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Background Children born very preterm are at increased risk of neurodevelopmental impairment (NDI). NDI rates are used to make critical healthcare decisions. The Canadian Neonatal Follow-Up Network (CNFUN) defines severe NDI at age 18–24 months as Bayley-III Cognitive, Motor or Language composite scores Objectives To evaluate stakeholder perspective of severity of disability and ranking of different health conditions all defined as severe by CNFUN using clinical vignettes. Design/Methods Ten clinical vignettes describing 18 month old children with combinations of single and multiple impairments based on the CNFUN definition of severe NDI and one clinical vignette describing a child without NDI (control) were co-developed by clinicians and parents. The survey of 11 vignettes was distributed to: (1) British Columbian parents of very preterm children during follow-up clinic visits; and (2) Canadian and international parents, families, individuals with lived experience with prematurity and/or NDI and their social networks using a snowball sampling technique. Participants rated the severity of each vignette on a scale from 0 (worst possible health) to 10 (best possible health) and answered if they perceived the vignette to represent a severe disability. Results were analyzed descriptively and mean differences from the control were compared using a linear mixed effects model. Results 827 participants and 4553 vignettes were completed with no significant difference by population sampled. Participants classified the clinical vignettes as describing a severe condition ranging from 5% for the cognitive delay vignette to 55% for the cerebral palsy and language delay vignette. Mean difference in rank compared to control is shown in Figure 1. Only the ranking of the latter vignette was significantly different from the control. Conclusion Most key stakeholders do not perceive clinical vignettes describing CNFUN definitions of severe NDI as truly severe. Components of severe NDI rank differently but only the cerebral palsy and language delay vignette varies significantly. Current CNFUN definitions of severe NDI need to be revised.

OBJECTIVES: To assess paediatricians’ use of genetic testing for children with global developmental delay (GDD). STUDY DESIGN: We developed and piloted a questionnaire assessing the use of genetic tests in children with GDD and awareness of relevant guidelines. All practicing Quebec paediatricians were contacted. Paediatricians who did not evaluate children with GDD in their practice were excluded. Descriptive and statistical analyses were performed with SPSS. RESULTS: Of the 651 paediatricians, 225 answered (34.5%) and 141 were eligible. Only 31.9% were familiar with at least one guideline about genetic tests for the investigation of children with GDD, but 93.6% had ordered genetic testing for children with GDD (Fragile X testing [92.9%], karyotype [87.2%] and chromosomal microarray [63.8%]). Based on vignettes, 20.6% of participants would order genetic tests for isolated GDD and 95.0% for GDD with dysmorphic features and microcephaly. Only 56.7% ordered Fragile X testing for a girl with GDD and a known family history of Fragile X syndrome. Use of tests for isolated GDD was increased in presence of maternal pregnancy, compared with absence of pregnancy (44.7% and 27.7%, respectively). More participants would order genetic tests for a child with GDD and fetal exposure to alcohol (69.5%) than isolated GDD (20.6%). CONCLUSIONS: Even though paediatricians often order genetic testing for children with GDD, practices and knowledge regarding testing are not optimal. As new and more complex genetic tests are developed, up-to-date training about the use of genetic tests for children with GDD needs to be integrated into paediatrics residency programs and continuous medical education.

Background Extremely preterm birth is associated with death and a higher risk of adverse long-term outcomes. Neurodevelopmental impairment (NDI) has become the focus of neonatal follow-up and outcome research, with classifications chosen by clinicians and researchers. However, parents were never consulted about this classification. Objectives To examine parental perspectives about the health of their ex-preterm infants. Design/Methods Over a one-year period, at Sainte-Justine University Hospital’s Neonatal Follow-Up Clinic, all parents of children born Results 249 parental responses were obtained (98% participation rate). On average, parents rated their child’s health to be 8/10 (range 3-10/10, median 8/10). Main themes invoked about areas for improvement were developmental outcomes (65%):“if he could talk and hold his head up himself”; respiratory heath and overall medical fragility (35%): “improve the health of her lungs”; and behavior/emotional issues (21%): “his anxiety”. Twenty-three percent did not wish to improve anything: “I am very happy with his health and development. I hope he continues on the same path.” When examining developmental outcomes more closely, the recurrent sub-themes for improvement were: language/communication (22%), motor/movement (17%) and cognitive/learning (16%): “improving her attention in school”. Conclusion When they come to neonatal follow-up, parents generally perceive the health of their extremely preterm children in a positive way. While some parents have no wishes for improvement in their children, many are concerned by their children’s NDI. On the other hand, several parent-important outcomes, such as lung health and overall medical fragility, are insufficiently investigated during follow-up at the present time.

Background Long bone fractures are a frequent reason for visits to the pediatric emergency department (ED) where patients obtain the definitive care they require. Youth are rarely involved in quality assessment and improvement initiatives. Objectives To describe parent and youth experiences of their ED care for suspected long bone fractures. Design/Methods This prospective survey study of parents/youth consulting a tertiary care pediatric ED used surveys co-constructed by ED clinicians and parent partners. English/French speaking patients aged 10 to 18 years old with suspected long-bone fracture at triage – and their parents – were eligible to complete the survey during their ED stay. Electronic surveys were developed for parents and youth and pre-tested with 12 youth and 14 parents. Descriptive data was generated using SPSS v.25 (IBM Inc.). Results Three hundred surveys were distributed to eligible participants from March 2018 to June 2019 and 249 surveys were completed (148 parents, 101 youth). At least one member from 189 families completed a survey. Parents and youth participants had median ages of 44 and 12 years old, respectively. Most patients (98%) had a radiograph as part of their work-up, usually in the ED (76%); Twenty-seven percent were referred with radiographs. Most families (61%) received a diagnosis of long-bone fracture and were referred to orthopaedics for outpatient follow-up. Families’ median length of stay was 4h08min (range 43 min-14h30min). Parents (88mm) and youth (81mm) reported high median satisfaction with their overall ED care on 100 mm visual analog scales. Most parents (81%) and youth (75%) reported receiving just enough information from ED staff, though only half (50%) of the parents received information on how to care for their child at home. More than 90% of parents believed that the ED team treated their child’s pain. Eighty-one percent of youth reported that pain was treated sufficiently although 63% believed it had been treated quickly. Most parents (56%) and youth (72%) reported their ED stay was longer than anticipated; parents’ perceptions did not correlate with ED length of stay on logistic regression (p=0.014), while youth’s did (p=0.009). Few parents (33%) or youth (32%) reported receiving regular information on ED wait times. Conclusion Parent and youth perspectives of their ED care are complementary, and both should be considered in patient-oriented quality improvement initiatives.

Health care professionals (HCPs) may be involved in counselling women after an antenatal diagnosis of various fetal anomalies. Many pregnant women consider termination of pregnancy (TOP) after antenatal diagnosis of various fetal anomalies. Little is known, however, about the attitudes of HCPs regarding TOP for specific antenatal diagnoses.To determine the attitudes and opinions of HCPs in maternal and child health regarding TOP for fetal anomalies of varying severity.AN ANONYMOUS QUESTIONNAIRE WAS DISTRIBUTED TO FOUR GROUPS OF HCPS: obstetric residents; paediatric residents; delivery room nurses; and neonatal intensive care nurses. Respondents were asked about TOP if they or their spouse were to receive an antenatal diagnosis for five prenatally diagnosed conditions: trisomy 21; trisomy 18; cleft lip and palate; Turner syndrome; and hypoplastic left heart syndrome.Two hundred eighty HCPs answered the questionnaire (90% response rate). Ten per cent of respondents would not consider TOP under any of the circumstances described. Among those who would consider TOP, they were most likely to do so for trisomy 18 and least likely for cleft lip and palate, and fairly evenly divided among the remaining three conditions (hypoplastic left heart syndrome [65%], trisomy 21 [56%] and Turner syndrome [37%]). Paediatric residents were less likely to choose TOP than other groups and obstetrics residents were most likely.Attitudes of HCPs toward TOP vary according to prenatally identified condition and professional group. More rigorous analysis should be performed regarding the process of counselling and the impact of HCPs beliefs on parental decisions.Les professionnels de la santé (PS) peuvent conseiller les femmes après un diagnostic anténatal de diverses anomalies fœtales. De nombreuses femmes enceintes envisagent une interruption de grossesse (IdG) après un tel diagnostic. Cependant, on ne sait pas grand-chose des attitudes des PS au sujet des IdG suscitées par des diagnostics anténatals précis.Déterminer les attitudes et les opinions de PS qui s’occupent des soins mère-enfant au sujet des IdG suscitées par des anomalies fœtales de diverses gravités.Les chercheurs ont distribué un questionnaire anonyme à quatre groupes de professionnels de la santé : résidents en obstétrique, résidents en pédiatrie, infirmières en salle d’accouchement et infirmières en soins intensifs néonatals. Ils ont demandé aux répondants s’ils opteraient pour une IdG après qu’eux ou leur conjointe eût reçu un diagnostic anténatal de l’une des cinq pathologies suivantes : trisomie 21, trisomie 18, fissure labiopalatine, syndrome de Turner et hypoplasie du cœur gauche.Deux cent quatre-vingts PS ont répondu au questionnaire (taux de réponse de 90 %). Dix pour cent des répondants n’envisageraient une IdG dans aucune des situations décrites. Les autres étaient plus susceptibles d’y avoir recours en cas de trisomie 18, mais moins en cas de fissure labiopalatine, et ils se répartissaient plutôt également entre les trois autres pathologies (hypoplasie du cœur gauche, 65 %, trisomie 21, 56 %, et syndrome de Turner, 37 %). Les résidents en pédiatrie étaient moins susceptibles d’opter pour les IdG que les autres groupes. Les résidents en obstétrique étaient les plus susceptibles de faire ce choix.Les attitudes des PS envers l’IdG varient selon la pathologie diagnostiquée pendant la période prénatale et selon le groupe professionnel. Il faudrait effectuer une analyse plus rigoureuse du processus de conseils et des répercussions des convictions des PS sur les décisions parentales.