Nudging towards COVID-19 and influenza vaccination uptake in medically at-risk children : EPIC study protocol of randomised controlled trials in Australian paediatric outpatient clinics

Introduction: Children with chronic medical diseases are at an unacceptable risk of hospitalisation and death from influenza and SARS-CoV-2 infections. Over the past two decades, behavioural scientists have learnt how to design non-coercive ‘nudge’ interventions to encourage positive health behaviours. Our study aims to evaluate the impact of multicomponent nudge interventions on the uptake of COVID-19 and influenza vaccines in medically at-risk children. Methods and analyses: Two separate randomised controlled trials (RCTs), each with 1038 children, will enrol a total of approximately 2076 children with chronic medical conditions who are attending tertiary hospitals in South Australia, Western Australia and Victoria. Participants will be randomly assigned (1:1) to the standard care or intervention group. The nudge intervention in each RCT will consist of three text message reminders with four behavioural nudges including (1) social norm messages, (2) different messengers through links to short educational videos from a paediatrician, medically at-risk child and parent and nurse, (3) a pledge to have their child or themselves vaccinated and (4) information salience through links to the current guidelines and vaccine safety information. The primary outcome is the proportion of medically at-risk children who receive at least one dose of vaccine within 3 months of randomisation. Logistic regression analysis will be performed to determine the effect of the intervention on the probability of vaccination uptake. Ethics and dissemination: The protocol and study documents have been reviewed and approved by the Women’s and Children’s Health Network Human Research Ethics Committee (HREC/22/WCHN/2022/00082). The results will be published via peer-reviewed journals and presented at scientific meetings and public forums. Trial registration number: NCT05613751

Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic

Autism is an etiologically heterogeneous developmental disorder for which the range of genetic investigations has expanded considerably over the past decade. Introduction of chromosomal microarray (CMA) to clinical practice has expanded the range of conditions which pediatricians are able to detect. This study reviewed the utilization, yield and cost of genetic investigations in a sample of children with pervasive developmental disorders (PDD) in an Australian metropolitan child development service. Six hundred and ninety eight patients with PDD were identified from the clinic population. One hundred and ten (15.7%) of the clinic population had undergone investigation with chromosomal microarray, 140 (20.0%) with karyotype (KT), and 167 (23.9%) with Fragile X testing (FRGX). Twelve (10.9%) CMA findings were reported, of which seven (6.3%) were felt to be the likely cause of the child’s clinical features. Five (3.5%) KT findings were reported, of which four (2.9%) were felt to be the likely cause of the child’s clinical features. Two patients (1.2%) were identified with Fragile X expansions. One fifth of the clinic’s recent PDD population had undergone testing with CMA. CMA appears to have increased the diagnostic yield of the genetic investigation of autism, in line with internationally reported levels. Number needed to test (NNT) and cost per incremental diagnosis, were also in line with internationally reported levels

Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic

Autism is an etiologically heterogeneous developmental disorder for which the range of genetic investigations has expanded considerably over the past decade. Introduction of chromosomal microarray (CMA) to clinical practice has expanded the range of conditions which pediatricians are able to detect. This study reviewed the utilization, yield and cost of genetic investigations in a sample of children with pervasive developmental disorders (PDD) in an Australian metropolitan child development service. Six hundred and ninety eight patients with PDD were identified from the clinic population. One hundred and ten (15.7%) of the clinic population had undergone investigation with chromosomal microarray, 140 (20.0%) with karyotype (KT), and 167 (23.9%) with Fragile X testing (FRGX). Twelve (10.9%) CMA findings were reported, of which seven (6.3%) were felt to be the likely cause of the child's clinical features. Five (3.5%) KT findings were reported, of which four (2.9%) were felt to be the likely cause of the child's clinical features. Two patients (1.2%) were identified with Fragile X expansions. One fifth of the clinic's recent PDD population had undergone testing with CMA. CMA appears to have increased the diagnostic yield of the genetic investigation of autism, in line with internationally reported levels. Number needed to test (NNT) and cost per incremental diagnosis, were also in line with internationally reported\ua0levels

Factors associated with modern contraceptives uptake during the first year after birth in Ethiopia: A systematic review and meta-analysis

Though postpartum family planning helps women to achieve the recommended birth interval before next pregnancy, its utilization in Ethiopia is low. Understanding drivers and barriers is key to improve postpartum family planning uptake. The aim of this systematic review and meta-analysis is to analyze and summarize predictors of postpartum family planning uptake, during the first year after birth, in Ethiopia. We conducted a systematic review and meta-analysis of observational studies published in English before April 16, 2021. We searched electronic sources like PubMed, MEDLINE, CINHAL Embase, Google and supplemented it with manual search. Two reviewers appraised independently the studies using the Joanna Briggs Institute Quality Assessment Tool for the observational studies. Data synthesis and analysis were conducted using Review Manager Version 5.3. The Cochrane Q test statistic and I2 tests were used to assess the heterogeneity among the included studies. A random-effects and fixed effect model were used to calculate pooled Odds Ratio and its 95% CI. A total of 22 studies were included in the review. Better educational status of women[OR = 2.60; 95% CI: 2.15, 3.14], women's marital status [OR = 4.70; 95% CI: 1.51, 14.60], resumption of sexual intercourse [OR = 6.22; 95% CI: 3.01, 12.86], menses return [OR = 3.72; 95% CI: 1.98, 6.99], PPFP discussion with partner [OR = 2.53; 95% CI: 2.00, 3.20], women's previous PPFP information [OR = 4.93; 95% CI: 2.26, 10.76], PPFP counseling during ANC [OR = 3.95; 95% CI: 2.50, 6.23], having PNC [OR = 4.22; 95% CI: 2.80, 6.34], having experience of modern contraceptive use [OR = 2.90; 95% CI: 1.62, 5.19], facility birth [OR = 6.70; 95% CI: 3.15, 14.25], and longer interval after last delivery [OR = 0.37; 95% CI: 0.32, 0.43] were significantly associated with modern contraceptive uptake during postpartum period. Our systematic review identified modifiable factors and estimated their association with PPFP uptake. Since most of these factors are related to reproductive health characteristics and MNCH services, integrating PPFP into MNCH services particularly at primary health care unit may improve contraceptive uptake during postpartum period. Systematic review registration: PROSPERO: 2020: CRD42020159470

See How They Grow: Testing the feasibility of a mobile app to support parents' understanding of child growth charts.

BackgroundMobile devices provide new opportunities for the prevention of overweight and obesity in children. We aimed to co-create and test an app that offered comprehensible feedback to parents on their child's growth and delivered a suite of age-specific information about nutrition and activity.MethodsA two-phased approach was used to co-create the digital growth tool-See How They Grow-and test its feasibility. Phase one used focus groups (parents and professionals such as paediatricians and midwives) and a national on-line survey to gather requirements and build the app. Phase two involved testing the app over 12-weeks, with parents or carers of children aged ≤ 2-years. All research activities were undertaken exclusively through the app, and participants were recruited using social media and hard copy materials given to patents at a child health visit.FindingsFour focus groups and 101 responses to the national survey informed the features and functions to include in the final app. Two hundred and twenty-five participants downloaded the app, resulting in 208 eligible participants. Non-Māori/Non-Pacific (78%) and Māori (14%) had the highest downloads. Fifty-four per cent of participants were parents of children under 6-months. These participants were more likely to regularly use the app than those with children older than 6-months (64% vs 36%, P = 0.011). Over half of the participants entered three measures (n = 101, 48%). Of those that completed the follow-up survey (n = 101, 48%), 72 reported that the app helped them better understand how to interpret growth charts.ConclusionThe app was acceptable and with minor modifications, has the potential to be an effective tool to support parents understanding of growth trajectories for their children. A larger trial is needed to evaluate if the app can have a measurable impact on increasing knowledge and behaviour, and therefore on preventing childhood overweight and obesity

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a selected cohort of children with cancer. Experimental Design: To identify mutations in known and novel cancer-predisposing genes, we performed trio-based whole-exome sequencing on germline DNA of 40 selected children and their parents. These children were diagnosed with cancer and had at least one of the following features: (1) intellectual disability and/or congenital anomalies, (2) multiple malignancies, (3) family history of cancer, or (4) an adult type of cancer. We first analyzed the sequence data for germline mutations in 146 known cancer-predisposing genes. If no causative mutation was found, the analysis was extended to Results: Four patients carried causative mutations in a known cancer-predisposing gene: TP53 and DICER1 (n ¼ 3). In another 4 patients, exome sequencing revealed mutations causing syndromes that might have contributed to the malignancy (EP300-based Rubinstein–Taybi syndrome, ARID1A-based Coffin–Siris syndrome, ACTB-based Baraitser–Winter syndrome, and EZH2-based Weaver syndrome). In addition, we identified two genes, KDM3B and TYK2, which are possibly involved in genetic cancer predisposition. Conclusions: In our selected cohort of patients, pathogenic germline mutations causative or likely causative of the cancer phenotype were found in 8 patients, and two possible novel cancer-predisposing genes were identified. Therewith, our study shows the added value of sequencing beyond a cancer gene panel in selected patients, to recognize childhood cancer predisposition

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a selected cohort of children with cancer. Experimental Design: To identify mutations in known and novel cancer-predisposing genes, we performed trio-based whole-exome sequencing on germline DNA of 40 selected children and their parents. These children were diagnosed with cancer and had at least one of the following features: (1) intellectual disability and/or congenital anomalies, (2) multiple malignancies, (3) family history of cancer, or (4) an adult type of cancer. We first analyzed the sequence data for germline mutations in 146 known cancer-predisposing genes. If no causative mutation was found, the analysis was extended to Results: Four patients carried causative mutations in a known cancer-predisposing gene: TP53 and DICER1 (n ¼ 3). In another 4 patients, exome sequencing revealed mutations causing syndromes that might have contributed to the malignancy (EP300-based Rubinstein–Taybi syndrome, ARID1A-based Coffin–Siris syndrome, ACTB-based Baraitser–Winter syndrome, and EZH2-based Weaver syndrome). In addition, we identified two genes, KDM3B and TYK2, which are possibly involved in genetic cancer predisposition. Conclusions: In our selected cohort of patients, pathogenic germline mutations causative or likely causative of the cancer phenotype were found in 8 patients, and two possible novel cancer-predisposing genes were identified. Therewith, our study shows the added value of sequencing beyond a cancer gene panel in selected patients, to recognize childhood cancer predisposition