Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.

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  • Additional Information
    • Source:
      Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
    • Publication Information:
      Original Publication: [London] : BioMed Central, 2006-
    • Subject Terms:
      Mitochondrial Diseases*/diagnosis; Humans ; Cross-Sectional Studies ; Retrospective Studies ; Male ; Female ; Adult ; Child ; Adolescent ; Young Adult ; Caregivers ; Ubiquinone/analogs & derivatives ; Ubiquinone/therapeutic use ; Caregiver Burden ; Surveys and Questionnaires
    • Abstract:
      Background: This study aimed to explore the demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases.
      Methods: This retrospective cross-sectional study enrolled patients diagnosed with mitochondrial diseases from the Department of Neurology at Peking University First Hospital between January 2010 and December 2021. A questionnaire covering demographic characteristics, diagnostic dilemma, treatment, economic aspects, and caregiver stress was administered, and disability was assessed using the modified Rankin Scale (mRS).
      Results: A total of 183 patients (mean age: 16 (IQR: 12-25), 49.72% males) were enrolled, including 124 pediatric patients and 59 adult patients. MELAS (106. 57.92%) and Leigh syndrome (37, 20.22%) were predominant among the mitochondrial disease subtypes. Among them, 132 (72.13%) patients were initially misdiagnosed with other diseases, 58 (31.69%) patients visited 2 hospitals before confirmed as mitochondrial disease, and 39 (21.31%) patients visited 3 hospitals before confirmed as mitochondrial disease. Metabolic modifiers were the most common type of drugs used, including several dietary supplements such as L-carnitine (117, 63.93%), Coenzyme Q10 (102, 55.74%), idebenone (82, 44.81%), and vitamins (99, 54.10%) for proper mitochondrial function. Mothers are the primary caregivers for both children (36.29%) and adults (38.98%). The mRS score ranged from 0 to 5, 92.35% of the patients had different degrees of disability due to mitochondrial disease. The average monthly treatment cost was 3000 RMB for children and 3100 RMB for adults.
      Conclusions: This study provided valuable insights into the characteristics and challenges of mitochondrial diseases, which underscores the need for improved awareness, diagnostic efficiency, and comprehensive support for patients and caregivers.
      (© 2024. The Author(s).)
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    • Contributed Indexing:
      Keywords: Caregiver burden; Demographics; Diagnostic challenges; Disease burden; Mitochondrial disease; Treatment patterns
    • Accession Number:
      1339-63-5 (Ubiquinone)
    • Publication Date:
      Date Created: 20240802 Date Completed: 20240803 Latest Revision: 20240806
    • Publication Date:
      20240806
    • Accession Number:
      PMC11297657
    • Accession Number:
      10.1186/s13023-024-03289-5
    • Accession Number:
      39095827