parents of infants recently discharged from seven Canadian level III NICUs. Design/Methods The study was nested in an ongoing clinical trial of parents of high-risk infants across seven Canadian level III NICUs. Parent and infant characteristics were obtained at enrollment and summarized. Information pertaining to MHS use was obtained from the Resource Use Questionnaire administered to parents at 4 months post-enrollment (RUQ-4m). A pricing table allocating standard costs for services was created to estimate MHS costs for the services reported across the follow-up interval. Results A total of n=213 families completed the RUQ-4m. Of these, 33 individual parents (8%; n=25 female, n=8 male) across 28 families (13%) used MHS following infant discharge from the NICU. Therapy, including psychotherapy and social work, was the most utilized service (46%), followed by psychology (24%) and psychiatry (12%). Using the pricing table to estimate costs, an average of $541 per month was spent on MHS per family. Of these costs, 34% were paid directly by a government program, while 31% were paid at least in part out-of-pocket. Three-quarters (72%) of MHS users were born in Canada compared to 47% of non-users, 72% were on a leave from work compared to 59% of non-users, and 79% were first-time parents compared to 62% of non-users. The average length of hospital admission for infants of MHS users was 100 days compared to 143 days for non-MHS users. Finally, 20% of MHS users reported past or current depression compared to 8% of non-users. Conclusion We found that just over one-tenth of families used MHS post-discharge, that those who used MHS primarily used therapy, and that mental health services cost an estimated $540 per family per month. This is the first pan-Canadian study to describe MHS utilization and cost amongst parents post-NICU discharge. Given the high rates of mental health conditions in this population, the rates of MHS use reported were lower than expected. This preliminary data may represent those who were able to access care, rather than all participants who may have required MHS.

IntroductionHaving an infant admitted to the neonatal intensive care unit (NICU) is associated with increased parental stress, anxiety and depression. Enhanced support for parents may decrease parental stress and improve subsequent parent and child outcomes. The Coached, Coordinated, Enhanced Neonatal Transition (CCENT) programme is a novel bundled intervention of psychosocial support delivered by a nurse navigator that includes Acceptance and Commitment Therapy-based coaching, care coordination and anticipatory education for parents of high-risk infants in the NICU through the first year at home. The primary objective is to evaluate the impact of the intervention on parent stress at 12 months.Methods and analysisThis is a multicentre pragmatic randomised controlled superiority trial with 1:1 allocation to the CCENT model versus control (standard neonatal follow-up). Parents of high-risk infants (n=236) will be recruited from seven NICUs across three Canadian provinces. Intervention participants are assigned a nurse navigator who will provide the intervention for 12 months. Outcomes are measured at baseline, 6 weeks, 4, 12 and 18 months. The primary outcome measure is the total score of the Parenting Stress Index Fourth Edition Short Form at 12 months. Secondary outcomes include parental mental health, empowerment and health-related quality of life for calculation of quality-adjusted life years (QALYs). A cost-effectiveness analysis will examine the incremental cost of CCENT versus usual care per QALY gained. Qualitative interviews will explore parent and healthcare provider experiences with the intervention.Ethics and disseminationResearch ethics approval was obtained from Clinical Trials Ontario, Children’s Hospital of Eastern Ontario Research Ethics Board (REB), The Hospital for Sick Children REB, UBC Children’s and Women’s REB and McGill University Health Centre REB. Results will be shared with Canadian level III NICUs, neonatal follow-up programmes and academic forums.Trial registration numberClinicalTrials.gov Registry (NCT03350243).

Demonstrating the clinical utility of genetic testing is fundamental to clinical adoption and reimbursement, but standardized definitions and measurement strategies for this construct do not exist. The Clinician-reported Genetic testing Utility InDEx (C-GUIDE) offers a novel measure to fill this gap. This study assessed its validity and inter-rater reliability.Genetics professionals completed C-GUIDE after disclosure of test results to patients. Construct validity was assessed using regression analysis to measure associations between C-GUIDE and global item scores as well as potentially explanatory variables. Inter-rater reliability was assessed by administering a vignette-based survey to genetics professionals and calculating Krippendorff's α.On average, a 1-point increase in the global item score was associated with an increase of 3.0 in the C-GUIDE score (P.001). Compared with diagnostic results, partially/potentially diagnostic and nondiagnostic results were associated with a reduction in C-GUIDE score of 9.5 (P.001) and 10.2 (P.001), respectively. Across 19 vignettes, Krippendorff's α was 0.68 (95% CI: 0.63-0.72).C-GUIDE showed acceptable validity and inter-rater reliability. Although further evaluation is required, C-GUIDE version 1.2 can be useful as a standardized approach to assess the clinical utility of genetic testing.

IntroductionYouth with brain-based disabilities (BBDs), as well as their parents/caregivers, often feel ill-prepared for the transfer from paediatric to adult healthcare services. To address this pressing issue, we developed the MyREADY TransitionTM BBD App, a patient-facing e-health intervention. The primary aim of this randomised controlled trial (RCT) was to determine whether the App will result in greater transition readiness compared with usual care for youth with BBD. Secondary aims included exploring the contextual experiences of youth using the App, as well as the interactive processes of youth, their parents/caregivers and healthcare providers around use of the intervention.Methods and analysisWe aimed to randomise 264 youth with BBD between 15 and 17 years of age, to receive existing services/usual care (control group) or to receive usual care along with the App (intervention group). Our recruitment strategy includes remote and virtual options in response to the current requirements for physical distancing due to the COVID-19 pandemic. We will use an embedded experimental model design which involves embedding a qualitative study within a RCT. The Transition Readiness Assessment Questionnaire will be administered as the primary outcome measure. Analysis of covariance will be used to compare change in the two groups on the primary outcome measure; analysis will be intention-to-treat. Interviews will be conducted with subsets of youth in the intervention group, as well as parents/caregivers and healthcare providers.Ethics and disseminationThe study has been approved by the research ethics board of each participating site in four different regions in Canada. We will leverage our patient and family partnerships to find novel dissemination strategies. Study findings will be shared with the academic and stakeholder community, including dissemination of teaching and training tools through patient associations, and patient and family advocacy groups.Trial registration numberNCT03852550.