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Article ; Online: Maximizing Benefits and Minimizing Harms: Diagnostic Uncertainty Arising From Newborn Screening.

Chakraborty, Pranesh / Potter, Beth K / Hayeems, Robin Z

2021 Volume 148, Issue 6

MeSH term(s)	Humans ; Infant, Newborn ; Neonatal Screening ; Uncertainty
Language	English
Publishing date	2021-11-11
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	207677-9
ISSN	1098-4275 ; 0031-4005
ISSN (online)	1098-4275
ISSN	0031-4005
DOI	10.1542/peds.2021-052822
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Article ; Online: The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.

Strasser, Lauren / Doja, Asif / Davila, Jorge / Chakraborty, Pranesh / Bourque, Danielle K

American journal of medical genetics. Part A

2023 Volume 191, Issue 12, Page(s) 2890–2897

Abstract: 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 family in which 10 ... ...

Abstract	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 family in which 10 individuals carry a pathogenic mitochondrial variant (m.5537_5538insT, MT-TW gene) with differing levels of heteroplasmy and clinical features. This genetic variant has been documented in two prior reports, both in individuals with Leigh syndrome. In the current family, three individuals have severe mitochondrial symptoms including Leigh syndrome (patient 1, 100% in blood), MELAS (patient 2, 97% heteroplasmy in muscle), and MELAS-like syndrome (patient 3, 50% heteroplasmy in blood and 100% in urine). Two individuals have mild mitochondrial symptoms (patient 4, 50% in blood and 67% in urine and patient 5, 50% heteroplasmy in blood and 30% in urine). We observe that this variant is associated with multiple mitochondrial presentations and phenotypes, including MELAS syndrome for which this variant has not previously been reported. We also demonstrate that the level of heteroplasmy of the mitochondrial DNA variant correlates with the severity of clinical presentation; however, not with the specific mitochondrial syndrome.
MeSH term(s)	Humans ; MELAS Syndrome/diagnosis ; MELAS Syndrome/genetics ; MELAS Syndrome/complications ; Leigh Disease/diagnosis ; Leigh Disease/genetics ; Leigh Disease/complications ; Mitochondria/genetics ; DNA, Mitochondrial/genetics ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/complications
Chemical Substances	DNA, Mitochondrial
Language	English
Publishing date	2023-08-31
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63378
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Article: Patient Engagement in a Multi-Stakeholder Workshop to Plan the Collection of Patient-Oriented Outcomes for Children with Inherited Metabolic Diseases.

Tingley, Kylie / Smith, Maureen / Pallone, Nicole / Chakraborty, Pranesh / Potter, Beth K

Healthcare quarterly (Toronto, Ont.)

2022 Volume 24, Issue SP, Page(s) 81–85

Abstract: Building on a study to develop core outcome sets for children with rare inherited metabolic diseases, the purpose of this workshop was to inform the design of longitudinal pediatric registries that support registry-based clinical trials. This workshop ... ...

Abstract	Building on a study to develop core outcome sets for children with rare inherited metabolic diseases, the purpose of this workshop was to inform the design of longitudinal pediatric registries that support registry-based clinical trials. This workshop was co-designed by two patient/family partner investigators and attended by two family advisors who received preparatory training. Patient partners and advisors recommended integrating the collection of registry data into everyday life and highlighted the importance of transparent communication and attention to the issue of integration of patient-reported data into clinical care. We propose a need to explore strategies for engaging patients in post-project knowledge translation.
MeSH term(s)	Child ; Communication ; Humans ; Metabolic Diseases ; Patient Participation ; Research Personnel
Language	English
Publishing date	2022-04-25
Publishing country	Canada
Document type	Journal Article
ISSN	1710-2774
ISSN	1710-2774
DOI	10.12927/hcq.2022.26769
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Article ; Online: Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research.

Tingley, Kylie / Coyle, Doug / Graham, Ian D / Chakraborty, Pranesh / Wilson, Kumanan / Potter, Beth K

Orphanet journal of rare diseases

2021 Volume 16, Issue 1, Page(s) 26

Abstract: Background: For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatments with uncertain clinical ... ...

Abstract	Background: For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatments with uncertain clinical effectiveness. They must also consider whether and how to contribute to clinical research that may involve receiving or providing the therapy being evaluated. Objective: To understand why and how patients and families with rare metabolic diseases, specialist metabolic physicians, and health policy advisors choose whether to participate in studies and how they use and value research. Methods: We conducted separate focus group interviews with each stakeholder group (three groups in total); two groups were conducted by telephone and the third was held in-person. Participants were recruited using purposive sampling. We analyzed each interview transcript sequentially using a qualitative description approach to inductively identify key themes. Several strategies to ensure credibility and trustworthiness were used including debriefing sessions after each focus group and having multiple team members review transcripts. Results: Four patients/caregivers, six physicians, and three policy advisors participated. Our findings did not support conventional perspectives that therapeutic misconception (gaining access to treatment) is the main motivating factor for patients/caregivers to participate in clinical research. Rather, patients'/caregivers' expressed reasons for participating in research included advancing science for the next generation and having an opportunity to share their experiences. Patients/caregivers and physicians described the difficulties in weighing risks versus benefits of accepting treatments not well-supported by evidence. Physicians also reported feeling conflicted in their dual role as patient advisor/advocate and evaluator of the evidence. Policy advisors were primarily focused on critically appraising the evidence to make recommendations for the health system. Conclusions: Stakeholders differ in their perspectives on rare disease research but share concerns about the risks versus benefits of therapies when making individual- and population-level decisions.
MeSH term(s)	Caregivers ; Family ; Humans ; Qualitative Research ; Rare Diseases ; Therapeutic Misconception
Language	English
Publishing date	2021-01-12
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/s13023-020-01624-0
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Article: Early hearing detection and intervention in Canada.

Khurana, Puneeta / Cushing, Sharon L / Chakraborty, Pranesh K / Dunn, Jessica K / Papaioannou, Vicky A / Moodie, Rosemary G / Papsin, Blake C / Wong, Peter D

Paediatrics & child health

2020 Volume 26, Issue 3, Page(s) 141–144

Language	English
Publishing date	2020-07-08
Publishing country	England
Document type	Journal Article
ZDB-ID	2106767-3
ISSN	1918-1485 ; 1205-7088
ISSN (online)	1918-1485
ISSN	1205-7088
DOI	10.1093/pch/pxaa064
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Article ; Online: Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health research.

Vanderhout, Shelley / Potter, Beth K / Smith, Maureen / Butcher, Nancy J / Vaters, Jordan / Chakraborty, Pranesh / Adams, John / Inbar-Feigenberg, Michal / Offringa, Martin / Speechley, Kathy / Trakadis, Yannis / Binik, Ariella

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation

2023 Volume 32, Issue 8, Page(s) 2319–2328

Abstract: 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 research: (1) Is ... ...

Abstract	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 research: (1) Is it ethically obligatory, desirable or preferable to share PRO data collected for research with children, families, and health care providers? And if so, (2) What are the characteristics of a model best suited to guide the collection, monitoring, and sharing of these data? Methods: A multidisciplinary team of researchers, providers, patient and family partners, and ethicists examined the literature and identified a need for focus on PRO sharing in pediatric care-based research. We constructed and analyzed three models for managing pediatric PRO data in care-based research, drawing on ethical principles, logistics, and opportunities to engage with children and families. Results: We argue that it is preferable to share pediatric PRO data with providers, but to manage expectations and balance the risks and benefits of research, this requires a justifiable data sharing model. We argue that a successful PRO data sharing model will allow children and families to have access to and control over their own PRO data and be engaged in decision-making around how PROs collected for research may be integrated into care, but require support from providers. Conclusion: We propose a PRO data sharing model that can be used across diverse research settings and contributes to improved transparency, communication, and patient-centered care and research.
MeSH term(s)	Child ; Humans ; Child Health ; Quality of Life/psychology ; Information Dissemination ; Communication ; Patient Reported Outcome Measures
Language	English
Publishing date	2023-03-31
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1161148-0
ISSN	1573-2649 ; 0962-9343
ISSN (online)	1573-2649
ISSN	0962-9343
DOI	10.1007/s11136-023-03393-2
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Article ; Online: Unlocking the global health potential of dried blood spot cards.

Journal of global health

2022 Volume 12, Page(s) 3027

MeSH term(s)	Global Health ; Humans
Language	English
Publishing date	2022-07-16
Publishing country	Scotland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2741629-X
ISSN	2047-2986 ; 2047-2986
ISSN (online)	2047-2986
ISSN	2047-2986
DOI	10.7189/jogh.12.03027
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Article ; Online: Transient vs Permanent Congenital Hypothyroidism in Ontario, Canada: Predictive Factors and Scoring System.

Marr, Alexa / Yokubynas, Nicole / Tang, Ken / Saleh, David / Wherrett, Diane K / Stein, Robert / Bassilious, Ereny / Chakraborty, Pranesh / Lawrence, Sarah E

The Journal of clinical endocrinology and metabolism

2021 Volume 107, Issue 3, Page(s) 638–648

Abstract: Context: The apparent increased incidence of congenital hypothyroidism (CH) is partly due to increased detection of transient disease.: Objective: This work aims to identify predictors of transient CH (T-CH) and establish a predictive tool for its ... ...

Abstract	Context: The apparent increased incidence of congenital hypothyroidism (CH) is partly due to increased detection of transient disease. Objective: This work aims to identify predictors of transient CH (T-CH) and establish a predictive tool for its earlier differentiation from permanent CH (P-CH). Methods: A retrospective cohort study was conducted of patients diagnosed with CH from 2006 to 2015 through Newborn Screening Ontario (NSO). Results: Of 469 cases, 360 (76.8%) were diagnosed with P-CH vs 109 (23.2%) with T-CH. Doses of levothyroxine predicting T-CH were less than 3.9 μg/kg at age 6 months, less than 3.0 μg/kg at ages 1 and 2 years, and less than 2.5 μg/kg at age 3 years. Descriptive statistics and multivariable logistic modeling demonstrated several diverging key measures between patients with T-CH vs P-CH, with optimal stratification at age 1 year. Thyroid imaging was the strongest predictor (P < .001). Excluding imaging, significant predictors in the first year of life included thyroxine dose/kg (P < .001-.002), increase in thyrotropin (TSH) above the reference interval during treatment (P = .002), screening TSH (P = .03), and a history of maternal thyroid disease (P = .02). Based on the 1-year model without imaging, a risk score was developed to identify children with T-CH who may benefit from an earlier trial off therapy, to reduce excess medicalization and health care costs. Conclusion: A levothyroxine dose of less than 3 μg/kg at ages 1 and 2 years and less than 2.5 μg/kg at age 3 years can be predictive of T-CH. A novel risk score was developed that can be clinically applied to predict the likelihood of a successful trial off therapy for a given patient at age 1 year.
MeSH term(s)	Child, Preschool ; Congenital Hypothyroidism/blood ; Congenital Hypothyroidism/diagnosis ; Congenital Hypothyroidism/epidemiology ; Dose-Response Relationship, Drug ; Humans ; Hypothyroidism/blood ; Hypothyroidism/diagnosis ; Hypothyroidism/drug therapy ; Hypothyroidism/epidemiology ; Incidence ; Infant ; Infant, Newborn ; Male ; Neonatal Screening ; Ontario ; Retrospective Studies ; Risk Assessment/methods ; Risk Assessment/statistics & numerical data ; Risk Factors ; Thyrotropin/blood ; Thyroxine/administration & dosage
Chemical Substances	Thyrotropin (9002-71-5) ; Thyroxine (Q51BO43MG4)
Language	English
Publishing date	2021-11-29
Publishing country	United States
Document type	Comparative Study ; Journal Article
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/clinem/dgab798
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Article ; Online: Real world external validation of metabolic gestational age assessment in Kenya.

Hawken, Steven / Ward, Victoria / Bota, A Brianne / Lamoureux, Monica / Ducharme, Robin / Wilson, Lindsay A / Otieno, Nancy / Munga, Stephen / Nyawanda, Bryan O / Atito, Raphael / Stevenson, David K / Chakraborty, Pranesh / Darmstadt, Gary L / Wilson, Kumanan

PLOS global public health

2022 Volume 2, Issue 11, Page(s) e0000652

Abstract: 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 in a ... ...

Abstract	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 in a population of infants born in Siaya county, Kenya. Cord and heel prick samples were collected from newborns in Kenya and metabolic analysis was carried out by Newborn Screening Ontario in Ottawa, Canada. Postnatal GA estimation models were developed with data from Ontario with multivariable linear regression using ELASTIC NET regularization. Model performance was evaluated by applying the models to the data collected from Kenya and comparing model-derived estimates of GA to reference estimates from early pregnancy ultrasound. Heel prick samples were collected from 1,039 newborns from Kenya. Of these, 8.9% were born preterm and 8.5% were small for GA. Cord blood samples were also collected from 1,012 newborns. In data from heel prick samples, our best-performing model estimated GA within 9.5 days overall of reference GA [mean absolute error (MAE) 1.35 (95% CI 1.27, 1.43)]. In preterm infants and those small for GA, MAE was 2.62 (2.28, 2.99) and 1.81 (1.57, 2.07) weeks, respectively. In data from cord blood, model accuracy slightly decreased overall (MAE 1.44 (95% CI 1.36, 1.53)). Accuracy was not impacted by maternal HIV status and improved when the dating ultrasound occurred between 9 and 13 weeks of gestation, in both heel prick and cord blood data (overall MAE 1.04 (95% CI 0.87, 1.22) and 1.08 (95% CI 0.90, 1.27), respectively). The accuracy of metabolic model based GA estimates in the Kenya cohort was lower compared to our previously published validation studies, however inconsistency in the timing of reference dating ultrasounds appears to have been a contributing factor to diminished model performance.
Language	English
Publishing date	2022-11-28
Publishing country	United States
Document type	Journal Article
ISSN	2767-3375
ISSN (online)	2767-3375
DOI	10.1371/journal.pgph.0000652
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Article ; Online: Family History Taking in Pediatric Practice: A Qualitative Interview Study.

Tessier, Laure / Brehaut, Jamie C / Potter, Beth K / Chakraborty, Pranesh / Carroll, June C / Wilson, Brenda J

Public health genomics

2019 Volume 22, Issue 3-4, Page(s) 110–118

Abstract: Background: Family history (FH) is a risk factor for many conditions in pediatric practice. There is no standard of care regarding FH taking, and only a few published studies about current practice.: Objectives: To explore in depth pediatricians' ... ...

Abstract	Background: Family history (FH) is a risk factor for many conditions in pediatric practice. There is no standard of care regarding FH taking, and only a few published studies about current practice. Objectives: To explore in depth pediatricians' perceptions, attitudes, beliefs, and practices regarding FH taking. Methods: The Theoretical Domains Framework (TDF) was used to develop a comprehensive interview scheme. Semi-structured interviews were conducted with community pediatricians. Interviews were audio-recorded, transcribed, and analyzed using a thematic approach and the constant comparison method. Results: Eleven pediatricians were interviewed. FH was found to be a firmly embedded, complex, and important aspect of pediatric practice. Participants described FH as part of regular holistic care. FH and social history were linked and often appeared to be part of the same concept to participants. FH was used for a range of purposes. In addition to risk assessment, FH information helped clarify diagnosis and select medication, tailor overall patient management based on family circumstance, and provide psychosocial support for parents. Participants expressed confidence in their FH skills and reported tailoring their approach with experience. Most were not concerned about formal evidence for FH and would not change their practice except for "good reason." Conclusions: The use of the TDF helped ensure a comprehensive approach to FH taking in pediatric practice. The findings suggest that FH taking in this setting is a complex activity, embedded in routine care. Efforts to make FH taking more systematic may founder if they fail to take into account pediatricians' attitudes, perspectives, and practices.
MeSH term(s)	Adolescent ; Attitude of Health Personnel ; Attitude to Health ; Child ; Clinical Competence/standards ; Data Collection ; Female ; Holistic Health ; Humans ; Male ; Medical History Taking/standards ; Ontario ; Pediatricians/psychology ; Pediatricians/standards ; Pedigree ; Practice Patterns, Physicians'/standards ; Qualitative Research
Language	English
Publishing date	2019-10-29
Publishing country	Switzerland
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	2457023-0
ISSN	1662-8063 ; 1662-4246
ISSN (online)	1662-8063
ISSN	1662-4246
DOI	10.1159/000503729
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