Psychological functioning in children suspected for mitochondrial disease: the need for care
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Published on: July 9, 2016
Kim F E van de Loo1, José A E Custers2, Saskia Koene3,4
1Radboud Institute for Health Sciences, Department of Medical Psychology, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500HB, Nijmegen, The Netherlands. Kim.vandeLoo@radboudumc.nl.
Insights
Children suspected for mitochondrial diseases (MD) and their parents experience significant psychological distress and quality of life issues, regardless of diagnosis. This highlights the need for support for all children facing diagnostic uncertainty.
Area of Science:
- Pediatric Neurology
- Clinical Psychology
- Genetics
Background:
- Mitochondrial diseases (MD) are severe, inherited metabolic disorders often associated with anxiety, depression, and functional limitations.
- The diagnostic journey for MD is complex and lengthy, causing significant uncertainty for patients and families.
- Psychological well-being in children with suspected MD and their parents is a critical, yet often overlooked, aspect of care.
Purpose of the Study:
- To investigate the psychological well-being of children with suspected mitochondrial diseases (MD).
- To assess the impact of diagnostic uncertainty on the mental health of children and their parents.
- To compare the psychological outcomes of children with confirmed MD, inconclusive results, and no diagnosis.
Main Methods:
- A cohort of 122 children suspected for MD and their parents completed questionnaires during clinical investigation.
- Parent proxy reports were used to assess quality of life, physical and behavioral problems, and parental stress.
- Diagnostic outcomes were categorized into confirmed MD, inconclusive muscle biopsy, no diagnosis, or other diagnoses.
Main Results:
- Parents reported lower quality of life, increased physical and behavioral problems (especially internalizing) in children compared to general and chronically ill populations.
- Tiredness and pain were the most reported somatic complaints.
- Children without a confirmed diagnosis showed similar quality of life and behavioral issues as those with a diagnosis, with even higher internalizing problems.
Conclusions:
- Children with suspected MD experience significant psychological distress, impacting their quality of life.
- The lack of a definitive diagnosis does not alleviate psychological burden; children without a diagnosis remain vulnerable.
- Healthcare providers must address the psychological needs of all children undergoing MD investigation, irrespective of the diagnostic outcome.
Background:
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. 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.
Methods:
In total 122 children suspected for MD and their parents, received questionnaires as part of standard clinical investigation.
Results:
Parent 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.
Conclusions:
This 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.
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