A recent study published in the Orphanet Journal of Rare Diseases examines the psychological burden of mitochondrial diseases in children that are suspected of having some form of it but have yet to be officially diagnosed. Diseases affecting the mitochondria can have a diverse and severe range of impacts, but the psychological toll of mitochondrial diseases is often overlooked.
About Mitochondrial Diseases
Mitochondrial diseases are a group of genetic disorders that causes the mitochondria to not function properly. The mitochondria are an essential organelle that is found in most types of cells in the body, with red blood cells being the only exception. They are responsible for generating energy for the cell. Mitochondrial diseases are usually caused by mutations of the mitochondrial DNA or the nuclear DNA. Symptoms tend to be the worst when the issue affects cells that use a lot of energy, such as the muscles or parts of the brain. These symptoms affect many aspects of bodily function and include poor growth, poor muscle coordination, dementia, neurological issues, muscle weakness, breathing disorders, vision problems, digestive disorders, hearing problems, disease of the kidney, liver, and heart, and learning disabilities. Treatment options are limited in number and in their effectiveness. To learn more about mitochondrial diseases, click here.
About The Study
For this study, the parents of 122 children who were suspected of having the disease were asked to fill out a survey consisting of 20 questions that focused on the child’s current psychological state as well as their own quality of life. Most of the children had been dealing with symptoms for at least three years. 75 percent of the children were currently seeing a specialist; 55 percent were seeing a physiotherapist and 28 percent were seeing either a dietician or speech therapist.
Mental health problems such as anxiety or depression are a frequent comorbidity in mitochondrial diseases. The results of the survey found that mothers and children both experienced lower quality of life scores when compared to the general population. Mothers reported 12.3 percent of children as displaying withdrawn/depressed behavior; fathers reported this 13.3 percent of the time. Other common complaints from the children were pain and tiredness.
Generally, the results suggest that children who are in the midst of getting a diagnosis for mitochondrial diseases display significant issues with psychological functioning, at least some of the time. The uncertainty of living with symptoms and no diagnosis is undoubtedly a source of distress, and it is likely that these findings could be similar for other chronic illnesses as well.