Call Issued for Collaborative Studies to Research Pediatric Mitochondrial Disease

Patricia Inacio, PhD avatar

by Patricia Inacio, PhD |

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PMPCB gene mutations

In an editorial published in the journal Pediatric Neurology, Steven G. Pavlakis, MD, comments on the findings of three studies concerning the many aspects of disease manifestation of children with mitochondrial disease.

The commentary, “Filling in the Gaps of Mitochondrial Disease in Children,” underscores that, although the first clinical cases resulting from mitochondria dysfunction were reported for more than a half a century, the many facets of the disease are still being established.

In the study “Preliminary study of neurodevelopmental outcome and parenting stress in pediatric mitochondrial disease,” authors analyzed both quality-of-life (QOL) and neuropsychological parameters in a cohort of 70 individuals with mitochondrial disease and their mothers. They report that patients showed mild delays in intelligence co-efficiency accompanied with frequent occurrence of behavioral abnormalities. The mothers of these children showed significant levels of stress and depression.

One important question, which is still unanswered, is whether mitochondrial diseases also affect these mothers with stress, the author noted.

In a study published last year, “Cause of death in children with mitochondrial diseases,” researchers investigated the causes of death in children with mitochondrial disease. They found that death in children less than six years old is associated with brain lesions and Leigh syndrome, a severe neurological disorder that usually becomes apparent in the first year of life.

In a another report, also published in Pediatric Neurology researchers investigated epilepsy in children with mitochondrial disease. The study, “Epilepsy characteristics and clinical outcome in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS),” found that patients suffered from seizures, although some level of seizure control was achievable.

Collectively, these reports suggest that both psychological and behavioral problems are a common feature in many individuals with mitochondrial disease.

Overall, “these three articles provide insight but also speak to the need for the development of collaborative databases in rare clinical syndromes, with the ultimate goal being the advent of prospective studies,” the author wrote.

This will be achieved with “international collaboration, the initiation of databases, and ultimately prospective studies are the way to go. To do this will require a collaborative organization that encourages patient recruitment and the initiation of clinical trials,” the authors concluded.