Psychological functioning in children suspected for mitochondrial disease: the need for care
Open Access
- 24 March 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in Orphanet Journal of Rare Diseases
- Vol. 15 (1), 1-9
- https://doi.org/10.1186/s13023-020-1342-8
Abstract
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.This publication has 24 references indexed in Scilit:
- Mitochondrial DiseaseJournal of Child Neurology, 2013
- Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial supportOrphanet Journal of Rare Diseases, 2013
- Developing outcome measures for pediatric mitochondrial disorders: Which complaints and limitations are most burdensome to patients and their parents?Mitochondrion, 2013
- Monogenic Mitochondrial DisordersThe New England Journal of Medicine, 2012
- Behavior Problems in Children and Adolescents With Chronic Physical Illness: A Meta-AnalysisJournal of Pediatric Psychology, 2011
- Major depression in adolescent children consecutively diagnosed with mitochondrial disorderJournal of Affective Disorders, 2009
- The PedsQLTM 4.0 as a School Population Health Measure: Feasibility, Reliability, and ValidityQuality of Life Research, 2006
- The epidemiology of mitochondrial disorders—past, present and futureBiochimica et Biophysica Acta (BBA) - Bioenergetics, 2004
- The demands of biochemical genetic disorders: A survey of mothers of children with mitochondrial disease or phenylketonuriaJournal of Pediatric Nursing, 2003
- Cautions in Using the Child Behavior Checklist: Observations Based on Research About Children with a Chronic IllnessJournal of Pediatric Psychology, 1991