Inborn errors of metabolism: Psychosocial challenges and proposed family systems model of intervention

doi:10.1016/j.ymgme.2012.01.014

Molecular Genetics and Metabolism

Volume 105, Issue 4, April 2012, Pages 537-541

https://doi.org/10.1016/j.ymgme.2012.01.014 Get rights and content

Abstract

Inborn errors of metabolism result in psychosocial crises that challenge individual and familial modes of functioning across the life cycle. Increased stress, mood disorders, interpersonal challenges, decreased quality of life, and grief reactions are all common for patients and their families. To effectively care for these patients, a holistic approach to their care, which incorporates their social context, is essential. Patients and their families need support as they focus on immediate practical demands, grieve over illness-related losses, and reorient future expectations. A family systems based model provides a flexible and individualized approach to care that allows for optimal psychosocial adjustment throughout the disease process.

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Cited by (30)

Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey
2024, Molecular Genetics and Metabolism
The MetabQoL 1.0 is the first disease-specific health related quality of life (HrQoL) questionnaire for patients with intoxication-type inherited metabolic disorders. Our aim was to assess the validity and reliability of the MetabQoL 1.0, and to investigate neuropsychiatric burden in our patient population.
Data from 29 patients followed at a single center, aged between 8 and 18 years with the diagnosis of methylmalonic acidemia (MMA), propionic acidemia (PA) or isovaleric acidemia (IVA), and their parents were included. The Pediatric Quality of Life Inventory (PedsQoL) was used to evaluate the validity and reliability of MetabQoL 1.0.
The MetabQoL 1.0 was shown to be valid and reliable (Cronbach's alpha: 0.64–0.9). Fourteen out of the 22 patients (63.6%) formally evaluated had neurological findings. Of note, 17 out of 20 patients (85%) had a psychiatric disorder when evaluated formally by a child and adolescent psychiatrist. The median mental scores of the MetabQoL 1.0 proxy report were significantly higher than those of the self report (p = 0.023). Patients with neonatal-onset disease had higher MetabQoL 1.0 proxy physical (p = 0.008), mental (p = 0.042), total scores (p = 0.022); and self report social (p = 0.007) and total scores (p = 0.043) than those with later onset disease.
This study continues to prove that the MetabQoL 1.0 is an effective tool to measure what matters in intoxication-type inherited metabolic disorders. Our results highlight the importance of clinical assessment complemented by patient reported outcomes which further expands the evaluation toolbox of inherited metabolic diseases.
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach
2023, Journal of Pediatrics
Citation Excerpt :
Parental anxiety may be constant irrespective of previously experienced metabolic crises in the affected children.51 High anxiety experienced by parents may reflect some additional challenges of caring for a child with an IEM requiring a restricted diet, including dealing with diet and disease uncertainties, which may lead to poorer QoL.11,52 We found that a higher use of social support seeking as a coping strategy to face the child's disease and a lower use of adaptive coping strategies including problem solving and positive thinking were associated with poorer parental QoL.53
The objective of this study was to compare the quality of life (QoL) for parents of children with inborn errors of metabolism (IEMs) requiring a restricted diet with French population norms and investigate parental QoL determinants.
This cross-sectional study included mothers and/or fathers of children < 18 years of age affected by IEMs requiring a restricted diet (except phenylketonuria) from January 2015 to December 2017. Parents’ QoL was assessed using the World Health Organization Quality of Life BREF questionnaire and compared with age- and sex-matched reference values from the French general population. Linear mixed models were used to examine the effects of demographic, socioeconomic, disease-related, and psychocognitive factors on parental QoL, according to a 2-level regression model considering individuals (parents) nested within families.
Of the 1156 parents invited to participate, 785 (68%) were included. Compared with the general population, parents of children with IEMs requiring a restricted diet reported a lower QoL in physical and social relationship domains but a higher QoL in the psychological domain. In the multivariate analysis, characteristics associated with poorer parental QoL included both parent-related factors (being a father, older age, more educated parent, nonworking parent, greater anxiety, seeking more social support, and using less positive thinking and problem-solving coping strategies) and family-related factors (disease complications, increased number of hospital medical providers, child's younger age, single-parent family, and lower family material wealth).
Parents of children with IEMs requiring a restricted diet reported poorer QoL in physical and social relationship domains than population norms. Psychocognitive factors, beyond disease-specific and family-related characteristics, were the most important determinants influencing parental QoL and may represent essential aspects for interventions.
ClinicalTrials.gov: NCT02552784.
Key Factors Affecting Parental Quality of Life in Families of Children with Inborn Errors of Metabolism Requiring a Restrictive Diet
2023, Journal of Pediatrics
Role of Psychologists in Pediatric Metabolic Disorders
2022, Pediatric Clinics of North America
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet
2022, Journal of Pediatrics
Citation Excerpt :
Consistent with previous studies on children with chronic conditions,20,41,51 we found that child anxiety was negatively associated with QoL. Anxiety is a psychosocial issue common to patients living with IEMRDs, and it merits attention because of its real impact on the daily lives of affected children and their families.23 Vliet et al explored QoL in patients with tyrosinemia type 1 and found that almost one-half of children had internalizing problems, mainly anxiety, which was negatively associated with child's QoL.52
To investigate the determinants of quality of life (QoL) in children with inborn errors of metabolism with restricted diet (IEMRDs) using a single theory-based multidimensional model.
In this multicenter cross-sectional study, data from children aged 8-17 years with IEMRDs (except phenylketonuria) and their parents were collected from January 2015 to December 2017. Measurements included a child's self-reported QoL, self-rated behavioral problems and anxiety, and parental anxiety. Based on hypotheses from a literature-built theoretical model linking demographic, clinical, family environment, and psychosocial characteristics to QoL either directly or indirectly, associations of these factors with a child's self-rated QoL were examined using a structural equation modeling approach.
A total of 312 children (mean [SD] age, 12.2 [2.6] years; 51% boys [n = 160]) were included. Higher levels of trait anxiety and behavioral problems in children were the most important factors associated with poorer QoL (standardized path coefficients, −0.71 and −0.23, respectively). In addition, higher parent trait anxiety, younger age at diagnosis, and a disease requiring an emergency diet were associated with poorer QoL in these children. The final model fit the data closely according to conventional goodness-of-fit statistics and explained 86% of the QoL variance.
Psychosocial factors appear to be major determinants of QoL impairment in children with IEMRDs. These factors should be addressed in clinical practice as part of the global treatment plan for a child with IEMRD. Future studies based on a longitudinal design should consider coping strategies when exploring potential predictive factors of QoL.
International classification of functioning, disability and health framework (ICF) based adaptive functioning outcomes of children with organic acidemias from a middle-income country
2021, Brain and Development
Citation Excerpt :
In the environmental context, children with organic acidemias and their families live with important challenges. These include following a strict diet, living with the stress of possible metabolic crises and permanent sequelae [11]. Existing reports on the development of children with OAs has mostly focused on cognitive outcomes as intellectual quotient (IQ) measurements [1,2,5,6,10].
The World Health Organization International Classification of Functioning, Disability and Health Framework (ICF) states that a child’s health conditions, functions, activities, participation in life and contextual factors shape disability. Research on the development of children with organic acidemias (OA) mostly focused on cognitive and medical outcomes. This study aimed to examine adaptive functioning of children with OAs based on ICF.
In this cross-sectional study, children with propionic academia, methylmalonic acidemia and maple syrup urine disease receiving care at Ankara University School of Medicine, Department of Pediatrics, Pediatric Metabolism Division were recruited. Comprehensive developmental assessments included ICF-based methods. Adaptive functioning was measured with Vineland Adaptive Behavior Scales-Second Edition.
The sample comprised 22 children with a median age of 47.5 months (IQR: 35–73.5). Most mothers (64%) had less than 5 years of education, half had depression. Two children (9%) were attending to school, 14 (64%) were not regularly playing with friends. Fourteen children (64%) had significant communication delays, 12 (55%) had significant problems in daily living skills, and 12 (55%) in social skills. Mean adaptive behavior composite score was 65.5 ± 16.8 (low), children with feeding disorders had significantly more low adaptive behavior composite scores than children with no feeding disorder diagnosis (p = 0.001).
Our results imply that children with OAs from Turkey, a middle-income country had major difficulties in functioning, activities, participation and contextual factors. Feeding problems appeared as a risk factor for lower adaptive functioning. ICF-based assessments and interventions are urgently needed in the management of children with OAs.

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IEM DigestInborn errors of metabolism: Psychosocial challenges and proposed family systems model of intervention

Abstract

IEM Digest
Inborn errors of metabolism: Psychosocial challenges and proposed family systems model of intervention