Psychological functioning in children suspected for mitochondrial disease: the need for care

Loo, Kim F. E. van de; Custers, José A. E.; Koene, Saskia; Klein, Inge-Lot; Janssen, Mirian C. H.; Smeitink, Jan A.M.; Verhaak, C.M.

doi:10.1186/s13023-020-1342-8

Cited by 8 publications

(8 citation statements)

References 24 publications

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“…Our results therefore confirm a major deterioration in the quality of life of children and adolescents with MD corroborating what has previously been shown by several studies ( 44 , 45 ).…”

Section: Discussionsupporting

confidence: 93%

Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series

et al. 2021

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Background: Mitochondrial disorders (MD) are a group of clinically heterogeneous genetic disorders resulting from dysfunction of the mitochondrial respiratory chain. Cognitive impairment is a common feature in adults with MD and psychiatric symptoms are associated with MD in up to 70% of the adult population. The aim of this study is to describe the psychiatric profile in children and adolescents with MD by focusing on the description of psychiatric symptoms.Methods: A cohort of 12 children and adolescents was prospectively recruited between February 2019 and February 2020 in the Reference Center for Mitochondrial Disorders of Angers (France). Participants and their parents completed an anamnestic form to provide socio-demographic data and completed the Global Assessment of Functioning scale, the Brief Psychiatric Rating Scale, the Child Depression Inventory, the Revised Children's Manifest Anxiety Scale, and the Conner's Rating Scale to evaluate the inattention/hyperactivity symptoms as well as the Quality of Life scale.Results: Four children (33.3%) were diagnosed with depressive symptoms. With regarding to anxiety, 6 children (50%) reported anxiety issues during the psychiatric interview and 3 children (25%) were suffering from anxiety according to the RCMAS scale. Compared to other children with chronic illnesses, the individuals in our cohort reported a lower overall quality of life score and lower scores in physical and social subscales.Conclusion: Our study shows that MD can lead to psychiatric disorders in children and adolescents, in particular anxiety and depression, as well as poor quality of life. This highlights the need for regular psychiatric assessments in individuals with developing brains, such as children and adolescents. We do not, however, have data regarding the neuropsychological profile of this population.

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“…Our results therefore confirm a major deterioration in the quality of life of children and adolescents with MD corroborating what has previously been shown by several studies ( 44 , 45 ).…”

Section: Discussionsupporting

confidence: 93%

Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series

et al. 2021

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“…This re ects existing grey literature [3,5,30] and is consistent with ndings from condition-speci c studies which used diagnostic tools to measure anxiety and/or depression in rare disease patients and/or carers [20][21][22] and impact on quality of life. [17][18][19] Consistent with condition-speci c research [33][34][35][36], our ndings show that the negative impact on mental health can be chronic, and can occur or recur at different times such as during the 'diagnostic odyssey'; when a diagnosis is given; and while coming to terms with the condition. This highlights the periods when additional emotional support may be particularly important.…”

Section: Discussionsupporting

confidence: 82%

“…Factors related to service access were also likely related to the rarity of the condition, in particular the way care is coordinated; it is well established that care is often poorly coordinated for rare disease patients, many of whom have complex needs and are under the care of several doctors from different specialties. [4] Our ndings are consistent with previous condition-and country-speci c research into the psychological impact of the process of diagnosis [34][35][36], and the experiences of Australian families affected by rare diseases that found that delay in diagnosis and the perceived lack of knowledge among healthcare professionals were associated with anxiety and stress. [7] This study also reported that parents perceived the lack of knowledge among clinicians to be a leading cause of diagnostic delays, highlighting an interrelation between two emotional stressors.…”

Section: Factors Affecting Mental Healthsupporting

confidence: 88%

Mental health care for rare disease in the UK – recommendations from a quantitative survey and multi-stakeholder workshop

Spencer-Tansley

Meade

Ali

et al. 2022

Preprint

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Background Rare disease patients and carers report significant impacts on mental health but studies have focussed on relatively few, specific conditions. Collectively rare conditions represent a substantial health burden, with an estimated 3.5 million affected individuals in the UK.Method We explored the impact on mental health of living with a rare condition, and experiences of health service support, through an online survey. We offer recommendations, developed through a multi-stakeholder workshop, for policy and practice toward a more person-centred and integrated approach. Results Eligible responses came from 1,231 patients and 564 carers. Due to their rare condition, the majority of respondents had felt worried/anxious (95%); stressed (93%); low/depressed (90%); emotionally exhausted (88%). Thirty-six percent of patients and 19% of carers had had suicidal thoughts.Challenges that are particular to rare conditions and which negatively affect mental health included limited knowledge of the condition amongst healthcare professionals (88%), not being believed or taken seriously by healthcare professionals (80%), and lack of available information about the condition (76%). Only 23% of respondents felt healthcare professionals considered mental and physical health as equally important. Almost half of patients (46%) and carers (48%) reported never having been asked about their mental health, or that of the person they care for, by healthcare professionals. Our findings indicate that access to, and appropriateness of, professional psychological support needs to be improved. Peer group support is important but signposting is inadequate.Following a multi-stakeholder workshop we developed recommendations for healthcare professionals to be supported to effectively and sensitively recognise and address patients’ and carers’ mental health needs; and for service level coordination of care to integrate professional psychological support with rare disease services.Conclusion Living with a rare disease substantially impacts mental health. Many of the drivers of poor mental health reflect issues specific to managing rare conditions. To meet UK government commitments, there should be a focus on empowering healthcare professionals who treat rare disease patients and on integration of mental health support with rare disease services.

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“…intelligence, and BMI following multivariate logistic regression analysis. It is known that the somatic complaints subscale of the CBCL is difficult to interpret in children with chronic disease, and the items could overlap with illness-specific symptoms (van de Loo et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

Parenting stress in families of children with Prader–Willi syndrome

Wong

Wang

Tsai

et al. 2020

American J of Med Genetics Pt A

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Prader–Willi syndrome (PWS) is a neurodevelopmental disorder characterized by multiple endocrine, metabolic, respiratory, cognitive, and behavioral/psychiatric symptoms that may lead to severe emotional strain in their caregivers. In this study, we evaluated parenting stress by the Parenting Stress Index‐short form (PSI/SF) and parent‐reported behavioral symptoms by the Child Behavior Checklist (CBCL/6–18) in families of children with PWS. Sixty‐seven home‐resident PWS patients and their families were recruited in this study. The patients' mean age was 14.9 ± 8.3 years, and 33 (50.8%) were male. High parenting stress was reported by 41.5% families, as determined by high total stress scores of PSI/SF. The patients in high stress families were significantly older than those in low stress families (18.2 ± 8.0 vs. 12.6 ± 7.8 years, p = .007). CBCL/6–18 was used to evaluate the somatic and neuropsychiatric symptoms of PWS patients aged between 6 and 18 in the subgroup of the 35 families. In this subgroup, 37.1% of families reported high parenting stress. High stress families reported a higher T‐score in anxiety/depression, withdrawn behavior, somatic complaints, thought problems, attention problems, and delinquent and aggressive behavior of their children with PWS. After multivariate stepwise logistic regression analysis, the T‐score of somatic complaints was the only factor related to high parenting stress, with an odds ratio of 1.279. Our data demonstrated the high care burden of families with PWS and highlighted the importance of having dedicated medical care for both somatic and neuropsychiatric symptoms.

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Psychological functioning in children suspected for mitochondrial disease: the need for care

Cited by 8 publications

References 24 publications

Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series

Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series

Mental health care for rare disease in the UK – recommendations from a quantitative survey and multi-stakeholder workshop

Parenting stress in families of children with Prader–Willi syndrome

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