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

Reynolds, Elizabeth K.; Byrne, M.; Ganetzky, Rebecca; Parikh, Sumit

doi:10.1016/j.ymgme.2021.11.004

Cited by 12 publications

(52 citation statements)

References 27 publications

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“…PS is a clinically unique PMD, in which anemia is often the sole presenting symptom and other features suggesting PMD are lacking [ 3 , 6 , 31 ]. Other common initial symptoms are failure to thrive and gastrointestinal symptoms such as vomiting, diarrhea and feeding difficulties [ 7 , 31 ]. In our recently published study on 25 individuals with PS, anemia developed at a median age of 5 months (range 0–31 months) [ 6 ].…”

Section: Diagnosis Of Pearson Syndromementioning

confidence: 99%

“…The frequency of spontaneous resolution of anemia with transfusion independency was 66% in our German/Austrian study [ 6 ]. Hematological recovery usually occurred at the age of 1 to 3 years [ 6 , 7 ]. Presence of hematological recovery does, however, not imply a better outcome with lower severity of other organ complications [ 6 ].…”

Section: Hematological Coursementioning

confidence: 99%

“…Son, et al reported a patient with PS, who developed myelodysplastic syndrome with excess blasts (13% blasts in BM) at the age of 9 months and received allogeneic HSCT at the age of 10 months [ 57 ]. Reynolds et al reported that 9% of patient with PS developed myeloid malignancies [ 7 ]. These reports suggest that PS predisposes to myeloid malignancies.…”

Section: Hematological Coursementioning

confidence: 99%

“…The prevalence of PS is approximately 1: 1,000,000 [ 3 ]. To date, less than 150 cases have been reported worldwide [ 3 – 7 ]. PS is a unique primary mitochondrial disease (PMD), which typically presents with severe hypoproliferative anemia in early infancy followed by progressive symptoms and multi-organ dysfunctions including lactic acidosis, pancreatic insufficiency, renal tubulopathy, failure to thrive, muscle hypotonia, and endocrine disorders [ 1 , 3 , 4 , 6 – 8 ].…”

Section: Introductionmentioning

confidence: 99%

“…Therapeutic approaches are so far only symptomatic, and patients with PS have a dismal prognosis. The majority of patients die before 6 years of age [ 3 – 5 , 7 , 8 ]. Recently, increasing attention is being paid to PS due to development of novel therapies for PMDs, which can potentially be applied in children with this rare disease [ 9 – 12 ].…”

Section: Introductionmentioning

confidence: 99%

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Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

Yoshimi

Ishikawa

Niemeyer

et al. 2022

Orphanet J Rare Dis

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Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuolization in erythroid and myeloid precursors and ring-sideroblasts guides to the correct diagnosis, which is established by detection of SLSMDs. Non hematological symptoms suggesting a mitochondrial disease are often lacking at initial presentation, thus PS is an important differential diagnosis in isolated hypogenerative anemia in infancy. Spontaneous resolution of anemia occurs in two-third of patients at the age of 1–3 years, while multisystem non-hematological complications such as failure to thrive, muscle hypotonia, exocrine pancreas insufficiency, renal tubulopathy and cardiac dysfunction develop during the clinical course. Some patients with PS experience a phenotypical change to Kearns-Sayre syndrome. In the absence of curative therapy, the prognosis of patients with PS is dismal. Most patients die of acute lactic acidosis and multi-organ failure in early childhood. There is a great need for the development of novel therapies to alter the natural history of patients with PS.

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Section: Diagnosis Of Pearson Syndromementioning

confidence: 99%

Section: Hematological Coursementioning

confidence: 99%

Section: Hematological Coursementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

Yoshimi

Ishikawa

Niemeyer

et al. 2022

Orphanet J Rare Dis

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Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome

Belgacem,

Dubois,

Jacoby

et al. 2023

American J Hematol

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Understanding the impact of pediatric single large‐scale mtDNA deletion syndromes on caregivers: Burdens and challenges

Chappell

Parikh

Reynolds³

2023

JIMD Reports

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Single large‐scale mitochondrial deletion syndromes (SLSMDS) are ultra‐rare, progressive multi‐system diseases that make children largely dependent on their caregivers for both medical and non‐medical needs. Yet, few studies have examined the burden felt among caregivers. As part of a larger research study, 42 caregivers of children with SLSMDS completed two surveys to assess caregiver burden. The Mitochondrial Care Network Patient Needs Survey (MCN‐PNS) is a novel assessment that examines the logistical, time, and financial costs experienced by caregivers of children with SLSMDS. The Zarit Burden Interview (ZBI‐22) is a validated assessment that examines caregivers’ psychological health. Results demonstrate the unique burden experienced by caregivers of children with SLSMDS. One notable finding was the high psychological burden. Nearly 90% of caregivers experience psychological burden, with 20% of caregivers at risk for anxiety and depression. Caregivers were primarily concerned about what the future held for their child. Additional burdens included the time required to coordinate the child's healthcare visits and financial strains. Caregivers reported minimal delays in establishing care with a mitochondrial care specialist and felt confident in their understanding of their child's disease and treatment(s). Overall, there is a need for expanded logistical, financial, and psychological support from mitochondrial disease centers and advocacy groups for caregivers of children with SLSMDS.

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

Cited by 12 publications

References 27 publications

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome

Understanding the impact of pediatric single large‐scale mtDNA deletion syndromes on caregivers: Burdens and challenges

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