Explanipedia

Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement Open

Sarah Lawrence, Janet Marcadier, Sergio Auger, Erika Bariciak, Pranesh Chakraborty , et al. · 2025

Purpose Newborn screening for 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) has a high false-positive rate. A second-tier steroid profile using liquid chromatography mass spectrometry can improve specificity. Multiple scre…

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years Open

Kristin D. Kernohan, Lauren Gallagher, Marie Pigeon, Ed Yeh, Melanie Lacaria , et al. · 2025

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study Open

Nataliya Yuskiv, Ammar Saad, Beth K. Potter, Sylvia Stöckler‐Ipsiroglu, John J. Mitchell , et al. · 2025

Achieving and maintaining metabolic control is critical for children with phenylalanine hydroxylase (PAH) deficiency. This retrospective longitudinal cohort study investigated metabolic control and monitoring frequency of children with PAH…

A cost-utility analysis of newborn screening for spinal muscular atrophy in Canada Open

Alex Pace, Weston Roda, Corrina Poon, Hugh J. McMillan, Maryam Oskoui , et al. · 2025

Background Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by the loss of the SMN1 gene, with an estimated birth prevalence of about 1 in 10,000. Early intervention with disease-modifying therapies (DMTs) significantly imp…

Systematic review for economic evaluations on newborn screening for spinal muscular atrophy Open

Amy Pace, Corrina Poon, Pranesh Chakraborty, Maryam Oskoui, Hugh J. McMillan , et al. · 2025

Objective Evaluate the quality and cost-effectiveness of economic evaluations of newborn screening (NBS) for Spinal Muscular Atrophy (SMA). Methods A systematic review was conducted following Cochrane Handbook guidelines and PRISMA-S check…

Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement Open

Alison H. Howie, Kylie Tingley, Michal Inbar‐Feigenberg, John J. Mitchell, Kim Angel , et al. · 2024

Background To inform the development of a core outcome set (COS) for children and youth with mucopolysaccharidoses (MPS), we aimed to identify all outcomes and associated outcome measurement instruments that are reported in recent clinical…

Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group Open

Christine M. Pak, Marian J. Gilmore, Joanna E. Bulkley, Pranesh Chakraborty, Orit Dagan‐Rosenfeld , et al. · 2024

CJN volume 51 issue 2 Cover and Front matter Open

Tejas Sankar, S. Tucker, Mimma Anello, Aleksandra Pikula, Esther Bui , et al. · 2024

Family‐centred care interventions for children with chronic conditions: A scoping review Open

Andrea Chow, Ammar Saad, Zobaida Al‐Baldawi, Ryan Iverson, Becky Skidmore , et al. · 2024

Introduction Children with chronic conditions have greater health care needs than the general paediatric population but may not receive care that centres their needs and preferences as identified by their families. Clinicians and researche…

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency Open

Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese, Kylie Tingley , et al. · 2024

Background Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogena…

P547: The clinician-reported Genetic testing Utility InDEX (C-GUIDE): Establishing content validity for a new measure for sequencing-based newborn screening Open

Stephanie Luca, Katharine Fooks, Elise Poole, Amanda Pichini, Joanna Ziff , et al. · 2024

Genome sequencing (GS) is emerging as the most robust strategy for achieving timely diagnoses in undiagnosed rare disease populations. However, evidence of utility is required for policy and funding decision-making. To support evidence gen…

P480: Parent and healthcare personnel perspectives on challenges to family-centered care for children with inherited metabolic diseases: A qualitative analysis Open

Andrea Chow, Guylaine D’Amours, Isabel Jordán, Nicole Pallone, Maureen Smith , et al. · 2024

Family-centered care is a concept that engages children and families as integral members of health care teams and is a marker of high-quality health care systems. There is limited evidence about the specific aspects of positive or negative…

P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum Open

Melanie Lacaria, Matthew Henderson, Ed Yeh, Sara Fernández, Kelsey Kalbfleisch , et al. · 2024

Mucopolysaccharidosis type 1, or Hurler syndrome (MPS1-H), is a rare lysosomal storage disorder caused by alpha-L-iduronidase enzyme deficiency due to biallelic pathogenic variants in the IDUA gene. MPS1-H is characterized by coarse facies…

Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects Open

Akos Herzeg, Beltran Borges, Billie R. Lianoglou, Juan Gonzalez‐Velez, Emma Canepa , et al. · 2023

Lysosomal storage disorders (LSDs) are a group of monogenic condition, with many characterized by an enzyme deficiency leading to the accumulation of an undegraded substrate within the lysosomes. For those LSDs, postnatal enzyme replacemen…

Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment Open

Elisa Nigro, Eyal Grunebaum, Binita M. Kamath, Christoph Licht, Caroline Malcolmson , et al. · 2023

Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy. With the rise of novel therapies and early diagnosis on newborn screening (NBS)…

The mitochondrial tRNA MT‐TW m.5537_5538insT variant presents with significant intra‐familial clinical variability Open

Lauren Strasser, Asif Doja, Jorge Dávila, Pranesh Chakraborty, Danielle K. Bourque · 2023

Mitochondrial disorders can present with a wide range of clinical and biochemical phenotypes. Mitochondrial DNA variants may be influenced by factors such as degree of heteroplasmy and tissue distribution. We present a four‐generation fami…

Parental Preferences for Expanded Newborn Screening: What Are the Limits? Open

Nicole Si Yan Liang, Abby Watts-Dickens, David Chitayat, Riyana Babul‐Hirji, Pranesh Chakraborty , et al. · 2023

The use of next-generation sequencing technologies such as genomic sequencing in newborn screening (NBS) could enable the detection of a broader range of conditions. We explored parental preferences and attitudes towards screening for cond…

Estimating the Incidence of First RSV Hospitalization in Children Born in Ontario, Canada Open

Sarah A. Buchan, Hannah Chung, Teresa To, Nick Daneman, Astrid Guttmann , et al. · 2023

Background Respiratory syncytial virus (RSV) contributes significantly to morbidity in children, placing substantial burdens on health systems, thus RSV vaccine development and program implementation are a public health priority. More data…

TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins Open

Thet Fatica, Thierry Naas, Urszula Liwak, Hannah Slaa, Maryam Souaid , et al. · 2023

Mitochondrial diseases are a group of heterogeneous disorders caused by dysfunctional mitochondria. Interestingly, a large proportion of mitochondrial diseases are caused by defects in genes associated with tRNA metabolism. We recently dis…

Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay Open

Elizabeth Reynolds, Sheresa Blanchard, Elizabeth Jalazo, Pranesh Chakraborty, Donald B. Bailey · 2023

Objectives: The purpose of this study is to explore which newborn screening (NBS) conditions are automatically eligible for early intervention (EI) across states and to determine the extent to which each disorder should automatically quali…

Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health research Open

Shelley Vanderhout, Beth K. Potter, Maureen Smith, Nancy J. Butcher, Jordan Vaters , et al. · 2023

Purpose The collection and use of patient reported outcomes (PROs) in care-based child health research raises challenging ethical and logistical questions. This paper offers an analysis of two questions related to PROs in child health rese…

Variability in Newborn Screening Across Canada: Spinal Muscular Atrophy and Beyond Open

Émilie Groulx‐Boivin, Homira Osman, Pranesh Chakraborty, Stacey Lintern, Maryam Oskoui , et al. · 2023

Background: Newborn screening (NBS) identifies infants with severe, early-onset diseases, enabling early diagnosis and treatment. In Canada, decisions regarding disease inclusion in NBS programs occur at the provincial level, which leads t…

Real world external validation of metabolic gestational age assessment in Kenya Open

Steven Hawken, Victoria Ward, A. Brianne Bota, Monica Lamoureux, Robin Ducharme , et al. · 2022

Using data from Ontario Canada, we previously developed machine learning-based algorithms incorporating newborn screening metabolites to estimate gestational age (GA). The objective of this study was to evaluate the use of these algorithms…

Validation of gestational age determination from ultrasound or a metabolic gestational age algorithm using exact date of conception in a cohort of newborns conceived using assisted reproduction technologies Open

Steven Hawken, Brieanne Olibris, Robin Ducharme, A. Brianne Bota, Jeffrey C. Murray , et al. · 2022

Unlocking the global health potential of dried blood spot cards Open

Brianne Bota, Victoria Ward, Monica Lamoureux, Emeril Santander, Robin Ducharme , et al. · 2022

A key challenge to providing care for newborn infants in low- and middle-income countries (LMICs) is the lack of timely diagnostic testing due to weak local infrastructures such as laboratory capacity and imaging technologies. To address t…

Assessment of SARS-CoV-2 Seropositivity During the First and Second Viral Waves in 2020 and 2021 Among Canadian Adults Open

Xuyang Tang, Abha Sharma, Maria Pasic, Patrick Brown, Karen Colwill , et al. · 2022

The Action to Beat Coronavirus study found that the incidence of SARS-CoV-2 infection in Canada was modest until March 2021, and this incidence was lower than the levels of population immunity required to substantially reduce transmission …

Cross-sectional prospective feasibility study of newborn screening for sickle cell anaemia and congenital hypothyroidism in Guyana Open

Bibi Alladin, Pheona Mohamed-Rambaran, Vijay L. Grey, Andrea Hunter, Pranesh Chakraborty , et al. · 2022

Introduction Newborn screening (NBS) is a test done shortly after birth to detect conditions that cause severe health problems if not treated early. An estimated 71% of babies worldwide are born in jurisdictions that do not have an establi…

Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study Open

Andrea Chow, Ryan Iverson, Monica Lamoureux, Kylie Tingley, Isabel Jordán , et al. · 2022

Introduction Children with inherited metabolic diseases (IMDs) often have complex and intensive healthcare needs and their families face challenges in receiving high-quality, family centred health services. Improvement in care requires com…

Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys Open

Alison H. Howie, Kylie Tingley, Michal Inbar‐Feigenberg, John J. Mitchell, Nancy J. Butcher , et al. · 2021

Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys Open

Alison H. Howie, Kylie Tingley, Michal Inbar‐Feigenberg, John J. Mitchell, Nancy J. Butcher , et al. · 2021

Background Mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases characterized by chronic, progressive multi-system manifestations with varying degrees of severity. Disease-modifying therapies exist to treat some types of…

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