Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Carer burden in rare inherited diseases: a literature review and conceptual model

9 Dec 2022

Abstract excerpt

BACKGROUND: Carers of people living with rare diseases report heavy burden and a plethora of unmet needs. A previous parental supportive care needs framework has described the needs of parents of children living with rare diseases, but it is not specific to rare inherited diseases (RIDs) and does not include non-parental carers. We conducted a targeted literature review to: (1) ascertain the burden/supportive...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genomics and Rare Diseases
Share to BRCA gene mutations in cancer
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36494728
DOI: 10.1186/s13023-022-02561-w

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Carer burden in rare inherited diseases: a literature review and conceptual modelPMID 36494728Read ↗

Analysis of the disease burden of rare disorders among children: a single-center study from western ChinaSemantic proximity Read ↗

Rare diseases in Tanzania: a National Call for Action to address policy and urgent needs of individuals with rare diseasesSemantic proximity Read ↗

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delaysSemantic proximity Read ↗

Alone in a Crowd? Parents of Children with Rare Diseases’ Experiences of Navigating the Healthcare SystemSemantic proximity Read ↗

A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare diseaseSemantic proximity Read ↗

Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patientsSemantic proximity Read ↗

Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes.Semantic proximity Read ↗

What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditionsSemantic proximity Read ↗

A Questionnaire-based Study to Comprehensively Assess the Status Quo of Rare Disease Patients and Care-givers in ChinaSemantic proximity Read ↗

A questionnaire-based study to comprehensively assess the status quo of rare disease patients in ChinaSemantic proximity Read ↗

Time to diagnosis and determinants of diagnosis delays of people living with a rare disease: a Rare Barometer retrospective patient surveySemantic proximity Read ↗

“I Felt Like a Lone Ranger”: Experiences of Australian Families Living with KIF1A-Associated Neurological DisorderSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.