Abstract
BackgroundMitochondrial diseases (MD) are generally serious and progressive, inherited metabolic diseases. There is a high comorbidity of anxiety and depression and limitations in daily functioning. The complexity and duration of the diagnostic process and lack of knowledge about prognosis leads to uncertainty. In this study, we investigated the psychological well-being of children who are suspected for MD and their parents.MethodsIn total 122 children suspected for MD and their parents, received questionnaires as part of standard clinical investigation.ResultsParent proxy report revealed a lower quality of life (QoL) compared to norms and even more physical problems compared to chronically ill patients. They also reported more behavioral problems in general and more internalizing problems compared to the norms. Most frequent reported somatic complaints were tiredness and pain. Parents did not report enhanced levels of stress regarding parenting and experienced sufficient social support. At the end of the diagnostic process, 5.7% of the children received the genetically confirmed diagnosis of MD, 26% showed non-conclusive abnormalities in the muscle biopsy, 54% did not receive any diagnosis, and the remaining received other diagnoses. Strikingly, children without a diagnosis showed equally QoL and behavioral problems as children with a diagnosis, and even more internalizing problems.ConclusionsThis study highlights the psychological concerns of children with a suspicion of MD. It is important to realize that as well as children with a confirmed diagnosis, children without a diagnosis are vulnerable since explanation for their complaints is still lacking.
Highlights
Mitochondrial diseases (MD) are generally serious and progressive, inherited metabolic diseases
Mitochondrial diseases (MD) are rare and inherited metabolic diseases, which may present with any symptom, at any age and any mode of inheritance [1]
Anxiety and depression are common in children with MD [7, 8], with an even higher comorbidity compared to children with other types of inborn errors of metabolism and compared to patients with Sotos syndrome [8]
Summary
Mitochondrial diseases (MD) are generally serious and progressive, inherited metabolic diseases. There is a high comorbidity of anxiety and depression and limitations in daily functioning. Mitochondrial diseases (MD) are rare and inherited metabolic diseases, which may present with any symptom, at any age and any mode of inheritance [1]. The diagnosis of MD is acquired through multiple steps; the clinical presentation (complaints, signs and symptoms, inheritance), clinical chemistry, metabolic studies, pathological evaluation, biochemical and genetic testing [6]. The most burdensome complaints in children are fatigue, behavior and speech disturbances, epilepsy and muscle weakness, and a high degree of limitations in daily activities [1]. The severe limitations children experience and the large variability in clinical manifestations result in a high impact on the well-being of the caregiver [9]. Parenting stress is higher when there are more hospitalizations and increased use of special services, and when there is more organ involvement [11]
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