Evidence map›Paper›PMID 42271415›Full record

ArticleOrphanet journal of rare diseases2026

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.

Andrea J Chow, Isabel Jordan, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Jamie Brehaut, Alicia K J Chan, Eyal Cohen, Sarah Dyack, Ian D Graham and 21 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

31 authors.

Andrea J ChowSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Crescent, Office 207C, Ottawa, ON, K1G 5Z3, Canada.ORCID http://orcid.org/0000-0003-1683-2912
Isabel JordanPatient partner, Squamish, Canada.
Nicole PallonePatient Partner, Sparwood, Canada.
Maureen SmithPatient Partner, Ottawa, Canada.ORCID http://orcid.org/0000-0002-2885-7028
Pranesh ChakrabortyDepartment of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Jamie BrehautMethodological and Implementation Research, Ottawa Hospital Research Institute, Ottawa, Canada.
Alicia K J ChanDepartment of Medical Genetics, University of Alberta, Edmonton, Canada.
Eyal CohenDepartment of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Canada.ORCID http://orcid.org/0000-0003-0112-7188
Sarah DyackDepartment of Pediatrics, Dalhousie University, Halifax, Canada.
Ian D GrahamSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Crescent, Office 207C, Ottawa, ON, K1G 5Z3, Canada.ORCID http://orcid.org/0000-0002-3669-1216
Cheryl R GreenbergDepartment of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Robin HayeemsChild Health Evaluative Sciences, University of Toronto, Hospital for Sick Children, Toronto, Canada.
Michal Inbar-FeigenbergDivision of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada.ORCID http://orcid.org/0000-0001-8128-5789
Shailly Jain-GhaiDepartment of Medical Genetics, University of Alberta, Edmonton, Canada.
Sara KhanguraSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Crescent, Office 207C, Ottawa, ON, K1G 5Z3, Canada.ORCID http://orcid.org/0000-0003-0094-6771
Jennifer J MacKenzieDepartment of Medicine, Queen's University, Kingston, Canada.ORCID http://orcid.org/0000-0002-3374-8619
Nathalie MajorDepartment of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Canada.ORCID http://orcid.org/0000-0003-3655-7460
John J MitchellMontreal Children's Hospital, Montreal, Canada.
Stuart G NichollsSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Crescent, Office 207C, Ottawa, ON, K1G 5Z3, Canada.ORCID http://orcid.org/0000-0003-0485-9069
Amy PenderGenetics & Metabolics Clinic, McMaster Children's Hospital, Hamilton, Canada.
Murray PotterDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.ORCID http://orcid.org/0000-0003-0577-362X
Chitra PrasadDepartment of Pediatrics, Western University, London, Canada.
Andreas SchulzeDivision of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada.ORCID http://orcid.org/0000-0001-8491-1095
Komudi SiriwardenaDepartment of Medical Genetics, University of Alberta, Edmonton, Canada.
Kathy N SpeechleyDepartment of Pediatrics, Western University, London, Canada.ORCID http://orcid.org/0000-0002-5563-2377
Sylvia StocklerBC Children's Hospital, Vancouver, Canada.ORCID http://orcid.org/0000-0002-6542-423X
Monica TaljaardMethodological and Implementation Research, Ottawa Hospital Research Institute, Ottawa, Canada.
Yannis TrakadisMedical Genetics, Montreal Children's Hospital, Montreal, Canada.
Jagdeep WaliaDepartment of Pediatrics, Queen's University, Kingston, Canada.
Kumanan WilsonMethodological and Implementation Research, Ottawa Hospital Research Institute, Ottawa, Canada.ORCID http://orcid.org/0000-0002-1741-7705
Beth K PotterSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Crescent, Office 207C, Ottawa, ON, K1G 5Z3, Canada. bpotter@uottawa.ca.ORCID http://orcid.org/0000-0001-8374-6542

Funding

CIHR PJT-153230
6 · The paper itself

Abstract

backgroundChildren with inherited metabolic diseases (IMDs) often have high care needs that require extensive involvement of family caregivers. This study aimed to describe caregiver experiences, including management of children's needs at home, and the impacts of that management on family time, finances, and caregiver and child health-related quality of life (HRQoL).

methodsIn this sub-study within a larger cohort study, participants were family caregivers of children ≤ 12 years old diagnosed with an IMD, from across Canada. We collected cross-sectional data using an online questionnaire consisting of validated measures and team-developed questions, and analyzed data descriptively.

resultsSeventy-one caregivers participated and reported using a range of supports and interventions to care for their children with IMDs, with dietary supports being most common (77.1%). Twenty-seven participants (45%) reported spending ≥ 4 extra hours per week assisting their child with care supports at home and 28 reported ≥ 6 missed days of work by caregivers in the past year for IMD care. All participants reported fulfillment from caregiving tasks, although 82% reported mental struggles related to caregiving. Based on caregiver reports, children with IMDs had lower HRQoL relative to population normative data. We observed lower median scores for several HRQoL subscales among children with IMDs classified as progressive with multi-system involvement relative to other IMDs.

conclusionWe identified important impacts of IMD care for family caregivers. Relief from high levels of caregiving responsibility and time should be a priority for the development of healthcare policies and interventions, to improve health and well-being for both children and their caregivers.

Indexed as

Metabolic DiseasesAdultCaregiversChildChild, PreschoolCross-Sectional StudiesFemaleHumansInfantMaleQuality of LifeSurveys and QuestionnairesFamily-centred careHealthcare managementInherited metabolic diseasesPediatricsRare diseases

Identifiers

PMID42271415
PMCPMC13487924

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.