Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes

Mol Genet Metab. 2021 Dec;134(4):301-308. doi: 10.1016/j.ymgme.2021.11.004. Epub 2021 Nov 14.

Abstract

There is a limited understanding of system-level clinical outcomes and interventions associated with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Additionally, no research exists that describes patient reported outcomes (PROs) of children with SLSMDS. A global and observational registry was established to understand the multi-systemic course of SLSMDS and track clinical outcomes. The development and design of the registry is described. Demographic characteristics, history and diagnoses, and system level prevalence of problems and interventions are reported for 42 children. System level problems and interventions include information on the following body systems: audiology, cardiac, endocrine, gastrointestinal (including pancreatic and hepatobiliary system), hematological, metabolic, neurological (including autonomic, mobility, & learning), ophthalmic, psychiatric, renal, and respiratory. Results emphasize the need of patient registries and suggest that the diagnostic odyssey and burden of disease for children with SLSMDS is significant. System-level findings may help families and clinical providers with diagnosis, prognostication, and treatment. A multidisciplinary team of clinical experts with a central coordinating specialist for children with SLSMDS is recommended.

Keywords: Kearns-Sayre syndrome; Pearson syndrome; Rare disease registry; Single large-scale mitochondrial deletion syndromes; mtDNA.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Congenital Bone Marrow Failure Syndromes / complications*
  • Congenital Bone Marrow Failure Syndromes / diagnosis
  • Congenital Bone Marrow Failure Syndromes / therapy
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Kearns-Sayre Syndrome / complications*
  • Kearns-Sayre Syndrome / diagnosis
  • Kearns-Sayre Syndrome / therapy
  • Lipid Metabolism, Inborn Errors / complications*
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / therapy
  • Male
  • Mitochondrial Diseases / complications*
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / therapy
  • Muscular Diseases / complications*
  • Muscular Diseases / diagnosis
  • Muscular Diseases / therapy
  • Patient Reported Outcome Measures*

Supplementary concepts

  • VLCAD deficiency